Devastated by son's diagnosis

[u/Little_Emu2309]

My 5 year old son has always been delayed. He's hit all of his milestones significantly later than most kids his age. He's in physical therapy, speech therapy, and occupational therapy. He was diagnosed with autism when he was 3. I was willing to accept this diagnosis. My husband was not. He said it just didn't seem to fit our son. So we started seeing a neurologist who, upon first meeting our son, immediately seemed to question the autism diagnosis. So, we decided to do some genetic testing.

When we found out we were pregnant with our son, we opted not to do any genetic testing or carrier screening when my OB clinic offered. We didn't have a lot of money, and we had no reason to believe anything ran on either side of our families. About a month ago, we got our son's genetic testing results back. He has Fragile X Syndrome. We were shocked. And the more we looked into Fragile X, the more devastated we became. It's an X chromosome linked disorder, meaning it (usually) comes from the mom's side. It's the most common genetically linked form of intellectual disability. Their body doesn't create the proteins needed to be able to learn. After reading stories from other families with Fragile X children and speaking to multiple genetic counselors, it's very likely that our son will never be able to get a job, be independent, have a family of his own.

Because I am a carrier of Fragile X ( I have one normal X and one affected X), each pregnancy has about a 50% chance of receiving my affected X chromosome. Males are much more likely to be severely affected. And just based on developmental and physical similarities, we believe his 1.5 year old brother also has Fragile X. We are getting him tested next week to be sure.

Then we started reading about how females who are Fragile X carriers have a chance of going through menopause early - like in their 30s (I'm early 30s). There's also a chance of developing Parkinsons-like symptoms (tremors, ataxia, memory loss) in my 50s.

And because we weren't dealing with enough already, we found all of this out when I was 16 weeks pregnant...with another boy. We have been scrambling to get in somewhere to do an amniocentesis to test if this baby has Fragile X. We are considering termination if he does have it. I feel so broken and so guilty. I have cried every day and I change my mind every hour. This baby was planned and wanted. But my husband and I don't come from big families. When we go, there will be no one left to look out for our children who will likely not understand what's going on. To subject a third child to a future where we can't guarantee they'll be looked after when my husband and I are gone feels cruel and irresponsible.

My mental health has been absolutely horrible. I feel like I'm already in a state of grieving. I no longer want to see my baby on ultrasounds. I don't want to feel him kicking. It just reminds me that he's there and that I may have to say goodbye to him. I guess I'm just looking for some words of comfort from internet strangers as we face this impossible decision.

Dinner is cajun sausage and beans made in the crockpot.

[u/biscuitboi967]

I have a friend who terminated a pregnancy due to Fragile X. It was a very wanted pregnancy.

But she already had one daughter - who is likely a bit on the spectrum, but very low support needs and was never diagnosed. Just what you’d call “quirky”. Very high intellect just a little late on some social and behavioral milestones.

For better or worse, she also had a coworker with a son with Fragile X and he was on the more severe scale, already 6 feet tall at 14. She knew that she couldn’t predict the “version” her son would have, and she knew she couldn’t be a proper mother to her existing daughter if she had another, much higher needs child.

Coincidently, my friend also developed MS around the time her oldest was 10. She’s been able to keep it fairly well controlled for the last 15 years, but it meant cutting back her hours at work, maintaining a strict fitness and healthy eating routine, getting sleep, and generally more self care than she would have with a high needs child.

It wasn’t a decision she wanted. It was a VERY EXPENSIVE decision, not covered by insurance. Even in our very liberal state, she had to travel to have the procedure. But it was what was best for her already born children, and what ended up being best for the whole family a few years later when her own health needs became evident.

[u/biscuitboi967 → u/[deleted]]

Surely you know what I mean.

There are kids (often girls) who need limited intervention to adapt in school and, eventually, work. And there are kids who need intensive OT just to toilet and feed themselves.

I managed well enough to avoid diagnosis until perimenopause. Got a bunch of misdiagnosed because I knew something was wrong, but I managed to make it through.

My sister works with kids who are nonverbal and self harm and elope. Their goals are different than other kids on the spectrum.

[u/Ok-Dragonfruit-6521 → u/biscuitboi967]

of course i know what you mean, but it doesn't mean your way of expressing it isn't outdated and as a result offensive. just like your assertion that girls are the ones more likely to have lower support needs that don't completely affect their life. there is currently no reliable data on boys having more severe presentation of autism then girls. what there is data on is that girls are massively under diagnosed, due to their differences in presentation. the "limited intervention" you're talking about is as a result of girls masking their autism to the point people don't realise their struggling, but do you know what years of masking does? it destroys peoples mental health, and there is tons of reliable data that tells us women and girls with autism are at much higher risk then men/boys of suicide and self harm(as well as facing sexual and physical violence) as a result! language and the way we talk about things(especially disability) could not be more important. it's the outed language, like what your using now which contributed to people not even thinking women/girls could be autistic not that long ago, and continues further misunderstanding and factual incorrectness about autism today. no one is saying high support needs non verbal autistic kids are the same as people with low support needs. like i promise you no one who criticises the use of " a little bit autistic" thinks that, or criticises that terminology for that reason. what we are saying is that outdated and factually incorrect terminology harms the entire autistic community, and furthers misunderstanding of it.

[u/biscuitboi967 → u/Ok-Dragonfruit-6521]

I did not say “a little bit autistic”.

I say “a little bit on the spectrum”. Of which I also am. I am a little bit on one end of The Spectrum. That’s how I think of myself. Not so different to where I place myself on The Kinsey Scale.

And I am well aware of the toll of masking on women. There was a reason I felt so wrong my whole life and kept seeking help and ending up misdiagnosed. Hint — it was being a girl/woman with high IQ and mirror the people around me. Made it 43 years

I apologize that my terminology offends you. But you also misquote me

[u/Ok-Dragonfruit-6521 → u/biscuitboi967]

you're being semantic, a little bit on the spectrum and a little bit autistic are literally the same thing!!! because "the spectrum" is autism! what spectrum else is the spectrum for your quote to
mean something vastly different, a mythical place far far away??
there is also no one end of the spectrum, because the modern understanding of autism no longer views the spectrum as a linear line. it's far more complex then that, and the modern understanding views it as more of a pie chart type wheel. this is why the terminology like "high/low functioning" has been phased out, and the terms low/medium/high support needs have come in in its place.
being autistic yourself doesn't mean you have a perfect understanding of the disability! in fact many later diagnosed people have a very outed understanding, which contributes to the fact it takes people years to realise they themselves are autistic. this is of course completely understandable, however it doesn't mean you shouldn't make an effort to unlearn the misconceptions you have, and learn the more modern understanding. it not only will obviously avoid situations of offending people with outdated language, but will also strength your own understanding of yourself and your autism. all autistic people(and everyone tbh) have a duty to care for their community, and not furthering the misunderstanding of the disability is part of that. it harms you and everyone else!