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/Crazy_Leksi]

I am so sorry you have all this going on at once, I can only imagine your level of stress, anxiety, and sadness. I don't know much about the specific diagnosis, but please remember that every single person has differing effects of any diagnosis. I can say I know what it is like to worry about not being around to take after your child who will need to be taken care of for all of their life. I have a 15 year old with down syndrome who is developmentally delayed. She has the impulse control of a toddler, the thought processing skills of about a 2nd to 3rd grader, with the attitude of a typical teenager. I have a medical issue where I don't know when I might just not wake up, so I've started looking into assisted living facilities so I can plan out which ones are acceptable and have a plan mapped out. I will also say that even if people try and tell you that your kid won't be able to do xyz, let them try it out and still try and help them learn. They told me my daughter wouldn't be able to talk at all and would need special technology to communicate her needs. Now she talks and is learning how to string along 3 to 4 word sentences independently. They also told us she wouldn't be able to read or do math, but covid allowed us to personally work with her and now she reads at a 2nd to 3rd grade level (comprehension still at a younger age), and is also doing math at a 2nd to 3rd grade level. Don't let other people's stories or statistics carve your path, carve your own path with your kid and find what works for you both personally. Sending lots of love