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.

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[u/dumbandjuschillen]

I am so sorry you are going through this.

I actually work on Fragile X clinical trials. I work with FXS patients regularly and I absolutely love my job. Most of my patients are very sweet and happy. It’s not something you have to put on your plate right now, but in the future taking part in FXS clinical trials can be something you look into. In the meantime, please take solace in the fact that there are many scientists who work on FXS trials every single day. We are learning so much and there are consistently clinical trials that are investigating the ability of new medications to lessen some of the more challenging FXS symptoms. The work will keep going and it’s very possible that real progress can be made.

[u/Sansability2 → u/dumbandjuschillen]

I love this comment. Thank you for your work.

[u/casser0le98 → u/dumbandjuschillen]

My two cousins have Fragile X. I believe they've taken part in clinical trials.

They are really such funny, creative, loving people. As a past researcher myself, thank you for your dedication!🩵

[u/Rude_Kaleidoscope641 → u/dumbandjuschillen]

You are a true hero!

[u/Safe-Illustrator-526 → u/dumbandjuschillen]

Thank you for what you do! My brother has Fragile X and has been involved with some research. I truly hope there can be some helpful treatments someday.

[u/No-Morning-4524 → u/dumbandjuschillen]

Hey! I also work in rare neurodevelopmental clinical trials and was going to come here and say the same thing. 

Also, OP, if you haven’t connected with a Fragile X Patient Advocacy group, please do. You have a whole community behind you to support you through this diagnosis. Sending you so many hugs. 

[u/GypsyDuncan]

Oh honey. That is devastating. I am so sorry.

[u/iendandubegin → u/GypsyDuncan]

I'm appreciating hearing the important stories coming out in this thread. My thoughts are with OP and everyone else replying in an awesome and loving manner in here right now.

[u/Quizleteer → u/iendandubegin]

The internet can be a horrific place, but it's posts like these that receive a tremendous amount of empathy and support that make me glad we have it.

[u/TheBlackPetunia]

Hi there! I’m the sibling of someone with Fragile X. I just want you to know that whatever you decide is YOUR decision. My brother has a good life! We take good care of him and he’s a good guy. This life is not the same as that of a “conventional” neurotypical family, and comes with many hardships one would not expect. I just want you to know that whatever you decide is YOUR decision, no one else’s, and only you can decide what feels right for you and your family. I send you so much love 🖤

[u/Little_Emu2309 → u/TheBlackPetunia]

Thank you for your reply! I'd really love to ask you some questions about your experiences if you're open to it. It's hard because nothing feels, "right." But our boys are amazing and SO funny. Adjusting to the idea that neither of them will have the futures we imagined for them has been hard, but we are going to do our best to make sure they have every resource and opportunity available to them, while we're here and when we're gone.

[u/Sea_McMeme → u/Little_Emu2309]

From your post and comments, you are obviously such a thoughtful, compassionate person. I can absolutely understand how no solution to this unbelievably difficult situation is going to feel “right” to you. However, from an outside perspective, because you are thoughtful and compassionate, whichever decision you make will be right for your family, and don’t let anyone convince you otherwise.

[u/FycklePyckle → u/Little_Emu2309]

First of all - you are a beautiful human. My heart hurts for how much you are dealing with and how brave of a momma you are.

I just wanted to add that - diagnosis or no diagnosis - our kids rarely embrace the futures we imagine for them.

[u/TheBlackPetunia → u/Little_Emu2309]

I don’t mind answering any questions you might have! Hop into my DMs!

[u/Time-Front-2292 → u/TheBlackPetunia]

So very well said. OP, your decisions are the right decisions. Every time.

[u/montycrates → u/[deleted]]

You seem to be struggling with reading comprehension. 

[u/TeacherLady3]

I'm so sorry you're going through this. I've taught 2 children with fragile x over my career. They were able to learn but it was at a slower pace. These were twins. They graduated high school with a special diploma and are working at a bakery that employs adults with disabilities. They are happy and thriving. Eventually their parents will move them into a home with supervision and transportation.

[u/VehicleInevitable833 → u/TeacherLady3]

I want to piggyback on your comment that moving an adult child into a group setting or other type of care home is an excellent and important thing to do (provided that it’s good care, of course).

Some people will call it selfish, but it’s so important for learning. Parents won’t always be there- if it’s not a life limiting condition, it’s most likely that children will outlive their parents. Those that will always need support in their daily living shouldn’t be thrust into it suddenly when their parent(s) die, or become disabled.

Make this a normal part of life. It’s ok for disabled adults to have caregivers other than their parents.

[u/Mrs_Biscuit → u/VehicleInevitable833]

I can't upvoter this enough. I work with mentally disabled adults and there are quite a significant number of 50+ year olds still living with their very elderly parents. The change and upset when those parents die is so distressing for everyone. Supported living/group homes is a much more healthy and beneficial option than staying at home as adults.

[u/SBowen91 → u/Mrs_Biscuit]

This… we had one guy who we got when he was in his 80s because his brother died and it was absolutely awful to watch. Not only did he shut down for obvious reasons but he wasnt socialized enough so the behaviors we dealt with had the police called several times. It was traumatic for him and staff. If anyone is reeeeally against the ISL/group setting… pleeease REALLY help them with socialization and learning to trust others. Even if it’s a day program for 4 hrs 7 days a week… it will actually benefit them whenever their family caregiver passes away because we will never live forever.

[u/SBowen91 → u/VehicleInevitable833]

I’m gonna piggyback on this comment now…

I know there are horror stories for group homes and ISLs but don’t feel like you are failing them by putting them in one. ISLs are honestly really great for those with disabilities. They teach a lot of independence and builds/works on socialization! I used to be a lead staff of several and if you have the right staff they become a second family.

I can’t speak for every ISL out there but with the several companies I’ve been with most leads are very very picky about who they let in, they won’t hire college students who will leave in a year, etc. so staff doesn’t disrupt the clients home. Families can also work with the higher ups and make choices for the individuals home setting so if you don’t feel safe with a specific roommate they will work on moving everyone with the best “family” in the homes. Outings with family or a vacation is all still possible even when an individual is in the ISL. We actually pushed for everyone to come over for family dinner, had holiday parties (even dumb ones like donut day), had fishing trips with staff, clients, and their dad/grandpa. Several of my guys went to concerts and monster truck shows with me with permission obviously but we still did normal kid/adult things.

[u/ameliabedeliaishigh → u/VehicleInevitable833]

My daughter works at one of these group homes. She loves it so much.

[u/SBowen91 → u/ameliabedeliaishigh]

Those jobs are my absolute favorite.

[u/SteelMagnolia941 → u/TeacherLady3]

My fragile X student cleans at our hospital two days a week. He’s incredibly functional and could hold a job there.

[u/SBowen91 → u/SteelMagnolia941]

I love that so much for them! I can only imagine how important they feel working in the hospital. 🥹

[u/SteelMagnolia941 → u/SBowen91]

I call him doctor (his last name) and he calls me dr (last name). We always talk about how we are saving lives cleaning the germs up. He is so proud in his scrubs.

[u/SBowen91 → u/SteelMagnolia941]

Omg he needs a badge buddy with his last name😭😭😭 this makes my heart sing so much. Thank you for being a good human. Seriously thank you.

When I was lead at my first ISL one of my boys had a lot of behavioral issues and I made him my “assistant lead” so he had extra outings while I ran errands. It also helped being like “okay ____ we need to decide if this reaction is worth not helping me pick out what ice cream I buy at the store today or not…” I was P (president) and he was VP of ISL 8. I can’t imagine how excited/important feeling scrubs would have made him!

[u/3merZ]

Hi OP. I have a sibling with a genetic disorder who will never live independently or have a job. She’s a beloved part of our family and has had her fair share of ups and downs. Whatever you decide to do will be the right decision for your family, but I just want to share that I just had my first child and went into the pregnancy knowing that if a significant disability like my sister’s (which is not heritable) was found in utero, I would likely terminate the pregnancy. I knew it would be heart wrenching and would bring me sadness for the rest of my life, but I also knew it would be the right thing for myself, my current family, and my future children on earth. I know this is controversial, but I just want you to know that you have my permission as someone deeply embedded in this world to do what you feel is most right. You are an incredible mother to all of your children, and I think it is heartbreaking and admirable to be weighing this decision.

[u/Budget_Ordinary1043 → u/3merZ]

I don’t have a sibling with a disorder but I work with disabled adults and I also had this conversation with my partner. We did get the testing done even though there is no knowledge anything runs on either side but we were ready to not go forward if things were not okay.

Working with the disabled is hard but I also love it. And the families are made up of some of the most amazing people I have ever met. I just can’t subject a person to so many obstacles if I know about it before hand.

[u/fedthegiraffe → u/3merZ]

Similarly, I am a mother of a child with a genetic disorder. It was a surprise to us. All prenatal testing was done with the intention of terminating if there were going to be significant health challenges. It was all normal. I love my child fiercely, but if I knew then what I know now, he wouldn't be here. His life is objectively hard and full of discomfort. I worry every day about what will happen to him when I am gone. It is a great feat of love to take on the care of a child with such significant challenges, but it is equally loving to not force that on them. There is no wrong answer, OP, and do not let anyone convince you otherwise. I wish your family all the best.

[u/Last-Pickle1713 → u/fedthegiraffe]

"it is equally loving to not force that on them"

This is so important and often overlooked. Sending strength and well wishes to you and OP

[u/NibblesMcGiblet → u/fedthegiraffe]

it is equally loving to not force that on them

This is so important for OP to really take in. Thank you for saying this.

[u/SweetandSourCaroline → u/3merZ]

Absolutely.

[u/StillStaringAtTheSky]

OP - I am so sorry - this has got to feel overwhelming. I just took a quick dive into current clinical studies - and I came across the BLOOM study. Here's a LINK to the clinical study- which may or may not be useful for you.

I know you're about to also dive head first into the archives to learn about Fragile X, and I would like to offer to put anything you find into plain language for you- or even jump on a Zoom to explain stuff. I have not worked on Fragile X specifically, but my PhD covers molecular, cellular, developmental and neural biology, and I've spent time in clinical labs.

You're not in this alone- we are here for you.

[u/dumbandjuschillen → u/StillStaringAtTheSky]

I work on this clinical trial!

[u/StillStaringAtTheSky → u/dumbandjuschillen]

That's awesome! Not sure what your role is- do you know if this therapy has been extended to others under compassionate use?

[u/yogace → u/StillStaringAtTheSky]

I took a quick glance and it looks like that trial is for boys age 13+, so probably not applicable for OP. But I know there’s research going on out there, and things may change in terms of available treatment. I also found a whole website with fragile X resources! https://fragilex.org/resources/clinics/

OP, I’m so sorry you’re in such a tough situation. We recently got similar information about our kiddo and it’s been a whole lot of conflicting emotions. You’re doing a great job advocating for your kids and their needs already, they’re lucky to have you.

[u/StillStaringAtTheSky → u/yogace]

You're right about the ages- but there are a few avenues under 'compassionate use' where physicians can ask for trial drugs to be given to kids/others with special approval. They may also open up a pediatric cohort. It is 100% worth reaching out to the nearest location and asking the PIs from that location. This is one of the few studies with a large number of locations internationally. The PIs may also have other recommendations.

[u/dumbandjuschillen → u/yogace]

The 13-16 yo cohort is closed so it’s just for 16-45 yo right now, but I think it’s a great example of a trial for OP to see that is happening in this community!

[u/invisi_goth → u/StillStaringAtTheSky]

this is so incredibly kind and it has nothing to do with me but i just wanted to say thank you 💜

[u/lorrithegreat]

My son has Fragile X.

He's eighteen now. But, I remember being exactly where you are.

I am a carrier too, and made the difficult decision not to have other children. Before the FX diagnosis, I had a miscarriage, which was devastating at the time. But, now I feel guilty for how relieved I am that it turned out that way.

I have the same fears as you, what will happen to him when we're gone? Will he be okay? Did we do enough? I live my life so that on my deathbed, I can let go in peace. Knowing I did what I could, and he will be loved.

Because I feel like his diagnosis is my fault.

You might feel like that too, sometimes. It's not true. I have to remind myself, and therapy has really helped me cope with those thoughts. We didn't choose to be carriers, we didn't know.

Anyway, I will say that he's a very happy person with a fulfilling life. He won't live on his own, have a family, do a lot of the typical things we tend to judge happiness by.

And I have breakdowns now and then just from the... expanse of it all. Everything I've had to do, everything I will still need to. Every day I'm here, giving and giving.

But, those days are not my baseline. I'm incredibly proud of how far we've come as a family. The support system we've built, the things he has been able to achieve, the future we've planned for him. How kind I've managed to become to myself, because that's the only way to stay sane at times.

All this to say, as someone who is at the midway point of this...

How you feel is valid. It IS a grieving process. Be kind to yourself, let yourself have the shtity thoughts. Wallow in it a bit if you need to. I sure did. I still do sometimes!

But, please know that a good life is still very much possible. It's a different life, but you will be rewarded in many ways you may not have ever expected.

Nothing you decide right now is wrong. You are doing the best you can with love in your heart.

And that's what all the good moms do.

[u/legocitiez → u/lorrithegreat]

I have disabled kids too, not fragile x but other things, and this this this comment is it.

Please, op. Give yourself the space to feel all the feelings, to make whatever choice you need to, and to allow yourself to let go of the guilt. It is no one's fault that we have disabled kids. Even if they identify chromosomes and carriers. We didn't know. We did nothing to cause it.

[u/Budget_Conference_54 → u/lorrithegreat]

I have a child who does not have fragile x but has autism and ID. The initial diagnosis is such a difficult time. The uncertainty alongside the parade of horribles of prognosis was completely unmooring.
I want to echo that, while there are still times when I feel despondent, those are not my baseline anymore. My son is very delayed and he will never live independently. But he keeps learning and developing. He is a happy kid, attends our public school with wonderful, caring special ed teachers and staff and brings a lot of joy to our family. The future still worries me, but the present is pretty good.
It has helped me to find a small community of other parents whose kids have similar challenges.

[u/futureellewoods11]

You are going through the unimaginable. My heart goes out to you, your husband, your two boys here on earth, and the boy you're carrying. Know that whatever decision you make, you're making the best decision you can with the information you're given. So many hugs to you. It's obvious from your post the amount of love in your family, I can feel it all the way through the screen. Take care of yourself and one another <3

[u/Little_Emu2309 → u/futureellewoods11]

Thank you so much for your kind words. It's so hard to know what to do when no choice feels "right" and every choice feels "wrong." But we love our boys so much and are so proud of everything they have accomplished.

[u/biscuitboi967]

I have a friend who terminated a pregnancy due to Fragile X. It was a very wanted pregnancy.

But she already had one daughter - who is likely a bit on the spectrum, but very low support needs and was never diagnosed. Just what you’d call “quirky”. Very high intellect just a little late on some social and behavioral milestones.

For better or worse, she also had a coworker with a son with Fragile X and he was on the more severe scale, already 6 feet tall at 14. She knew that she couldn’t predict the “version” her son would have, and she knew she couldn’t be a proper mother to her existing daughter if she had another, much higher needs child.

Coincidently, my friend also developed MS around the time her oldest was 10. She’s been able to keep it fairly well controlled for the last 15 years, but it meant cutting back her hours at work, maintaining a strict fitness and healthy eating routine, getting sleep, and generally more self care than she would have with a high needs child.

It wasn’t a decision she wanted. It was a VERY EXPENSIVE decision, not covered by insurance. Even in our very liberal state, she had to travel to have the procedure. But it was what was best for her already born children, and what ended up being best for the whole family a few years later when her own health needs became evident.

[u/SewNewKnitsToo → u/biscuitboi967]

There is no shame on having an abortion if you know that the fetus has health issues that would be very difficult for you to support. OP, you did nothing wrong and your ability to give the best to the two needy children you already have is part of the calculation when you weight the pros and cons of abortion. I hope you are able to receive the genetic tests of your current pregnancy and it’s good news, but if it’s not I support whatever decision you make. Your life, and your husband’s life are also important. I hope the best for you and your family and my heart goes out to you!

[u/freshlysqueezed93 → u/SewNewKnitsToo]

It's so sad how looked down we are sometimes for aborting a child for their own future health and wellbeing.

I refuse to knowingly bring a child into this world who I know will suffer a significantly reduced quality of life.

[u/Bree4444 → u/freshlysqueezed93]

Yea I think it can be a difficult conversation, especially amongst disabled folks who have to fight tooth and nail for their own right to exist, and seeing people almost talk down upon people « like them », and having to avoid a push against disabled folks as a whole.
I know in the past I’ve seen it pointed out that anyone can become disabled at any time, which is absolutely true and more people in power need to care about others, and for people with let’s say, Down’s syndrome, to see others talk about terminating a hypothetical fetus with downs, it can feel like an attack on their being, and a sense of “would my parents have wanted me had they known”.
Obviously there are so many things that come into play in a decision to have a family, and whether you can handle any potential future ❤️

[u/binders4588 → u/SewNewKnitsToo]

Agreed. But I will add that there’s no shame in having an abortion for ANY reason, IMO.

[u/FriskyDingus1122]

Oh sweetheart. Fellow female fragile x carrier here. You have all my heart.

I hope it brings you some comfort to know that the chances of developing Fragile X ataxia and early menopause are quite low.

[u/1kggarlicbread]

This post reeks of guilt and all I can say is that in a lot of countries, they don’t even offer genetic testing unless you have reason to believe there may be something wrong. You were completely normal in your decision to not have testing done, especially considering finances. I am so sorry for what you’re going through, but you both sound like loving, incredible parents and your kids are lucky to have you.

[u/Sufficient-Fun-1619 → u/1kggarlicbread]

I SECOND THIS!!!!!!!

[u/Lets-B-Lets-B-Jolly → u/1kggarlicbread]

This. Plus there are so many things that don't show up on genetic testing during pregnancy as well. My oldest son was fine on genetic testing but he has a genetic heart condition that wasn't even discovered yet when he was born. His younger brother has it AND autism. His testing was clear as well.

My 7 year old daughter had extensive testing in utero since I was under the care of a fetal maternal specialist because she was at risk for methotrexate syndrome (which she didn't have luckily). Now she has more severe autism than her brother, and likely the same genetic condition but genetic tests for it were inconclusive @_@

I hate knowing her oldest brother will likely be dealing with supervising their care when we are gone, so we are getting them as much therapies as we can and looking into group homes when they are older. Just in case.

I know the genetic condition and autism both come from my family and I feel guilty for it. I don't know what I would have done if we had known about either before any of them were born. OP needs to do what is right for her family and life...

[u/Little_Emu2309 → u/1kggarlicbread]

An overwhelming amount of guilt.

Guilty that we cheaped out on genetic testing when we found out we were pregnant with our first. We switched health organizations between first and second kid due to insurance. My midwife for second and current baby saw a note in my chart from my previous provider that stated I had a normal carrier screen, so she never even thought to suggest it, assuming it was correct.

Guilty that this came from my side of the family. My husband is a wonderful and intelligent man and would never say it, but I can't help but think he's devastated that I may not be able to give him neurotypical children. He's been writing in journals every month for each of our boys sincd they were born so they could read them when they grew up. Now, if they are able to read when they're older, they may not even be able to comprehend what the journals say.

And guilt for the future decisions we may have to make. I'm from the rural south. This topic is not openly talked about around here. It also makes receiving care much more difficult.

[u/SystematicDragons → u/Little_Emu2309]

I don't know if this helps to know, but we did the generic carrier screening (I already knew I was a carrier for at least one thing), I just checked my results from 3 years ago and it does not screen for fragile x. That screening needs to be requested specifically, which wouldn't necessarily be recommended since neither of you had any reason to suspect there was anything on either sides of your family. So even if you did the standard genetic screening this probably would not have been caught. I'm so sorry you're going through this, but try to give yourself a little grace. You couldn't have known and you have nothing to feel guilty about.

[u/ElemWiz → u/Little_Emu2309]

[u/hanshotgreed0]

I’m so, so sorry. Just remember, there is no right or wrong choices for any of this, just the choices that are best for your family. Sending so much love and support to you

[u/effienay → u/hanshotgreed0]

And don’t ever feel any kind of way about asking for and accepting help.

[u/fuglyjeans]

[u/Goddamnitjanice]

I'm so sorry to hear of what you and your family are going through. Things are scary right now, but I want to share my own piece. I work with adults with intellectual disabilities, and several with fragile x. I help them find employment and make community connections via a day program. Many of our individuals lead fulfilling lives and have jobs like rolling silverware at restaurants, janitorial positions, folding pizza boxes, sorting recycling or working in mail rooms. They could not be prouder of themselves or their work. Every job is important, so even if your sons may not be able to have what some consider a traditional job, support them and they can still do great things. You seem like such a kind parent, I am wishing you all the best.

[u/Typical_Cook_6376]

When one mother cry we all cry. Sending much love your way.

[u/Clear_Assignment7692 → u/Typical_Cook_6376]

I don’t know if I’ll ever be a mom but I cry with yall too ❤️🫂

[u/climbing_runner → u/Typical_Cook_6376]

I’m crying now! 😭😭😭

[u/Pr1nc3ssButtercup → u/Typical_Cook_6376]

Aunties too.

[u/no_winkles → u/Pr1nc3ssButtercup]

This auntie certainly is.

[u/Necessary-Layer8990]

[u/Padrestavern]

[u/Bubbly-Ad8645]

Those are some incredibly difficult cards to be dealt. I'm so sorry. Amongst all of the pain and grief you must be feeling, it's so very thoughtful and gentle of you to think of your unborn baby's future like that. Sending so much love ❤️

[u/Pixatron32]

I am just so very sorry. I've worked I disability and Fragile X is so hard on families and parents. I'm 22 weeks pregnant and just devastated for you, your husband, and your boys. 

I hope your third boys amniocentesis comes back clear. 

[u/Little_Emu2309 → u/Pixatron32]

Thank you so much. Amnio is scheduled for next week, then more waiting for results. But congratulations!! I hope your pregnancy is going well and that you have a smooth delivery!

[u/Life_Anybody_2340]

I am so sorry you are going through this. Your beautiful babies will love you no matter what. No matter what condition they have, or milestones they don’t hit you are their world and they are yours. It will all be ok. Sometimes it can feel like the world is collapsing and you can’t see past that when there is still so much good to come. ❤️ take each day at a time.

[u/thegrimmstress → u/Life_Anybody_2340]

This is beautiful but misses the chance of Mom being incapacitated at a relatively young age and the worries about who will be there to take care of their boys when they are gone. Those are very valid concerns for her.

[u/Making2025 → u/thegrimmstress]

Exactly. The original comment is sweet, but it doesn’t acknowledge that OP may have a big decision to make about her pregnancy, and that she should trust in herself that whatever choice she makes is decided because it’s best for her and her family ❤️

[u/Live-Tomorrow-4865 → u/Life_Anybody_2340]

This response is beautiful and its beauty, as is so oftentimes the case, lies in its truth. OP, I'm so sorry for the shock of this diagnosis. But, these babies will delight you in ways that fill your whole heart, as do all children for parents who love them. 🤗 to you and your beautiful family. ❤️

[u/NotYourHny → u/Life_Anybody_2340]

I hope OP reads this as many times as needed. When everything feels uncertain, remembering the love you already share with your babies can mean so much

[u/GingerDixie]

I...Don't have words. Only empathy. I am so sorry.

I work with genetic counselors and clinical research staff drawing blood for patients with chronic/fatal and heritable (or possibly heritable, some of the studies are trying to determine if there are heritable biomarkers that correlate to pathological signs) neurological diseases. ALS. Huntington's. Parkinson's. All of those are terrible to see, but the silver lining is that I work with adults who understand their diagnosis and have more or less accepted it.

To have a child with a severe diagnosis like this (as well as the guilt of finding out you are a carrier) is...unfathomable. Sorry isn't enough, but it is all I have to offer.

[u/Raagamuffintop]

My younger brother has fragile-x and while yes, he can't hold a traditional job, he lives a full life. I understand how hard it is, I spent my childhood wishing things were different and I am sure you will always wonder in your heart. But I want you to know that they will LIVE and LOVE and so will you. My brother texts me, he calls me, he has learned to use technology in such complex ways. It seems so hard right now and it won't be easy in the future but I promise you things won't seem so bleak. They will surprise you and they will thrive in their own ways. I'm sending you so much love and hope and hugs.

[u/FickleNectarine570]

I'm so sorry you are going through this. First and for most, you are allowed (with no guilt later!) to feel all of the feelings. With no guilt later. As a mother to a developmentally disabled child I know how that guilt can eat at you. Don't listen to it. You are doing an amazing job. Whatever the future holds, may you be blessed in your path. Your boys are so lucky to have you, and you them. Remember how amazing you are. You will get through this. Big hugs.

[u/blahblahsnickers]

I am sorry. My adopted brother has this and also has autism because fragile x is the most common gene cause of autism and they often go together. So just realize he may still have autism as well. My father adopted my brother after his parents had passed and he was an adult. I know it is hard to think about but there are good group homes and also people who will take in adults with special needs such as my father and his wife.

My brother is very much loved and spoiled. His parents loved him during the time they had him and he is well taken care of now.

[u/gemma-digger → u/blahblahsnickers]

This is so nice to read. Bless your dad and his wife.

[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.

[u/helpimalivelol]

So sorry to hear that. My heart goes for you. I hope everything works out fine

[u/uffdaGalFUN]

Oh that's such a lot for you to take in. Wow! I can't even imagine what you are going through now. Then being pregnant as well? I'm hoping for the best for you both.

No judgements given to either of you. You're going through enough without any outside expectations. Do whatever you need to do. Please be patient and kind to one another during this time you're going through now. What could possibly be more stressful than what you are now faced with making decisions with. Sending internet hugs from a virtual stranger.

[u/barbariat]

My brother has Fragile X Syndrome. My mom worked very hard on his early intervention and even though he was severely delayed in all of those areas as a child he is now 28 and talks non-stop, reads and writes (with moderate impediment). His life is very social, he lives with an in home caregiver, plays sports, goes to the local community college SPED program to keep his reading and writing in use, goes to the gym with friends and a caregiver, has a girlfriend. He's a fixture of his community and many folks recognize him and say hi when he's out and about. His life looks different than mine but arguably he has more going on for him socially than I do tbh. Something to think about for your kids now if it helps. Get involved in the FRAXA community if you aren't already. There are resources there that may support you if you'd like.

As someone who is hesitant to have kids because I know the effort involved in raising a developmentally delayed child, I respect whatever decision you make regarding your pregnancy. And anyone who judges you for it cannot possibly understand your experience and is not worth listening to. I can't imagine how hard this is for you and everything you are already dealing with. My spouse and I have had these types of conversations preemptively because he knows what I experienced growing up. Sending a lot of love your way

[u/familyofbanks]

Hello. I hear you. I also found out I was a fragile X carrier when I was pregnant with my daughter. I’m also an SLP and have seen this diagnosis first hand. The news… It hit me like an absolute fucking truck. We had absolutely no reason to suspect anything like that. I was already 20 weeks pregnant. It suck’s because it’s just not the baby, it’s also you. It’s so much. I get it. I am so sorry, and I am sending the biggest hug 🫂

I’m sure you’re on it, but I’d get further AGG testing to see how many “stops” you have in your X. It can be helpful to understand the risk you carry overall, for both your own sake and for transmission.

[u/LeatherRecord2142]

My heart breaks for you, sis. None of this is fair (or even ok). I’m sending you so much love; and hoping that there will be silver linings and some really good karma along the way for you and your sweet family.

[u/desi-vause]

God I’m so sorry for what you’re going through. I don’t know what to say other than that my heart is with you.

I terminated a pregnancy due to trisomy 22 late last year. She likely would not have made it even if I didn’t terminate, but in the rare event that she did her life would have been extremely short and nothing filled with pain and suffering. It truly is the most compassionate option sometimes. There’s a really great TFMR support group here on Reddit and I would recommend checking it out if you guys end up getting another positive result for fragile X syndrome. Only you know what’s best for you and your family and you deserve to be supported in whatever choice you make. ❤️

[u/SnooChickens2116 → u/desi-vause]

Sorry for your loss, too.

[u/Making2025]

Hey, when you’re ready, I recommend looking for support groups. You are not alone, and you can learn from other families. You can also use groups to vent, celebrate wins, and have a 3rd-space away from home. And, if you’re busy and going out to a meeting is just too much, there are usually virtual support groups. See if your doctors have any tips, or can recommend someone who can connect you. I bet there are even subreddits on Fragile X to help you get started.

That said, please know it’s ok if you’re not ok. You are going through so much, and this is a lot. Please take some time to yourself whenever you can to do restorative actions just for you, even if it’s laying down for 10 min and closing your eyes. One step at a time, this doesn’t all get “figured out” today ❤️

[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/Somanylyingliars → u/Ok_Answer_96]

My heart goes out to you for you diagnosis w brings its own pain. Seems like you've done your research and now use that knowledge to educate other others. I know I learned a few things from your post. Thank you for your excellent post.

[u/boo_boo_kitty_fuckk]

I'm so sorry, it's a horrible situation to be in. r/tfmr_support has been an amazing community 🙏

[u/Chainmailveil → u/boo_boo_kitty_fuckk]

I hope you see this OP, there’s so much good support and information here in this sub. I’m am so sorry for you and your family, this is such and awful situation to be in

[u/Purple-Persimmon-975]

Hi mama,
I’m a mother of a 6yo boy with fragile X and my 6 month old daughter just got diagnosed with cerebral palsy.
I’m so sorry you are going through this, I know the heartache that comes with this diagnosis. Please know there is no shame in asking for help, when things become too heavy, reach out to those services that are available to you.
Although my son does struggle quite a bit and is delayed, he is the sweetest boy in the world. Speech therapy, occupational therapy and a play based therapist will really benefit him. I would also contact a therapist for yourself, this helped me so much with coming to terms with things.
We are in contact with other fragile X families and while yes, they are still dependant on their family/carers, there is a lovely group of boys that volunteer at the local pool working the canteen!
Please feel free to message me if you ever need a chat, support, advice, anything. You are not alone in this ❤️

[u/Dependent-Bug1219]

I am so sorry. I wish the US healthcare system was better, so that tragedies like this could be avoided. It's not your fault that you were new parents that couldn't afford expensive tests.

[u/therabbitinred22]

I’m so sorry you are going through this. My son is diagnosed with ASD and ADHD and there is a chance he will be able to work, but we are preparing in case he cannot.

Are you in the US? I just wanted to let you know that adults with disabilities and SS can sometimes receive paid assistance. I used to work for a company that would match adults with special needs together in a house and then share the services. For example, if there are three housemates who all receive 8 hours of care per day from their SS benefits, that would translate to continuous care for three adults living together. They would help make sure the bills were paid,help with budgeting and grocery shopping, cooking, and take people to social activities.

I know things are really scary right now, but I wanted to let you know that even if you children have delays and disabilities, you can set them up for success before you and your husband pass.

Sending lots of hugs.

[u/Meowrlyn]

I used to work in neurology and took care of a family that had two adult sons with fragile x. That family was happier than most neurotypical families I know. The brothers got along well. Loved their mom fiercely. And while they did still require support, they were fairly independent.

[u/Plenty_Kangaroo5224]

I’m so sorry you’re dealing with this. Many hugs.

[u/francienolan3]

I am sorry about this. I am sure that it is so much all at once and I can only imagine. I will say that I grew up with a boy with fragile X, and while he does not live a “normal life” he is independent and an integral part of our community. When he was a teenager, he would go swim at the neighborhood pool on his own. I worked as a lifeguard there and we all loved him. Now I see him at the gym working out all the time working out. He has friends and a independent life as a young adult. I am sure that your sons will develop into wonderful adults and are amazing kids now.

[u/No_Tangerine1957]

I’m so sorry doesn’t even cover it.

[u/ijustlovebobbybones]

While it’s devastating, it Sounds like he has parents who love him very much. Hoping the best and sending hugs 🫂

[u/Relativelyworried565]

I work with special needs kids. I dont have children of my own but I have seen parents for 10 years and have come to understand what its like for them to get a diagnosis. I know this is difficult. I'm sorry.

I work with kids with fragile X syndrome as well. Theres one kid on mind that stands out in particular that I worked with 9 years ago. Love that kid. While maybe academically he was behind, he was very independent, we potty trained him, we taught him how to communicate and found out his special interests and he was very smart and had his own strengths. He was 9 when he moved onto a different place and stopped coming to the place I worked at, worked with him from the age of 6. He learned a lot.

[u/Muchado_aboutnothing]

I am so extremely sorry. You sound like a wonderful mom, and this is not your fault. Carrier screening should be free and offered to anyone — by making it cost hundreds of dollars, they basically incentivize people not to do it. And the odds of something like this happening are so low that you couldn’t have expected it. I deeply pray that the baby you are carrying is healthy. 🙏

[u/dashkakakashka]

I'm so sorry this is happening to you. I'm not a mother, I have no scope of what you are feeling right now. I'm just some stranger on the internet, begging you with all my heart to seek out some sort of counseling for your grief and guilt, whatever hapoens and whatever you decide.

[u/Brief-Dress-4976]

I’m so sorry. May I ask what made you all question the diagnosis? My oldest has autism and it just seems so…complex? I’m wondering if there’s more at play.

[u/VirgoVixenTX → u/Brief-Dress-4976]

Honestly, children with demonstrated delays should always receive genetic counseling and rule out any genetic disorders as part of a full work up. I hate that the US healthcare system doesn’t have this as standard of care.

[u/Brief-Dress-4976 → u/VirgoVixenTX]

I fully agree! We cut so many corners here. She was diagnosed super early at 3 years-old. At first I was worried about San Filipo because she had some traits of that, too. They really should be testing for a multitude of things as autism is so similar to other diseases and disorders.

[u/DrustanAstrophel → u/Brief-Dress-4976]

If you think there’s something else instead of or in addition to autism going on, if you’re able to get a referral for genetic testing for your kid I would absolutely recommend it. A friend of mine had her son tested when he was diagnosed with autism, and he turned out to have a genetic deletion as well (I don’t remember which, this was years ago). That knowledge helped their family understand him and how to help him better.

[u/3merZ → u/Brief-Dress-4976]

Are you able to see a developmental pediatrician? I work at a large children’s hospital in an autism-specific clinic. Try to find something like that near you and request genetic testing with a dev ped appt. It is offered to many of our families when they get a diagnosis.

[u/Little_Emu2309 → u/Brief-Dress-4976]

Hi! So my husband was the one that questioned the diagnosis from the very beginning. He did a lot of reading on autism and kept feeling like it didn't really fit how our son behaved. An example he used: our son will get upset when he has trouble expressing himself, but as soon as his need is met, he's fine. From everything he read, children with autism seem to have trouble regulating their emotions after getting what they want. Then he started reading about other disorders like ADHD, speech apraxia, anxiety...they all seemed to fit and not fit at the same time, if that makes sense. Also, many people that had worked with our son (early intervention specialists, multiple amazing workers from his daycare that specialize in special education) all independently said that our son just didn't act like the other children they've worked with that had autism. Genetic testing through his neurologist was a simple cheek swab and cost us about $1200 (they also tested my husband and myself). I hope this kind of answered your question. Please let me know if you have any more

[u/Temporary_Abies_3664]

I really feel this post. I have multiple disabled children. My oldest who seemed fine with only adhd developed schizoaffective disorder in his early 20’s. He’s currently been in psychosis for 3 weeks. My 4 others have autism. 3 level 1. My youngest has a rare genetic mutation caused level 2 ASD she is nonverbal. I probably should have not had so many I was 4 kids in when the 1st ASD dx came. I told my husband I would get an abortion if there was an accidental pregnancy

[u/HeathenHumanist → u/Temporary_Abies_3664]

Oh my god, I am SO sorry. That all sounds so deeply exhausting. Sending you internet hugs, if you want them

[u/Temporary_Abies_3664 → u/HeathenHumanist]

Yea I am and it’s bad right now since my husband works for a politician and has been gone so much in the last few months. In the home stretch now he will be gone for at least 2 weeks this time.

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

Just to add on one more note: When I had learned similar information for myself, I struggled with a lot of guilt and self blame, and like I would be doing a disservice to my kids by contributing to their genetics. I had to do a lot of work to get through that, and I can tell that you’re in the thick of it, so I just want to tell you this to keep in mind during these times.

The kids you have and the challenges they face have truly saved me in so many ways- I genuinely owe my life to them, the way I see it. If kids with Fragile X or other disabilities didn’t exist, I would have no purpose. If parents like you didn’t do all the work that you’re putting in to help your child, I don’t even know what my life would look like because being able to support them and make sure they have every tool they need to ensure they are happy as often as they can possibly be and are able to keep themselves safe and healthy means everything to me. You have had to go through so much fear and anxiety, and I thank you for every sacrifice you make as a parent to children who will need us helpers in their futures. While I’m sure it won’t be me specifically, I will take the liberty to speak on behalf of the others in this field when I say: We are so excited to help you and your family. Together, we’re going to make sure everything will be okay 🫶

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

I adore my special needs students.

[u/kylaroma → u/Healthy-Ad-8937]

Thank you so much for this heartfelt response. I’m a parent of one of those kids, and you couldn’t matter more to these families.

When we’ve met people like you who are so invested and understanding, it’s like finally being able to breathe again after being underwater. I often end up crying with relief afterwards.

In case no one has said so recently, thank you from the bottom of our hearts.

[u/namethatworks]

There are so many internet strangers holding you and your family in our hearts.

I encourage you to check out the National Fragile X Foundation, which was founded more than 20 years ago by a mom of two sons with Fragile X.

[u/CharliesAngel3051]

I am so sorry. Praying for your family!

[u/peachydizzle]

this is so heartbreaking, i'm so so sorry ❤️‍🩹

[u/Ok-Duck2450]

I wish I had more to offer than I’m so sorry, and you get to do what ever you need to do to grieve.

[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

[u/LMAODumb]

Everything you are feeling is ok. It’s a heavy diagnosis but I will tell you…my aunt is a fragile x specialist and has been a doctor in that field since I was born. I have grown up with fragile x kids and while there are significant challenges there is also profound beauty.

There is nothing I can say that will sway how you’re dealing with your current pregnancy. That is so heavy. I’m so sorry it’s a decision that is impossible. I hope you know whatever you choose there is no wrong answer.

Most people don’t even consider what life looks like when you know your child will be left to fend for themselves at some point. No one could make this choice easily everything you feel is NORMAL. I have seen so many parents struggle with this diagnosis you are not alone. There is a supportive community I would highly recommend for your mental health. Sometimes we just need to know we’re not alone in this life. It helps to brainstorm with other parents dealing with the same challenges.

I wish I could give you a hug. I think all you can do is follow your heart fully knowing that there isn’t a wrong answer. Whatever you choose is ok.

[u/PostDowntown]

this is 100% your decision and your decision only , but regarding fragile x i wanted say: i have worked with two young adults now with fragile x , both were lovely dudes , one was in my college inclusion program, and the other I supported as a job coach. Both guys were generally healthy, happy, and both have jobs now! Family support seemed to play a huge role in the positive aspects of their life. However, all things considered , this is an impossibly hard decision to make and whatever you choose is what is correct, there is no "wrong decision" I just wanted to give you a perspective from someone who works with people with disabilities. wishing you well and so sorry you have to make such a difficult decision.

[u/Threnjen]

I'm so sorry. That's all just hard.

[u/Express-Carob-6432]

I’m so so sorry! I’m also a carrier of fragile x. I’m hopeful that things will turn out okay for this pregnancy, but if, god forbid, you need it, there’s a really supportive community here for terminations for medical reasons.

[u/chumbawumbacholula]

Damn. I wish I knew you irl so I could make you and your husband some really good soup. Don't feel guilty. Every parent is just doing the best they can. We're all human, that's all we can do.

[u/Old-Parking8765]

[u/terraunited]

You seem like such wonderful, thoughtful, caring parents. I’m so sorry, I hope the universe fills your cup with support and resources

[u/GoldenSalt31]

Omg sending you so much love and light ♥️✨

[u/Tigger_Tinkerbell]

That sucks op. Big hug to you v

[u/crunchyfoliage]

I've typed and deleted a few paragraphs, OP. There really are no words for how impossible this situation is. You sound like a really amazing mom and whatever decision you have to make for your family and sounds like it will be made out of so much love and care. This internet stranger is sending a lot of love from afar 💕

[u/Friendly-Champion-81]

I’m so sorry ❤️‍🩹. All I know is that you sound like a wonderful Mom.

[u/kag11001]

A friend of mine also has three sons. Their first son was fine. Their second and third sons started out fine, and then life happened. They developed Friedrich's Ataxia.

All three boys are wonderful people, and their mom is a fiercely joyful, funny, bada$$ human being. (Dad is unfortunately out of the picture, by his own choice.) But two of the boys will never see old age. She treats every moment with them as if it's a present she has to wrestle away from the universe.

All this goes toward saying, devastation is the right word. My heart aches for you. But I hope that, like my friend, you can grow something beautiful from the devastation. I hope you can keep love and joy in your life, and be there for all your boys, Fragile X or not.

This is so hard. I'm so sorry. All the hugs to you and your husband and your babies. ❤️‍🩹❤️‍🩹❤️‍🩹

Edited to add, good on your husband for following his instincts. I hope he stays a good, strong protector for you and your boys. All the hugs. ❤️‍🩹❤️‍🩹❤️‍🩹

[u/SweetandSourCaroline]

I am so, so sorry. Just know that your kids can still enjoy a full life and contribute to society - who knows maybe their donated blood or tissue samples could help move the scientific research forward on this genetic condition.

I want you to also know that your kids will be loved as adults - even after you’re gone because there are kind people in the world with love to give.

I am 41 and while I have nieces I adore I haven’t met someone to marry/have kids with and I mourn that…but then I turn the love that I have to give over to my community in different ways - and I know there are people where you live who are just like me and have extra love to give and care for others.

Call the Midwife is a really good show that touches on all kinds of baby/health/parent/community topics and there are a ton of episodes. Maybe give it a try.

[u/SweetandSourCaroline → u/SweetandSourCaroline]

and ps the sausage and beans look delish!! your boys have a good mama!!

[u/Macha_Grey]

Hello OP. I also had a son with severe genetic disorders. We found out at 22 weeks and I had an abortion at 23 weeks. It was hard and devastating, but the best outcome my son could have. If you want to talk more about this, I am happy to talk with you either here or in DMs

[u/Evieveevee]

I’ve always been pro choice. Always. But felt for me, termination wasn’t something I could do. I could cope with a medically/intellectually challenged child. Oh how naive and innocent I was! My first born has a genetic disease. 1 in 4 chance of having another child with it. When I was pregnant again, the foetus tested positive for it. I would have had another child with it but it wasn’t about me and what I could cope with. It is about the child I already had and how my time and attention would be split. The family came first, not me. It really was a huge wake up call that what I was wanted didn’t even come into it. I’m not sure any of this makes sense but just to know I’m thinking of you.

[u/Human-Warning-1840]

I’m so sorry. Thats a lot to deal with. It would break my heart but I would probably terminate if the unborn has it too. You already have a lot on your plate. Join support groups and take each day as it comes. Good luck

[u/Kitty_5885]

Do what's best for your family. It's not going to be easy, but I, a stranger on the Internet, support your choice whatever your family makes.

[u/Indy2561]

First, I’m so sorry. Bless you.

I’m a career social worker and have met some of the most amazing, loving parents who have children with developmental issues.

They all spoke of the initial shock and emotional pain, but they did not have the choice to change courses.

So they embraced their child’s issues and became involved in communities with other parents. Yes, it takes persevere and work to find and locate others like you, but that community is out there.

Grieve your loss, this is healthy. But you have the chance to be a different person who is in touch with your actual soul.

God Speed ♥️♥️♥️

[u/LESBINNIIE]

So sorry you are going through this. It is not your fault and you are doing the best you can. I wish you and your family the absolute best💗💗💗

[u/Abject_Spray_7088]

Oh Honey…. 🫂

[u/the_baberuthless]

Sending you love and healing, OP. 

[u/down_by_the_shore]

I’m so, so sorry you and your family are going through this. Hang in there. Your dinner looks delicious by the way. 

[u/JaBe68]

I am so sorry that you and your husband have to go through this. Internet hugs across the miles.

[u/Karenzi]

[u/millennial-money]

So sorry you are dealing with this. Sending hugs and strength

[u/AngletonSpareHead]

Oh sweetheart. This is so, so awful.

Okay. As a fellow mom who ALSO has a serious, hidden, heritable genetic disorder (which killed my dad) that WILL disable me in the future AND has a 50% chance of passing to my one single precious child…..I need to say this.

It is not your fault.

It’s not.

We who have genetic issues did not do anything to earn them. It’s just a clod of shitty, shitty luck.

It was literally a random high-energy cosmic ray that entered our atmosphere, smashed through our ancestor’s DNA molecule, and caused a mutation—which would not have happened if that ancestor were standing even a millimeter away. (Is that not WILD? But it happens all the time, to everyone. Mostly our bodies fix it. But sometimes they can’t.)

You made the best decisions you could with what you knew at the time. You didn’t get testing because it was too expensive AND because serious genetic disorders are rare. The odds were absolutely in your favor. Almost everyone who makes that same choice is just fine.

You got unlucky again.

But being unlucky DOES NOT make you stupid, negligent, unworthy, or wrong.

Please please take these words and hold them next to your heart: Being unlucky does not make you unworthy.

Both of us got dealt a crappy hand. Personally, I find a little tiny bit of comfort in remembering the many ways I did get lucky in this life. That might not work for you. But I’m holding you in solidarity, sister.

[u/SendMeYourFloofs]

My family has this diagnosis running in it. Some of my uncles have Fragile X but the number of repeats on their X chromosomes make them carriers, not intellectually disabled. One had tremors and one does not. One aunt had a severely disabled son in the 80's because they did not have early intervention. One aunt had a son in the 2000's that is able to go to a special needs college and will be able to work. It is a chromosome disorder with a broad spectrum of dysfunction. Whatever you choose after the genetic screening is the right choice for you and your family.

One of my cousins has started early menopause and has been testing and storing her eggs. I know this process isn't available to everyone but some jobs offer fertility benefits like Progyny.

[u/himshpifelee]

Hey OP, I just wanted to send a hug, but also point out that the autism dx may not be incorrect. My son was tested for Fragile X after we received his autism diagnosis because there is a significant overlap/comorbidity with the two. I am so sorry that you're coping with this, especially while you're pregnant with another boy. I'm hoping you're amnio results are clear, and that you all find a way to navigate this. <3

[u/Iamlyinginwaitforit]

My heart goes out to you. I have a child that will never live independently and no idea who will care for her when we are gone, but you have so much more on your plate now. Don’t even finish reading any comments that question your judgment about termination. You have to do what’s best for the kids you have.

[u/Saxboard4Cox]

My younger half sibling has level 3 autism. He went to a variety of special private schools, therapists, and residential and adult day care programs here in the US. Long story short, my mom relocated from the US back to her home country in the EU more than a decade ago. Both of them are thriving as result of having access to an amazing selection of national healthcare services, ADA focused family support services, and post age 21 educational support services. Social workers have a long term plan in place to transition my sibling from a part time group home to a full time apartment set-up with his friends and caretakers. All these services are available to them because they hold dual EU citizenship. You may want to look into whether you qualify for EU citizenship and the ability to access these type of family support services long term.

[u/octopussy5000]

My mom’s younger brother and sister have fragile X. My mother is a carrier. I don’t have siblings with this condition but I love my aunt and uncle!! And so do my sisters. I don’t know what to say but this syndrome has always been a part of my life. I’m sorry your son was misdiagnosed, I can see the physical and facial markers of fragile X in a person and know they have it before being told. I feel that your doctors have let you down. With the right care and support a lot of people with Fragile X live independent and fulfilling lives. My grandmother who was a carrier went through a full normal life and had 6 kids besides her mother and two affected siblings (9 total). I don’t think she had early menopause. She didn’t have those other issues either. My affected uncle lives in an assisted living facility and my aunt independently. They are the favourite aunt and uncle of all 24 cousins from my mother’s family 

[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/velvetandcurves]

I am so very sorry. I don't have any words of wisdom. I am sending you love.

[u/butteritneedsbutter]

I have no words.

[u/Bulky-Hamster7373]

Oh I'm so sorry. Please take care of yourself

[u/umhell]

Sending you do much love. I'm so sorry you're all going through this. ❤️

[u/FullPreference7000]

What an impossible decision. I don’t think either choice is wrong in any way. Both are hard. Sending hugs to your heart, and your boys 🫶

[u/CuterThanThouu]

I’m so sorry. I can’t imagine how you feel. I hope that you will be able to join support groups and find comfort within them.

[u/Camie-Gee]

Sending love your way. This is a huge load for you and your family. Please DO NOT blame yourself.

If you & Hubs aren't already, this may be a good time for couples therapy. You all have a lot to process and plan for.

My heart is with you. 💕

[u/dominoespizza69]

So sorry ❤️‍🩹

[u/BlackShieldCharm]

I am so, so sorry.

[u/she_makes_a_mess]

Dang. My heart goes out to you and your family. 

[u/AlphaNautilusNarwal]

You are not alone in dealing with this. Please try to connect with others who also have children with Fragile X. No one knows the trenches like someone who has been there. https://ourfragilexworld.org/resources-for-families

[u/stitchwithoutbitch]

I am so sorry.

[u/YinzerChick70]

My heart is breaking for you and your husband. May you find peace and consolation.

[u/NotWhatIPaidFor]

Oh my sweet fellow Mom. I’m so sorry. The grief has hit you in waves.

[u/crystalfairie]

Oh honey!this is not your fault. Nothing I say could make this time better so gentle hugs for when you need them

[u/Twonka]

I'm sorry about the news about your son's disabilities. I am autistic levels 3/2( I'm level 3 social and level 2 for restricted/repetitive behaviors I am labeled moderate support needs), and I didn't even get diagnosed with autism until a couple months ago(I masked very heavily due to cPTSD). I can never have a job and I can never be independent( I never have been able to). I need support in most areas of my life but I'm still very happy and I have a good life. Just because your son has disabilities doesn't mean he can't a fulfilling life. And there should be at least some options for your son there is a lot more resources for autistic children especially with a intellectual disability, you should look and see what's in your area as other people have suggested

[u/SongbirdOfDeath]

Hi, I am just so so sorry you’re going through this. Sending you big hugs from one mom to another. I found out 20 weeks into my first very planned pregnancy that my son had an extreme structural abnormality that would cause him a lifetime of suffering and pain. We made the agonizing decision to TFMR in January.

Your choice is yours and you will do the best you can for you and your family. You are strong and resilient. ❤️‍🩹🫂

[u/Weird_Inevitable8427]

I'm a special education teacher and fragile X kiddos are some of my favorite! I know they can be hard to raise. HELLO, STUBBORN! (So significant, it's closer to OCD.) But so sweet and so funny! I've had the best time with some of these boys.

I hear you on the tough decisions you have to make around your pregnancy. Don't let anyone tell you it's an easy answer, because it just isn't. I love the disabled kids I work with. And I have disabilities of my own. I'm glad to exist. But it's hard. Very hard. I would be thinking carefully on this decision too, not out of hate for fragile X kids, but just so that my family remain in a state that we can handle all of their needs, both typical and atypical. We don't live in a society that is super supportive of families who are managing disability.

[u/Frosty_Cow_]

Sending you hugs.

[u/smsyvr]

Im so sorry to hear this but if it makes you feel any better, I used to work for a family doctor who had fragile X and she was a fantastic knowledeable doctor who had 3 kids of her own and is having a really full fun filled life.

[u/madbee84]

Hey OP, I just wanted to reach out as someone who has terminated a wanted pregnancy. Please know there are many families who have been in your shoes before. I know several women who terminated a pregnancy after receiving the same diagnosis as one of their living children. Only you know what is best for your body, your baby, and your family. 

I deeply relate to not wanting to see or feel the baby, but when I was going through my devastating diagnosis, another TFMR (Termination for Medical Reasons) mom I met online encouraged me to instead lean in and connect with my babies (I was pregnant with triplets) for the remainder of my pregnancy before it was terminated. I loved on those babies as much as possible. I talked to them and explained why we we made the decision we did. I took pictures. It was hard and I don't regret it. As soon as I woke up from my procedure I felt immense relief and I knew I had made the right decision. That being said, the grief was all consuming for a long time, but I'm 12 years out now and I'm so grateful I was able to get the care I needed. 

[u/katelyra]

My son also has a genetic mutation, different than Fragile X, and random, not genetic, but with developmental delays and surgeries and being misunderstood. It is a cycle of grief and in the beginning I cried so so much. There is support out there. You are far from alone. My best friend is also a mom with a son with a genetic mutation. Others will understand and provide so much comfort. No one knows what the future holds, but from my limited experience, my son has surpassed all expectations placed upon him by doctors and therapists. He is a gift and has made me a better person and a better mom. Some days are really rough and I do worry about what’s to come, but there’s also slivers of beauty and gratitude. You are loved and I’m sending you the biggest hug xo

[u/katelyra]

My son also has a genetic mutation, different than Fragile X, and random, not genetic, but with developmental delays and surgeries and being misunderstood. It is a cycle of grief and in the beginning I cried so so much. There is support out there. You are far from alone. My best friend is also a mom with a son with a genetic mutation. Others will understand and provide so much comfort. No one knows what the future holds, but from my limited experience, my son has surpassed all expectations placed upon him by doctors and therapists. He is a gift and has made me a better person and a better mom. Some days are really rough and I do worry about what’s to come, but there’s also slivers of beauty and gratitude. You are loved and I’m sending you the biggest hug xo

[u/sbinjax]

I'm so sorry. That's rough.

[u/ccsparkles]

This is just so so so devastating OP. Please please please try to be gentle on yourself as you did not know, and as you said didn’t think there was any reason to test early.

Please seek some sort of support group either of those whose family also has the condition or a therapist. This is heavy, you need to be able to talk to and lean on supports. Also finding a Fragile X group either in person or virtually can help to connect with those who understand what you’re going through and those that may have a wealth of knowledge on what you will encounter with your sons and what to anticipate in the future. I’m not sure if they exist but worth looking into once you have some time to process what’s happening and get your results back.

Wishing your family ease and comfort during this crushing time. 💔

[u/Green-Edge706]

I’m so sorry. None of that is easy, and to have it all compounded is particularly hard.

Hugs to you.

[u/alifelesscyberly1]

As a special needs parent I understand the grief that comes with diagnosis. I’m glad you have options. Please take care of you!!

[u/Former-Physics6551]

You’re doing your very best momma; whatever choice you make I believe that you only want the best for your children.
Only happy parents can give their children a good life, hopefully you will be able to find ways to give your babies the best life you possibly could.
It’s not your fault, you couldn’t know about your genetics, I personally think you did not make a mistake but you do sound like your babies are the most important part of your life <3

[u/ChaucersDuchess]

Oh sweetie I am so sorry. That’s so much to take in at once.

[u/StarryEyedSparkle]

I’m so sorry, this is a type of grief that is difficult to find others who can relate to … grieving the change of your children’s future. Compounded with potentially needing to make a decision based on what the results may say with the current pregnancy.

Whatever decision you and your husband make will be the right decision for your family. Period.

I’m sure there are support groups you can join, including broader ones for families with genetic disorders. Consider joining them, it can be helpful to hear from other parents who can commiserate with you.

[u/elisap1]

I’m so sorry, there’s nothing anyone can say to make it better. The best you can do is love him and raise him to be the best person he can be. He will still find happiness, he will still love you, and he will still smile. It just will be different from other kids. You’ve got this. Take it one step at a time

[u/MaxDreamsOfZombies]

Aw hugs. This is so tough. It's not your fault, sometimes life is just cruel like that. You are being wonderful loving parents to your two children and I'm sure you'll find solutions as life goes on. There is a way to offer dignified lives to your children and you will find it. This is a big blow, and you'll need some time to process and grieve, but eventually, life finds a way. If you do terminate please do not feel guilty - see it as giving yourself and your husband the chance to give all your attention to your two children. Wishing you both the best.

[u/MargotLannington]

Jesus. This is so much to deal with. This sucks and it is NOT YOUR FAULT.

[u/Fairy_Kitten4502]

I have nothing to say, I am just so sorry. One disabled child is hard enough but having 2 with another on the way before even finding out is so incredibly tough. I am sending you so much love and positivity and I pray that you and your family find a way through this.

[u/CuriousBee789]

As a former special education teacher and somebody who miscarried five times herself, there's really no good way to address what you're going through sensitively. As unfair as it may seem, this is a "lesser of two evils" choice. If the one I was carrying now also have the same disorder, I would have to terminate. The amount of pain and grief I would experience over the termination would be much smaller than worrying we would all experience over a lifetime of care for a second severely disabled child. Accepting the termination outcome would be easier for me knowing I'll have medication and therapy to help me move forward. And statistically speaking, divorce rates among parents with one child with a disability are are devastatingly high to begin with. Two children is almost a guaranteed divorce sentence. It's just that fucking stressful on a partnership. So I very gently but aggressively recommend therapy. Individual therapy, family therapy and couples therapy. Antidepressants and anxiety meds if you can. Support groups too. Good luck to you and your family. I am so very sorry. It's not your fault no matter how many times you're going to wonder if it was. This is all super unfair. Plain and simple.

[u/winterandfallbird]

Just all so unfair. I am so so sorry. That is so much for one family to process. 💔

[u/Betty2445]

Genetic diseases are so so tough to deal with. The amount of guilt we feel as parents is enough to break us. So I'm sending you hugs 🫂 It's a shitty thing to deal with.

Could you make contact with other families who have this condition? You won't be the only ones who have dealt with this news - see if you can speak to others, and take all the support you can ❤️

[u/Farma_nojeva]

That's a lot for one family to deal with. I'm sorry. It is NOT something that you deliberately caused. It is NOT your fault. Sending you hugs. 🤍