… a living book, a work in process
This living book is the first in a series with an eye towards narrowing the information gap that parents, kids and adults having Klippel-Trenaunay Syndrome (K-T, K-TS, KTS) often experience.
Medical professionals are often not familiar with K-T. Born in 1954, I wasn’t diagnosed until 2002. The journey thereafter was more frustrating than any life event ought to be in today’s medical world.
Inspired to make a difference for the next K-T kid, we start here!
All Copyrights/Rights Reserved
Seen Yet Not Heard ©2011 ®2011; Seen Not Heard ©2011 ®2011; Yet Not Heard ©2011 ®2011; KTS kids ©2011 ®2011; K-TS kids ©2011 ®2011; KT kids ©2011 ®2011, KTS keynotes ©2011 ®2011; K-TS keynotes ©2011 ®2011; K-T keynotes ©2011 ®2011; KTS Connection(s) ©2011 ®2011; KTS Connection(s) ©2011 ®2011; K-T Connection(s) ©2011 ®2011; KTS Mentor(s) ©2011 ®2011; K-TS Mentor(s) ©2011 ®2011; K-T Mentor(s) ©2011 ®2011; KTS Companion(s) ©2011 ®2011; K-TS Companion(s) ©2011 ®2011; K-T Companion(s) ©2011 ®2011; K-T Companion(s) ©2011 ®2011; KTS House ©2011 ®2011; K-TS House ©2011 ®2011; K-T House ©2011 ®2011; including the use of the unabridged name in conjunction with entities listed here as reasonably referenced herein as KTS, K-TS, K-T and meaning Klippel-Trenaunay or Klippel-Trenaunay Syndrome.
I respectfully share the following keynotes which are synthesized from years of listening and living the K-T life. These K-T keynotes* are:
- Be patient!
- Be positive!
- Build strength of character in yourself and K-T kid!
- Professional and timely diagnostics!
- Prevention of unnecessary or unwitting damage!
- Personal and parental advocacy, particularly when it comes to the medical community!
- Insist on professional diligence, system mapping, prevention and conservative care!
This K-T Kid’s Perspective
So what is a practical definition of Klippel-Trenaunay Syndrome? This deeply complex medical condition is:
- Foundationally active only during gestation;
- Principally defined by a triad of venous malformations, capillary and/or lymphatic malformations;
- Regularly queued by varying patches of pastel reds and deep purples;
- Periodically queued by veins that look like there bubbling up to the surface of the skin;
- Periodically queued by limbs and/or torso overgrowth or missing appendages;
- Clinically identified using specialized imaging technologies;
- A congenital, non-inheritable syndrome;
- A hidden blueprint with a propensity for complicating post-birth maturation;
- A degenerative condition causing life threatening infections such as cellulitis and sepsis; and
- Often a contributing, if not the initiating, factor in muscle weakness, chronic pain, chronic venous insufficiency, locked joints, limb growth differentials, limb amputations, peripheral neuropathy, gastrointestinal bleeding, rectal bleeding, lymph blisters (commonly called blebs), stasis ulcers (commonly called skin ulcers), tinnitus, and other correlated conditions.
Klippel-Trenaunay is wickedly unpredictable. For reasons as yet unknown to doctors, the K-T mechanism turns on at different times and for different durations during gestation. Current research is focused on identifying the chromosome aberrations that are indicative of our syndrome. We’re extremely happy this research is ongoing. For a syndrome identified in 1900, doing so would be medical progress. A point of clarification for those that report the source of K-T has been identified (referring to 2004 studies), these are speculative findings. I’m reminded that correlation is not causation and these studies have yet identified, predictively how the identified mechanisms control or cause K-T. Further complicating concrete conclusions about Chromosome 18 are the times when the identified aberration on the chromosome doesn’t result in congenital aberrations.
What I See
The unique and varied appearances found in the K-T population may include babies with girth and length discrepancies at birth. A fair number of kids like me are born without these conditions. Some K-T kids develop these conditions as they grow. Others, side step these growth issues and their muscular-skeletal growth patterns are every bit as normal as those kids without K-T.
Adults with K-T almost universally experience early system degradation due to aberrant blood and lymph flow. In short, we appear to age a little faster than the general population once we hit mid-life.
The good news in 2011 is that we have several top-notch medical doctors who know Klippel-Trenaunay Syndrome. By all means I encourage parents with K-T kids to get to these as early as possible. You’ll find a product I developed called K-T Connections on this website. The Klippel-Trenaunay Support Group, otherwise known as K-T.ORG, is authorized to use the connections product and may publish it on their public service forums. This nonprofit group is the pioneer in K-T Support, originating in 1968. It sponsors a bi-annual convention open to all including parents, K-T kids and medical providers. Their public service forums include their corporate website, k-t.org, their Facebook page, k-t.org, and their email support group service.
An Open Letter to New Parents
Dear New Parents,
Welcome. I have been diagnosed with Klippel-Trenaunay Syndrome. My journey there has been unusual. You may be feeling a bit apprehensive right now. I’m encouraging you to take a deep breath and to trust that your journey will be easier. Many answers to your questions will come soon, others will likely have to wait until your baby is a little older. The good news is medical science today is so much further down the road than when I was a kid. Even better, social networks will provide you contacts with the world-wide K-T community. We are happy to walk the road with you.
Let’s begin. Was your beautiful child born with muted red and deep purple stains on their skin? If so, are you noticing patches of color that vary in size or maybe even extend from head to toe? When you asked the doctor, did he/she likely described these mosaics as Port Wine Stains, Vascular Birthmarks, Birthmarks or Hemangiomas? Did a doctor give you a preliminary or speculative diagnosis, say Klippel-Trenaunay Syndrome. In any case, I’m sure your level of curiosity is heightened because you don’t recall seeing other babies with similar anomalies. I understand your interest. If you stumble around my journal here, you’ll see that I have a deeply personal interest in helping parents of kids, as well as, kids with Klippel-Trenaunay Syndrome including those with Port Wine Stains, a common manifestation of this congenital aberration.
Born in 1954, I too had a similar mosaic of color. My parents were equally curious. In their day access to quality medical information about babies like us meant they were given wrong information about me. Sure, my parent’s experience could have been attributed to
the relatively small number of kids with conditions like mine; and certainly the general practitioners of the day were generally taught little about these unusual conditions. Truth be told, a curious practitioner even in those days could have provided more complete information and could have been more forthcoming. The condition was first described by French physicians Maurice Klippel and Paul Trénaunay in 1900, a full 54 years before I was born.
“It was, what it was” to put a twist on a modern-day expression. As such, I banged through my childhood and early adulthood with little practical knowledge about my condition. I had a “birthmark”, to be exact, nothing more than a superficial stain on my skin. Wow ….. , did my life dramatically change just after my 18th birthday. What had been nothing more than nature’s artwork, turned out to be a stealthy cover for complex systemic aberrations. These hidden conditions had long been degrading multiple systems within my body. What had been explained as “just a birthmark” was anything but. The details of what I call my early-period revelations are being saved for future writings.
The point being made here is that you and your baby will not repeat this legacy as you have access to very informed doctors these days, albeit they’re only a handful, but they’re outstanding. Also, you will soon meet street-level friends in the World Community. It’s a virtual (in every sense of the word) neighborhood of soon-to-be friends. These are KT-kids, as well as their parents, who have lived through the days when little was known and therefore are motivated and happy to share the things they’ve learned along the way. You can find many wonderful resources listed here as various links to support groups and doctors. A resource created by myself with the contributions of many is made available at no charge to the Klippel-Trenaunay community – look for K-T Connections.
Please count me as one of your new K-T friends.
Let me start simple. I will never use the word birthmark, in any form, to describe the painted legs that define me, nor any other person like me. That word more than anything in my life betrayed and misinformed not only this child but medical providers and, as it turned out, government institutions commissioned to care for me and kids like me. As for your baby, know one thing for certain, like every child he/she is unique. This is ever so true of us K-T kids. Some of us will be challenged early, yet others will be challenged more as we reach puberty and then adulthood. All of us will certainly be challenged sometime in our life and usually no later than midlife. Rest assured we’ll let you know when to worry. You’re raising a hero, which will become more and more apparent to you as the days go by. Your child will show you strength of character many people will never understand and evidence of that strength will be your baby passing off the difficult as routine.
As a kid I always marveled at my built-in and very visual thermometers. Muted red means warm enough for shorts. Deep purple means cold enough for long johns. I even enjoyed grossing out my buddies by closing down my varicose veins with one thumb while pushing the blood up my leg with the other. “Poof”, like magic, there they were back to normal gloriously filled with blood. Somewhere in this journal I have pictures of those veins – you’ll get the picture (so to speak) after seeing just how obvious these things are. If only then I had known I was giving my friends valuable biology lessons, I would have charged admission to the show. I respectfully submit that given a chance at a healthy and balanced childhood your baby will see themself as simply another kid in the neighborhood. Yes, of course there are things they will do and things they will adopt to better fit into the picture, but what kid doesn’t do that anyway.
A bit of personal reflection by this old man, a favorite band of mine as a young boy growing up was Deep Purple. I say this choice was seriously subliminal as my funny colored legs didn’t define me. Sure, there was the occasional adult who had to ask, or at least stare for what seemed endless minutes. And, there was the once-in-awhile bully who thought the retort “cherry legs” was the best putdown he could come up with. But, quite frankly, friends and strangers rarely took notice or cared to call me out on my funny looking legs. I kid you not – I was regularly ridiculed about my big ears and big smile. I was all teeth and ears. These more regular distractions left me little time to over worry about having painted legs.
I have attended numerous conferences on Klippel-Trenaunay Syndrome, Vascular Anomalies and Vascular Birthmarks. The one constant I have witnessed and heard is that K-T is a tricky syndrome. The crux of the problem is that it is a congenital syndrome that takes on common traits but with wide variability as to aberration within these traits. It impacts a wide variety of body systems. Doctors speculate these clinical realities are because the “triggers” for this congenital syndrome turn on at different times and for different durations. This behavior leads to the variability we see. Some of us have K-T caused aberrations in the lower extremities, some the upper, some the torso, some right through to the neck. K-T requires patience and thorough examinations. It is not a superficial condition and as such it often involves complications in our internal organs and muscular-skeletal systems. The common thread among us is our vascular abnormalities and a strong propensity to be marked by Port Wine Stains. In its most extreme condition K-T has caused hypertrophy, hemitrophy, and/or girth differentials in a number of my K-T friends.
I’m not a doctor. It bears stating that any counsel given here is based on my personal experiences. In short, my condition informs my counsel. Looking at my legs you see a condition that is bi-lateral from hip-to-toes with significant pelvic involvement. It is multiple-system involved, including peripheral and deep systems. These include venous, lymphatic and capillary malformations along with neurological complications. I have 50% presentation of a Port Wine Stain on both extremities. My deep vein is missing in the right extremity and grossly incompetent in the left extremity. I have severe varicose veins throughout both extremities and feet – these clinically have led to Chronic Venous Insufficiency. Additional complications for me now include chronic and degenerative peripheral neuropathy which shows in a small subset of patients. The sad news for me is that this latter complication was avoidable; it was accelerated by improperly prescribed compression stockings, which I wore from age 19 until 42.
My short-list advise is to stay clear of doctors whose primary experience is exclusively with Hemangiomas and Vascular Birthmarks. The medical expertise to deal with Klippel-Trenaunay Syndrome is most often not resident in these doctors. In no way am I discounting another group of special kids with these medical conditions and who need attention every bit as much as kids like us.
Kids with Hemangiomas have very challenging lives as well and are benefiting from wonderful and relatively new technologies. Specialized lasers are resolving these vascular tumors. I’ve visited with several of these kids who have undergone laser treatments. Their before pictures and live results show absolutely miraculous results.
To be clear, the treatment of Klippel-Trenaunay Syndrome is commonly more intrusive than laser treatments. If you haven’t already, please seek out Vascular Surgeons and Intervention Radiologists who advertise Klippel-Trenaunay Syndrome in their Resume’. The K-T Connections directory may help you get started on this endeavor. As a general rule, avoid Dermatologists. I mean these talented folks no disrespect, but their expertise goes basically skin deep (humor intended) and you’ll learn soon enough that Klippel-Trenaunay is a deeply systemic, deeply complex, multi-system disorder.
All this said, an Army OB/GYN Doctor advised my Mom and Dad saying, “He’s a child, raise him like any other child.” And my parents did exactly that. We did not know my “birthmark” was anything special then and in a weird way this naivety provided us with a useful prescription. It allowed me to grow up with a healthy and normal ego. And to be honest, that foundation has been far more beneficial to me than any of the downsides to not knowing exactly what was wrong with me. Don’t get me wrong, it would have been better to know the gory details and still be raised as I was. But given the realities of the day, the healthy ego thing has really paid off.
Congratulations on parenthood. Feel free to ask away. Future articles here will be a best effort at documenting my history with K-T and some hints I’ve picked up along the way.
Your Friend in K-T,
William Anton Lee
Klippel-Trenaunay: A Street-Level View
When you read the professional literature on Klippel-Trenaunay Syndrome (K-T), regardless of who publishes it, the content will likely confuse you, scare you and in some cases have you in tears. Stop for a minute here and read my take. It’s an unconventional approach, for no other reason than this syndrome, and many of the people who have suffered through it, deserved better than the prolifically poor information passed off as subject matter expertise. You are likely a new parent trying to understand what your child’s needs and challenges might be and you deserve better. Take note: I’m not saying the professional literature is wrong; that’s above my pay grade, as the saying goes. I am saying that it is way too clinical – way too focused on the worse-case scenarios because that’s what the doctors have seen – way too incomplete.
Muted Reds & Deep Purples, or Not
First, when you look at your child what do you see? Does he/she have odd-looking reddish to purplish stains on their body? Are these stains a single splotch of color? Does it extend from hip to toe on a leg? Does it reside on an arm or neck or back or buttocks? Does the affected area look like it has veins that bubble up like grandma’s? Does the affected area look like it’s bigger or bulkier? Does the affected area look like it might not have developed normally as in maybe a missing toe? Are there no stains, but one of the other things I said is a reasonable description of your son’s/daughter’s condition? Quite bluntly, each and every one of these conditions is a plausible picture of Klippel-Trenaunay Syndrome. It’s a very tricky and complex disorder.
Within this brief article, there is no practical way to show the wide-ranging conditions of K-T using pictures. The variability within the K-T community is huge. On the flip side showing a limited number of pictures might give folks the false sense that this is all there is. Were the public to draw this conclusion, it would be unfair to those K-T kids with conditions that are more remarkable than those presented. All things considered, I decided to place a few pictures here because the abstract view of K-T is far more confusing than the limited view. In time I hope to show a more complete album, although this goal is subject to help from the K-T support groups I participate in. I’m hoping K-T friends will agree to have their story in pictures published alongside mine.
Both Legs and Feet
No Deep Vein
Localized Capillary Malformations
How does this happen? How can K-T look so different, yet be the same syndrome? In short, K-T screws up the construction of our normal plumbing during pregnancy. This feature of the syndrome is the one constant we all share and, interestingly, it is this common thread that is the basis for the wide variety in our topologies, our conditions. Apparently, the unknown mechanism that causes K-T has a nasty habit of turning on at different times and for different durations during pregnancy. The earlier and the longer the K-T mechanism is active the more screwed up our plumbing gets. And the more screwed up or plumbing gets the more screwed up our muscular-skeletal systems and internal organs get.
Klippel-Trenaunay is unpredictable. During gestation a baby develops multiple layers of body systems in concert. A co-dependence exists between our plumbing and the skin cells, nerve cells, muscle cells, and so on. Each of these multi-level systems relies heavily on the availability of healthy and regular capillary, vascular and lymphatic systems. If these fail to deliver timely and balanced levels of nutrients, then co-related body systems tend to follow suit. It’s a delicate balance . With an over-abundance of blood delivered, an over-development of the targeted muscular-skeletal structures and internal organs often occurs. In these latter cases, doctors use the terms hypertrophy or hemitrophy to respectively describe issues of overgrowth in limbs and the torso. Conversely, under-development or no-development occurs when the opposite conditions exist. There are, and will be dramatic cases where limbs and appendages don’t regularly develop.
What’s a Person to Do
To the new parent it has to be difficult to know what to do, or what to think. If the port wine stain is the most visible sign, you imagine your baby having one set of challenges. If your child is born with hypertrophy, you may imagine a whole different set of challenges. These are proper feelings. I wish I had permission to write and publish each of the many K-T stories I have been told over these latter years. The most challenged of us Kt kids leads a life inspired. They go to school, have a circle of friends, go to senior prom, write books, teach school, open businesses, have kids, and in many cases accomplish things kids without K-T never aspire to. Don’t get me wrong sometimes the path-walked is scary, other times it’s easy. What makes the going good are the parents and family that walk the road with us.
The one constant for all of us is the “waiting game.” For most of us imaging technologies are not, as of yet, able to map the aberrant vascular structures until we’re young children. Babies veins are too small for invasive procedures and other less invasive imaging equipment is not discreet enough to show intricate malformations. This means that at times children are growing irregularly after birth and the underlying mechanisms that are feeding or starving this maturation remain unknown. For others, the body remarkably compensates for aberrations and these KTS kids will tell you that they find little distinction between their life and their siblings or neighbors.
Patience and diligence are key!
FUNDAMENTALLY IT’S PLUMBING
Why a lesson in plumbing?
The human body survives through a network of flexible pipes that are designed to (1) feed our muscles, ligaments, bones and brains, and (2) to clean up after the feeding frenzy. Clean up returns usable material to our lungs and heart for recycling and dumps toxic waste that is unsafe or impractical for recycling. So like house plumping, human plumbing consists of pipes that deliver, vessels that hold, and pipes that discard. Respectively, these features are arteries and capillaries, followed by muscles and skeletal components, and ending with capillaries, veins and lymph vessels.
Klippel-Trenaunay Syndrome (K-T) corrupts the construction of the majority of the aforementioned plumbing, as follows:
- All of my K-T cohorts are born with venous malformations which are somewhere, but not usually everywhere. These aberrations are not seen by the naked eye. The exception would be varicosities to the peripheral veins which where the veins closest to the surface of our skin. These cause our veins to puff up and become visible. The latter condition not usually visible at birth likely shows early in childhood and continues to show more and more as we age.
- Most of my K-T cohorts are born with port wine stains which are patches of skin that appear colored in muted reds that regularly turn deep purple when exposed to colder rooms or colder weather. These odd mosaics are caused by capillary malformations which when visible to the naked eye tend to be flat in appearance leading early observers to improperly call these birthmarks. These usually do not grow in size or shrink over time – these tend to be visually stable other than the very fluid and cyclical changes in color.
- Many of my K-T cohorts are born with messed up lymph vessels which are often not apparent at birth. Typically the outward signs of these aberrations are mild to gross swelling of the areas where the vessels are malformed and/or lymph fluids bubbling up through the skin. Often mistaken for water blisters, blood blisters or dark black pimples, K-Ters call the latter outbreaks blebs. In the more advanced cases the body tissues can swell quite a bit giving the affected area the appearance of blowing up like a balloon.
It’s best to think of K-T as an active agent during pregnancy. The difficulty in understanding its destructive force is the very nature of the components it has affected and the reality that it does its work during gestation. The physical change it makes to veins, capillaries and lymph vessels are not generally visible to the naked eye. Those aspects which are visible only hint at possible complications, but are not prescriptive in and of themself. Further, modern medical technologies for most cases are not useful at birth. Apparently, imaging technologies that peer under the skin do not accurately map vascular malformations until the child is older. Semi-invasive technologies like venograms can’t be done on babies due to their very small veins so this procedure waits for latter-childhood as well.
People have often asked me. Does K-T stay active after birth and continue to cause developmental problems. I believe the technically correct answer is no. The vascular system tends to be what it is once born. But this is no consolation to a major segment of the K-T community because they see major changes to their babies as they grow into young children, then teenagers, and then onto adulthood. If Klippel-Trenaunay is a gestational disorder why then do we continue to see dysfunctional changes in our bodies? For example, why do some of us see an affected leg grow longer and wider? Or, why do others develop problems with internal organs during puberty? It’s the blood. Well, to be more exact the blood delivery system. When the hidden vascular delivery system is larger or more diffuse the muscular-skeletal components are over-fed. This saturation of nutrients and oxygen provide the environment for disparate growth. While K-T itself is no longer active the destructive blueprint it left behind continues to mess with our developing components. As is the case in puberty, many of our body systems grow throughout our formative years.
The K-T story almost never ends with birth or childhood. All humans understand this degenerative reality. We get old and start falling apart. This process for older KT kids (adults because we’re always kids at heart) can be accelerated by our malformations. There’s the somewhat common varicosities that worsen as gravity becomes our worst enemy. Bacteria that find convenient pathways to a struggling lymph system, which in turn cause complications such as cellulitis and sepsis. Constant and pervasive stasis ulcers in our feet, ankles and legs as perforater and other veins fail to support healthy maintenance of the skin. Knees that lock and then freeze due to corrupted connective and supportive tissues. Gastrointestinal walls that weaken and bleed through. Rectal bleeding encouraged by regular issues with gastrointestinal failures due to impacted bowels and weak rectal tissues. And so many more matters, as any vascular supported body systems and organs can be negatively affected by K-T impacted veins, capillaries and lymph vessels.
This is as good a time as any to point out that typically Klippel-Trenaunay Syndrome doesn’t redesign our arteries. So, when doctors see kids with arterial malformations their diagnosis is different. In these cases the term used is Parkes Weber Syndrome. Although to be quite frank, the medical literature and government classification systems are slow on the uptake. “Making the distinction is probably wise given the increased morbidity associated with arteriovenous malformations (Camila K Janniger, MD and Dirk M Elston, MD). Doctors in the know have been making these distinctions for years, yet it seems that bureaucracies and medical school programs have failed to clean up their paperwork. Therefore, you’ll see references to Klippel-Trenaunay-Weber Syndrome.
It is also worth noting that some capillary malformations are in a class unto themselves. These are called Hemangiomas and more properly are known as vascular tumors. Not like a tumor that we associate with cancer. A tumor because of the clinical manifestations these aberrations have. These tumors are capable of growing in size and in some cases can resolve themselves as well; that is, these can shrink. Visually I see Hemangiomas as being more localized or more concentrated. Like I imagine the more common cancer-type tumors these blood tumors look like pockets of out of control body fluids contained in small sacks. These sacks are closer to the skin than the vascular malformations common to K-T. I believe you will also find these conditions described as Vascular Birthmarks from time to time and thus creating some confusion for those new to Klippel-Trenaunay Syndrome, including doctors.
A basic discussion on the physical structures of the human body may be helpful to better understand both the visual cues and the internal complications attributed to Klippel-Trenaunay Syndrome. I’ll have to work on those. I haven’t touched a biology book in a long time.
More coming. This book is based on my work as presented in My Journal here on this blog site. As blog sites go they post today’s work upfront thus making the reading journey cumbersome. You will find years of work in the journal which I’m gradually republishing in book form here. Please feel free to read My Journal while I finish this latest endeavor. Your input and questions are valued greatly.
Thank you, William Lee