Crimson Wife Posted September 6, 2017 Share Posted September 6, 2017 So it turns out that I *WASN'T* crazy all these years questioning the High-Functioning Autism diagnosis and seeking out specialist after specialist for my youngest. All those experts were indeed like the blind men with the elephant. I'm not some attention-wh*re Munchausen-by-Proxy nutjob . Getting the Whole Exome Sequencing done was not an expensive "fishing expedition" after all. She has a mutation in the ASXL3 gene associated with a rare neurological disorder called Bainbridge-Roper Syndrome. It was only discovered in 2013 so not much is known about it and unfortunately there are no treatments. It is on a completely different chromosome from the mutation causing the hearing loss so there is no reason to believe they are related in any way. Just a really s*cky coincidence that she has two rare genetic conditions :( 13 Quote Link to comment Share on other sites More sharing options...
maize Posted September 6, 2017 Share Posted September 6, 2017 Wow Crimson! That is quite the discovery. I wonder how many other kids with this mutation are walking around with an autism diagnosis? And yes, mommy's gut instincts deserve to be listened to! 1 Quote Link to comment Share on other sites More sharing options...
Heathermomster Posted September 6, 2017 Share Posted September 6, 2017 Glad you have more answers. Quote Link to comment Share on other sites More sharing options...
prairiewindmomma Posted September 6, 2017 Share Posted September 6, 2017 D-n that sucks about the genetics. I'm glad you have more answers that help you put together the puzzle. Good on you for fighting all of these years to get more accurate diagnoses. Quote Link to comment Share on other sites More sharing options...
Lecka Posted September 6, 2017 Share Posted September 6, 2017 (edited) Wow, crazy! I hope you can get a community of other families with the same mutation, it seems like that can be so helpful!!!! Edited September 6, 2017 by Lecka Quote Link to comment Share on other sites More sharing options...
OneStepAtATime Posted September 6, 2017 Share Posted September 6, 2017 Kuddos to you for finding some solid answers even if it doesn't net a solution. And yeah, trusting gut instinct can sometimes be the only reliable thing we have. Thanks for the update. 2 Quote Link to comment Share on other sites More sharing options...
Guest Posted September 6, 2017 Share Posted September 6, 2017 Leave it to a determined mama to get to the bottom of things. Way to go! Quote Link to comment Share on other sites More sharing options...
imagine.more Posted September 6, 2017 Share Posted September 6, 2017 Wow, good for you pushing for more testing to get the full picture and a correct diagnosis! I wish doctors listened to mothers more, they usually know when something is wrong. So will this give you a clearer direction in treatment or expectations for her? Does this negate the high functioning autism diagnosis or simply explain the root cause? 1 Quote Link to comment Share on other sites More sharing options...
Crimson Wife Posted September 6, 2017 Author Share Posted September 6, 2017 Wow, good for you pushing for more testing to get the full picture and a correct diagnosis! I wish doctors listened to mothers more, they usually know when something is wrong. So will this give you a clearer direction in treatment or expectations for her? Does this negate the high functioning autism diagnosis or simply explain the root cause? It is considered a "genetic change associated with developmental delay and features of autism". Her symptoms meet both the DSM-IV criteria for "classic" autism and the DSM-V criteria for ASD (probably level 1 at this point but perhaps level 2 due to the speech & language delay). But it also explains symptoms that are not part of the diagnostic criteria for ASD. Things like the hypotonia, failure-to-thrive, sleep problems, distinctive facial features, and the discrepancy between the verbal and non-verbal IQ. Most kids with this particular syndrome have ID but if they've got receptive language disorder, standard IQ tests may be too verbally-loaded even in their "nonverbal" sections to give an accurate estimate. The difference between the "nonverbal" portion of the standard Weschler IQ test and the totally non-verbal Leiter was 2 standard deviations for my daughter. That's the difference between mild ID and average in a kid who is starting from an underlying IQ that is in the average range. So without going back and re-testing all these kids with the Leiter or some other totally non-verbal IQ test, there is no way of knowing whether the ID label is accurate. And in terms of "real world" functioning, the language challenges mean that they are going to need a lot of the same accommodations as someone with ID. 2 Quote Link to comment Share on other sites More sharing options...
Crimson Wife Posted September 6, 2017 Author Share Posted September 6, 2017 In terms of what treatment avenues this might open up, one mom I've come across saw positive results including mental functioning improvements from growth hormone. So I've got a call into the general pediatrician looking for a referral to someone who can do a bone age X-ray. I guess that can tell us whether DD is actually "young" for her chronological age as she seems to be. She didn't lose her first baby tooth until after her 8th birthday, while her siblings started to lose them at 5-6. The biggest thing for me is that we actually have an answer for what is going on and because it is almost certainly a spontaneous mutation rather than inherited (DH and I will need testing to make sure), that means any future biological children we might decide to have are at no greater risk for autism than the general public. 8 Quote Link to comment Share on other sites More sharing options...
Innisfree Posted September 6, 2017 Share Posted September 6, 2017 What a good thing you kept pushing for answers. Way to go! It sounds like you may end up with some very useful information. Quote Link to comment Share on other sites More sharing options...
Storygirl Posted September 7, 2017 Share Posted September 7, 2017 I'm so glad you got the testing and learned the diagnosis. Though I'm sorry that it's not better news. :grouphug: Quote Link to comment Share on other sites More sharing options...
PinkyandtheBrains. Posted September 7, 2017 Share Posted September 7, 2017 We did bone age X-rays through our GP. Quote Link to comment Share on other sites More sharing options...
Ottakee Posted September 7, 2017 Share Posted September 7, 2017 Wow Crimson! That is quite the discovery. I wonder how many other kids with this mutation are walking around with an autism diagnosis? And yes, mommy's gut instincts deserve to be listened to! My girls have a combo of 3 rare mitochondrial myopathies. Their neurologist said that they are discovering more and more mito issues that are causing autism/spectrum issues. Not all, but some. 6 of the 7 known siblings have spectrumish issues. 2 Quote Link to comment Share on other sites More sharing options...
Crimson Wife Posted September 7, 2017 Author Share Posted September 7, 2017 Despite having some symptoms that would be consistent with a mito disorder (the hypotonia, low plasma carnitine when she was younger, responding to Coenzyme Q10), the mitochondrial sequencing came back negative for any known problematic variants. Both of her bad genes are on chromosomes in the nucleus. The hearing loss one is most likely inherited, though we won't know for sure until DH and I are tested. The one causing this neurological syndrome is most likely de novo. 2 Quote Link to comment Share on other sites More sharing options...
wapiti Posted September 7, 2017 Share Posted September 7, 2017 In terms of what treatment avenues this might open up, one mom I've come across saw positive results including mental functioning improvements from growth hormone. So I've got a call into the general pediatrician looking for a referral to someone who can do a bone age X-ray. Fascinating stuff! The ped could order the bone age x-ray themselves if they feel like it. A ped endocrinologist would be the usual prescriber for growth hormone. Quote Link to comment Share on other sites More sharing options...
Ottakee Posted September 7, 2017 Share Posted September 7, 2017 Despite having some symptoms that would be consistent with a mito disorder (the hypotonia, low plasma carnitine when she was younger, responding to Coenzyme Q10), the mitochondrial sequencing came back negative for any known problematic variants. Both of her bad genes are on chromosomes in the nucleus. The hearing loss one is most likely inherited, though we won't know for sure until DH and I are tested. The one causing this neurological syndrome is most likely de novo. It is just so interesting how they are finding more and more genetic things for some autism and other conditions that previously (sometimes years ago, others more recently) we're blamed on poor parenting, etc. 3 Quote Link to comment Share on other sites More sharing options...
Soror Posted September 7, 2017 Share Posted September 7, 2017 Glad you are finally getting some answers. I think the study of genetics is so fascinating, there is so much that we do not understand. It makes me curious about the rise in diagnosis for Autism, how much are due to mutations? Has there been an increase in mutations and if so, why? Quote Link to comment Share on other sites More sharing options...
heartlikealion Posted September 7, 2017 Share Posted September 7, 2017 Wow Glad you have explanations for some of the other things. Stinks it took so much to get answers. Quote Link to comment Share on other sites More sharing options...
Crimson Wife Posted September 7, 2017 Author Share Posted September 7, 2017 Glad you are finally getting some answers. I think the study of genetics is so fascinating, there is so much that we do not understand. It makes me curious about the rise in diagnosis for Autism, how much are due to mutations? Has there been an increase in mutations and if so, why? She is our youngest and the only one of our kids to be born in our 30's. The risk of mutations rises with age and people these days are waiting longer to become parents. We couldn't have had our 3rd any younger than we did because of life circumstances. But I'm sure the risk would've been lower if I had. 2 Quote Link to comment Share on other sites More sharing options...
prairiewindmomma Posted September 7, 2017 Share Posted September 7, 2017 Our ped did our referral for a bone age scan. We showed up at a walk-in imaging center that accepted our insurance, and we had results an hour later. It was one of the easiest things we've done, as far as imaging goes. 1 Quote Link to comment Share on other sites More sharing options...
PeterPan Posted September 7, 2017 Share Posted September 7, 2017 She is our youngest and the only one of our kids to be born in our 30's. The risk of mutations rises with age and people these days are waiting longer to become parents. We couldn't have had our 3rd any younger than we did because of life circumstances. But I'm sure the risk would've been lower if I had. I don't know if you're feeling any Mom Guilt. I had that, wondering if I had caused ds' apraxia. I've wondered if it's ok to have more kids knowing it could happen (or even be more severe), etc. It makes me go back in my mind to this talk Rachel Coleman did. I watched it years ago when I first found out about ds' apraxia, but I think about it every so often. It's really minutes 9-11 that are the point. She explains about finding out their diagnosis and then having this epiphany that, in the mind of her child, nothing was wrong. And I guess we could say well autism is worse, BR is worse, something IS wrong. Fine. But it has always sounded like your dc is happy. Like maybe in her world, still nothing is wrong. She doesn't regret her existence, kwim? Quote Link to comment Share on other sites More sharing options...
kbutton Posted September 7, 2017 Share Posted September 7, 2017 Wow! I am glad you have more information and that it sounds like it will not take away a diagnosis that is allowing her to receive services. I tried to find an incidence rate, but it appears that it's not even in all the rare disease databases. That's wild. The one figure I found (Prevalence: <1/1000000 (Worldwide) ) was listed under a feeding issue specific to that mutation. Not sure that covers the whole prevalence rate. Go, mama gut! Quote Link to comment Share on other sites More sharing options...
Crimson Wife Posted September 8, 2017 Author Share Posted September 8, 2017 In the Simons Variations in Individuals Project study database, there are 17 individuals with it registered. In the Facebook group I now belong to, there are 37 (presumably overlapping quite a bit with the Simons VIP group). But the true incidence can't be known since whole exome sequencing is necessary for diagnosis. Presumably for each child with a definitive diagnosis through WES, there are way more walking around with a diagnosis of autism or Global Developmental Delay or ID or what have you. Until such time as whole exome sequencing becomes a routine part of developmental pediatrics evals, the true incidence cannot be known. 3 Quote Link to comment Share on other sites More sharing options...
heartlikealion Posted September 8, 2017 Share Posted September 8, 2017 (edited) She is our youngest and the only one of our kids to be born in our 30's. The risk of mutations rises with age and people these days are waiting longer to become parents. We couldn't have had our 3rd any younger than we did because of life circumstances. But I'm sure the risk would've been lower if I had. Pssh. There's no telling. I don't think ds is neurotypical and I had him in my 20s. We think dd is neurotypical and I had her in my 30s. I learned from someone recently there is a term "neuro diverse"? or something some people prefer to use but I have only heard that once so far. Edited September 8, 2017 by heartlikealion Quote Link to comment Share on other sites More sharing options...
heartlikealion Posted September 8, 2017 Share Posted September 8, 2017 Just to clarify, I didn't mean to sound completely dismissive of feelings or data. Just saying we never know. And I didn't mean to seem insensitive talking about NT in an example where this thread is really about a mutation which I'm sure after further thought probably has its own set of data for likelihood. Quote Link to comment Share on other sites More sharing options...
8filltheheart Posted September 9, 2017 Share Posted September 9, 2017 (edited) Just to clarify, I didn't mean to sound completely dismissive of feelings or data. Just saying we never know. And I didn't mean to seem insensitive talking about NT in an example where this thread is really about a mutation which I'm sure after further thought probably has its own set of data for likelihood. I was thinking the same thing as your OP. My ds was born when I was 25. I have had kids all the way into my mid-40s. He is the only one of the 8 with issues. I have often wondered if it is bc we had him so close to his baby sister who died. (she was full-term.) There were only 7 weeks between my pregnancies. Edited September 9, 2017 by 8FillTheHeart Quote Link to comment Share on other sites More sharing options...
MeaganS Posted September 9, 2017 Share Posted September 9, 2017 I agree with the gut instincts and I'm so glad you found an answer! A similar thing happened for me with dd9 and her autism diagnoses that I never felt was quite right. After I pushed (rather forcefully) for a bone-growth test because she was so short and our whole family is very tall, we ended up being able to figure out that she has Turners Syndrome. Which is considered rare but nowhere near what you're describing! And because we know about her Turners, she was able to have a heart screening that we never would have done otherwise and we discovered that she has silent heart issues that are very severe and will require intense surgical correction. Without surgery, she would almost certainly have died before 20yo or so. And the pediatrician said, "Some kids are just short. I'm sure its normal!" I knew it wasn't normal for us! Turners Syndrome explains all her autism symptoms plus some, like her failure to thrive, short stature, math issues, etc. I have never been more glad that I followed my mommy gut instincts. Your dd is lucky to have you battling for her. 4 Quote Link to comment Share on other sites More sharing options...
8filltheheart Posted September 9, 2017 Share Posted September 9, 2017 That is interesting, MeaganS. My niece has Turner's and I have never thought about her symptoms that mimic autism. She was diagnosed a decade before our ds and I have just always thought of her as her. Quote Link to comment Share on other sites More sharing options...
heartlikealion Posted September 9, 2017 Share Posted September 9, 2017 I was thinking the same thing as your OP. My ds was born when I was 25. I have had kids all the way into my mid-40s. He is the only one of the 8 with issues. I have often wondered if it is bc we had him so close to his baby sister who died. (she was full-term.) There were only 7 weeks between my pregnancies. :grouphug: We just never really know I guess. Quote Link to comment Share on other sites More sharing options...
desertstrawberry5 Posted September 9, 2017 Share Posted September 9, 2017 Welp, y'all have convinced me to schedule luna's screening next week. She likely has two genetic disorders, one from me, and one of her own. I've been worried about silent issues all along. The only way to know for sure is to do the test. There is a lab in Phoenix that is working with Stanford university on a grant. The test is free for us. UCLA has a similar grant. If anyone needs this (extremely expensive) test, be sure to ask around to see if there are any participating labs near you. 3 Quote Link to comment Share on other sites More sharing options...
MeaganS Posted September 9, 2017 Share Posted September 9, 2017 That is interesting, MeaganS. My niece has Turner's and I have never thought about her symptoms that mimic autism. She was diagnosed a decade before our ds and I have just always thought of her as her. Not all Turners girls do, but many do have NVLD to some degree or even autism. And girls with autism-like symptoms present differently than boys. DD does have echolalia that has changed into mostly understandable conversation but with quirks, which isn't usually a Turners thing as far as they know and the reason we have kept the autism diagnoses. It's her only unaccounted for symptom though! :) Quote Link to comment Share on other sites More sharing options...
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