I hate having a genetic disorder/syndrome that's almost impossible to explain to most people

So I have a genetic disorder (a syndrome) that's caused by a chromosomal defect. Part of my DNA is missing. In turn, I have a plethora of physical and mental health issues, some of which are treatable, while others aren't.

NOBODY understands what I mean when I try and explain it to them. Which is fair, because this stuff's complicated. I don't expect people to know what I'm talking about with such technical scientific terms.

The closest thing people understand is Down Syndrome being caused by a similar defect (albeit a different chromosome) and they may have heard of CHARGE Syndrome too. But the one I have? None of my doctors know it, and I've had tons of doctors over the years. At most they'll have heard of it but don't know anything about it.

It has about 3 different names. When I'm describing it I have to rattle off all of them. The Wikipedia article is on the outdated name. I was diagnosed as another outdated name. ALL the charities and organisations call it "<Chromosome> Deletion Syndrome" (since there's also a duplication syndrome) but online it's almost always under one of the other two. My dad was filling out a travel insurance form for me recently and they had it under the same outdated name as Wikipedia.

What gets me is that it's not even that rare, just massively underdiagnosed. This is because the main symptom that gets linked to it in childhood is a specific congenital heart condition, which wasn't survivable until the last few decades. But you can have the syndrome without the heart condition, in which case it usually gets picked up on in adulthood as a specific mineral deficiency (it's the leading cause of the deficiency).

I have never met someone else with this syndrome. I was the first person in the country I live in to be diagnosed with it when the genetic testing became available.

The other thing is that there are roughly 200 potential symptoms related to this syndrome and if you have it, you can have any combination of those symptoms with various levels of severity. For example, I have the main heart condition, BUT I also have a very complex version of a very rare condition alongside it (I was used in medical exams and failed several future doctors because they couldn't diagnose my condition, as it was talked about in medical journals and books but they never expected they'd actually come across it), which is never even mentioned in general lists about the main symptoms.

Speaking of the main symptoms, I'm also lacking several of those, which is a good thing, but it shows how variable it is.

I can explain the health issues I have individually. My autism (although people don't understand that one either tbf), my depression, my heart condition (people at least understand congenital heart condition = bad), my scoliosis, my severe GERD, etc etc etc. But the actual syndrome itself takes so long to explain and is so complicated that people just... kinda tune out.

It's really frustrating because it's like I can't talk about what makes me me. I could try to dumb it down but just saying "Oh I'm missing a piece of my DNA and I have these health issues as a result of it" is also something that people don't always understand because they don't know how DNA works. Or even what chromosomes are.

AND I can't name the specific syndrome online because that'd dox me. Even though it's not uncommon, it'd still be easy enough for someone to find me if they knew I had it. Which is why I haven't named it in this post, although I'm sure somebody will know it based on what I've said here. Oh well.

I know there's the term "invisible disability" and while I definitely feel like I have that, I think this type of chromosomal defect syndrome-y... thing is a bit more than what "invisible disability" covers. Because it's very much a disability -- but it's a whole ton of them (like, 30+, although some are very mild, like "small ears") all caused by a single thing.

It's not like I want to hide that I have this syndrome. I'll openly talk about it. I have a badge on my purse that says "Ask me about <Syndrome>". But that doesn't stop people from just... not understanding any of it.

Just needed to whinge about having an unexplainable condition. I'm at peace with the fact that I have it, but it gets annoying when trying to explain it sometimes.