The Uncomfortable Conversation

Please bear with me for a moment, this post is about the very difficult subject of Chronic Depression and Suicide. It’s like we don’t wish to read about these subjects, much less think we’re going to be impacted by it. I’m biased by my general academic background, by my specific college degree work, by my own personal experiences with K-T Syndrome, and by my life experiences with people directly engaged in their own mental healthcare. I’ll add an additional personal note that my mother raised 4 children while fighting through mental health demons. I see a huge need and benefit to bringing these subjects into the bright light if day.

One of my passions in support of a membership is the underpinnings and realities of living with a chronic illness or a congenital syndrome that seems to chase after us is to make psychological counseling a regular discipline on the multidisciplinary team’s I am so fond of recommending when it comes to our medical care and treatment. Another personal note, as pertains to me, I do struggle with keeping myself pointed in a constructive direction although to date I’ve not felt compelled to seek counseling. I came very close to doing so in these last months. Within reach of me, my mother benefited from it when she went through it. And, I have personally witnessed family and friends benefiting from counseling. Sadly, mental healthcare isn’t even on the radar for the overwhelming majority of healthcare insurance companies; arguably even healthcare providers themselves.

Here we go!

My son just lost a dear friend to suicide. To a person his friends said they knew he struggled and they gave him as much personal support as they could. Yet, they wished they could have done more.

Today, a dear friend of mine talked about desperation and a life wherein a lack of, not just genuine understanding, but compassionate support creates a very fragile environment wherein people literally go into dark places wondering if they will ever come out. That person’s post got taken down basically with the explanation that a private, members only Facebook support group for people with, or people helping with difficult medical problems isn’t the proper place to in effect cry, to reach out for compassionate personal support (my very gut wrenching take on what I read and internalized).

I simply don’t agree.

No, absolutely not! A person considering suicide or even remotely sounding like they are deeply in despair gets through the night and dark places so often by having personal, emotional support until they can hear or self discover the need for professional support. It’s simply not good enough to say hang up and call a Psychologist.

I cried. I then went back to my training and my memory of how we were instructed to respond as both lay persons and professionals when a contact of ours crosses that uncomfortable threshold I call unrelenting despair. The American Psychological Association many decades ago helped me with information and recommendations on how even the lay person has a legit role in the care and treatment of those in deep despair. Below is a current link that I found and read; once again I’m reassured from the APA that we can do something. It’s not a guarantee of success, nor is it a blanket approval for amateurs to practice medicine without a license. It is however a plea to never hang up the phone or express a mechanical reluctance to simply listen, encourage, and “guide” those in need into the capable hands if a waiting professional even if that professional is a phone call away at organizations that likewise are passionate about Suicide Prevention.

From the APA article:

“Five tips from CDC for what you can do if you’re concerned about a friend or loved one:

◦ Ask someone you are worried about if they’re thinking about suicide. (While people may be hesitant to ask, research shows this is helpful.)

◦ Keep them safe. Reduce access to lethal means for those at risk.

◦ Be there with them. Listen to what they need.

◦ Help them connect with ongoing support.

◦ Stay connected. Follow up to see how they’re doing

If you need help for yourself or someone else, contact the Suicide Prevention Lifeline call 1-800-273-8255 or chat online at www.suicidepreventionlifeline.org.”

————

X https://www.psychiatry.org/patients-families/suicide-prevention

Cause of Sturge-Weber Syndrome

[William Anton Lee]


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


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.

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