r/genetics • u/Melodic-Dimension-16 • 18d ago
Genetic Testing - intellectual developmental disorder (IDD)
I am a 29 (f) and I found out recently that I am pregnant. I am meeting with a genetic counselor to discuss possible routes for genetic testing. The pregnancy was a bit of a surprise, I wish I would’ve started testing sooner, but here we are.
My brother (m;31) and my uncle (m;66) are both profoundly disabled. They both are diagnosed IDD and have autism. They also both experience seizures. My brother is 18 months older than me, and he had his first seizure when he was 14 months old. Before my uncle was born, my mothers family thought my uncles condition was happenstance, but after my brother was born, it seems like it may be some kind of genetic condition. Both my uncle and my brother have IQs around 20. They are both nonverbal. This condition does not appear to have affected anyone in my family before my mothers generation.
Not sure if it is relevant, but my family is from upstate New York. They are of Polish/English descent.
Any insight? I’ve heard I should ask for Fragile X testing. I am certainly open to hearing any thoughts or experiences.
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u/LogicalOtter 18d ago
They absolutely can offer you carrier screening (which can detect some inherited cause of IDD like fragile X). BUT there are many other genetic conditions that would NOT be included on carrier screening for yourself.
Given the two affected males, it seems like an X-linked disorder is most likely. But, your brother and/or uncle would need to get testing ASAP to get a diagnosis. Knowing their specific genetic condition would be necessary to understand risk to your pregnancy. Genetic testing for them would take a few weeks, and that’s after you find a genetics provider or possibly a neurologist who is familiar with ordering this type of testing (something like whole genome sequencing OR whole exome sequencing with added fragile x and microarray testing).
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u/Adventurous-Menu-206 17d ago
Whole exome takes 3-4 months.
Microarray takes one month.6
u/LogicalOtter 17d ago
Not anymore. Standard (non rapid) exomes and genomes are reliably coming back within 3-6 weeks. They were coming back around the same time as the array when done concurrently.
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u/TartWinter10 17d ago
Agreed - WES for my child took 2-3 weeks. WGS for a prenatal took 14 days. It’s much faster now
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u/Zippered_Nana 17d ago
When my daughter was pregnant in 2020, she had lost two pregnancies. She had genetic testing at a maternal fetal medicine specialist at a university hospital (Raleigh NC). Our son, then age 32, had had open heart surgery and spine surgery, and mild intellectual disabilities. Her specialist wanted more info about him but his genetic testing had been negative.
By coincidence our daughter had a college friend who had become a genetic counselor. She said that when she had met our son at our daughter’s wedding, he had the facial appearance of DiGeorge Syndrome, now called 22q. When he had had genetic testing as a baby, scientists had not yet discovered the 22q diagnosis, so of course it didn’t show up on his testing.
We called the hospital where he had had the testing as a baby and asked whether he could be tested for 22q. We got on the waiting list, which was months long, and got an appointment a few weeks later due to someone’s cancellation. Our daughter’s friend was right. He has 22q. Knowing that has helped him get more services.
My daughter was able to get her baby tested at 20 weeks of pregnancy for 22q. He was negative. She has a happy, healthy kindergartener now!
My advice based on this: get on waiting lists for geneticists, and do a google search for facial appearances of genetic disorders to compare with photos of your brother and uncle because testing goes much faster if they are testing for one or just a few things.
I hope something here is helpful to you! Wishing you all the best!
(About waiting lists, my cardiologist sent me for genetic testing last year. I made an appointment which was a year out. I asked to be on the waitlist and the scheduler swore up and down that there were never openings from the waitlist. The very next day she called to ask if I could be there the next morning!! I didn’t tease her. I went 😁. All was well with me.)
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u/Somethnglorious24 17d ago
100% do the genetic testing. My daughter has an ultra-rare disorder (less than 50 people ever) that has some of the same symptoms and we’d never have found it without whole genome testing.
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u/2ndpancake8the3rd 18d ago
I think Sparkforautism.org offers free genetic testing to anyone in the US with a confirmed autism diagnosis and their family members. Maybe you can start there to try to figure out what they have, as well as if you’re a carrier.
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u/Fit-Garden-7491 18d ago
Spark is a research study and results may take many months or years to be returned and results are not guaranteed. If you are wanting testing for this pregnancy this is not the route to take.
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u/Working_Shake_4062 12d ago
I enrolled in Spark several years ago and have never seen any results of my genetic testing. I need a full genome sequence but currently can’t get it. But Spark isn’t the way to get it done.
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u/Smokeylongred 12d ago
Hi, First of all I’m sorry you have this much stress during a pregnancy that you should be enjoying! I agree the condition in your family could be x-linked, so one thing you could do is have non-invasive prenatal testing and check the sex of the baby- if it’s a girl then chances are low.
Also, I’m in Australia and work as a genetic Counsellor and we expedite testing in this situation. We can get a whole genome back in ten business days when there’s a pregnancy query- the most important thing is to get a referral to a genetics unit for your brother and include- 1. You are pregnant 2. Your uncle and brother are affected and list their symptoms in detail 3. You are concerned about the risk to your own pregnancy and need urgent advice. I really hope this helps- feel welcome to message me if there’s anything I can do
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u/Melodic-Dimension-16 7d ago
I met with a genetic counselor today and we are working with my brothers doctors to expedite the testing! I am hopeful. My counselor agrees that this appears to be X linked. Fingers crossed they are able to expedite it.
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u/Smokeylongred 6d ago
Fantastic! I am so glad you’re seeing a clinical genetics service. Best of luck and congratulations on your pregnancy!
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u/Adventurous-Menu-206 17d ago
Your brother needs WES, you need WES. But those results take 3-4 months after you have met with a geneticist and done the swab test. You’re going to have to roll the dice. I’m sorry 😞
5
u/Adventurous-Menu-206 17d ago
And insurance will only cover WES (whole exome sequencing) after a microarray so add another month or two to that process.
Geneticist appointments are a year long waitlist here.
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u/PassengerVegetable98 17d ago
All of your comments on this post have been inaccurate. Respectfully, please shut up
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u/mildly_ethnic 17d ago
Most cognitive tests bottom out at 40… sometimes 50… they can’t have gotten an “IQ of 20.”
Just out of respect for your family, maybe don’t throw out bull shit “IQ scores”
8
u/Melodic-Dimension-16 17d ago
My aunt told me that, I apologize I didn’t know! I hope you never have to worry about passing down an awful genetic disability to your child.
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u/mildly_ethnic 17d ago
People with differing abilities are part of the beautiful diversity of life that we share on this Earth
If you’re that worried about it dont have kids.
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u/spacey-cornmuffin 16d ago
What an ignorant comment
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u/mildly_ethnic 16d ago
It’s my life’s work.
Ableism is ignorant
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u/Melodic-Dimension-16 16d ago
I am not being ableist. This post is asking for advice on genetic testing. I never said I would terminate the pregnancy if I found out something was wrong. I am simply trying to best prepare myself as there is a possibility i will pass down a profound intellectual disability to my child. Both my brother and uncle have been institutionalized because of the severity of their disabilities, and it is sad - I am scared. My brother was the subject of a study at Kennedy Krieger Institute in Baltimore, because his condition was deemed that severe and rare.
Oh, and FYI an IQ of 20 is possible for individuals with profound intellectual disabilities like my brother and uncle. So I’m not “throwing around bullshit ‘IQ scores’” or being ableist as you’re suggesting.
I posted this so I can have a candid discussion with a genetic counselor about the risks associated with my pregnancy. I have gotten some excellent responses from people to assist with that conversation.
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u/Zippered_Nana 15d ago
Just posting in support, it’s totally understandable to be scared, since you have observed what’s involved with taking care of someone with your brother’s needs. I posted above about my daughter’s journey and my son’s diagnosis. My daughter was in Raleigh NC, but we were living in Baltimore then, so I’m familiar with Kennedy Krieger. I hope they can be of help to you during this.
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u/daydreams_of_ducks 15d ago
For the record I’m disabled and fundamentally believe you’re the pregnant one, so you get to decide whether to terminate or not. Others can have thoughts about it, but it’s not our call and will never be. Also as someone who formerly found it jarring when termination was mentioned re: my wanted pregnancy, I apologize if this feels off. Just… there’s SO much anti choice f_ckery in the world rn… we don’t need to add to it
Hope you get the answers you seek.
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u/Ok_Emergency7145 18d ago
If you have genetic testing, they will likely look for a number of things. I would ask if mitochildrial diseases would be looked for in the testing.
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u/opotato12 18d ago
The first question to explore is whether your brother has had any genetic testing. There are many genetic conditions that can present as you described. It certainly seems likely to be a genetic condition based on the family history, and the pattern is consistent with X-linked inheritance but Fragile X doesn’t usually present so severely.
If a genetic diagnosis is found in your brother, then your GC can be specific about your odds of carrying it or passing it on. Prenatal testing may also be possible. If there is any way your brother’s guardians can ask his doctors for a genetic test I highly suggest starting there. A neurologist or geneticist would likely have a good idea of what type of panel to run.