So lonely when nobody gets it
I have one of the most crazy rare things that anyone could possibly imagine and nobody gets it. Doctors even have an extremely hard time with it when they know what's going on, they literally understand nothing.
To back up, when my old PCP ordered the genetic testing without clinical data and it came out negative I was like there is no way this many people in my family are dealing with the same thing and there is nothing wrong. The only thing is everyone in my family had pieces of my puzzle which was quite confusing, but I wasn't willing to let that even stop me. At that point in time I had decided there was no way I was going to let what happened to me throughout my while entire life (47 yo) happen to my children, since I've started seeing in them what's happened in me. So I asked for my raw data, did my analysis myself, prior to my children's geneticist appointment, and then shared my findings.
I have an extremely rare germline somatic mosaicism that was brought on by a shattering event in one of my four cells at the second cell division during fibrillar collagen and ECM production. Embryonic fibrillar collagen and ECM production pulls 21 chromosomes into the transcription hub and those 21 genes, as they shattered were fixed with NHEJ fixes, which is super crazy because most of the time when this occurs the cell dies, but for me it didn't.
My children's genetic team has leaned in and that's reassuring since my PCP recently informed me that both medical systems in my area are not currently taking cases for adult EDS, but my children's geneticist said that based on what I found if they find what I found and they told the lab is suspected in my children their cascade testing will include the rest of my children (I have four altogether and only two saw the geneticist) and myself, given they use a different lab than my original genetic testing, I think we're getting somewhere.
But with somatic mosaicism and the amount of vascular events in my life my main doctors are so confused, because everything leans towards micro dissections and not the normal vEDS dissections, but unfortunately micro dissections still cause weakness in the arteries so eventually they could give out and seeing as my mother died at 54 of a vascular event nine years after a major vascular event (subarachnoid hemorrhage) there is no telling what will happen with me, so my main intent right now is just to make sure my children's medical records reflect what they need to so they aren't treated as badly as I was.
But the loneliness in this is so freaking real, nobody understands, not those closest to me, except my children who are now beginning to fight the same battles I have, and I don't know how else to help them but continually tell them we're getting somewhere and it takes so long and in the meantime my 21yo daughter is suffering from hip subluxations so bad that she gets stuck in the same positions for up to three days at a time at times. 😢 Honestly, what else can I do but keep fighting at this point in time. I realize I might not live to see the results but if I can make life easier for them then that's worth it.
All fibrillar collagen and ECM genes are effected including type 1, 3, 5, 4, 11 and possible more as well as the master regulators and the main culprit is a 3'UTR variant on ZNF469, one of the master regulator genes, no we don't have BCS, but we do have many vision issues... However looking into the regulation of the fibrillar collagen network I found out this gene itself if the protein production is interrupted can cause complete wipe out of fibrillar collagen genes and honestly if I hadn't have survived what I did that would have been exactly what happened....I have no idea what caused me to survive it, but I built a whole entire pipeline to analyze raw data for others so that moving forward I can make a difference and fill in an area that is essentially completely missing from the genetic testing. I'll be launching that really soon but right now I'm working on the automation of the initial part of it because I get sick too often and can't always keep up. (Especially with estrogen production being almost stopped, the fibrillar collagen network takes an even harder hit).
This was the best way to explain what I'm going through, but the loneliness is so real because even with the rare part of it I haven't found anyone that has every part like I do, but I can relate to every fibrillar collagen issue, which seems so unbelievable, but it's honestly for real... Whether you believe it or not, I get it, I didn't believe it either at first, I honestly thought it had to be something else, I felt like there was no way this was even possible... So I do get it if you don't believe me, but it does hurt to be here.