Pediatric Ascending Aortic Dilation/Aneurysm with hEDS diagnosis - uncommon and worrisome! #Aneurysm #EhlersDanlosSyndrome
I have been struggling the past few days with something really heavy on my mind and heart.
I could use some friendly advice and love.
I recently was triggered to remember something that I try not to think about a lot because it makes me cry and feel totally helpless.
My son was diagnosed this year with a life-threatening condition called, Ascending Aortic Dilation/Aneurysm that has to be monitored every 6-12 months.
Its 126.96.36.199 cm last we checked and the average adult aorta sits at 188.8.131.52 cm so it's already too big for his little body.
For connective tissue diseases, I know to try and remain calm until it reaches 184.108.40.206 cm.
Waiting 'til 5 -5.5 cm is not an option with fragile connective tissue.
I've been reading medical journals since 5 am due to insomnia to better understand what we are up against...but it breaks my heart.
I learned that the aneurysm can grow faster with connective tissue diseases...
Doc told me eventually he will need the aortic replacement surgery... so I did some digging to learn about the process.
There are only 300 surgeons in America who do this surgery and I don't think we're near any of the reputable ones.
(The photo is a screenshot of a portion of another (grown) man's story published in a wall street journal describing the surgery process.
Full story here: online.wsj.com/public/resources/documents/hb3.htm)
My son is amazing. He's so incredibly intelligent and intuitive.
He's 9 and he can't help but fill the room with joy.
He's thin and translucent. He looks like the #VEDS poster child but tested negative for vEDS, #LDS, and #MFS.
He is my motivation to become a doctor and keep pushing for change in the medical system to support patients with #RareDiseases because we lack support, care, and access to treatments and proper diagnosis.
My son, my mother and I were all diagnosed with #HEDS this year.
My mother has Aortic Sclerosis and Thrombocytosis.
My son has PFO, Murmur, and Ascending Aortic Dilation and a clotting disorder similar to von wildebrands.
I have PFO and POTS, paroxysmal tachycardia, and right axis deviation.
We all have multi-value insufficiency/about 6 generations of heart and joint problems/familial hyperlipidemia.
We are all currently undergoing whole genome sequencing to see what else could be going on since hEDS doesn't usually cause all this with the heart.
It could be inherited familial thoracic aortic aneurysm. #TAA
I just don't know what to think.
I find out really soon and I'm a bit nervous.
I'm prepared for the worst so that I don't get my hopes up for the best.
Educating myself to make sure I can ask the right questions.
But I feel so alone. I cant even find a support group online for this condition, esp pediatric.
The thought of them having to put him as "clinically dead" for 45 min to complete the surgery is alarming.
The fact that I may not be around by the time he needs it due my health issues scares me too.
I need support