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/Ok_Answer_96]

I’m a carrier of fragile x as well and I’m infertile as a result. It’s hearbreaking.

Women get either their X from their mother or father. Men obviously get their X from their mom.

When there’s 1 carrier (1 x affected) in the couple, there’s 25 % chances every pregnancy to transmit the disorder.

Not every carier is affected by the illness, as some have interruptions which prevents the gene to express fully. The lower your mutation number and the higher the interruption, the lesser you should be affected and the lesser chance your kids get a worst version of your affected X if they do indeed get that X.

Women can be fully mutated but function well because their other X compensates. Men don’t have this obviously. That’s why fragile X is a sad news for a boy. They may suffer autism, intellectual delays, physical problems, ataxia, etc.

Women mostly get DOR : diminished ovarian reserve early on. Their reproductive functions don’t work properly. Not all of them though.

[u/No-Revolution8032 → u/Ok_Answer_96]

I thank you for your insight and explanation on the disorder. I’m in healthcare and learned about this condition but truly didn’t understand it. I wonder if many of the kids dx’d with autism are actually fragile X carriers and we just don’t know. I hope research can continue so we can learn more. 

[u/Ok_Answer_96 → u/No-Revolution8032]

Im pretty sure it’s a more common explanation than than we think because the way fragile X works is like mold, it multiplies when it’s moved (I’m sorry I do not believe that autistic people or people with fragile X are mold at all, it’s just the way the condition spread in our collective genes). So, if you don’t have 2 or 3 interruptions (majority has 0 or 1), the X you give your children will have way higher premutations if they inherit your bad X gene. Say you have 56, no interruptions, your kid will have 102 permutations, and the next generation will be fully mutated and have the full syndrome. So the more humanity reproduce, the more the gene spreads.

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