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/Healthy-Ad-8937]

As someone who has struggled with certain similar realities concerning fertility, my heart goes out to you endlessly. These are such impossibly difficult circumstances, and you have every right and reason to process it all however you need to, and none of this makes you a bad person and especially not a bad mother.

Separately, I also work in special education, specifically in the behavior field, but in an environment that most know as life skills. I’ve worked with children who have Fragile X, autism, adhd, Down’s syndrome- pretty much every condition in the books, at this point in my career. I want to share just a bit of my perspective here that I hope gives you some peace:

These kids and the adults I’ve seen them become are absolutely amazing. I have witnessed so much pure joy and fulfillment and growth in these kids when they have parents like you who have poured your heart into them so much that it hurts in the very same way you’ve described. There are people out here who devote their lives to making sure you’re not alone in doing what’s right for your children, that will do anything and everything to make sure that your kids are going to be safe, happy, and know how to advocate for themselves. There are going to be hard moments, and plenty of obstacles, but you already know that- the important part is that you won’t have to be alone in that. You are doing everything right with starting to build these routines and acquiring the services that you’ve already started with- I need you to know how proud I am of you for taking those steps and navigating this endlessly complicated situation the best possible way!

Whatever decision you make in the end is going to be the right one, don’t be afraid to build up that network of support for yourself just like you’ve done for your son. A parent group, an online support group, even posting here is a great start that you’ve already taken too! You are a beautiful person who with one post has shown how much love and compassion you lead with, and I am glad the world has you in it. Your dinner looks amazing, and you deserve to treat yourself for making it through the day today. Thank you for your honesty and vulnerability, you are exactly the kind of parent that people in my field love to work with- the one that cares, that can model how to process big feelings, and most importantly, the one that will cheer alongside us at every little victory and blessing that is inevitably heading your way.

[u/SteelMagnolia941 → u/Healthy-Ad-8937]

I adore my special needs students.