Freaking out about Fragile X

December 17, 2021 1:40 AM

We are in the middle of assesments for our children and have been advised to do genetic testing due to our difficulties and some (painful and scary) family history on my side. We won't know until March but I can't even find any positive stories online or stories that resonate and I am feeling pretty sad. Does anyone know of any resources or have experience with this they can share?

My younger child (5.5) was recently diagnosed with Autism and my older child (6.5) is being assessed for ADHD. I also took him to a neurologist to assess for dyspraxia and when she asked about my family history it came up that my brother had learning difficulties and has had severe psychiatric issues as an adult and has basically had a very very poor outcome. She advised genetic testing because she felt that there was more going on and given the family history this was a good idea. When I read more about Fragile X I got very scared because it describes my brother to a T and my kids have a lot of the symptoms (although are a lot more highly functioning than the actual stories I read about actual people) and I have some of the symptoms of a carrier as had my mother and her mother. They both passed away before 60 so I can't talk to them about it or anything and its always been a fear of mine that somehow this would happen to me, or that something would be passed down to my children, but this is the first big clue that maybe there really is- and I am very scared. My kids are super smart but they do have learning difficulties and concentration issues but I had always assumed that if I could get them through school that they would live normal lives. The last month or so has really shook that faith and I can't really find any resources about people who have had good outcomes or independent lives, or gotten married and I feel like if I could find some stories like that I could feel hopeful again. Also, any experiences or advice is very welcome. I won't know the outcome of this until mid march. Thank you in advance.

posted by catspajammies to Human Relations (13 answers total)

I'm sorry, this does sound tough. I can offer you a lovely twitter account - Stu and Matt McDonald are young adult twins with Fragile X living in Edinburgh. They're happy and delightful and seem generally pretty pleased with life. Their dad keeps their twitter account up, and while I don't think they're living fully independently, there are lots of pics of them at work, going to the football, playing rugby, on holiday, and generally doing normal happy things. So perhaps not an example of people with Fragile X living independently and getting married, but certainly an example of people living a wonderful, fulfilled life with Fragile X while receiving some support.
posted by penguin pie at 3:26 AM on December 17, 2021 [4 favorites]

Hey, I know how very, very hard this is. What are you doing to take care of yourself? One thing that helps me is having other parent friends in the special needs world. Another thing is reminding myself that worrying and perseverating doesn’t actually do anything. And also accepting that a diagnosis doesn’t actually change who my kid is. It’s a pretty radical task but you have to reject the notion of “normal.” Realize your job is to add joy to your kids’ lives and teach them everything you can.
posted by haptic_avenger at 6:45 AM on December 17, 2021 [8 favorites]

One other thing… I like to surround myself solely with practitioners and teachers and theories/therapies that are positive about my kid. No exceptions!
posted by haptic_avenger at 6:47 AM on December 17, 2021 [7 favorites]

And mods I apologize for the serial posting. One other thought: I actually reject genetic tests and diagnostics that aren’t going to do anything to help my kid. You could always just cancel the Fragile X test. The genetics of autism are complex, and my sense is that they are more for the benefit of curious scientists than people with autism. Because they don’t change anything about the clinical approach to your child.
posted by haptic_avenger at 6:51 AM on December 17, 2021 [5 favorites]

Clinician here, offering a counterpoint to the point above: diagnostics add information to however you approach a situation in the long term. It can be uncomfortable to have certain knowledge, but identifying relevant knowledge isn't generating new troubles. Anecdotally, I was diagnosed in childhood with a condition for which there was no treatment, let alone much understanding. As an adult, I've participated in clinical trials, found a community of people and support resources in the same boat, and am very grateful that I had my specific niche pointed out from what is otherwise a very muddled backdrop of people with similar signs and symptoms but with no diagnostic clarity.

The last month or so has really shook that faith and I can't really find any resources about people who have had good outcomes or independent lives, or gotten married and I feel like if I could find some stories like that I could feel hopeful again.

I worked here for a year during graduate school. The resources there aren't always complete for every possible condition, but I encourage you to spend some time with it. Specifically, connecting with some or all of these groups may be the path to the information you're looking for (I've pulled these from this entry in the database, omitting the contact info just so they don't become outdated over time in this response):

FRAXA Research Foundation

National Fragile X Foundation

The Fragile X Society

Organizations Providing General Support:

American Association on Intellectual and Developmental Disabilities

The Society for Developmental and Behavioral Pediatrics
posted by late afternoon dreaming hotel at 7:42 AM on December 17, 2021 [9 favorites]

I was going to say what haptic said above. I am also skeptical of needing a diagnosis right now unless it adds something useful to your child -- i.e., medications they can take, or extra support at school. But if you're treating the issues you see now, if you are getting your kids the therapy and support they need at every stage, if you are bolstering their weaknesses and full-throttle supporting their strengths, I don't know what a diagnosis does except add worry (and often, lower expectations.)

Also, your brother, if he does indeed have the same condition, grew up in a time (probably) where these things were seen differently, where therapies weren't as widespread, and information and sensitivity about handling special needs were also not widespread. Your kids are not your brother, and you are not your parents.

Whatever you decide, take a deep breath, take care of yourself, and remember that your kid is a singular person who has never existed before, and will never exist again. I would also stop the internet searches!
posted by heavenknows at 7:42 AM on December 17, 2021 [2 favorites]

Fragile X has a strong community support and likely can give emotional suport during this testing period. The National Fragile X Foundation is a good starting point.

You can certainly step back from testing (presuming it has not yet started) but I'm going to offer that a diagnosis can be useful in tying you into a defined community and into giving an idea of long-term expectations and implications not just for you and your children but for your cousins, etc who may not be aware of the family history. Keep in mind availability of testing may depend on your insurance. And having/not having certain diagnoses may impact ability to enter into certain educational/research protocols.

And also to bear in mind that if the Fragile X test does not establish a diagnosis, there are innumerable genetic conditions that lead to autistic behaviors and other testing may be suggested.

Overall some families do step back from the "diagnostic odyssey" or take a slower path and test as merited by life's needs, while other families find comfort in knowing as much as soon as possible, feeling even negative info is info.

If your genetic counselor or geneticist is not willing to explore this with you, an open-minded family therapist can also work with you on what is best for you and your family.
posted by beaning at 7:43 AM on December 17, 2021 [1 favorite]

I have a fairly benign genetic condition that can cause serious medical complications in late middle age and potentially a reduced lifespan. The reason that it's benign is that I'm fortunate to have a treatment that reduces this risk significantly. My situation is not like yours, but there are a couple of relevant things.

I found the genetics counselling I received to be excellent and really helpful in order to understand what the risks and benefits were to finding out whether I had the condition or not. One of my siblings is a carrier, and they find that helpful to know as they don't yet have children, but the ramifications for your extended family will be different and good genetics counselling should help you think that through. If you've already had genetics counselling and you are waiting for the results of the tests, I encourage you to think positively about the decisions you have made and your reasons for them.

The other thing I wanted to mention is that my mum found that she had an awful lot of guilt about being an unknown/unwitting genetic carrier. I wondered whether part of your reaction to this potential news relates to your own status. If so, I encourage you to explore ways you can let go of any guilt or responsibility you feel. This is not your fault, because there is no fault to be had. Your children are who they are already, and yes in some ways they are different from many neurotypical children. It is also clear that you love them, and want them to fulfil their potential. I am confident that you will be able to support them to fulfil that potential, whatever it might be.
posted by plonkee at 8:20 AM on December 17, 2021 [8 favorites]

When my best friend had a serious illness that led to years upon years of testing and procedures and seemingly endless medical processes, the mantra we adopted for every scary genetic test, blood test, scan, MRI, etc. was "It's better to know than not know." Because knowing is in itself a kind of power.

I'm sorry this is such a big, life-changing and painful thing for you to be going through, and doubly sorry that finding out the result is going to take a long time. But in the end, it's better to know than not know.
posted by BlahLaLa at 11:25 AM on December 17, 2021 [1 favorite]

My oldest (9) has a genetic disorder and when she was diagnosed at 11 months we were told most children with her disorder die in toddlerhood. When she was three a new stem cell treatment came out and I now have a very healthy nine year old. The medical field (especially gene therapies) are evolving by leaps and bounds right now so just because something had historically bad outcomes doesn't mean it will for your kids necessarily. We also found that there were actually more kids with a mild form of her condition than they thought previously that genetic testing was revealing, showing that it was much more of a spectrum than originally thought and not as deadly, just that the deadly cases ended up at the doctor's and the mild ones were un/misdiagnosed.

I know this is all super scary, I'd encourage you to join some sort of support group so you have other people going through something similar to talk with. Hugs.
posted by julie_of_the_jungle at 11:35 AM on December 17, 2021 [8 favorites]

I have lots of personal, immediate experience with Fragile X and its effects have varied person to person in my family. That said, your description of your sons' challenges are much, much more mild than anyone in my immediate or extended family. Your kids are already 5.5 and 6.5 years old. You know more about your sons' challenges than anyone who isn't in your immediate family. I'm glad that you are getting a full genetic work-up, and it was very useful to my family. That said, if you are trying to predict your sons' futures, the best guide is probably their actual pasts and presents.

Feel free to memail me if you want to talk more specifically.
posted by ferdydurke at 6:24 PM on December 17, 2021 [1 favorite]

I’m also a parent to a kid with a rare genetic disorder that can cause a wide spectrum of neurological and medical issues. My son was diagnosed via newborn screening, but some states/countries don’t screen for his specific genetic disorder, so sometimes people are diagnosed later in life. We got DNA testing done to confirm his initial diagnosis, and I remember how hard it was to wait for those results to come back - we were hoping for a chance of the newborn screening being a false positive, but the DNA test was conclusive.

But after 9 years of regular visits to the geneticists and neuropsychologist, I can say that with a prognosis as variable and unknown as my son’s (there are not a lot of adult patients still alive), the general treatment approach has been to meet him where he is at in the moment. They are very interested in tracking and monitoring his progress, but as long as his blood/lab results are OK and he’s not diverting wildly from his own growth/development/learning curve, we all just keep on keeping on. When there are hiccups along the way, it helps to have a diagnosis and a medical team ready to jump in, so it’s good you are able to pursue genetic testing.

If you can, though, I’d gently encourage you to step back from researching all the possible diagnoses for now or going too deep into a specific rabbit hole. Even with a diagnosis, the doctors probably aren’t going to have all the answers - a lot will rely on you helping them get to know your sons and their needs. Hugs to you and your family as you try to figure things out.
posted by Maarika at 7:16 PM on December 17, 2021

Also, looking at information about Fragile X specifically, people with Fragile X live normal length lifespans and there are some but relatively few associated medical conditions. The range of impairment in adulthood varies significantly and is not very well studied. Some people (more often women) with Fragile X have adult lives indistinguishable from people without Fragile X. Other people need more support, but there are many examples of people forming relationships and holding down jobs. Anxiety and depression seem to be more limiting co-morbidities than anything else. This study from 2011 looks at the adult lives of men and women with Fragile X, born generally in the 1970s and 1980s, and shows the wide levels of variation.
posted by plonkee at 7:54 AM on December 18, 2021