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WE CONTINUE TO SORT, MOVE AND CULL LEGACY CONTENT TO MAKE ROOM FOR NOW

Most importantly we strive to share our personal moments with the hope that normal life weaved into a journey with being born rare shows a couple who have been married
for over 40 Years while riding the ups and downs that Mother Nature built into our
DNA. We are friends at 17 & 18 who married at 18 & 19, raised 2 amazing kids,
and now are chased by 5 grandchildren. We both succeeded at challenging
careers while battling through countless medical-life challenges.

CHRONLOGICAL PRESENTATION STARTS BELOW

Are all of the SARS COV2 / COVID19 vaccines the same? Do I get one?

The Pfizer and Moderna vaccines are different from any other vaccine we have known as the general public. They use “mRNA” to signal our body and have the best efficacy according to Phase 1 through Phase 3 testing. I can explain, but its a long explanation better left for another day. The bottom line is these are showing a real life efficacy in the 90% plus range.

The J &J and AstraZeneca are in the same class with each other, as regards to design and efficacy. Real world efficacy for these “modified virus” class vaccines ranges for 55% to 68%. To be transparent while not over-reacting too, these “modified viruses” are reporting, “one in a million” reports, that low level blood clotting has occurred in a narrow group of people (mostly women). But knowing that these side effects are reported as very very low matters – their risk profile is in the ONE IN A MILLION category.

Mom, 96 years old, got the J and J vaccine while hospitalized. No choice. She is doing great on it. My wife and I chose Pfizer. We are doing great, although in our 1st three days our bodies let us know they were responding.

When we asked the doctor about my mother in-law’s J&J vaccine, the “modified virus” vaccine, he said that all of the vaccines showed clinical evidence of preventing “serious” outcomes from SARS COV 2 infection. ALL OF THEM. He explained that the Pfizer and Moderna vaccines additionally showed a protection from low level infections as well – that’s the 90% efficacy rating difference in real life.

I will not make a recommendation, encourage or discourage. I’m not a doctor. And, anecdotal personal reports are just that a unique personal experience. I do have K-T related micro-clotting and I have had a brain stroke attributed to micro-clotting with no known cause to be found. My point is that getting my doctors counsel on these vaccines was critical for me. I’m 66 years old and medically compromised with a history that includes micro-blood clotting. This is what my doctor had to consider when balancing all of the risks of medical care. My doctor advised me, based on my personal medical profile, to take whatever vaccine was available.

Because my wife and I are 24-7-365 caregivers to my mother in-law, her Hospital (Kaiser) offered us the Pfizer or Moderna, vaccine at their out-patient vaccine center. And we took them up on it because every other resource was booked out several weeks at best.


Thinking about how many in our Congenital Vascular Community look at each other and wonder why some of our malformations look alike, or not

Being buried in looking into medical-science literature and studies, I read a study that states that:

  • Gene EPHB4-variants were recently reported to cause CM-AVM2 (capillary malformation-arteriovenous malformation 2).
  • CM-AVM2 mimcs gene RASA1-related malformations CM-AVM1 AND HHT (hereditary hemorrhagic telangiectasia) – clinical features including capillary malformations (CMs), telangiectasia, and arteriovenous malformations (AVMs).
  • EPISTAXIS, another clinical feature that overlaps with HHT, is reported too.
  • Based on the clinical overlap of CM-AVM2 and HHT, it was hypothesized that patients considered clinically suspicious for HHT with no variant detected in an HHT gene (ENG, ACVRL1, or SMAD4) may have an EPHB4 mutation.

Reading the above within the the context of K-T syndrome and Parkes Weber syndrome, the latter also caused by a RASa1 gene mutation, it’s no wonder that we can be in the same conference room with those diagnosed, or thinking a diagnosis of, K-T Syndrome or Parkes Weber Syndrome, and see people who look like us and those who do not. Genetics is bound to revolutionize our diagnostic classifications and maybe even our treatments. It should not be lost on us that within the alphabetic soup above is the HHT diagnostic classification which is inherited, while K-T and PW are not inherited. Two decades later, after my diagnosis of K-T and the start of a long and deep journey into medical and scientific research, the above study was still a difficult read. We are composed of 20,500 genes and who knows how many mutations or variants of these. When these mutations cause very similar malformations, it makes our search for a single diagnostic name or classification all that much harder.


Asked how taking a COVID-19 vaccine affected us

So it is, today a K-T affected person asked about the affect taking a COVID-19 vaccine had on us. I responded as follows:

66 years old. With a history that includes Chronic Venous Congestion (k-t), Hospitalized Respiratory Infections (pneumonia), Blood Clotting in my Brain (Cerebellum Stroke), getting infected with the SARS COV 2 virus and then developing COVID-19 was (may still be) likely. Considering all these risks and the performance data on the available vaccines, we chose to get the Pfizer vaccine.

The first shot left us with a sore arm at the injection point and light lethargy. The second shot hit us harder. My wife felt quite ill for several days. My lethargy increased. I did have a lymph node in my neck get rather agitated; it swelled up and was noticeably sore. My doctor followed it and offered a steroid shot if it did not recede in a week. It receded/resolved. No steroid shot needed.

Now we wait for 14 days to pass for our bodies to fully respond and produce the natural antibodies needed to fight of the virus should we get exposed to it. We still isolated, social distance and wear masks when out in public. So far so good.

I wish the hospital that organized the clinic we went too would also offer follow-up antibody testing so that we could get a proactive indicator of some level of immunity instead of trusting that our old bodies did what was intended. Although our systemic response, like my lymph node responding, is a good indicator that the Pfizer vaccine caused an autoimmune response. I may ask my doctor if he can order the antibody test for us.

Bill

Asked about my variant of K-T

Asked today what my K-T variant was, I responded:

Bilateral from hip to toe and through my pelvis. Heavy on the Vein & Capillary malformations. A bit less on the Lymphatic Component, but enough to cause congestion and swelling if I don’t elevate 20 hours a day. Chronic Venous Stasis Ulcers (open wounds), cellulitis, and fear of sepsis are a constant. Chronic Venous Congestion had progressed to the point of being bed-ridden (although a vein ablation procedure in both lower legs may have solved this for a while). Deep veins are not patent and shunted into Superficial Veins causing severe varicosities – absent deep veins I don’t tolerate heavy compression stockings, so 20 hour a day elevation is my prescription. No hypertrophy component, other than one leg is a bit longer than the other which could be within the “normal” range. Blood clotting became a problem about 5 years ago when micro-clots settled in the tiny vessels in my brain, causing a PICA stroke and showing “quite” damage in my Cerebrum (K-T propensity for clotting being my concern, as the doctors found no other biological indicators).

Bill

It’s time to start regularly blogging about our personal journey again – the retooling aspect of our educational outreach piece is done and rolling along

Happy 1st Monday in May. It’s time to start regularly blogging in our journal again. It has taken us weeks and weeks and countless hours to re-design this online journal, to transform it into a more complete educational and public awareness site for the Congenital Vascular Malformation community. The personal blogging piece has sat dormant, waiting to be used on a regular basis again.

I am happy with the results of our website work these last months. I am not happy to have lost touch with so many of you over these last 6 to 7 years. Hello and thank you for your compassion and support. I hope our planned increase in volume of educational material, posted alongside our personal blogging, doesn’t clutter your Facebook newsfeeds. If your vote is that we separate these into two Facebook pages, please let us know.

Bill

Hamburg classification system of Vascular Malformations

Re-introducing the Hamburg classification system of vascular malformations.

A European alternative to the ISSVA classification system.

The Hamburg classification system “is one of the more commonly used systems to describe the wide range of vascular malformations, largely replacing the many various eponymous syndromes traditionally used. It accounts for the underlying anatomical, histological, and pathophysiological features of congenital vascular malformations (CVM). It also introduces embryological aspects, further subdividing them into either an extratruncular or truncular form, based on the time of developmental arrest during embryonic life.”

Journey Started, Interrupted . . .

. . .

When you’re in the midst of these kind of days, weeks, months and years you tend to not realize just how hard you are paddling to stay above water. Dawne and I were discussing the last 20 years as we re-constructed our medical journeys for our Seen, yet Not Heard Journal. The old expression, time fly’s comes to mind.

New Content for the Journal Cover Page

Seen, yet not Heard [1st ed.] was Bill’s first attempt at [1] journaling about his 1997 corrected diagnosis of Klippel-Trenaunay Syndrome and [2] website development. This was 2002 and it required him learning hardcore HTML coding. Ouch!  In the intervening years between 2002 and 2008 several life changing things occurred. He cared for his Father in his last days, 500 miles from Dawne, as Bill’s dad passed away from cancer. 2007 had Bill in the hospital for major neck surgery. 2008 to 2013 brought us the joy of our first grandkids and Papa Daycare. In these years, specifically 2011, the 3rd edition of Seen, yet Not Heard was published. It brought with it 14 years experience learning and living KT and an evolution to Visual Coding. In 2011 Dawne’s father lost his battle with cancer, with many long distance trips for Dawne and Bill between Northern and Southern California, 500 mile trek for them.

2013 brought an end to Papa Daycare as Dawne was diagnosed with Breast Cancer. Rocked their world! Fulltime attention turned to her care and treatments. And Dawne fought yet another battle with cancer – thyroid cancer this time. Thankfully, Dawne is double-cancer free now.  2013 also saw Bill hospitalized for a simultaneous Cellulitis and Lymphatic System Infection. In 2014 the ISSVA published its blockbuster diagnostic classification system. Bill worked to learn its implications and communicate these to our Born Rare community. He found tremendous peace and gratitude in being alive and in volunteering fulltime in support of our Rare Syndrome family. Dawne joined in as she offered her personal support. She took on their public T-Shirt Campaign in support of the KT Support Group. She and Bill were and are health and life advocates and partners as they fight off the medical and life unexpected for both of them.

Then 2017 came and along with it Bill’s hospitalizations for Pneumonia and Heart Monitoring. These thankfully concluded unremarkably. Bill’s health then took yet another unexpected turn. He was sacked by a Cerebellum Stroke. The total ramifications of which would not be known until 2019. More on that later. That said, Bill recovered quite quickly from the brain stroke. For our K-T companions, Dawne and Bill completely lost sight of life with K-T. They had a new normal to consider – Bill was zapped by a brain stroke. Dawne’s cancer after-life did that too. Dawne now faces a lifetime of Chronic Lymphoedema.

AND THEN BOOM! The Klippel-Trenaunay Syndrome Ghost paid Bill a nasty nasty visit. It was 2018 and that sneaky Ghost put him in bed 2,000 miles from home, then into the ER, and then into inpatient care for an acute escalation of his Chronic Vascular Congestion. It also independently found him on the outs with Support Group administrators for standing against the bullying of a KT compadre who sought moral support while navigating the emotional hurdles of being born rare. There are those times you unregrettably act despite popular opinion, particularly when you have professional training that contravenes popular sentiments.

AND THEN HOPE and a DOCTOR’S DEDICATION FOUND BILL! Dr. Tollefson answered a desperate call, an eMail. She, the Ghonda Vascular Center (Mayo Clinic), would challenge his “inoperable” diagnosis. Dr. Tollefson arranged for full diagnostics and then an intervention/operation. They cleaned up congenital vein malformations in both lower extremities.

2019 was schedule to be a recovery and breakout year. Not so quick! Remember the unintended medical consequence of Bill’s stroke mentioned above; apparently his Parathyroid was instructing his body to sleep from 3 AM to 3 pm, It blunted his Analytical Mind – he resembled more zombie than human. Yikes! And then World Pandemic 2020 hit. And the World had its own Beast to contend with. Dawne and Bill self quarantined from the very beginning, starting in February. Hard for many. Bill’s prescription drug induced Hyper Parathyroid assured he would sleep through most of it. As a comedic aside, Bill’s cell phone bill showed 2 minutes of calls for an entire month. That’s a lot of sleep without much conscious interaction with the world.

Meantime, through all of this Dawne had lost her job due to her company’s unwillingness to wait out her recovery. So much for modern day consideration for those handicapped by Breast Cancer. Adding burdens and steep challenges, Dawne’s mom had been diagnosed with cancer. Off to Northern California with most of their household belongings in tow and into a 24-7, 365 caretaker role for Dawne. What was an early forced retirement for both Dawne and Bill now is a fulltime – and then some – Conservatorship and Caretaker job. Oh my, of mice and men and the fragility of best plans made in life!

It’s early 2021 now and the Morning Sun shines and warms hearts and souls. Bill’s Parathyroid corruption is over – the outcome of a very long detox from that nasty anti-cholesterol drug he was taking after his Brain Stroke. Bill’s back to a normal sleep cycle. His muscles are slowly recovering from years in bed. He can walk the block now. His brain is fired up and his passions have returned. The 2020 SARS COV 2 virus has hopefully run its course. And, Dawne and Bill have had their Pfizer Vaccine shots, with almost full immunity likely in the coming weeks. Dawne has one less fulltime patient to attend too, although she is exhausted and in need of her own nursing.

Dawne and Bill found themselves asking these last weeks what had happened to Bill’s journal? It had fallen into total disarray. They asked what’s next? After considerable thought, a massive restoration and a 2 year Farewell Tour. Dawne and Bill look forward to a less public life and a true retirement. They are 65 and 66, respectfully. They work to cleanup the med-science aspect of the Journal in hopes that it will offer referential support beyond their retirement. They also strive to say thank you to all of you for your encouragement and support these last 16 years. Thank you to all of you!

In many respects Bill and Dawne hope this Journal lives on. They still don’t see a street-level resource as Bill likes to call this. Moms and Dads and Kids sure could use a book that doesn’t slant towards medical jargon and med school terms and vocabulary. It’s that legacy Bill once strived to be. Who knows maybe they will get to that point these last 2 years. An important message in their Journal will be that in view of the many many ups and downs of living with a rare syndrome its understandable why their born rare community gets exhausted, even exasperated. All in all though the above chronology sure puts an important filter on this life picture. “Regular” life has a set of challenges that KT life-skills sure seem to prepare us well to handle. An equally important message is that wedding vows, “for better or worse”, didn’t portend this. Bill says he has a deep affection for Dawne, and every life partner, who walks this long and winding road with those Born Rare.

Dear Arianna,

As we looked back these last several weeks on the last almost 20 years we have been looking for answers to our diagnosis of Klippel-Trenaunay Syndrome we realized that 10 years of these included you as a everything from young blogger, to pen pal, to friend, to mentor.

I will forever remember you teaching me that we who are born rare do not compare notes about our symptoms, our syndrome, as a an expression of our good fortune. You taught us that pain has no mantle when it comes to complicating our lives. Our KT lives are complicated period. This was your sage advice to a man who is 30 plus years your senior. I took it to heart and it is now a constant message I send to others in my Circle, not just those born rare. It’s life advice that puts hope and faith in front of us where it leads us to better days, to realizing dreams while pursuing our passions.

You were first in our community to publicly call for a focus on mental and emotional health, this was way ahead of the physicians who counsel us. We look forward to the day your Thesis is published and it leads the World to a new day in total healthcare for us who are born rare. Hello World, listen to Arianna. Read her works. Engage her on her ideas.

It was about 7 years ago that my writing slowed while my daily battles intensified with my senior years. It was your writing and resilience Ari that shined bright. Now that Mother Nature and very good doctors have given me a respite from the consequences of old age I seek to pick up writing again. And in doing so I turned to your work of these last years for motivation and guidance. I can no longer say the child teaches the adult. You are an adult leading adults. I write in large part because you write.

Thank you Ari for your undaunting willingness to put your life on the front pages of your blog and into the public forum. I hope your new followers realize that you have been doing this since you were like 1o years old. Many of us, kids and adults have been constructively impacted by that kid who chose to share the once unshareable with the World.

We, the World, seems to be in a temporary place where its fashionable to withdraw into ourselves. John F Kennedy once said, “it’s not what your country can do for you, but what you can do for your country.” He was honored for it, properly so. I beg permission to update it. “it’s not what humanity can do for us, it’s what we must do for humanity”. By either of the aforementioned standards you show us everyday how these are done.

Ari, please share this on your website. I know you will resist this request. Please don’t. There is a time for everything, a day for everything. It’s a time for celebration, for celebrating your successful medical interventions. It’s my time to say thank you to you in a very public way.

My wife Dawne and I both wish you best in health and life. Please keep writing. Please keep pushing us to improve our understandings of rare syndromes and diseases, as well as our care, concern, and treatment of those born rare. Please keep our focus on the parents of those born rare as well.

With much respect and appreciation, Bill Lee

Servelle-Martorell Syndrome |intro

This syndrome became known to me when a fellow KT traveler and friend announced that she was re-diagnosed with it. Reviewing the ISSVA Diagnostic Classification matrix in preparation to update our website there this diagnostic name was again.

Over the years many KT diagnosed had been asking in groups and me personally about their limbs being underdeveloped, rather than showing with hypertrophy (overgrowth). Hoping there is an avenue of research and information I can turn their way. It reemphasizes a cornerstone belief we have that those of us born rare and having similar symptoms, even visual looks, may well have very different Syndromes, thus need different interventions and care.

Genetics has NOT determined what triggers Servelle-Martorell Syndrome.

While we who are diagnosed with KT Syndrome know about the low frequency of our syndrome in the general population, recognizing that others have congenital anomalies even rarer is important. Ready resources are always a problem in our community, even more so for Servelle-Martorell.

A search for definitions and recommended care an treatment tuned up one support group which serves as our basis for this introduction.

William Lee


[abstract below is verbatim]

source: CMTC ALLIANCE

ABSTRACT

Servelle-Martorell syndrome (SMS) is also known as Servelle-Martorell angiodysplasia or phlebectatic osteohypoplastic angiodysplasia is characterized by ectatic aneurysmal dilatation of the superficial venous channels and skeletal abnormalities leading to monstrous deformity of the affected extremity. Pathophysiology involves partial or complete lack of valves in the deep venous system, intra-osseous vascular malformations due to the destruction of spongiosa and cortical bone joint destruction due to intra-osseous vascular ectasias. Plain X-ray may demonstrate multiple soft-tissue swellings, multiple phleboliths in the ectatic venous system and hypoplasia of the bones.


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Sturge Weber Syndrome |into

On a personal note, we who are born rare are told that we are 1 in 100,000 genetic anomalies. We don’t expect to run into someone who looks like our bodies were painted in the same style by a famous artist. And then we do. I’m not talking about attending a medical support conference here. A gentleman who divorced my sister in-law many years later introduced his girlfriend to us at a family gathering. His girlfriend’s daughter has Sturge Weber Syndrome. A great niece of Dawne’s, my wife, was born with a small Capillary Malformation. It is truly a small world. There is a constancy about those we meet – they are wonderful people. They so often are the bright light in the room.

– William


[abstract below is verbatim from NIH, less their footnotes]

source: GENETIC ANOMALIES and RARE DISEASE INFORMATION CENTER [USNIH]

ABSTRACT

Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain. Port-wine birthmarks are caused by enlarged blood vessels right underneath the skin. People with Sturge-Weber syndrome also have clusters of abnormal blood vessels between the layers of tissue that cover the brain and spine known as leptomeningeal angiomas. They may also have increased pressure in the eyes known as glaucoma. Other symptoms of SWS may include seizures, muscle weakness, developmental and intellectual disability. SWS is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo. SWS is diagnosed based on the symptoms. Imaging studies, such as an MRI or CT-scan, are also used to aid in the diagnosis. There is no one treatment for SWS, so management involves treating the specific symptoms that are present. This may include anti-seizure medications, medications and/or surgery for glaucoma, and low-dose aspirin to reduce the pressure in the eyes and brain. The port-wine birthmark may be treated with various types of laser treatments. The long-term outlook for people with SWS is dependent on the severity of symptoms and varies from person to person.


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Parkes Weber Syndrome |intro

Dr Frederick Parkes Weber, aka Parkes Weber, was once diagnostically associated with Dr Klippel and Dr Trenaunay as Klippel-Trenaunay-Weber Syndrome (KTWS). One of Dr. Weber’s areas of study was arteriovenous fistula investigations in patients with congenital vascular anomalies. He likely saw visual congruence in other symptoms like capillary malformations.

Then a stronger biological-physiological distinction was made. These fistulas were showing “high flow” (or high pressure) attributes, while Klippel & Treanaunay described low flow (or low to no pressure) attributes.

Med-Science took a turn – it pulled Weber’s patients out of the association with Klippel-Trenaunay Syndrome leaving the latter diagnostic classification for patients with primarily low flow malformations. Thus KTWS became known as KTS (aka K-TS). Thus was born the high flow vs low flow diagnostic threshold.

That said, we still see the legacy KTWS diagnostic label used among those who likely are using classic medical reference guides/books. Modern day Genetics bears out the high flow vs low flow diagnostic criterion with its finding that Parkes Weber is caused by a different gene mutation than Klippel-Trenaunay.

[abstract below is verbatim from NIH, less their footnotes]

SOURCE: GENETIC ANOMALY and RARE DISEASE INFORMATION CENTER [USNIH]

ABSTRACT

Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels. The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome res ult from mutations in the RASA1 gene, and are inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.


XX

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PROTEUS |intro

The list of possible vascular malformations-symptoms makes this differentially diagnosed syndrome similar to a couple of the PROS family syndromes. However, a short amount of research shows additional skeletal malformations that are beyond PROS (even with some of its hypertrophy components). Genetic med-science has an explanation for the difference – PROTEUS is caused by a different gene mutation.

Interestingly, in the UK the PROTEUS Support group states that they are the official patient advocacy and support group. Why interesting? Because PROTEUS is NOT in the pik3ca genetic mutation family. It is caused by a distinctly different gene mutation. This begs the question – are interventions and research common enough to be represented by the same entity?

PROTEUS from a visual perspective seems to have some commonality with with Klippel-Trenaunay Syndrome and CLOVES to the extent these involve hypertrophy with a significant degree of skeletal involvement.

[abstract below is verbatim from NIH, less their footnotes]

GENETIC ANOMALY and RARE DISEASE INFO CENTER [USNIH]

ABSTRACT

Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the disorder. Overgrowth becomes apparent between the ages of 6 and 18 months and becomes more severe with age. It may result in differences in appearance and with time, an increased risk for blood clots and tumors. Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss, as well as distinctive facial features.[1] Proteus syndrome is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells.[2] This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition.


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M-CM |intro

M-CM is an outlier in the PROS (pik3ca genetic anomaly family; it does not show with lymphatic vessel or vein malformations, while affecting the head when the other subtypes affect the limbs and/or trunk of the body. The common visual is Capillary Malformations. In over a decade of attending Klippel-Trenaunay Syndrome medical conferences I don’t recall meeting anyone with this syndrome or combination of symptoms. This can not be said of other differentially diagnosed within the Congenital Vascular Malformation family. That said, we have European support group contacts who reach out to our International members in our KTWS support group. Deeply motivated to better understand this syndrome.

[abstract below is verbatim from MEDGEN, less their footnotes]

abstract

A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies. 


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CLOVES |intro

CLOVES diagnosed now, a fellow traveler and friend who I have known for over a decade, was once diagnosed as Klippel-Trenaunay Syndrome. When you look at the Vascular Malformation profiles its understandable. The overlap in symptoms is remarkable, particularly if visual cues are your only diagnostic tool.

Genetics has determined both are triggered by the same genetic mutation which also explains the common ground. Thankfully, modern medicine includes the ability to do comprehensive vascular mapping. Why is the differentiation critical? The addition of the AVM symptom introduces another vascular component that changes what interventions are available, even needed. Please push hard to get comprehensive radiological mapping done.

[abstract below is verbatim from NIH, less their footnotes]

Per the United States National Institute of Health (NIH),

ABSTRACT

CLOVES syndrome is a rare condition that is primarily characterized by congenital overgrowth of fatty tissue; malformations of the vascular system (the vessels that carry blood and lymph throughout the body); epidermal nevi; and spinal or skeletal abnormalities. Other signs and symptoms may include disproportionate fat distribution, overgrowth of the extremities (arms and legs), skin abnormalities and kidney problems such as an unusually small or absent kidney. The severity of the condition and the associated signs and symptoms vary significantly from person to person. CLOVES syndrome is caused by somatic mutations in the PIK3CA gene. Because these mutations do not affect egg or sperm cells, the condition is not passed on from parent to child. Treatment is based on the signs and symptoms present in each person.


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Klippel-Trenaunay |intro

Over these last 16 years writing and another 8 researching I have been perplexed by the many definitions for Klippel-Trenaunay Syndrome. No less perplexed today. As I continue to write these last few years I am building a compendium, drawing out similarities and differences, and developing my own aggregation of these equally professional definitions. Starting here with the US NIH definition. Hope this exercise helps you to better understand that our care and treatment is far more about managing symptoms regardless of the everchanging and disparate terms and definitions. There is a needle we can thread and we will certainly try over these next months.

[abstract below is verbatim from NIH, less their footnotes]

Per Genetic anomalies & rare disease information center (NIH),

ABSTRACT

Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain, overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep veins in the limbs. The overgrowth of bones and soft tissues usually begins in infancy and is most often only affects one leg. However, it can also affect the arms or sometimes the upper body area (torso). The overgrowth can cause pain, a feeling of heaviness, and make the affected leg (or arm) hard to move.

Most, if not all, cases of KTS are caused by somatic mutations in the PIK3CA gene. Medical researchers believe KTS is part of a group of disorders known as PIK3CA-related overgrowth spectrum (PROS) which also includes MCAP and CLOVES syndromes, hemimegalencephaly, fibroadipose hyperplasia, and epidermal nevus. Treatment is symptomatic and supportive.


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PROS |Intro

Med-science is turning the corner on diagnosing legacy syndromes – genetic diagnosis is occurring concurrently with a shift to “symptom” based titles-names-labels. This while another change occurs which is “symptom-based” diagnostic classifications. It’s confusing, but groundbreaking too.

Those of us who have carried the Klippel-Trenaunay Syndrome label likely will hear concurrent diagnosis of PROS, as regards to the genetic discoveries. This is largely yesterday’s news, like several years old, but worth mentioning in case it was missed in our general community.

[abstract below is verbatim from NIH, less their footnotes]

Per the Genetic Anomalies and Rare Disease Information Center [US NIH]

ABSTRACT

PIK3CA-related overgrowth spectrum (PROS) is a group of rare disorders that cause overgrowth of parts of the body, due to mutations in the PIK3CA gene. Specific disorders in this spectrum include:

  • Fibroadipose hyperplasia (also called fibroadipose overgrowth)
  • CLOVES syndrome
  • Megalencephaly-capillary malformation syndrome (MCAP syndrome)
  • Hemihyperplasia‐multiple lipomatosis syndrome (HHML syndrome)
  • Hemimegalencephaly
  • Facial infiltrating lipomatosis (a congenital disorder that causes overgrowth of one side of the face)

Signs and symptoms of PROS depend on the specific disorder present. Depending on the disorder, they can include having a larger-than-normal brain (megalencephaly), low muscle tone (hypotonia), seizures, intellectual disability, changes in the blood vessels (vascular system), and overgrowth of one area of the body (focal overgrowth) or of multiple areas of the body (segmental overgrowth), with normal growth elsewhere.[1]

PROS is usually caused by somatic mutations in the PIK3CA gene. These changes typically are only present in some cells or some areas of the body (called mosaicism), and are not known to be inherited. Rarely, PROS is caused by a de novo germline mutation, which is present in all cells of the body. The diagnosis of a PROS disorder can be confirmed with genetic testing of the PIK3CA gene. Treatment for a PROS disorder may involve surgical interventions, special education, and speech and physical therapies. “


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No Foolin’

We saw the Cancer Surgeon today. This is a long ago scheduled visit. She would check things out post chemotherapy and hopefully likeIwhat she sees. We would hear pathologically complete response (cancerous tumors all gone). We would look forward to her agreeing to schedule surgery near the end of this month, April.

We are happy, happy, happy!

The scheduling clerk is to call us tomorrow or the next day to schedule surgery. Both the Cancer Surgeon and the Plastic Surgeon like what they see. And while “pathological” very specifically waits for surgical removal of tissue and a microscopic examination of the same, the sonogram today shows only markers. All tumors are undetectable (read strong likelihood the tumors are gone).

We are Back On-line [4th ed.]

After a 3 year hiatus, almost a 5 year hiatus if you measure relative activity year to year. There are several events and reasons we have picked up our Blog which was born on WordPress in 2002. At the present time we are re-reading and editing our historical posts and content.

The Blog once included a wide variety of my personal work products, including poems and prose, even family endeavors. We have decided to filter our material and limit it to medical and personal support of congenital vascular anomalies. The content is further organized into two primary buckets – (1) our personal posts about our medical-life journey and (2) our applicable findings of helpful resources & medical-science news. The later is grouped here as “Will’s Resource Journal”. That content has grown into formative chapters which are now being parsed and published as Care for Rare and Care 4 KT.

Until the above book is complete we will continue to record our homework, our research, our finds, here on our (Blog). Look for the distinct Link Buttons that will take you to this material. If you have material you wish to be added to this project, please contact us. We are very open to adding contributors (with proper credit given). The goal is to have Help Book for parents and others that are new to syndromes like Klippel-Trenaunay, Parkes Weber, Sturge Weber, CLOVES, Proteus, CM-MC, and associated genetic, congenital conditions. The idea of having several teammates in this Help Book endeavor is thrilling to us.

Our Facebook presence will be driven by this website. It is our anchor.

_________

A mom asked

[2019, March 26] A response I prepared in support of the K-T community today. Sharing here for posterity. Its anecdotal. It’s also an old man’s heartfelt response based on very real life experiences.

-——————————

A mom asked:

  1. Can the KTS pop up else where on his body?
  2. Does he need an ultra sound to see if it effects his bone?
  3. Does the laser treatment just stop growth or does it shrink the growth?
  4. Could treatment cause hair loss in the effected area?

——————————

It’s not uncommon for kids like myself to have diagnosis change from doctor to doctor. Klippel-Trenaunay Syndrome is a “complex” vascular malformation which typically includes capillary, lymphatic vessel, and vein malformations with each of these components being of different degrees in each of us. It can also include muscular-skeletal, soft tissue, and internal organ involvement (but not always).

The the reddish-purple appearance is capillary component only. It is the most visible component typically, although some of us also show varicose veins, lymphatic blebs (tiny blisters), thickened skin, skin breakdowns or scarring, and venous stasis ulcers. Lasers are engineered to essentially burn discrete body parts and doctors are trained to know which part they are treating – capillaries vs veins, etc.

Please ask the doctor which symptom or body part is being treated. In most cases Laser is closing capillaries that are nearest the surface of the skin (which gives the appearance that the skin is changing color). It’s not skin color, it’s destroying capillaries filled with reddish colored blood in the hopes these capillaries don’t come back. People report that sometimes capillaries don’t come back and sometimes they do. K-T is a random genetic mutation in a single cell during gestation, thereafter the DNA sequencing carries to the “new” cells that stem from the original mutated cell. This means that we carry that DNA mutation for the rest of our lives. It makes perfect sense that if we damage a mutated cell that is in a bed of mutated cells that our bodies have a good chance of replacing it with a similar cell.

There is a bit of uncertainty when doing laser treatments on K-T caused capillary mutations, Not enough to say no; but enough to say be diligent. For those who have success with laser treatments know that while things look better visually that’s not the end all to be all of K-T and thus possible other care and treatment needs.

I have a mantra “K-T is not only skin deep – it is not just a birthmark”. We need to put that on a T-shirt and wear it to our doctor appointments. I say this because so many doctors don’t get it. I started my treatment life with general practitioners who had no clue. I evolved to Dermatologists who saw red and treated it as a skin disorder; they damaged me life because they didn’t do vein studies. I saw Vascular Surgeons in several Northern California cities, including San Francisco who diagnosed me as having a Port Wine Stain (another misdiagnosis from a profession that should have known better). At just over 40 I found a Vascular Surgeon with actual experience with Klippel-Trenaunay Syndrome (these people are not always readily available) and he turned one corner for me. Sadly, we were required by insurance to us a Radiological Technician and doctor who didn’t have K-T experience and was declared inoperable (my K-T being from toes to hip). It took the multi-disciplinary Doctor team at the Mayo Clinic in Rochester, Minnesota at 63 to accurately diagnose that I was operable and to begin needed interventions on my veins (using vein level laser treatments).

No amount of capillary level laser treatments would have been beneficial to me, except were these to work the result would be cosmetic. Covered from toe to hip on both lower extremities and through the pelvic/butt/pubic area is a lot of real estate, so to speak, and I would not have wanted to be burned by lasers from birth to 18 if cosmetic changes were the goal (but that choice is easily a psychological choice too).

I absolutely understand kids saying they would chose differently; it takes careful and positive conversations with us kids to be able to respond to other kids and even adults who get transfixed on our unique appearance. I was fortunate to not care that others at time noticed it or asked about it. It was simply me and I was taught to like me. I was also taught to not allow bullies to define me or own me. It’s not the easiest life, but it’s also not the hardest life either. I was loved by those who mattered and that carried me and made me confident in myself.

If the hospital has directed you to a Dermatology only specialist who’s main practice is skin deep laser treatments, I encourage you to ask for referrals to Vascular Surgeons AND Intervention Radiologists to make sure the Vein and Lymphatic Components aren’t going to need or eventually need care and treatment also. As for life style, think about swimming as a main sport. Water immersion gives us a source of natural compression and compression is a big help with K-T caused Vascular Malformations.

—————

Matt Westlake

Matt writes us,

“In March 2014, I had my last operation. Before then I was a frequent visitor at Boston Children’s Hospital for over 10 years. In 2014 a Doctor from New York performed Cryooblation techniques on the 6 most painful parts of my leg. Before this operation I d asked to have the limb amputated. My team of Doctors counter offered me this procedure. These 6 painful spots I had circled on my leg were all enlarged veins putting pressure on nerve endings. I was informed that each area would have a 10% chance of leading to paralysis if the liquid nitrogen were to touch the never-ending. I was looking at a 60% chance the procedure would lead to some sort of paralysis. And if that were to happen the limb would have came off just per my original plan. Well I woke up with pencils and fingers tracing my leg and wiggling my toes. And I felt all of it. Super Cool. The next day I pushed my wheel chair out of the hospital one foot in front of the other. Actually, there was no space between my steps. Very small but they got me where I was heading.

I moved West 4 short months after. Packed all my things into a ’87 panel van and drove to a small mountain town called Canmore. Tucked into the heart of the Bow Valley surrounded by tall & proud mountains. Prior to my operations I had began a form of climbing called “Bouldering”. Climbing short sequences, only a few feet from the padded floors. This was great therapy and allowed me to work on the range of motion in my left leg. After my last operation the 6 spots that would keep me in my wheelchair disappeared. How ever this did not heal me; I still get battle pains. One day my “x” factor will be up and I’ll be back on that operating table. Until then I will continue to do what I am doing.

And for the last 2.5 years I have been training and progressing as an Ice Climber. Doctors always said “ice is your best friend”. MAN WERE THEY EVER RIGHT! Yes it’s dangerous. A fall or impact to my left leg would and can be catastrophic. I climb with a knee high kevlar sock on my left leg due to the uncontrollable fact that it’s easy to stab yourself in the cafe with crampons (metal spikes on our boots). Blood thinners make small cuts very annoying and really hard to keep blood of my green jacket. The use of a compression stocking and additional tensor bandage also are thrown into the day.

I climb with a few things my partners may not carry in there pack. QuickClot used to fill and seal lacerations, a tourniquet incase my leg really takes a beating and a SPOT device. (gps communication). Now all of my work and dedication has lead me to landing a spot on Team Canada for the Ice Climbing World Cup. Shockingly only 2 of my 8 teammates know anything about my leg. And none of my competitors. Something I find a lot of pride in. The down fall is this sport here in Canada has yet to fall on the radar of potential government funding or private funding. It’s not uncommon for an athlete to rack up a $10,000 credit card in one season fallowing the world cup circuit. Which is an insane cost to represent your country on an international stage.

It’s been a crazy 4 year’s and so much has happen. Yet the most exciting is the list of things to come. This year I’ll be focusing on a film project as well as a youth team, as Canada is yet to have a Youth Team for the world cup!

I’d love to answer any questions, send them my way.”

Cause of Port Wine Stain Found

Good news. Although the specific use of the label Port Wine Stain in this medical article continues the conversation about its less than definitive use as those of us with Klippel-Trenaunay Syndrome see it used to describe one of our many conditions (Capillary Malformations). As we know K-T Syndrome is caused by a PIK3CA Gene mutation, a different genetic trigger.

http://www.webmd.com/skin-problems-and-treatments/news/20130508/researchers-pinpoint-cause-of-port-wine-stain-birthmarks#1

http://www.webmd.com/skin-problems-and-treatments/news/20130508/researchers-pinpoint-cause-of-port-wine-stain-birthmarks#1

https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome


Here are a couple of Klippel-Trenaunay Syndrome genetic references:

https://ghr.nlm.nih.gov/gene/PIK3CA


https://www.ncbi.nlm.nih.gov/pubmed/25557259


KT in light of the ISSVA Diagnostic Classifications

Update [link to see 2018 info]

The above was our best effort in 2014 to present the 2014 ISSVA breakthrough classification protocol for diagnosing Congenital Vascular Anomalies, including Vascular Malformations. In advance of the ISSVA announcement, some of us had the good fortune to hear from doctors presenting it at a medical support conference. If you have the opportunity I highly recommend the K-T Support Conference, typically held biannually in the summer at the Mayo Clinic, Rochester, Minnesota, USA.

Finding Klippel-Trenaunay Syndrome within the ISSVA Diagnostic Matrix – by Seen, not yet Heard

Date line 2014 we wrote the following:

The new terms have been a topic of conversation many times throughout the year and even still now. We thought it would be beneficial to have a graphic at our finger tips so the KT Awareness Campaign developed the attached. Very quickly we will follow with the more detailed explanation of this chart. In the meantime, we hope this helps to explain the macro world we live in, so to speak.

Curious? The classic Klippel-Trenaunay Syndrome diagnosis falls under the “CLVM” subclass, under Vascular Anomalies.  Please do not get to worried about labels.  Many of us who are diagnosed as having Klippel-Trenaunay Syndrome have long dealt with being variants from someone’s medical reference book. For example, we have all heard doctors insist that a “hypertrophy” component is required to be diagnosed with KT. In fact you will see language to this affect in the ISSVA notes.

It is not lost on me that many many doctors across the world follow the original classification guidelines by doctors Klippel and Trenaunay that spoke to a combined malformation requiring 2 of 3 components from a list of capillary malformations, vascular malformations and/or hypertrophy.  My doctor does and he is a long standing Vascular Surgeon with KT experience.  Through the power of the internet we participate in many support groups throughout the world.  Interestingly, many doctors outside the USA still use the Klippel-Trenaunay-Weber Syndrome diagnostic label, especially when arteriovenous malformations are found.

Can I make the point — Our medical diagnostic terminology is bit fluid and will likely be for quite some time. Twenty years hanging around with all of you demonstrates one thing for sure — no classic definition proposed, adopted, or used to date begins to explain the entirety of the variability we see in our population. That said, I sense that the attached ISSVA diagnostic matrix comes the closest to describing our community, especially as I look at the entirety of the Combined Vascular Malformations column.

The follow-up ISSVA Notes which are just about ready in handout form really get into the “differential diagnosis” too. These include a laundry list of things like Parkes-Weber, Sturge-Weber, PROTEUS, CLOVES, and the like. Even more spectacular is the Genetic references tables. Powerful stuff!  If you have a desire to help as a proofer, editor, researcher, or otherwise please let me know. Plenty of work to do.

Bill

PIK3CA Genetic Mutation Linked to K-T Syndrome [2nd ed.]

You have been following my journey with a rare syndrome (disease). I can’t begin to tell you how much strength I gather from your notes, “Likes”, and support. I promised to keep you updated as special events and news come about. This is one of those moments. The big genetic research study findings are now publicly reported.

I wrote last summer about Dr. Warman speaking at the K-T Support Group Conference about my diagnosed medical condition now having a genetic link.  This link was identified as one of several now to be linked to a pik3ca mutation. The whole subject of genetics is so very complicated, so doing a Google search and then reading about the various sets of such mutations is a daunting task. To say my condition is a “pik3ca mutation” is to open a can of worms. It would be an over simplification. Not all pik3ca mutations cause the same medical condition. That said how wonderful is it that we now at least know what general room we are in. This is a huge advance and leads us all that much closer to future treatment and care options and protocols. At the time Dr. Warman (the research team) was not yet published. He was kind enough to share research and findings from a big study he and a team of doctors and scientists were doing. We got a great early report.

The study findings are now published. I guess you could say the word is now official. The study report is titled — Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA. You can find the abstract on PubMed at – http://www.ncbi.nlm.nih.gov/pubmed/25681199.

I can’t wait to get the full text. This is a good time to thank my doctor and medical professional friends for being so kind and answering my repeated calls for educational help. Thank you for sharing your time and resources. Try as I might the medical journal articles have proven to be a tough read. It does get easier with each pass and with each lesson you offer. Thank you for encouraging my curiosity! Oh … I’m coming your way when the full text of this report hits my in-basket.

A most important pause — It was 20 years ago that nascent internet search abilities helped me find www.k-t.org. I can’t begin to tell you how important this organization has been to me and so many others, including syndrome-affected and parents, wives, husbands, caregivers, family and friends of those affected by a very rare syndrome (disease). Being able to hear the doctors speak first hand to us folks, us non-medial folks, is an experience like no other. It surely is a difficult task for doctors to explain a very complicated syndrome in a manner that both respects the medical underpinnings and conveys a street-level understanding to those of us who struggle to comprehend technically difficult subject matter. I hasten to add that another aspect of being a part of a pioneering support group such as this is the chance to medically participate in on-going research. The doctor’s research continues on and we were given the opportunity to contribute samples which I hope help the research team move on down this glorious road that much more. Saving the best for last, the friendships and companionships shared by a wonderful group of folks who were thrown into a random room is remarkable.  We are an extended family of bright, curious, warm, and gifted people.

I leave you with this quote from the study abstract on PubMed. In conclusion:

“Somatic PIK3CA mutations are the most common cause of isolated LMs and disorders in which LM is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism because the abundance of mutant cells in a malformed tissue can be low.”

Our time truly has come … Best in life and health to us all!

Best Regards,

William

The ISSVA Diagnostic Classifications

Update [link to see 2018 info]

ISSVA Diagnostic Categories – Matrix Presentation by Seen, yet Not Heard

The above was our best effort in 2014 to present the 2014 ISSVA breakthrough classification protocol for diagnosing Congenital Vascular Anomalies, including Vascular Malformations. In advance of the ISSVA announcement, some of us had the good fortune to hear from doctors presenting it at a medical support conference. If you have the opportunity I highly recommend the K-T Support Conference, typically held biannually in the summer at the Mayo Clinic, Rochester, Minnesota, USA.

Date line 2014 we wrote the following:

The new terms have been a topic of conversation many times throughout the year and even still now. We thought it would be beneficial to have a graphic at our finger tips so the KT Awareness Campaign developed the attached. Very quickly we will follow with the more detailed explanation of this chart. In the meantime, we hope this helps to explain the macro world we live in, so to speak.

Curious? The classic Klippel-Trenaunay Syndrome diagnosis falls under the “CLVM” subclass, under Vascular Anomalies.  Please do not get to worried about labels.  Many of us who are diagnosed as having Klippel-Trenaunay Syndrome have long dealt with being variants from someone’s medical reference book. For example, we have all heard doctors insist that a “hypertrophy” component is required to be diagnosed with KT. In fact you will see language to this affect in the ISSVA notes.

It is not lost on me that many many doctors across the world follow the original classification guidelines by doctors Klippel and Trenaunay that spoke to a combined malformation requiring 2 of 3 components from a list of capillary malformations, vascular malformations and/or hypertrophy.  My doctor does and he is a long standing Vascular Surgeon with KT experience.  Through the power of the internet we participate in many support groups throughout the world.  Interestingly, many doctors outside the USA still use the Klippel-Trenaunay-Weber Syndrome diagnostic label, especially when arteriovenous malformations are found.

Can I make the point — Our medical diagnostic terminology is bit fluid and will likely be for quite some time. Twenty years hanging around with all of you demonstrates one thing for sure — no classic definition proposed, adopted, or used to date begins to explain the entirety of the variability we see in our population. That said, I sense that the attached ISSVA diagnostic matrix comes the closest to describing our community, especially as I look at the entirety of the Combined Vascular Malformations column.

The follow-up ISSVA Notes which are just about ready in handout form really get into the “differential diagnosis” too. These include a laundry list of things like Parkes-Weber, Sturge-Weber, PROTEUS, CLOVES, and the like. Even more spectacular is the Genetic references tables. Powerful stuff!  If you have a desire to help as a proofer, editor, researcher, or otherwise please let me know. Plenty of work to do.

Bill

Be a Conqueror

I’m reminded today by Melissa Cruz Levinson that we, those born with sweet surprises from Mother Nature, can sometimes be our own worst enemies. Melissa observed that so many times where discrimination is concerned, regardless of its aims; it is exacerbated by the very people that it affects the most.  So too is my random congenital challenge.

Melissa’s reflections and words reminded me that I have been working to make constructive and noticeable leaps forward for our KT-community, a family of like affected companions and their caretakers, family and friends.  She further cautioned me to not regress.  Melissa reminded me that I am hopeful. Most assuredly our efforts have required and will continue to require a vividly different approach; breakout kind of stuff.

Yes, Melissa I wholeheartedly agree.

Each of us can bring more awareness to our disabilities or any disability for that matter?  We can make a choice. Melissa proffered a ‘choice challenge’; as I read it, it is to choose between consciously and unescapably being defeated by the very thing we struggle against [not allowing our disability to define us] or reaching deep down and finding the courage to speak frankly and conquer the world regardless of circumstances of birth.  It is to choose to take a different stance than what might be conventional or our first inclination.

Yes!  Yes!  Yes!

Be a Conqueror!  Be a Super Hero!  Be an Innovator!  Be an Inspiration!  Make a difference!

Melissa, you wonderful soul and conqueror, thank you!

KT Campaigns & Logos

Campaign Shirt - Frontside
Campaign Shirt – TriColor

Over the last several months Joshlyn Merchant has worked diligently to find KT symbols, messages, etc. that could be used to rally her community. Her community approached her about doing a walk-a-thon for her daughter. Yesterday, we posted two variations of Joshlyn’s work product. These are the “seeds” now being worked by product-professionals as they develop quality materials to advance the awareness of Klippel-Trenaunay Syndrome within our local communities.

Campaign and personal products are in the works – items like caps & hats, polo shirts, casual shirts and t-shirts, posters, educational materials, and so on.

Caps & Hats .triad
Cap & Hat Logo – TriColor

This endeavor is not for-profit; a coordinated support project for our KT family.We envision having readily available materials, products and planning guides to assist you with your local efforts. We see our efforts as supporting a grass-roots campaign consisting of local and personal efforts that bring our rare syndrome to the forefront in a hurry.

Our KT family has the ability to collectively bring home a vital, coordinated message.

Caps & Hats .blue
Cap & Hat Logo – Solid

The cornerstones of these efforts are common symbols, educational materials, and the like. You have asked, “Where are our posters”? Our response is, “Here”! We are asking you to consider Joshlyn’s work, to adopt it as our communities collective work product. We have a little time before locking in designs with professional-product developers. We are asking you to give us constructive advice pertaining to aesthetics, messages, and so on.

Any effort like this to be successful needs grassroots support. Our efforts are self-funded at this point. The key is bringing cost-effective support tools through volume purchases and selling out these inventories.

Tshirt Front .blue
Campaign Shirt – Solid

We are looking to augment the k-t.org legacy. Mellenee Finger, k-t.org, and I have spoken about our efforts in this matter. As a non-profit endeavor our initial investments are meant to start the ball rolling with the hope that future designs and product will be self-sustaining. Please join us. Let’s bring a coordinated and powerful KT message to our local communities.

03.Tshirt.Back
Campaign Shirt – Back Side

Every campaign, every revolution starts with one person, one idea, and succeeds because the message resonates and a group of people engage. If your community has the desire and wherewithal to do walk-a-thons and so on, this works. We are a small community. Advancing our message necessarily means eventually getting our communities involved. If your ability to engage rests with personally wearing a cap or a shirt and giving people who ask questions an educational flyer, this works too.

Taking the first step is always the most daunting. I thank Joshlyn for holding out her hand and encouraging us to do just that. These are baby steps. We can do this. Please join us.


Pocket Logo .triad
Pocket Logo – TriColor
Pocket Logo .blue
Pocket Logo – Solid

Here we go …

<hr/>

Klippel-Trenaunay explained within context of other vascular anomalies and malformations.  The classification topology is yet again changed. See: https://powerpoint.office.live.com/p/PowerPointView.aspx?FBsrc=https%3A%2F%2Fwww.facebook.com%2Fdownload%2Ffile_preview.php%3Fid%3D644591128967154%26time%3D1401274535%26metadata&access_token=1009313702%3AAVIAtaWo_lAkdaejIPYtSUv2eeMyVfuKk48mPJ5ZjplILg&title=ISSVA_classification_2014_final.ppt

<hr/>

A mental approach to managing pain [2nd ed.]

For my friends who live WITH CHRONIC PAIN, I’d be hard pressed to distinguish my feelings of empathy from those of love. Consider this, I love you all and hope your days get better and better. My friends, with a deep appreciation for your love and support, best in health and life.

The Spoon Theory [Reading suggestion]



http://blogs.psychcentral.com/chronic-pain/2013/05/the-spoon-theory/

The above referenced article is copied to here, after having lost my previous citation an direct linking. I am not associated with this author, but the Spoon Theory comes up a lot in conversations with our community – chronic pain is a common medical-life issue. It is exasperated by frequent Acute Episodes. In my case severe pain was not my childhood experience. As I got older, around 20 it became a regular battle for me. At 66 it saps my strength quite measurably.

PsyCentral Article

A few days ago, a friend indicated on her Facebook page that she had “run out of spoons” and asked for support and energy to be sent her way. I had heard the term but didn’t know what it meant, so I turned to Google and typed in those words and what came up was the explanation that came from a conversation between two friends, one of whom had Lupus.

Christine Miserandino was sitting at a table with her college roommate who asked her what it was like to have a disease that for many people would be considered invisible since overt symptoms may be elusive to the casual observer.

Christine pondered for an ever so brief moment and began gathering up spoons from their table and those around them. As she lay them out in front of her, she explained that at the beginning of any day, she would be given a dozen spoons. Each act, such as getting out of bed, showering, cooking, dressing, driving, going to work… would cost her a spoon.

Since they were limited, she needed to use them judiciously, not knowing what unplanned need could present itself. Some days there just weren’t enough of these utensils to go around and she needed to strategize.

I nodded knowingly as I read this, since as a therapist, I have clients who have all manner of physical and psychological conditions that call for them to count spoons. I started sharing the story with them and they nodded along with me.https://b7a826347b506980e4a26d9c81b4c586.safeframe.googlesyndication.com/safeframe/1-0-38/html/container.html

Last week, I spoke at a meeting at a rehab for people who had experienced Traumatic Brain Injury (TBI) “The top three causes are: car accident, firearms and falls. Firearm injuries are often fatal: 9 out of 10 people die from their injuries. Young adults and the elderly are the age groups at highest risk for TBI. Along with a traumatic brain injury, persons are also susceptible to spinal cord injuries which is another type of traumatic injury that can result out of vehicle crashes, firearms and falls. Prevention of TBI is the best approach since there is no cure.”ADVERTISING

Most of the attendees at the meeting had experienced strokes. I was astounded at the resilience they exhibited. One was a yoga teacher who had partial paralysis on her left side and needed to move that arm with the functional right arm. She has returned to teaching part time from her wheelchair.PSYCH CENTRAL NEWSLETTERGet our weekly newsletter

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On my way over, I decided to incorporate the spoon theory into the presentation. It occurred to me to stop and pick up some plastic spoons to give to them as palpable reminders of the concept. There happened to be a convenience story around the corner, so I walked in and perused the aisles until I found bags of…. forks. Disappointed initially, I decided to add that concept to the mix, since sometimes, to paraphrase Alanis Morissette’s song “Ironic” — “It’s like ten thousand spoons when all you need is a knife.”

When the time came to use the analogy to explain what it might be like for them and their caregivers, I opened the bag and the forks went flying wildly. I scooped them up to the sound of their laughter. They agreed that at times in their own lives, they did run out of spoons, sometimes spoons were replaced with forks; the unexpected situations that might arise and at other times, even they were beyond their control and needed to be gathered together and being able to laugh at the absurdity of it all, made all the difference. I added the reminder that sometimes we just need to ‘fork it.’

A few days later, I was visiting a dear friend who is living with cancer. She has been resilient, doing what she can for herself and asking for assistance when needed. There are times when she suddenly runs out of spoons and wonders where she will find them when the proverbial utensil drawer is empty. That’s when resources present themselves. Before I left home, I took a spoon and fork, tied a red ribbon around them and wrote out a card that reminded her that there is always extra, just in case.

As a caregiver for family and friends over the years, and a professional caregiver for nearly four decades as a therapist, I too have a supply of spoons at my disposal each day that I expend by simply doing my job, let alone meeting personal needs and performing ADLs. I have told myself that I don’t have the luxury of running out of spoons, since I often feel that it is my role to be the one to dispense them and that I have an infinite supply. That belief has proved to be erroneous since in the past few years, I have experienced various health crises that could be attributed to being inattentive to my own spoon supply.

Ways to add spoons to your drawer:

  • Time with family and friends who sustain your energy and don’t drain it
  • Immersion in nature
  • Photography
  • Yoga
  • Meditation
  • Healthy food
  • Walking
  • Working out at the gym
  • Reading
  • Journaling
  • Engaging in hobbies
  • Gardening
  • Support group attendance
  • Massage
  • Hugs
  • Dancing
  • Napping
  • Listening to music
  • Singing
  • Drumming
  • Creative activities
  • Taking a bath
  • Playing games
  • Time with animals
  • Writing music
  • Adult coloring books
  • Going somewhere new
  • Movies
  • Reminding yourself of your accomplishments
  • Scrapbooking
  • Making a Vision Board
  • Having a good cry
  • Throwing a brief temper tantrum
  • Having a good laugh

Download a free copy of “The Spoon Theory” by Christine Miserandino in PDF format

Visit The Spoon Theory’s Facebook pageADVERTISEMENTTraditional therapy – done online

Find a therapist from BetterHelp’s network for your everyday therapy needs. Take a quiz, get matched, and start getting support via phone or video sessions. Plans start at $60 per week + an additional 10% off.FIND A THERAPIST

Last medically reviewed on August 15, 2018Medically reviewed by Scientific Advisory Board — Written by Edie Weinstein, MSW, LSW on August 15, 2018https://b7a826347b506980e4a26d9c81b4c586.safeframe.googlesyndication.com/safeframe/1-0-38/html/container.html

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wisdom trump’s life unexpected

 ♥ ♥ ♥ ♥ ♥
Watch carefully old man,
for to be cavalier and think yourself ever the smarter,
ever the more experienced,
you’ll be humbled by the young person sitting, ever so quietly,
ever so politely next to you.Look closely,
you will see a lifetime of courage and insight gained, pressed in brevity,
then it is proper to see wisdom uniquely guided by the hand of youth;
to know the path forward is lit by a special person,
a young hero.
♥ ♥ ♥ ♥ ♥
 
Michael Politzer - (720x556)

[ … In fond memory of Michael Politzer, a young hero. These words, refreshed today, were my thoughts when Michael passed away two years ago. They stand the test of time for me, as does Michael’s memory. Rest in peace Michael.]

Two years ago we learned that our K-T Syndrome Companion and friend to the world, Michael Politzer, passed away at 18 years of age. I’m not alone in saying Michael will be missed, but never forgotten. Thank you Michael for your courage, friendship, tenacity, laughter, and amazing humanity. Thank you Geneva Politzer for sharing your son with the world and standing with him as you two made this a much better place to be. Much love and affection from all of us.


http://www.pennlive.com/midstate/index.ssf/2012/04/remembering_michael_politzer_l.html – This is a tribute to Michael, written and published by those in his local community. Beautiful tribute for a beautiful soul.

Lymphadenitis, for those who also get lymph node infections [2nd ed.]

Doctor’s article – Lymphadenitis is an infection of the lymph nodes (also called lymph glands). It is a common complication of certain bacterial infections.

Causes

The lymph system is a network of lymph nodes, lymph ducts, lymph vessels, and organs that produce and move a fluid called lymph from tissues to the bloodstream.

The lymph glands, or nodes, are small structures that filter the lymph fluid. There are many white blood cells in the lymph nodes to help fight infection.

Lymphadenitis occurs when the glands become enlarged by swelling (inflammation), often in response to bacteria, viruses, or fungi. The swollen glands are usually found near the site of an infection, tumor, or inflammation.

Lymphadenitis may occur after skin infections or other infections caused by bacteria such as Streptococcus or Staphylococcus. Sometimes it is caused by rare infections such as tuberculosis or cat scratch disease (Bartonella).

Symptoms

  • Red, tender skin over lymph node
  • Swollen, tender, or hard lymph nodes

Lymph nodes may feel rubbery if an abscess has formed or they have become inflamed.

Exams and Tests

The health care provider will perform a physical exam. This includes feeling your lymph nodes and looking for signs of injury or infection around any swollen lymph nodes.

A biopsy and culture of the affected area or node may reveal the cause of the inflammation. Blood cultures may reveal spread of infection to the bloodstream.

Treatment

Lymphadenitis may spread within hours. Treatment should begin promptly.

Treatment may include:

  • Antibiotics to treat any infection
  • Analgesics (painkillers) to control pain
  • Anti-inflammatory medications to reduce inflammation
  • Cool compresses to reduce inflammation and pain

Surgery may be needed to drain an abscess.

Outlook (Prognosis)

Prompt treatment with antibiotics usually leads to a complete recovery. It may take weeks, or even months, for swelling to disappear.

Possible Complications

  • Abscess formation
  • Cellulitis (a skin infection)
  • Fistulas (seen in lymphadenitis that is due to tuberculosis)
  • Sepsis (bloodstream infection)

When to Contact a Medical Professional

Call your health care provider or go to the emergency room if you have symptoms of lymphadenitis.

Prevention

Good general health and hygiene are helpful in the prevention of any infection.

Alternative Names

Lymph node infection; Lymph gland infection; Localized lymphadenopathy

References

Armitage JO. Approach to the patient with lymphadenopathy and splenomegaly. In: Goldman L, Schafer AI, eds. Goldman’s Cecil Medicine. 24th ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 171.

Pasternack MS, Swartz MN. Lymphadenitis and lymphangitis. In: Mandell GL, Bennett JE, Dolin R, eds. Mandell, Douglas, and Bennett’s Principles and Practice of Infectious Diseases. 7th ed. Philadelphia, Pa: Elsevier Churchill-Livingstone; 2009:chap 92.

Update Date: 5/19/2013

Updated by: Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

[Hugs, Kisses & Miracles]

… comment bubble


Empathy scrambles me;
Fixer and lover by birth.

Magic wands not here;
Wallet filled with dust.

Hugs most often find air;
Friends live at distance.

Closely held, escape not pain;
Shadows ever lurking.

Words written meaning to encourage;
Truth, not to ring hollow.

Feeling wanting;
Answers crying.

Hugs and kisses foundational;
Miracles essential, certainly longing.


Hugs, Kisses & Miracles
By| William Anton Lee
© 2014, February 3


Inspired by| Lynn Smith-Loy, Jess “TetleyGirl” Mylroie, Dawne L Lee

Revelation, a Patient Road

…comment bubble


Asking for Revelation while forcing resolution, evolution if you will, is self-defeated when your own words and actions cry intolerance, ego and egotism; rather exude unconditional love and understanding while paving the road to your heart and soul. Truth ought not to use sensationalism or cynicism to be heard because the prior obfuscates and the latter drowns the message. Noise and spite are by no means peace and tranquility or light and focus.


By: William Anton Lee
2014, February 2
Revelation, a Patient Road ©®


Inspired By: John


Selfish Addictions, Not

… comment bubble


Reflected on the news of the day.

Another celebrity passed away from a drug overdose. A lot of attention is drawn to his legacy and so on. One commentator spoke, “The way we talk about a celebrity who ODs says a lot about the way we think about people who are struggling around us. It’s time we tried to understand struggles we don’t endure ourselves. It’s called empathy, and we could all use a lot more of it.”

I differ with the above assessment.

A lifelong walk with a rare disease which includes chronic pain and degenerative realities has me visiting with many like people who suffer through the complications of using pain drugs and so on. The key word used by this author was “empathy”. This an attribute owned by those who have been there. It is by its use experiential and thus limited, not likely or preferred to be acquired in order to assure understanding.

It is far from “cute” to say that the best we can expect from most is “sympathy” and I mean in a charitable sense, not some phony “boy am I lucky, you poor soul” kind of way. It is asking for honest and deeply held compassion for your neighbor. It do not take kindly to elitist sensibilities which choose to see those in need as takers, rather than sufferers.

To see the addict as selfish is to climb aboard the “screw you” train. It provides the convenient excuse to look past rare diseases, congenital disorders, degenerative disease, and  a myriad of accidental placements in life. Did you choose your parents? Did you choose you gene pool?

The human animal is far to complex to be cut, labeled, and packed like a piece of meat. It takes compassion, insight, work and sympathy to best understand why each of us walks, talks, thinks and acts as we do. Five years of psychotherapy might do it, but certainly doesn’t guarantee it. It starts with giving yourself the benefit of the doubt. It is finished by having your neighborhood, your community following in kind.

A very astute friend of mine challenged me one day to not throw a trouble kid on the trash heap of life, when I judged him to be seriously flawed in character. It was a very tough message and a very easy decision. We took him in. Not all of these endeavors work. We’re not Psychoanalysts, gods, prophets or miracle workers. We are people who by fortune have capacities others don’t. It’s not only that hard work pays off.

Does this excuse personal responsibility? Hell no. Does its bends and twists excuse sympathy? Hell no. Like in all endeavors you try. When it doesn’t quite workout, you retool and try again. And when the whole damn thing is a mess sometimes you have to deal with putting the whole project off to the side and declaring lessons learned. In no case, do you scrap the person. Find them a place where they can prosper. Encourage them to come. Never regret having made the effort.

I will not mourn those who fail to try. I will not give celebrity to those who take. I will offer a hand up until I have no more strength or capacity to help. I will offer charity, compassion, sympathy. I certainly hope that empathy is required to wake my soul when I fail to do the above. That said, experience is one mean way to gain understanding and usually offers far more pain and risk of failure than sympathy ever will.

Addiction is rarely selfish, likely self-centered, and always self-destructive. It hides behind the very walls that allow it to thrive. It is like cancer in that once you know of it, the cure is often times fleeting. It requires you to almost kill yourself, to save yourself.


Born Courageous [2nd ed.]

CLICK THE HEADING BELOW TO ACCESS

| A Scrapbook of Inspiration

. . . a worldwide Born Rare Support Project
previously title K-T Courageous

Imagine all of us submitting for publication in a world-class Coffee Table-Top Scrapbook an engaging photo or two along with a brief message or even a synopsis of our life to date. This will be a child’s dream book; and for us adults a comforting memory that we are not alone. We are doctors, attorneys, paramedics, psychologists, patient advocates, mothers, fathers, professional golfers, popular musicians, artists, entrepreneurs, motivational speakers, researchers, teachers, engineers, mechanics, race car enthusiasts, radio personalities, students, and so much more. Imagine with me. Every K-T Kid in the world will now have a ready reference book that surely let’s them know they are not alone and all things are possible. PLEASE join us. Help us to celebrate our wonderful Klippel-Trenaunay Family. Help inspire generations to come.


Spirit Rising, Arrows Broken

Arrow unknown, even unexpected, surely unwanted;
Pain revealed, oh so consuming;
Mantras waning, slowly quieted;
Storms gather, collecting broken umbrellas;
Bluster banters, haunting familiar noises;
Eyes deceive, painting eerie canvas;
Ears endlessly play, uttering nonsense.

Bow strung, second arrow quilled;
“So it is,” mental anguish denying;
Ego argues, ego answers;
Devils tempt, fantasies tantalize;
“So we wish,”sensibilities captivated;
Arrows mounted, ego targeted, wounding all afresh;
Pain revealed, pain recalled, oh so consuming.

Spirits consulted, confounding whispered truths;
Perfection tethered, predictions quartered;
Embracing roads travelled, regrets released;
Noises quieted, rejoicing in mantras old;
Demons wrestle, pushing pain’s resurgence;
Arrows broken, follow lowered shields;
Spirits rise, peace restoring.

William Anton Lee
2013, October 13

… Dedicated to my K-T Companions who inspire me daily to look ahead, to be grateful that each day brings life, to seek balance in accepting pain without acquiescing to the Jackals that follow it, and to recognize “normal” isn’t a Norman Rockwell painting – rather, it’s a mosaic of the unexpected, never ending dreams, and a dedication to live life unabated albeit interrupted from time to time.

Jasmine, Pine and Bosom’s Warmth

Echo’s harmony, singing wistful poetry;
Squirrel’s barking, chasing shadows mocking daily drudgery;
Jasmine, pine, fragrances a mystery, leaving unsuspecting memories;

Waking flashes chasing dreams, a patchwork quilt of uncertainty;
Custard shadows, soft creases, Comfort’s unwitting masters;
Crystal blues, magnetic attractions pushing past softened smiles;

Restive dew, glittering, clinging to Whisper’s song;
Breathless flittering, caressing leaves, recalling silken hair;
Golden reflections, Bosom’s warmth mimicking;

Ebbs and flows rushing, uncovering forgotten gems;
Mystery abounding, passion questioning Destiny’s resting place;
Knees faltering, seeking certainty, misty lashes hinting;

Leaves rustling, drawing wanting glances;
Innocent glances, querying reflexive memories;
Unexpected pondering, of jasmine, of pine, of Bosom’s warmth;

Chance waiting, guarding soften harmonies;
Squirrel’s barking, drudgery plotting, Passion wandering;
Crystal blues, soften smiles and silken hair harkening;

Hearts awakening, thinking certainty;
Gems sparkling, overshadowing morning dew;
Poetry anew, of blues, of custard, of creases, of misty lashes.

Love abounding, caressing passions due;
Custard shadows, soft creases foretelling Comfort’s satisfaction;
Soften smiles, crystal blues assuring, Echo’s harmony singing blissful poetry.

Willi=Anton
2013, July 20

[Building a Life & Wooden Track]

Building wooden train track with your grandkids is a life lesson. Start with the Round House, home, noticing a choice of multiple directions, arbitrarily select one direction because it feels right; work your way up to a Bridge while digging around for a tiny little Funny Piece, otherwise adapt; cross the bridge without accidentally collapsing the deck; choose the right Ding Ding, a kid’s pleasure; circle around and back and across and back until a Switch seems right; work you way back to the Round House but not before passing through the Maintenance and Repair Shop with a quick visit to the Wash House; pause and breath while planning how to finish off the other Spurs knowing that at least one track still needs to work its way back to the Round House – it’s the Switch you thought was needed earlier; seriously consider adding in a few Stops to make your job easier; listen to the kids making hay about your design choices and offering sage advice on how wooden track should be laid while deconstructing your best designs. Lesson learned! We get inspiration where we can and it’s the most unexpected and littlest things in life that provide the greatest insights and pleasures. No matter the design, chosen pathways, obstacles, adjustments or the critiques, life has a funny way of working out and brining you home, provided you keep your head down, work smart, and listen to the innocents among us who understand there is always a creatively simple solution which is usually different from the one we conceived or chose.

William Anton Lee
2013, May 19
[Building a Life & Wooden Track]

Cause of Sturge-Weber Syndrome is Discovered [2nd ed.]

Mark this Day in History


K-T SYNDROME FAMILY AND FRIENDS

IMPORTANT ANNOUNCEMENT

GREAT NEWS

The cause of Sturge-Weber Syndrome, a sister diagnosis to K-T Syndrome, has been identified. Read the enclosed. There are also direct references to this discovery also explaining Port Wine Stains (all too often called birthmarks). We are extremely close to this and this discovery means we are probably not that far behind.

http://healthfinder.gov/News/Article.aspx?id=676242

From the Institute itself:

http://sturgeweber.kennedykrieger.org/news.jsp

[Be Not Alone]

Whether fear, trepidation, passion or affection, all play for our heart hoping to gather our soul and distract the mind. Some of these we favor as sunlight, others we banish as darkness. When called their are Angels in our midst who walk with us through darkness, just as their are Shepherds who guide us by daybreak. Sing through the night – dance through the day – and should the Moon rest and the Sun blind, reach for the subtle touch of angels and shepherds.

Caution! Hearts are at play with little understanding of emotion or endeavor. Gathered souls! Distracted minds! Flittering Hearts! These matter much and stand loneliness up. Listen carefully for sweet music calling us to sing and dance. Free your soul! Settle your mind! Guard against blindness causing angels and shepherds to pass-by after momentarily standing before us. Let not doubt, rationality, willful silence or stubborn blindness keep you from affection.

Be not alone, for we are not alone!


William Anton Lee
2013, May 6
[Be Not Alone]
First Draft

K-T Syndrome a Shared Road Traveled

Many of my younger K-T companions wonder what their future brings. It brings you hope. It brings you love. It brings you challenges. It brings you lovely people who gladly travel with you through remarkable journeys. It brings you friends for life. Bear with me as I explain. Dawne Lee, this remarkable lady, has stood by my side since we met. Her K-T story like most life stories is best told in person, but then to wait to do so would mean you, my extended family, wouldn’t hear it. Her K-T story is a shared story.

I was 18, Dawne Leslie Wood 17, when we met. We married at 19 and 18, at what most think of as an early age, and we have unwittingly traveled the K-T road together ever since. While a completely distinct story in and of itself, this journey was quite unexpected as I was certain I would not pursue marriage until after I was 30 years old. In no way is this a patent endorsement of early marriage, although I wouldn’t change one thing about my youth, our storybook meeting, or our decision to marry, not only early in life, but early in our relationship.

Every life has its rhythm and the music it generates is as unique as any song written across generations. There are moments when we look to favorite songs and wonder is this my story. Maybe we take inspiration and set about to travel a like journey. Other times we sense others are walking our road. In the end, we write our own story and revel in how great it is that were it a musical score it surely would be a different, vibrant song; and beautifully ours. With that in mind , this is only one K- T story among many and is by any account also only one love story.

Today, it is impossible to separate my feelings from Dawne’s. It is impossible to separate my joy and pain from hers. I make no secret that I’m 58 years old. The math is simple, that’s 40 years of listening to laughs, but yes also moans and groans. That’s 39 years doing so as we attempt to sleep at night. That’s hours and hours of leg massages hoping these will bring restive sleep, so many times without a thank you or even a glancing smile of gratitude because sleep came to me before Dawne finished.

For just over 20 years, the early years, Dawne dealt with my random yet constant periods of bed rest to cure stasis ulcers, never to forget her unflinching and quiet care for our children while having this big kid down for the count. After about a year of marriage Dawne worked the next 4 years while I went to college. She provided me with tons of encouragement that many seasoned marriages struggle with – we were newlyweds and she conspired with my father to move into his home and insist that I attend school without the distraction of work. Dawne knew me better than myself and she laid the foundation that forever is the confidence I rely on today. There is virtually nothing I won’t try to learn because Dawne’s faith and support tore down a barrier built by my educators from K through 12. Yet again, another story.

The first 20 years I speak to here were magical, yet it is the next 20 years that shine an ever brighter light on unwavering and unconditional love. Dawne’s first 20 with me were a mystery tour. My medical problems were constant, but from causes unknown. When the doctor called her in as his moral support – she came without hesitation. Diagnosis Permanent Disability, cause unknown, life prescription 20 hours recumbent and 4 hours ambulatory were his words. Without blinking an eye Dawne turned to me and said, “You did your 20 years, now it’s my turn.” Without breaking confidences I must say Dawne misses important considerations to this day when she discounts these earlier years and her heroic work to once again provide encouragement and support at a time in my life when I needed it.

As the story goes, we’re in the first 5 years of our second 20 and the diagnosis changes from cause unknown to Klippel-Trenaunay Syndrome. The prescription changes for a substantial duration to remain recumbent the entire day except for potty breaks. You get the picture. Our children are now middle school age, active beyond active. Dawne is re-entering the job market to assume the primary bread winner role. Me, I’m knocked out on pain medications, unable to walk the staircase to our 2nd story bedroom, and fearful I will be unable to walk at all. The world is on Dawne’s shoulders. There is so much that needs saying, but I leave it here. Dawne’s own medical story is replete with struggles that send many people to the sidelines of life. Yet, it is my pain, my handicaps she carries and resolves.

These last 20 years now have reached another milestone. You might say we are in what is inevitably the last 20 years. Stop it … I’m not staring down death. Or, at least I pray not. It’s just that life from age 60 to 80 writes new chapters that are distinctive. I reflect more. I listen to young folks more. I find myself reaching back and checking my pace of life and times missed to say thank you to so many people who have made my life interesting. Mostly, I jealously guard my relationship with my wife, Dawne, and hope that she knows just how much she is me and I her.

You meet Dawne regularly here. She befriends my friends, you. She tracks birthdays. Her heartfelt compassion extends to you and your families. She marvels at our friendships and unjealously supports our time together. If ever the words “… and the two shall become one” were not figurative, surely these describe our relationship. I noted earlier, it is impossible looking into Dawne’s eyes and not see my pain, to not see my journey because it is hers. Caitlin Marsh, a K-T Companion, so eloquently described a her mother’s love for daughter – a love affair by virtual of motherhood. Beautiful! I add here a wife’s love for husband – a love affair by virtue of choice. I proffer that motherhood and marriage are anchored in one of life’s bedrocks – a women’s passionate, unassuming gift to those she treasures more than her own life.

Thank you Dawne.

A Bowl of Spaghetti [2nd ed.]

One of the most revealing doctor presentations at several of our Rochester Bi-annual K-T Meetings was offered by Dr. Burroughs. She is an Intervention Radiologist who is in many respects a pioneer in the treatment of K-T. Her work allowed us to see the “unseeable” and introduced techniques that carefully treat what inexperienced doctors seem to guess at.

I have no way of knowing whether the work done by Dr. Burroughs is considered medical legacy now, but it is very satisfying to see other doctors speaking and showing their work which parallels the Doctors. Is this magic come to life?

Looking at our affected areas with the naked eye we see one or many of these things: mosaic colored skin; veins popping out of the skin (varicose veins); fatter/longer legs, arms and/or trunks (hypertrophy); lymphatic blisters (blebs); spider veins; some skinnier/shorter legs (hypotrophy); open skin sores (stasis ulcers); and body parts that develop erratically, if at all. A big part of our human makeup is to focus in on what we see and allow this to become our focus, our reality. The Doctor permanently changed this natural bias for me. Let me explain.

Dr. Burroughs showed us pictures of the peripheral and deep veins of K-T patients. These weren’t perfect color Kodak moments, but even in black and white these revealed why we suffer so and why surgical procedures that target a single vein or even a couple of veins are so likely to fail overtime. Our Circulatory System is nothing like our parents or the pictures we imagine based on high school biology class.

That wonderful picture we all saw in high school biology that shows our arteries and veins looking like a perfect tree with sensible limbs and branches just isn’t us. Think more like a bowl of sticky spaghetti which begs to come out in clumps and not one noodle at a time. Imagine now that when an inexperienced doctor surgically removes or closes one of those irregular noodles – another couple of dozen which were “protected” by that bad noodle now become the primary pathway after surgery. This stark reality means that we see “new” K-T veins when in fact these malformed veins have been there all along.

I can’t speak often enough or loud enough. Please ask your doctor how many K-T operations they have done and what the results were before agreeing to going under the knife. It’s not even a matter of now many they have seen. Ask them if they have an Intervention Radiologist on their team and if this doctor will be the first to examine and operate. Ask them to show you those wonderful black and white pictures that only Radiologists can produce before agreeing to medical intervention. K-T Syndrome is a BIG PICTURE disorder and underestimating its pervasiveness is unwise.

What we see with the naked eye is by far a very simple representation of our actual disorder. Fight like crazy to get a Case Manager from your insurance company right now because our syndrome is not something to be handled like the common cold or even a heart condition. Our medical journey is lifelong and demands an early road map which technology provides now, albeit very expensively.

I highly encourage you all to fight like crazy to get to experienced K-T Surgeons and Intervention Radiologists on your approved medical team. Pick up the phone and call the Mayo Clinic in Rochester, the Boston Children’s Hospital, and/or the Cincinnati Children’s Hospital and ask for every possible business solution to get their K-T team of doctors on your team. I’m betting that if being in their facility isn’t practical, they will seriously consider consulting. If you have had similar experiences to those I express here, that is exposure to multidisciplinary teams with experience in the advanced treatment of K-T Syndrome, then please post here and brag about that team and speak to their techniques.

Our community is at critical mass now. We can help each other by telling our stories no matter how routine or extraordinary. As always, thank you to this amazing extended family. The strength and future of K-T treatment is largely due to this community, its pioneers and its contemporary participants, advocates, and medical professionals.

Cherish Life Created

Nurture your students’ passion. Discover their mechanics. Lead them to resources. Encourage exploration. Give their teachers freedom and time to probe, to assess, to experiment, to adapt, to teach. Shy away from cookbook strategies, materials and tests which do little more than presume your child fits. Rather, your child is a mosaic, a genius within. Let them be in it. Let them be it. Gaze across the room then. And, only then. See reflectively life created, life cherished.

Willi-Anton
First Draft
2013, April 29

Raise Your Sail

As you sit in the Calm you can choose to nothing or to fear everything – or, you can raise the sail in preparation of the wind which will inevitably stir in the moments immediately after resting from your productive exercise. This is not faith, this is a deep understanding that life demands constructive actions even during the most difficult of times. This is not impatience, this is foundational. It is far better to prepare for the wind, then curse the quiet – else you will certainly sleep unprepared and wake up having unwittingly traveled from Calm to Calm.

William Anton Lee
2013, April 27
[Raise Your Sail]

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