Study Published … PIK3CA Genetic Mutation Linked to K-T Syndrome and Lymphatic Malformation (LM)

[William Anton Lee]

Hello my friends,

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 @ 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 Matrix / Protocol

[william anton lee]

ISSVA Diagnostic Matrix v2

Hello KT Companions,

This is the newly adopted diagnostic protocol from the ISSVA. Many of you discussed its implications in advance of largely because, in advance of the ISSVA announcement, many folks were being similarly diagnosed at Boston Children’s Hospital, Cincinnati Children’s Hospital or the Mayo Clinic (Rochester). You were bringing questions here about diagnosis using newer names or re-diagnosis from Klippel-Trenaunay Syndrome to a condition you had not heard of before.

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.

.

Be a Conqueror

[william.anton.lee]

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!