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/EitherMacaroon6535]

That is such a gut punch, motherhood constantly feels like one instance after another where I am not good enough.

It wasn't until I was pregnant with my daughter that I found I had a slew of genetic issues and a physiology that wasn't supportive to a full term healthy child. I remember the doom and gloom messaging I got once a week at my high risk ob. And like you my kid is 5 so it was already the height of COVID. It felt stupid to feel hopeful.

After she was born full term and stronger and healthier then they predicted we had to make the decision that she would be a one and done. Because the chance of another pregnancy being life threatening for me was high, and I cant handle the possibility of leaving the kid I already have without a mother, just for the small chance I get lucky again. So it's been five years of preventing pregnancies I wish I could responsibly have with a five year old who tells anyone and everyone about "her brother" or "her sister" and regularly having to explain to teachers that those kids don't exist, and that I am not pregnant. We have tried to tell her in age appropriate ways that it isn't happening.

And I have the same fears too for when me and her father pass. Our genetic family is small, just like yours. But I feel fairly confident that you are also surrounded by a chosen family who love you and your boys just as fiercely as their blood relatives.

Add on that she is neurodivergent (and it very much came from my side) it can be terrifying to think she will be all alone in the world when her parents are gone.

But blood relatives aren't the only ones who can love and protect us, and just because life is more difficult for our kids doesn't mean they can't have rich fulfilling lives.

If you haven't already, I would strongly suggest opening up to members of your chosen family about your concerns about your two boys as they age.

No matter what decision you make for you and your family is the "right one", because you, your boys, and your family are worth the love and support.

[u/AddendumNovel7674 → u/EitherMacaroon6535]

Thank you for this beautiful answer! Can I ask what you mean with a physiology that doesn't support a full term healthy child? I ask because apparently the shape of my uterus is known to cause early abortions.