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Mamas, Listen to Your Gut Instincts


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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 :(

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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?

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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.

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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.

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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.

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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.

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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.

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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.

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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? 

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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.

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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?

 

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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!

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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.

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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.

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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 by 8FillTheHeart
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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. 

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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.

 

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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.

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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! :)

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