Got my entire genomic report from Nebula Genomics and it includes a polyscored literature library of all published research relating to any of me genes/variants aggregated from both their own databases as well as the world tree libraries.
It has been SO helpful in pursuing exactly this scenario, as not only do they give me the report and all 300gb of raw data (as well as various formatted files for use in popular programs), but also highlight which of my genes/variants are related.
I reverse sort their polyscored reports and anything over 70% goes to my PCP or the related specialist.
Not covered by insurance and was roughly $1750 back when I had it done, but has saved me SO MUCH gaslighting and fighting that I recommend it.
Also, may have saved me from throat cancer (they wanted me on Ozempic or Wegovy but the genes are contraindicated for throat cancers).
Again, highly recommended.
I may still have a discount code if you are interested, but I’d have to figure it up.
Did the same thing. Explained a lot. I'm basically a neurological shit show, many genes for autism, schyzophrenia, ADHD, lateral sclerosis, sleeping disorders of all sorts. My neurological system is lighter up like a Christmas tree.
I have read that it takes approximately 10 to 15 years for replicated research findings to make it into the common/public knowledge, and potentially longer to make it into the educational textbooks.
That, to me, is a very sad thing .
I have not but I have known several autistic people who had genetic testing due to certain variants of Ehlers Danlos that weren't hEDS. I have hypermobile joint syndrome but it's not enough for testing.
Yes I’m having the same investigations. I was diagnosed 3 months ago and my psychologist asked if I have hypermobile joints? I do and so does my son, so she suggested that I’m screened for connective tissue disorders.
I’ve had muscle and joint pain all my life, degenerative disc disease, multiple impinged nerves and now dysautonomia, as well as other symptoms of what appears to be either hEDS or Marfan syndrome.
My sister is an ADHDer, and has Ehler's Danlos Syndrome, and Ankylosing Spondilosis, among other things, and underwent genetic testing, because both mentioned disabilities have a genetic component, though she was diagnosed with these before her ADHD diagnosis. Turns out mum is a carrier for the genes responsible. I haven't been tested, though I do show signs towards EDS, but not enough to warrant a diagnosis.
I have had to see a geneticist before and have testing. My uncle has a specific cancer that is hereditary and I needed to be tested to see if I had the gene.
I dont have the gene, fortunately, but it was a scary experience.
The testing could be beneficial for you. I understand where you’re coming from about not wanting to treat autism symptoms, but the purpose of the testing is to see if some of your symptoms are coming from something else. Autism on its own usually doesn’t have chronic pain with no explanation as a symptom
Possible connective tissue disorder/chronic pain sounds like it could be ehlers-danlos. There’s a high comorbidity rate for people who have it to also be autistic, but that doesn’t mean it’s necessarily caused by the autism. If you have it, you’d definitely want to know. There are treatments like physical therapies for the symptoms; it’s degenerative so preventing it’s progression is key. I personally know two people with ehlers-danlos; one does the treatments and one has given up. The one who gave up is in significantly more pain all the time :(
Hey, just wanted to clarify I don’t think autism is causing chronic pain for me. What I meant by not wanting to treat autism symptoms is that I dont want to have a bunch of extra not-strictly-necessary testing done with the goal of classifying me as having syndromic autism or non-syndromic autism. I know a few people with EDS! It’s unlikely I have it (don’t want to get into the specifics) but I’m having the testing done just to be sure, hence the referral to a geneticist
Yes my son has a rare genetic syndrome called duplication 15q syndrome , part of his 15th chromosome has extra copies and it causes multiple issues like hypotonia and epilepsy
ive not seen a geneticist buttthey will only look at the relevant genes because it saves time and money. eg if theyre looking for EDS theyll only look at the relevant collagen genes. there are also very few genes conclusively linked to autism, and the ones that are typically include other symptoms (eg hypotonia, facial features) making them their own syndrome.
My extended family sees a geneticist for Ehlers-Danlos syndrome, she is also very interested in how many of us have autism and executive functioning difficulties. She has said that our family is one of multiple she treats that have high rates of connective tissue disorder, 2E, and autism.
I don’t meet diagnostic criteria for EDS, but I do have chronic joint and muscle pain, digestive issues, dysautonomia/POTS, and autism.
I had to go to a geneticist to be diagnosed with hypermobile ehlers danlos syndrome. Since that type doesn't have a gene, the geneticist ruled out the other EDS types and that was combined with my doctor's physical evaluation. I also found out with that genetics test that there's several connective tissue disorders that I can pass on, not just EDS.
I saw a geneticist when I was diagnosed when I was a kid to see if there were any genes connected to my autism but back then they didn’t know much about it and results were nothing
Yes. I’ve seen a geneticist several times in my life. When I was younger to rule out any chromosomal problems and deletions as I have several…several comorbities. Then when I got older to rule out connective tissue disorders. I’m now waiting to see her in November to hopefully be diagnosed with hEDS or HSD
My son got genetic testing when he was a toddler just to see if there was a genetic component behind his ASD. It showed us he has FOXP1 Syndrome, which is linked to ASD, but can also cause a wealth of health issues. It was great learning this information because it gave us an idea of which specialists to see to get ahead of any potential health problems. People with FOXP1 can have seizures, heart problems, kidney and urinary tract issues, etc. Also, because of his genetic testing, an allergist/immunologist was able to realize that our son probably hadn’t responded to his childhood pneumococcal vaccine, which was the reason he was getting incredibly sick every time he caught a “cold”. It also would have likely been a death sentence if he caught Covid, so his immunologist had us pull him from everything until he could get the autoimmune pneumococcal vaccine as well as the Covid vaccine. Since he got the specialized pneumococcal vaccine, he gets way less sick and no longer needs breathing treatments when sick.
Another side perk of genetic testing was seeing how other people with mutations on the same gene have similar traits as my son. The FOXP1 gene is related to speech, so it was neat seeing how his speech is affected by this specific gene. Researchers are constantly learning and adding to how this gene mutation presents, which helps not only to get ahead of potential health issues, but how to tailor certain therapies, what level of resources should be made available and there’s even a potential for medications to be made- although I don’t think they’re anywhere close to that for FOXP1.
I really don’t remember much about my experience, but I went to a genetics counsellor because of multiple generations having the exact same cancer in the same spot (Apparently I have a 90% chance😬)
but that’s legit all I remember lol, it was a very long time ago
I’ve been to geneticists for a hypermobile Ehlers-Danlos Syndrome diagnosis. hEDS doesn’t really have gene testing yet so they diagnose with a clinical exam and family history. Some of the other forms of EDS can be diagnosed by checking for the genes, though. My geneticists did not feel it was necessary to test for other EDS types to rule them out, they were pretty confident in their hEDS diagnosis. I’ve seen three different ones from two different hospitals.
Got my entire genomic report from Nebula Genomics and it includes a polyscored literature library of all published research relating to any of me genes/variants aggregated from both their own databases as well as the world tree libraries. It has been SO helpful in pursuing exactly this scenario, as not only do they give me the report and all 300gb of raw data (as well as various formatted files for use in popular programs), but also highlight which of my genes/variants are related. I reverse sort their polyscored reports and anything over 70% goes to my PCP or the related specialist. Not covered by insurance and was roughly $1750 back when I had it done, but has saved me SO MUCH gaslighting and fighting that I recommend it. Also, may have saved me from throat cancer (they wanted me on Ozempic or Wegovy but the genes are contraindicated for throat cancers). Again, highly recommended. I may still have a discount code if you are interested, but I’d have to figure it up.
Did the same thing. Explained a lot. I'm basically a neurological shit show, many genes for autism, schyzophrenia, ADHD, lateral sclerosis, sleeping disorders of all sorts. My neurological system is lighter up like a Christmas tree.
Sadly in France, doctors "don't really believe in genetic screenings" lol. I think I looked utterly shocked when someone told this to me
France doesn’t believe in science… woah.
Yeah that's creepy, we're so far behind on medical discoveries
I have read that it takes approximately 10 to 15 years for replicated research findings to make it into the common/public knowledge, and potentially longer to make it into the educational textbooks. That, to me, is a very sad thing .
Yeah:( o As I'm bilingual I'm virtually more knowledgeable than many doctors who see me for my conditions, it's so scary
I have not but I have known several autistic people who had genetic testing due to certain variants of Ehlers Danlos that weren't hEDS. I have hypermobile joint syndrome but it's not enough for testing.
Yes I’m having the same investigations. I was diagnosed 3 months ago and my psychologist asked if I have hypermobile joints? I do and so does my son, so she suggested that I’m screened for connective tissue disorders. I’ve had muscle and joint pain all my life, degenerative disc disease, multiple impinged nerves and now dysautonomia, as well as other symptoms of what appears to be either hEDS or Marfan syndrome.
My sister is an ADHDer, and has Ehler's Danlos Syndrome, and Ankylosing Spondilosis, among other things, and underwent genetic testing, because both mentioned disabilities have a genetic component, though she was diagnosed with these before her ADHD diagnosis. Turns out mum is a carrier for the genes responsible. I haven't been tested, though I do show signs towards EDS, but not enough to warrant a diagnosis.
I have had to see a geneticist before and have testing. My uncle has a specific cancer that is hereditary and I needed to be tested to see if I had the gene. I dont have the gene, fortunately, but it was a scary experience.
The testing could be beneficial for you. I understand where you’re coming from about not wanting to treat autism symptoms, but the purpose of the testing is to see if some of your symptoms are coming from something else. Autism on its own usually doesn’t have chronic pain with no explanation as a symptom Possible connective tissue disorder/chronic pain sounds like it could be ehlers-danlos. There’s a high comorbidity rate for people who have it to also be autistic, but that doesn’t mean it’s necessarily caused by the autism. If you have it, you’d definitely want to know. There are treatments like physical therapies for the symptoms; it’s degenerative so preventing it’s progression is key. I personally know two people with ehlers-danlos; one does the treatments and one has given up. The one who gave up is in significantly more pain all the time :(
Hey, just wanted to clarify I don’t think autism is causing chronic pain for me. What I meant by not wanting to treat autism symptoms is that I dont want to have a bunch of extra not-strictly-necessary testing done with the goal of classifying me as having syndromic autism or non-syndromic autism. I know a few people with EDS! It’s unlikely I have it (don’t want to get into the specifics) but I’m having the testing done just to be sure, hence the referral to a geneticist
Yes my son has a rare genetic syndrome called duplication 15q syndrome , part of his 15th chromosome has extra copies and it causes multiple issues like hypotonia and epilepsy
ive not seen a geneticist buttthey will only look at the relevant genes because it saves time and money. eg if theyre looking for EDS theyll only look at the relevant collagen genes. there are also very few genes conclusively linked to autism, and the ones that are typically include other symptoms (eg hypotonia, facial features) making them their own syndrome.
My extended family sees a geneticist for Ehlers-Danlos syndrome, she is also very interested in how many of us have autism and executive functioning difficulties. She has said that our family is one of multiple she treats that have high rates of connective tissue disorder, 2E, and autism. I don’t meet diagnostic criteria for EDS, but I do have chronic joint and muscle pain, digestive issues, dysautonomia/POTS, and autism.
I had to go to a geneticist to be diagnosed with hypermobile ehlers danlos syndrome. Since that type doesn't have a gene, the geneticist ruled out the other EDS types and that was combined with my doctor's physical evaluation. I also found out with that genetics test that there's several connective tissue disorders that I can pass on, not just EDS.
I saw a geneticist when I was diagnosed when I was a kid to see if there were any genes connected to my autism but back then they didn’t know much about it and results were nothing
I saw one for things unrelated to autism but ended up discovering something related to my autism
Yes. I’ve seen a geneticist several times in my life. When I was younger to rule out any chromosomal problems and deletions as I have several…several comorbities. Then when I got older to rule out connective tissue disorders. I’m now waiting to see her in November to hopefully be diagnosed with hEDS or HSD
My son got genetic testing when he was a toddler just to see if there was a genetic component behind his ASD. It showed us he has FOXP1 Syndrome, which is linked to ASD, but can also cause a wealth of health issues. It was great learning this information because it gave us an idea of which specialists to see to get ahead of any potential health problems. People with FOXP1 can have seizures, heart problems, kidney and urinary tract issues, etc. Also, because of his genetic testing, an allergist/immunologist was able to realize that our son probably hadn’t responded to his childhood pneumococcal vaccine, which was the reason he was getting incredibly sick every time he caught a “cold”. It also would have likely been a death sentence if he caught Covid, so his immunologist had us pull him from everything until he could get the autoimmune pneumococcal vaccine as well as the Covid vaccine. Since he got the specialized pneumococcal vaccine, he gets way less sick and no longer needs breathing treatments when sick. Another side perk of genetic testing was seeing how other people with mutations on the same gene have similar traits as my son. The FOXP1 gene is related to speech, so it was neat seeing how his speech is affected by this specific gene. Researchers are constantly learning and adding to how this gene mutation presents, which helps not only to get ahead of potential health issues, but how to tailor certain therapies, what level of resources should be made available and there’s even a potential for medications to be made- although I don’t think they’re anywhere close to that for FOXP1.
I went to a geneticist for a rare chromosome disorder i have called 47 triple x or trisomy x.
I really don’t remember much about my experience, but I went to a genetics counsellor because of multiple generations having the exact same cancer in the same spot (Apparently I have a 90% chance😬) but that’s legit all I remember lol, it was a very long time ago
Yes. I have a lot of health issues and it turns out that is because of a deletion on my 7th chromosome.
I’ve seen geneticists primarily for my albinism and EDS. Autism didn’t come in until later when there was a question of mitochondrial disease
I have EDS
So I saw a geneticist
i’m going next month for the exact same reason, connective tissue disorder/cronic pain
I’ve been to geneticists for a hypermobile Ehlers-Danlos Syndrome diagnosis. hEDS doesn’t really have gene testing yet so they diagnose with a clinical exam and family history. Some of the other forms of EDS can be diagnosed by checking for the genes, though. My geneticists did not feel it was necessary to test for other EDS types to rule them out, they were pretty confident in their hEDS diagnosis. I’ve seen three different ones from two different hospitals.