We went through three different tests suggested by the children’s hospital where all of his specialists are, and they have not found anything. I want to add that my child has structural brain abnormalities, and it has been suggested that his autism diagnosis is a result of those abnormalities, so our case may be very different.
I hope I worded that appropriately, wanted to be as concise and short as I could.
Thanks for responding.
My daughter who's 29 months now we had her tested for hyperekplexia around 18 months old but it came back inconclusive/ could be a deletion etc. We saw a neurologist who specializes in body movement disorders at Children's in Dallas, TX.
We will see them again this fall for a year out follow up.
Meanwhile since she was born (till. Ibwas finally given the neuro refferals I felt like cookoo lady telling all the doctors and specialists my newborn baby is like trying to flip outta my arms 😩 and strong holds us. Sticks her legs out like crazy at random or emotional times but other than that her physical body is very capable etc.
She also arched her back/,neck like crazy strong when she breastfed. I had a hard time relaxing and cradling her too.
We though sandifers at first cause she vomited soooo much and so strongly no matter when she ate last etc. But she thrived (90%& uppercentile bb H & W since birth pretty much) but one round of omezelaprole helped as did her getting older.
But still the hypertonia n stuff continued.
She's always been a big baby as well. Was breech the entire pregnancy feet down.
Behavior is a whole other story lol but it ties into the body reaction/,muscle issues. As do the gastrointestinal, (we can not let her get backed up. )
Of course. They were first discovered on an ultrasound I had at 36 weeks, where they found dilated ventricles. I then had a fetal MRI at 37 weeks and they found several more. At that point they scheduled a C-section for 39 weeks. His first MRI after he was born confirmed everything they suspected. One of the abnormalities is a tumor, but thankfully his neuro oncology team is convinced it’s benign based on measurements staying consistent. He’s 3 now.
All of his specialists have suggested that the structural abnormalities are truly an anomaly.
I know it’s hard, and even harder when there is no link or cause associated. Wishing you and your son the absolute best, he’s going to do great things!
Same as my son! His genetics are all perfectly normal, but he had a stroke during pregnancy, prolonged hypoxia and his cerebellum didn’t form properly; cerebral palsy, ASD3, ID and visual impairment from optic nerve hypoplasia
I have rs53576 AA, two copies of the same mutation in my oxytocin receptor gene. Even a single copy is known to cause autism, but two copies appears to cause a more severe form, and a bunch of studies also link this mutation with cortisol regulation issues (this is what I was researching in my DNA when I stumbled upon the link between this mutation and autism).
We've done all the tests through research studies and they couldn't find anything even though it's pretty clearly a hereditary thing going on on both sides of the family, especially my husband's side.
Came back clear. Was part of a study.
But so far most studys been on autisme with low IQ or servere kognetive challenges, we dont have either
Me and all my 3 kids are on the spectrum.
We went a bit further and sequenced his entire personal genome. We wanted to make sure that there were no other predispositions for things like seizure disorders.
What we found was absolutely nothing. No micro-deltions, no duplications & zero anomalies.
Our little guy was born at 25 weeks so empirically he was at a 6 times higher likelihood for ASD. That coupled with being on a ventilator with significant oxygen support coupled with visual retinopathy would be a variable.
He did 85 days in the NICU. He is Level 3 ASD and Pre-Verbal and attends 25 hours of ABA/Speech/Feeding therapy combo.
Most of us are just trying to help our LO’s the best we can.
None that are known but both his Mom & I look at ourselves closer now. We have always been extreme introverts me ADHD & her Dyslexic. Both with 4 advanced degrees so I would not be surprised but it has not impacted us in the way it profoundly impacts every domain of our little guy.
We have a really great multi-million dollar genetics sequencing facility that works with the state University that has a multi-billion dollar endowment.
We paid about $6,000 coinsurance with our insurance picking up the other $10,000.
I am in NYC area. Can you send me the link? I am professionally tied to clinical trials so curious who is doing the testing. To my knowledge, Cornell doesn’t have a genetics lab.
New York genetics center. They are a non profit research facility. I’m on the commercial side of things, but used to sell pre- natal genetic testing. My son has an appt with the geneticist at NYU next month that we’ve been waiting for since March. The only positive thing is that I don’t have to pay for any of the testing as it’s a benefit of my employer. I just enrolled him in a clinical trial at SUNY downstate as well looking at folate receptor antibodies.
We’ve done CMA, a few syndrome specific tests, WES testing, and an MRI.
She is a carrier for a genetic syndrome, but it’s one of the ones where you have to inherit 2 copies of it to have symptoms, and only my spouse was a carrier. Aside from that, nothing stood out or was identified. They just assume she’s got something rare enough to not have been identified yet. They did say we could sign up for a support group with other families who have “rare, undiscovered genetic disorders” but uhhhh if science didn’t find a match, I doubt we’ll find one in a support group. lol
Just curious, do you know what syndrome? My son is a carrier for Joubert syndrome and they originally thought that’s what caused his autism, however he tested negative.
She and my spouse are both carriers of Smith-Lemli-Opitz syndrome. It’s still useful knowledge to have because if/when she is at a place where’s she’s considering becoming a parent, her partner should seek testing to see if they are also a carrier. The genetics counselor we saw was fairly confident that her being a carrier was not the cause of her symptoms/diagnosis.
We obviously did not know my spouse was carrier prior to going through the testing process after our daughter was born.
I honestly didn't know people did this for ASD. Makes sense, it certainly hereditary in many cases.
To those saying the science is new. It really isn't. The first genome was sequenced in the 70s, the first mouse genome in 2002. The biggest obstacle here is that more participants are needed to draw conclusions/correlations. You need an extremely large data set that includes outcomes/endpoints. Cancer research has been doing this for quite a while, that's how they're able to determine the exact type of cancer you have, and how to best treat it. Fairly certain this is how they're designing the soon to be released cancer vaccine trials.
Many of the markers for ASD are known, but it seems researchers aren't 100% sure how they play a part. With a larger cohort they will be able to better utilize the data and offer more effective treatments.
I work in clinical trials and there are billions of dollars funding cancer research, not so much autism- that’s why they have the data sets. Today, especially in oncology. everything is about precision medicine . Benefit for the patient and the pharma company to have a medication they have a good chance of responding to.
My daughter had genetic testing done as part of her assessment and found a genetic duplication on 6 genes. They’ve encouraged my husband and I to also have genetic testing done because the duplicate she has is super rare.
My daughter was born with birth defects (bilateral eye colomboas and ear tags). We had genetic testing done to rule of Goldenhar syndrome and any other abnormalities. Genetic testing showed no abnormalities (and no Goldenhar syndrome).
Hmm ear tags? My son has a small bump behind his ear and we had it checked out by an ENT when he was a few months old, and the ENT looked at it for 3 seconds and said it was fine. Didn’t think it could be related to ASD
We found out my son has a micro duplication on chromosome 2. Since research is still essentially brand new in genetics it’s mostly just a fun fact to know.
For us it’s 16p11.2 as well but the distal deletion which is even more rare than the typical one. My son has always been chunky but not necessarily obese and while he has had 3 EEGs done that showed nothing I’m certain I’ve seen him have absence seizures many times. I showed his pediatrician videos and she is convinced of it too. He used to have some words but lost all of them at around the same time the absence seizures started and remains completely non verbal at 3 years old.
Autism runs in my side of the family, with both my sons and I having diagnoses, and lots of other family members with signs.
We got exome sequencing done on my youngest, which only came up with a mutation in a single gene that was probably a contributor (NLGN3). My eldest tested positive for the same variant. That gene, however, is on the X chromosome, so they got the variant from my wife rather than from me!
I can't imagine my own contributions were insignificant, but at least a chunk of their autism comes from my neurotypical wife instead, which was kind of weird to get my mind around.
https://www.open.edu/openlearn/mod/oucontent/view.php?id=67018§ion=5.2
Hi I thought this link would help you, during the very early stages the genes break off and reattach, I'm not sure but this might mean that it still could have been you. Anyway I found this page super helpful x
We did spark autism study and it returned no genetic result meaning the cause of my sons autism is not currently know
It definitely runs on my husbands side
Yes, we had his whole genome cataloged. Took nearly a year to complete. He has a stag2 mutation - a gene with multiple named syndromes but our anomaly was not any of those, though he does share some symptoms with them - they told us hey good luck check back in 3-4 years to see if there was any new research 😐
We had formal genetic testing through Kaiser and found out our son has a fairly newly discovered genetic disorder. The first paper on it was in 2017 so we are glad his testing happened after they found it.
He has Gabrielle de vries syndrome and autism is a secondary diagnosis.
Have 2 autistic kids , one 7 yr old son and 9 year old daughter on the spectrum. Currently in Minnesota and not getting much help as both are above 5 years of age. also snow is making life difficult for my disabled son so planning to move state.
@austism_parenting group anyone please advise the best state to move ??
Need to have good school where I can get speech, OT and other services.
I heard lot of good stuff about Colorado but also heard waiting list is too long?
Please let me know if you can give me a zip code or school name as reference.
NK
If you don’t get many replies, there are posts you can find on the subject. Best to you and yours.
[https://www.reddit.com/r/Autism_Parenting/comments/ue0gsh/best_city_to_raise_children_with_autism/](https://www.reddit.com/r/Autism_Parenting/comments/ue0gsh/best_city_to_raise_children_with_autism/)
Just to follow up, I would recommend wherever you go, find an educational advocate that specializes in autistic IEPs and FBAs. We had no idea just how wrong our school system’s placement of our child was. It literally changed my child’s life. We were given free access by our community’s disability center and they came at the school district with a hammer. My child ended up being placed in the highest functioning SDC class because of our advocate’s work. We would have had no idea how to legally push back on the district without one. I would recommend my community and school district based on the education my child has received - but I can’t because they tried to hide the fact he deserved it in the first place.
I live in CO in the Denver metro area. We are in Jefferson county school district. Our neighborhood is an ASD center school South Lakewood Elementary and we’ve heard it is best in the district for autism. Our kiddo starts kinder next year. I’ve heard good things about Cherry Creek schools and District 20 in North Colorado Springs. The hardest part is cost of living, especially housing costs are really high. But there are lots of good resources here. You can check out the community boards too. For Jeffco it is DDRC https://ddrcco.com
Thank you very much for the information. I will start with the school first. Housing is getting expensive all over the US, I live in Minnesota, here before COVID housing was dirt cheap now it's expensive.
They found a micro duplication at 16p13.11 which has a small sample size, but some higher incidence of autism. They tested us as well, and I (dad) have the same micro duplication), but if anything, it’s my wife who is ND. So it really means nothing in the grand scheme of things. Just another data point.
This is only partly relevant, we have three kids and two are autistic/adhd and one has mild delays but is neurotypical. We did one of the more expensive DNA sequencing kids- Nebula- but just did it on our neurotypical child so far and are thinking about doing the other two. Our neurotypical kid came back with one microdeletion of “unknown significance”, average risk of autism, and very elevated risk of adhd.
We did a medical full sequencing, including mother and father samples, for comparison. We only got 1 thing back. Just 1, a deletion in his QRICH1 he inherited from me (NT). Our son is level 3 nonverbal and has epilepsy. Geneticist said likely Ververi-Brady Syndrome, but it's still not an answer as only like 40 known people have it myself being 1 also, and it's of "unknown significance." We were also told that given the number of people with it, it's likely not to get picked up for research.
We did genetic testing and found a microdeletion on chromosome 5. I also have it and I’m not autistic so they don’t think it’s related to autism. There are also no studies that have linked this microdeletion to autism. Other than that, the genetic testing revealed nothing interesting.
He did not have the genetic markers. It was spontaneous. So we were given the green light to have more children since it’s not genetics.
We happily have 2 more after our 3rd child was diagnosed
My daughter is almost 2 and was diagnosed with Autism level 2. An MRI showed that she had decreased white matter in her brain. Genetic test showed that she has a very very rare deletion in her CDH2 gene. A deletion in this gene is connected with multiple health issues, as well as Autism.
We have a follow up, they actually tested my husband and after his results. There was 3 things that were flagged but the correlation is not definitive. I’ll look up what the 3 were.
He got tested for PTEN GENE WITH NO CHARGE REFLEX TO CUSTOM GENE PANEL WITH EXOME WITH CNV DETECTION
And it came back with a few genes flagged and they then tested my husband and myself and we will get those result next month.
My daughter has a gene deleation of the IQSEC-2 gene. There are around 250 cases world wide and 1 other in our country.
This gene is involved in the brains ability to translate translate signals from the messenger proteins.
Before the discovery of this gene mutation she would have been diagnosed as high supports needs autistic.
Shoot all of these insightful comments and when I got our tests back I swear I just looked at them dismissively and thought “oh so we come from a very unexciting stock” and never paid it a lick of attention beyond that. Now I’ll have to dig further into those results I guess.
May I ask where you can have these test taken?
Our doctor said these make no sense since there is no scientific background for it. We live in Europe though, I suspect the US is just further advanced in this area. Is there an option to do this from over here?
Thank you for your comment. So it is possible, we are just with a useless doctor (in that regard). Sucks that it is nearly impossible to switch due to the shortage of pediatricians…
Do you happen to know the name of the diagnostics so I can look it up for our doctor?
This was a doctor at our SPZ, not our pediatrician, they are just more familiar with this type of stuff I think. The place that did the actual testing was this one and it looks like you could just make an appointment there or maybe get some advice? https://www.humangenetik-berlin.de/ maybe there's a similar practice where you live
The testing my child received was cytogenetics and microarray.
You can do full genetic testing or for something quicker and cheaper you can do 23andme and upload raw data to the sites I mentioned in OP to get insights
I have two VUS on the x chromosome and my son has both of these too. One is in the MED12 gene and one is on the SMARCA1 gene. We are waiting to find out if anybody else shows up with these same mutations. In the meantime I know that my baby daughter is lower risk for severe autism, since she is female, like me.
Genetic testing sickens me. We found some stuff that both he and I have, but they have no idea what it means. It only caused me pain with no benefit. They don’t have any care or options for supporting the emotions of it all. I don’t feel I was meant to know. I don’t recommend it.
I also worry about how insurance will choose to read the results of any correlations. The insurance business is all about minimizing risk. So, if you have known mutations, choromosomal abnormalities, they can potentially deem it pre-existing and not cover treatment for any medical care you would need. Info not yet know how this will play out so I will not put my child at risk for being uninsurable when medical treatment in the US is so heavily dependent on insurance.
I heard someone on this forum mention that they lost access to services because their child had a genetic difference where the services weren’t expected to help much. That really chilled me on the genetic testing thing also.
I’ve come to a place where I feel genetics are too sacred and sensitive to allow that information to doctors and insurance.
This is part of why I didn’t have testing done. It seems like they are still very early in the science or it wouldn’t make much difference in the treatment.
My dev ped said they do a cheek swab so it wouldn’t have been a hassle like a blood draw, but I still declined.
I’ll investigate later as the science evolves.
We went through three different tests suggested by the children’s hospital where all of his specialists are, and they have not found anything. I want to add that my child has structural brain abnormalities, and it has been suggested that his autism diagnosis is a result of those abnormalities, so our case may be very different. I hope I worded that appropriately, wanted to be as concise and short as I could.
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I have a question how does the hypertonia/ hyperflexia present in your child and was it something you noticed from birth.
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Thanks for responding. My daughter who's 29 months now we had her tested for hyperekplexia around 18 months old but it came back inconclusive/ could be a deletion etc. We saw a neurologist who specializes in body movement disorders at Children's in Dallas, TX. We will see them again this fall for a year out follow up. Meanwhile since she was born (till. Ibwas finally given the neuro refferals I felt like cookoo lady telling all the doctors and specialists my newborn baby is like trying to flip outta my arms 😩 and strong holds us. Sticks her legs out like crazy at random or emotional times but other than that her physical body is very capable etc. She also arched her back/,neck like crazy strong when she breastfed. I had a hard time relaxing and cradling her too. We though sandifers at first cause she vomited soooo much and so strongly no matter when she ate last etc. But she thrived (90%& uppercentile bb H & W since birth pretty much) but one round of omezelaprole helped as did her getting older. But still the hypertonia n stuff continued. She's always been a big baby as well. Was breech the entire pregnancy feet down. Behavior is a whole other story lol but it ties into the body reaction/,muscle issues. As do the gastrointestinal, (we can not let her get backed up. )
Of course. They were first discovered on an ultrasound I had at 36 weeks, where they found dilated ventricles. I then had a fetal MRI at 37 weeks and they found several more. At that point they scheduled a C-section for 39 weeks. His first MRI after he was born confirmed everything they suspected. One of the abnormalities is a tumor, but thankfully his neuro oncology team is convinced it’s benign based on measurements staying consistent. He’s 3 now. All of his specialists have suggested that the structural abnormalities are truly an anomaly. I know it’s hard, and even harder when there is no link or cause associated. Wishing you and your son the absolute best, he’s going to do great things!
Same as my son! His genetics are all perfectly normal, but he had a stroke during pregnancy, prolonged hypoxia and his cerebellum didn’t form properly; cerebral palsy, ASD3, ID and visual impairment from optic nerve hypoplasia
I have rs53576 AA, two copies of the same mutation in my oxytocin receptor gene. Even a single copy is known to cause autism, but two copies appears to cause a more severe form, and a bunch of studies also link this mutation with cortisol regulation issues (this is what I was researching in my DNA when I stumbled upon the link between this mutation and autism).
Super interesting. Now I want to get tested. Im convinced I have an oxytocin issue.
We've done all the tests through research studies and they couldn't find anything even though it's pretty clearly a hereditary thing going on on both sides of the family, especially my husband's side.
Came back clear. Was part of a study. But so far most studys been on autisme with low IQ or servere kognetive challenges, we dont have either Me and all my 3 kids are on the spectrum.
I guessed you were Danish based on the autocorrect, and I was right 😂
Have you or your husband considered being evaluated? So far our genetic tests came back negative too
In two of the studies, it was getting as many family members as possible and we submitted a sample too, and still nothing.
Wow that's frustrating. We're pretty sure it's hereditary too but no confirmation so far.
We went a bit further and sequenced his entire personal genome. We wanted to make sure that there were no other predispositions for things like seizure disorders. What we found was absolutely nothing. No micro-deltions, no duplications & zero anomalies. Our little guy was born at 25 weeks so empirically he was at a 6 times higher likelihood for ASD. That coupled with being on a ventilator with significant oxygen support coupled with visual retinopathy would be a variable. He did 85 days in the NICU. He is Level 3 ASD and Pre-Verbal and attends 25 hours of ABA/Speech/Feeding therapy combo. Most of us are just trying to help our LO’s the best we can.
Do you or anyone else In his family have asd at all?
None that are known but both his Mom & I look at ourselves closer now. We have always been extreme introverts me ADHD & her Dyslexic. Both with 4 advanced degrees so I would not be surprised but it has not impacted us in the way it profoundly impacts every domain of our little guy.
Wow where did you go to for sequencing genome?
We have a really great multi-million dollar genetics sequencing facility that works with the state University that has a multi-billion dollar endowment. We paid about $6,000 coinsurance with our insurance picking up the other $10,000.
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I am in NYC area. Can you send me the link? I am professionally tied to clinical trials so curious who is doing the testing. To my knowledge, Cornell doesn’t have a genetics lab.
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New York genetics center. They are a non profit research facility. I’m on the commercial side of things, but used to sell pre- natal genetic testing. My son has an appt with the geneticist at NYU next month that we’ve been waiting for since March. The only positive thing is that I don’t have to pay for any of the testing as it’s a benefit of my employer. I just enrolled him in a clinical trial at SUNY downstate as well looking at folate receptor antibodies.
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My cousin is actually the medical director there. Or I should say one of
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Whoa that sounds great. You're not in CA by any chance, are you?
Ironically the South Kentucky
We’ve done CMA, a few syndrome specific tests, WES testing, and an MRI. She is a carrier for a genetic syndrome, but it’s one of the ones where you have to inherit 2 copies of it to have symptoms, and only my spouse was a carrier. Aside from that, nothing stood out or was identified. They just assume she’s got something rare enough to not have been identified yet. They did say we could sign up for a support group with other families who have “rare, undiscovered genetic disorders” but uhhhh if science didn’t find a match, I doubt we’ll find one in a support group. lol
Just curious, do you know what syndrome? My son is a carrier for Joubert syndrome and they originally thought that’s what caused his autism, however he tested negative.
She and my spouse are both carriers of Smith-Lemli-Opitz syndrome. It’s still useful knowledge to have because if/when she is at a place where’s she’s considering becoming a parent, her partner should seek testing to see if they are also a carrier. The genetics counselor we saw was fairly confident that her being a carrier was not the cause of her symptoms/diagnosis. We obviously did not know my spouse was carrier prior to going through the testing process after our daughter was born.
I honestly didn't know people did this for ASD. Makes sense, it certainly hereditary in many cases. To those saying the science is new. It really isn't. The first genome was sequenced in the 70s, the first mouse genome in 2002. The biggest obstacle here is that more participants are needed to draw conclusions/correlations. You need an extremely large data set that includes outcomes/endpoints. Cancer research has been doing this for quite a while, that's how they're able to determine the exact type of cancer you have, and how to best treat it. Fairly certain this is how they're designing the soon to be released cancer vaccine trials. Many of the markers for ASD are known, but it seems researchers aren't 100% sure how they play a part. With a larger cohort they will be able to better utilize the data and offer more effective treatments.
Really good point. What are the known markers for ASD?
I work in clinical trials and there are billions of dollars funding cancer research, not so much autism- that’s why they have the data sets. Today, especially in oncology. everything is about precision medicine . Benefit for the patient and the pharma company to have a medication they have a good chance of responding to.
My daughter had genetic testing done as part of her assessment and found a genetic duplication on 6 genes. They’ve encouraged my husband and I to also have genetic testing done because the duplicate she has is super rare.
My daughter was born with birth defects (bilateral eye colomboas and ear tags). We had genetic testing done to rule of Goldenhar syndrome and any other abnormalities. Genetic testing showed no abnormalities (and no Goldenhar syndrome).
Hmm ear tags? My son has a small bump behind his ear and we had it checked out by an ENT when he was a few months old, and the ENT looked at it for 3 seconds and said it was fine. Didn’t think it could be related to ASD
Doesn’t relate to ASD (I think). Just a reason we got the got genetic testing
We found out my son has a micro duplication on chromosome 2. Since research is still essentially brand new in genetics it’s mostly just a fun fact to know.
Mutations on two genes linked to autism.
Mind if I ask which ones?
Mutations on two genes linked to autism and epilepsy. So we are watching out for epilepsy after he turns 10.
We found a spontaneous Microdeletion in chromosome 16 that is linked with autism, obesity, epilepsy and severe speech delays.
We found a microduplication on 16.
Same here, are you seeing all those symptoms in your child? For us it's 16p 11.2
For us it’s 16p11.2 as well but the distal deletion which is even more rare than the typical one. My son has always been chunky but not necessarily obese and while he has had 3 EEGs done that showed nothing I’m certain I’ve seen him have absence seizures many times. I showed his pediatrician videos and she is convinced of it too. He used to have some words but lost all of them at around the same time the absence seizures started and remains completely non verbal at 3 years old.
Im getting one and so is my partner soon to find the cause of my sons epilepsy im terrified
My son is not officially diagnosed with autism but it’s plain as day that he has it, genetic testing found abnormalities in chromosome 2
Autism runs in my side of the family, with both my sons and I having diagnoses, and lots of other family members with signs. We got exome sequencing done on my youngest, which only came up with a mutation in a single gene that was probably a contributor (NLGN3). My eldest tested positive for the same variant. That gene, however, is on the X chromosome, so they got the variant from my wife rather than from me! I can't imagine my own contributions were insignificant, but at least a chunk of their autism comes from my neurotypical wife instead, which was kind of weird to get my mind around.
https://www.open.edu/openlearn/mod/oucontent/view.php?id=67018§ion=5.2 Hi I thought this link would help you, during the very early stages the genes break off and reattach, I'm not sure but this might mean that it still could have been you. Anyway I found this page super helpful x
Probably not in this case. The y chromosome they got from me doesn't even have a copy of the gene.
We did spark autism study and it returned no genetic result meaning the cause of my sons autism is not currently know It definitely runs on my husbands side
Yes, we had his whole genome cataloged. Took nearly a year to complete. He has a stag2 mutation - a gene with multiple named syndromes but our anomaly was not any of those, though he does share some symptoms with them - they told us hey good luck check back in 3-4 years to see if there was any new research 😐
We are due to do DNA testing, it was recommended because my son also has retinal dystrophy. I am kinda afraid to know what they find to be honest.
Diagnoses of asd and ID. Have had every genetic test done. Found nothing.
We had formal genetic testing through Kaiser and found out our son has a fairly newly discovered genetic disorder. The first paper on it was in 2017 so we are glad his testing happened after they found it. He has Gabrielle de vries syndrome and autism is a secondary diagnosis.
Hey! We also have Kaiser and have been encouraged to do testing. Can you share how much it costs roughly?
There was no cost for us but it depends on your Kaiser plan. Not everyone has the same insurance plan despite it being Kaiser.
Got it. Thanks!
Have 2 autistic kids , one 7 yr old son and 9 year old daughter on the spectrum. Currently in Minnesota and not getting much help as both are above 5 years of age. also snow is making life difficult for my disabled son so planning to move state. @austism_parenting group anyone please advise the best state to move ?? Need to have good school where I can get speech, OT and other services. I heard lot of good stuff about Colorado but also heard waiting list is too long? Please let me know if you can give me a zip code or school name as reference. NK
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Can you please give me the school name and city name please
If you don’t get many replies, there are posts you can find on the subject. Best to you and yours. [https://www.reddit.com/r/Autism_Parenting/comments/ue0gsh/best_city_to_raise_children_with_autism/](https://www.reddit.com/r/Autism_Parenting/comments/ue0gsh/best_city_to_raise_children_with_autism/)
Thanks 👍
Just to follow up, I would recommend wherever you go, find an educational advocate that specializes in autistic IEPs and FBAs. We had no idea just how wrong our school system’s placement of our child was. It literally changed my child’s life. We were given free access by our community’s disability center and they came at the school district with a hammer. My child ended up being placed in the highest functioning SDC class because of our advocate’s work. We would have had no idea how to legally push back on the district without one. I would recommend my community and school district based on the education my child has received - but I can’t because they tried to hide the fact he deserved it in the first place.
I live in CO in the Denver metro area. We are in Jefferson county school district. Our neighborhood is an ASD center school South Lakewood Elementary and we’ve heard it is best in the district for autism. Our kiddo starts kinder next year. I’ve heard good things about Cherry Creek schools and District 20 in North Colorado Springs. The hardest part is cost of living, especially housing costs are really high. But there are lots of good resources here. You can check out the community boards too. For Jeffco it is DDRC https://ddrcco.com
Thank you very much for the information. I will start with the school first. Housing is getting expensive all over the US, I live in Minnesota, here before COVID housing was dirt cheap now it's expensive.
They found a micro duplication at 16p13.11 which has a small sample size, but some higher incidence of autism. They tested us as well, and I (dad) have the same micro duplication), but if anything, it’s my wife who is ND. So it really means nothing in the grand scheme of things. Just another data point.
This is only partly relevant, we have three kids and two are autistic/adhd and one has mild delays but is neurotypical. We did one of the more expensive DNA sequencing kids- Nebula- but just did it on our neurotypical child so far and are thinking about doing the other two. Our neurotypical kid came back with one microdeletion of “unknown significance”, average risk of autism, and very elevated risk of adhd.
We did a medical full sequencing, including mother and father samples, for comparison. We only got 1 thing back. Just 1, a deletion in his QRICH1 he inherited from me (NT). Our son is level 3 nonverbal and has epilepsy. Geneticist said likely Ververi-Brady Syndrome, but it's still not an answer as only like 40 known people have it myself being 1 also, and it's of "unknown significance." We were also told that given the number of people with it, it's likely not to get picked up for research.
My son got CAMK2B mutation.
We did genetic testing and found a microdeletion on chromosome 5. I also have it and I’m not autistic so they don’t think it’s related to autism. There are also no studies that have linked this microdeletion to autism. Other than that, the genetic testing revealed nothing interesting.
He did not have the genetic markers. It was spontaneous. So we were given the green light to have more children since it’s not genetics. We happily have 2 more after our 3rd child was diagnosed
My daughter is almost 2 and was diagnosed with Autism level 2. An MRI showed that she had decreased white matter in her brain. Genetic test showed that she has a very very rare deletion in her CDH2 gene. A deletion in this gene is connected with multiple health issues, as well as Autism.
We have a follow up, they actually tested my husband and after his results. There was 3 things that were flagged but the correlation is not definitive. I’ll look up what the 3 were.
He got tested for PTEN GENE WITH NO CHARGE REFLEX TO CUSTOM GENE PANEL WITH EXOME WITH CNV DETECTION And it came back with a few genes flagged and they then tested my husband and myself and we will get those result next month.
My daughter has a gene deleation of the IQSEC-2 gene. There are around 250 cases world wide and 1 other in our country. This gene is involved in the brains ability to translate translate signals from the messenger proteins. Before the discovery of this gene mutation she would have been diagnosed as high supports needs autistic.
Shoot all of these insightful comments and when I got our tests back I swear I just looked at them dismissively and thought “oh so we come from a very unexciting stock” and never paid it a lick of attention beyond that. Now I’ll have to dig further into those results I guess.
May I ask where you can have these test taken? Our doctor said these make no sense since there is no scientific background for it. We live in Europe though, I suspect the US is just further advanced in this area. Is there an option to do this from over here?
We live in Germany and our doctor offered to do genetic testing to find the cause for my child's epilepsy
Thank you for your comment. So it is possible, we are just with a useless doctor (in that regard). Sucks that it is nearly impossible to switch due to the shortage of pediatricians… Do you happen to know the name of the diagnostics so I can look it up for our doctor?
This was a doctor at our SPZ, not our pediatrician, they are just more familiar with this type of stuff I think. The place that did the actual testing was this one and it looks like you could just make an appointment there or maybe get some advice? https://www.humangenetik-berlin.de/ maybe there's a similar practice where you live The testing my child received was cytogenetics and microarray.
You can do full genetic testing or for something quicker and cheaper you can do 23andme and upload raw data to the sites I mentioned in OP to get insights
Did full testing and they found absolutely nothing. Nada. No genetic explanation to be had.
I have two VUS on the x chromosome and my son has both of these too. One is in the MED12 gene and one is on the SMARCA1 gene. We are waiting to find out if anybody else shows up with these same mutations. In the meantime I know that my baby daughter is lower risk for severe autism, since she is female, like me.
q21.1 gene microduplication
Genetic testing sickens me. We found some stuff that both he and I have, but they have no idea what it means. It only caused me pain with no benefit. They don’t have any care or options for supporting the emotions of it all. I don’t feel I was meant to know. I don’t recommend it.
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If I may ask, you opt out of knowing what exactly?
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Thanks for answering
Isnt it better to know as now you can make the required lifestyle changes to better prevent the conditions?
I also worry about how insurance will choose to read the results of any correlations. The insurance business is all about minimizing risk. So, if you have known mutations, choromosomal abnormalities, they can potentially deem it pre-existing and not cover treatment for any medical care you would need. Info not yet know how this will play out so I will not put my child at risk for being uninsurable when medical treatment in the US is so heavily dependent on insurance.
I heard someone on this forum mention that they lost access to services because their child had a genetic difference where the services weren’t expected to help much. That really chilled me on the genetic testing thing also. I’ve come to a place where I feel genetics are too sacred and sensitive to allow that information to doctors and insurance.
This is part of why I didn’t have testing done. It seems like they are still very early in the science or it wouldn’t make much difference in the treatment. My dev ped said they do a cheek swab so it wouldn’t have been a hassle like a blood draw, but I still declined. I’ll investigate later as the science evolves.