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/sealilymarron2]

Hello from another Fragile X Syndrome Mom. ❤️ Believe me, I feel your pain. We have two sons and the second one was just... different when he was born. He started screaming to communicate at 4 months old instead of babbling and that continued through around 4 years old. He had cross-eye that we had surgery to correct at 1.5yo and patched for years. He had a 3-second attention span and wouldn't talk much and could not seem to learn colors no matter how much my husband tried to teach him (it was his turn for being the stay-at-home parent at the time). We kept telling his pediatrician that something was wrong and kept getting the infuriating answer that every child develops differently and to just give him time.

Well, at 31 I mentioned to my doctor that I had stopped having periods even off the Mirena IUD I had removed and she gave me such a funny look and said "Have you been tested for Fragile X Syndrome?" We did the test and sure enough, I'm a carrier. We looked up the symptoms of this THING that I have and my god it explained EVERYTHING about what was different about our son. The language delays, the cross-eye, the learning delays, the overstuffing the mouth until he threw up - that's a specific symptom!

He was 4 when we got the genetic test done for him and started trying to figure out what to do next to help him. The interventions are supposed to be done before 5 so we signed up for what we could but then COVID hit and the world closed and all the special services only work in person and that was no longer an option. His kindergarten year was "online", which does NOT work. It's bad enough for a normal kinder but impossible for a special one. He learned to close the Chromebook and go play when his not-tech-savy helper couldn't get the classroom video back on. He's oddly very smart when it comes to getting his way and also for computers.

Having missed the first year of school, the second even in person was super rough. We ended up transferring him to a different school after he was spending all day in the pull-out room meant for 1 hour sessions. The new school has been great. They have "Skills" classrooms for K-2 and 3-6. He's 11 and in 6th grade and he's developmentally about ready for 1st grade. He can read a couple of words. He has an IEP and we do keep having to move his goals forward so he is making progress but he's nowhere near grade level so he gets included in his Gen Ed class for some social stuff and then goes to study with the various aides and sped teachers most of the rest of the time.

It's been really rough as parents. We started saving for college in 529 plans when our kids were born and here we have the one who will probably never be college material. My husband went through years of depression after learning that no matter what we did we couldn't make him "traditionally successful" with the usual job and house and all that. There was some statistic that he read about 40% of adult Fragile X folks live with their parents, 30% live in group homes and only 30% actually live independently that kind of broke him. I keep clinging to the idea that he can still be useful/helpful somehow. Maybe he can be a baker (he's a good helper in the kitchen), or a yard helper (he's very strong), or something but I don't see him having a normal 9-5 job. I wish there were such a thing as a real Hobbit lifestyle of puttering around the country and growing vegetables and eating elevensies and afternoon tea because I feel like he could do that but there sure doesn't seem to be much of a place in normal society for a kid like him.

I do take some comfort in knowing he's turning out to be a good person. Animals like him, even if he's a little scared of them. He's a bit of a pest to his big brother, who he adores. He's a good friend at school and will take care of the other sped kids. He's the most verbal of the sped class, which honestly points out that things could be a lot worse. He's not violent, he's pretty physically capable, he does progress and isn't completely stuck - he's just on half-speed.

Anyway, I feel your pain. Two and possibly three kids with Fragile X is a challenge. My cousin has 2 of 3 girls with it and they got the ear-tubes/deafness variation, I hear. Cousin and her husband divorced because he thought they "could just do better in school if they tried a bit harder", and I can't even handle how that's a possible reaction. At least it sounds like you and your husband are both trying to find out how to help your kids.

Hang in there. Life is lived one day at time and what doesn't kill you makes you stronger. Just think how strong you'll be.

[u/one_sock_wonder_ → u/sealilymarron2]

Just as an early childhood special education teacher and then working in a program for students with multiple/severe disabilities, I want to offer something just from my experiences. Yes, early intervention makes a big difference for children who have virtually any kind of disability. But in the messaging about it's importance there grew this set of beliefs that if you do not have significant intervention by age 5 all is lost. I have seen so many heartbroken parents as their child turns 5 who are convinced that no further noticeable change is possible. So many hard transition to kindergarten IEPs.

Thankfully there is not an on/off switch for support and intervention at age 5 where at 4 years 364 days it's effective but at 5 years everything remains frozen at that moment in time. Human development has a few critical periods that can be firm, but this does not involve those (for those think more like a child never exposed to language who after a certain point will not be able to master speech). Children with disabilities benefit from, learn from, and gain meaningful skills from therapies and education well past age 5. Meaningful and signifucant may look different from child to child but disabled children are not perpetual children. They have the years of life experiences they gain and disability does not erase that.

TL;Dr: children continue to benefit from support and intervention past age 5. Now is not forever and forever is decided as we go.