[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!