Anonymous
02/10/2017 08:23
Subject: Genetic Testing- do it or not do it?
Anonymous wrote:Anonymous wrote:We didn't do it: it was going to be $4k out of pocket and I kept asking how likely it was would find something we could DO something about, and the answer seemed to be that it was extremely unlikely--that regardless we'd do the same therapies, etc.
Thats what I was initially wondering about. He has an IEP, he gets speech and OT. What more would be done from these results? But I guess it sounds like if there was new info revealed, it can help with expectations and more understanding of things.
We were told not much but the poster above had a really good point about going to a specialist over a developmental ped for the genetic testing. If you do not know family history or there is a specific concern, I'd be more inclined to do it. Ours was fully covered by insurance but I don't think I'd pay 4K (which is what they told me it would cost when they encouraged me to do it) in less there were medical or other issues.
Anonymous
02/10/2017 08:13
Subject: Genetic Testing- do it or not do it?
OP, I'm a mom whose child has a rare genetic disorder that affects language and has many other physical manifestations.
I think there is a step missing here between on the one hand "just doing therapies" (which is a heck of a lot as you know!) and getting genetic testing. That step is a visit with a great neurogeneticist, who will examine your child and talk to you about what you observe and his developmental pediatrician's report and his functioning. Then that neurogeneticist can tell you whether he/she recommends genetic testing and what type. There are many, many kinds of genetic testing.
I personally love our neurogeneticist at Kennedy Krieger but there are some great ones at CNMC as well.
Neurogeneticists are trained to see subtle physical features of genetic issues in your child's face, lips, hands, his profile, his feet, his voice, his bowel movements. He may know which tests to order just by seeing your child. Or not recommend anything at all, or wait five years.
I think you should consider this because adding data to your child's current profile always is helpful. And I can tell you that even if it doesn't change your child's current therapies to know that your child has a genetic disorder (it doesn't for my child) gene therapies are being developed right now at an astounding rate. Your child could potentially benefit in the next few years even if he can't now.
I think there is a step missing here between on the one hand "just doing therapies" (which is a heck of a lot as you know!) and getting genetic testing. That step is a visit with a great neurogeneticist, who will examine your child and talk to you about what you observe and his developmental pediatrician's report and his functioning. Then that neurogeneticist can tell you whether he/she recommends genetic testing and what type. There are many, many kinds of genetic testing.
I personally love our neurogeneticist at Kennedy Krieger but there are some great ones at CNMC as well.
Neurogeneticists are trained to see subtle physical features of genetic issues in your child's face, lips, hands, his profile, his feet, his voice, his bowel movements. He may know which tests to order just by seeing your child. Or not recommend anything at all, or wait five years.
I think you should consider this because adding data to your child's current profile always is helpful. And I can tell you that even if it doesn't change your child's current therapies to know that your child has a genetic disorder (it doesn't for my child) gene therapies are being developed right now at an astounding rate. Your child could potentially benefit in the next few years even if he can't now.
Anonymous
02/10/2017 07:54
Subject: Genetic Testing- do it or not do it?
Anonymous wrote:We didn't do it: it was going to be $4k out of pocket and I kept asking how likely it was would find something we could DO something about, and the answer seemed to be that it was extremely unlikely--that regardless we'd do the same therapies, etc.
Thats what I was initially wondering about. He has an IEP, he gets speech and OT. What more would be done from these results? But I guess it sounds like if there was new info revealed, it can help with expectations and more understanding of things.
Anonymous
02/10/2017 07:52
Subject: Genetic Testing- do it or not do it?
Anonymous wrote:I would wait another year in less there is something specific he was looking for. We did genetic testing and it found nothing. We did it for other reasons as well but in hindsight I would not do it again. At the time I worried if something was found and much of it is not fixable, would my child be able to get health insurance with a preexisting condition.
My child had a head injury too. I talked to a neurologist who said that it doesn't make sense to do an MRI with a young child as you have to sedate them and the risks of sedation vs. the benefit are not worth it. If there is a brain injury beyond therapies, there is not much they can do about it.
With language disorders at age 4, it can go either way. Usually by 5-6 you know much more and you can see (at least in our experience) more long term. At 4, with my child it was very difficult to know but I suspected it would get better and it did. We found 4 one of the hardest ages with language concerns as you worry about them starting school and are they going to be ok. The important thing is to do as much speech therapy as you can within reason (as well as OT or PT if needed). I would do it 3-4 times a week. We found that between 3-5, it was the most important ages for speech therapy just to give them the tools to help them when they are ready to talk. You cannot force speech but you can give them the tools and knowledge so when they can talk they can be successful.
Thanks for sharing PP. Yes the worrying and unknown at this age/stage is a lot. He can speak and has great spontaneous language but at school and in situations where he is on the spot, it takes him a while to access the words he wants to say.
Anonymous
02/10/2017 06:37
Subject: Genetic Testing- do it or not do it?
We didn't do it: it was going to be $4k out of pocket and I kept asking how likely it was would find something we could DO something about, and the answer seemed to be that it was extremely unlikely--that regardless we'd do the same therapies, etc.
Anonymous
02/09/2017 23:50
Subject: Re:Genetic Testing- do it or not do it?
Anonymous wrote:Anonymous wrote:Anonymous wrote:Anonymous wrote:Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.
If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.
So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.
Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.
Such as??
When we did it, the focus was not on genetic conditions impacting language but ones that looked similar to autism and other things specific to our situation.
I'm not buying it, PP. Most of these genetic disorders although they may affect language will have other markers like physical traits:
https://www.genome.gov/10001204/specific-genetic-disorders/
The only reliable health information source that comes up on google for 1 in 500 is this:
http://www.childrenshospital.org/conditions-and-treatments/conditions/polydactyly-of-fingers/symptoms-and-causes
My guess is that your kid is autistic and the genetic testing didn't reveal anything.
Not all kids have autism. Except the ones you consistently diagnose.
Anonymous
02/09/2017 23:20
Subject: Re:Genetic Testing- do it or not do it?
Anonymous wrote:Anonymous wrote:Anonymous wrote:Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.
If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.
So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.
Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.
Such as??
When we did it, the focus was not on genetic conditions impacting language but ones that looked similar to autism and other things specific to our situation.
I'm not buying it, PP. Most of these genetic disorders although they may affect language will have other markers like physical traits:
https://www.genome.gov/10001204/specific-genetic-disorders/
The only reliable health information source that comes up on google for 1 in 500 is this:
http://www.childrenshospital.org/conditions-and-treatments/conditions/polydactyly-of-fingers/symptoms-and-causes
My guess is that your kid is autistic and the genetic testing didn't reveal anything.
Anonymous
02/09/2017 22:58
Subject: Re:Genetic Testing- do it or not do it?
Anonymous wrote:Anonymous wrote:Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.
If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.
So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.
Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.
Such as??
When we did it, the focus was not on genetic conditions impacting language but ones that looked similar to autism and other things specific to our situation.
Anonymous
02/09/2017 22:57
Subject: Genetic Testing- do it or not do it?
I would wait another year in less there is something specific he was looking for. We did genetic testing and it found nothing. We did it for other reasons as well but in hindsight I would not do it again. At the time I worried if something was found and much of it is not fixable, would my child be able to get health insurance with a preexisting condition.
My child had a head injury too. I talked to a neurologist who said that it doesn't make sense to do an MRI with a young child as you have to sedate them and the risks of sedation vs. the benefit are not worth it. If there is a brain injury beyond therapies, there is not much they can do about it.
With language disorders at age 4, it can go either way. Usually by 5-6 you know much more and you can see (at least in our experience) more long term. At 4, with my child it was very difficult to know but I suspected it would get better and it did. We found 4 one of the hardest ages with language concerns as you worry about them starting school and are they going to be ok. The important thing is to do as much speech therapy as you can within reason (as well as OT or PT if needed). I would do it 3-4 times a week. We found that between 3-5, it was the most important ages for speech therapy just to give them the tools to help them when they are ready to talk. You cannot force speech but you can give them the tools and knowledge so when they can talk they can be successful.
My child had a head injury too. I talked to a neurologist who said that it doesn't make sense to do an MRI with a young child as you have to sedate them and the risks of sedation vs. the benefit are not worth it. If there is a brain injury beyond therapies, there is not much they can do about it.
With language disorders at age 4, it can go either way. Usually by 5-6 you know much more and you can see (at least in our experience) more long term. At 4, with my child it was very difficult to know but I suspected it would get better and it did. We found 4 one of the hardest ages with language concerns as you worry about them starting school and are they going to be ok. The important thing is to do as much speech therapy as you can within reason (as well as OT or PT if needed). I would do it 3-4 times a week. We found that between 3-5, it was the most important ages for speech therapy just to give them the tools to help them when they are ready to talk. You cannot force speech but you can give them the tools and knowledge so when they can talk they can be successful.
Anonymous
02/09/2017 22:20
Subject: Re:Genetic Testing- do it or not do it?
Anonymous wrote:Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.
If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.
So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.
Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.
Such as??
Anonymous
02/09/2017 21:54
Subject: Re:Genetic Testing- do it or not do it?
Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.
If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.
So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.
Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.
Anonymous
02/09/2017 21:41
Subject: Re:Genetic Testing- do it or not do it?
Anonymous wrote:OP -- your child is young and you are at the start of this. Some kids with this diagnosis tackle it and have a super functional life. For others, it is a symptom of a larger problem. I hope you fall in the former category but looking back I would have liked to known earlier that it is a symptom
+1 my son was diagnosed w suspected apraxia by the SLP at 2 and confirmed at 3. It was global and the OT used the term dyspraxia. So did the developmental pediatrician. The neuro ordered genetic testing but it didn't find anything. However that was 7 years ago and so many new genes have been identified. We threw every possible resource at our son and it paid off. He attended speech therapy multiple days a week for years (at one point 4-5 sessions a week). He also did OT privately. I sat in every therapy session I could and repeated what the therapists did at home between sessions. We are fortunate. He was able to attend mainstream K and was finished with speech and OT by the summer after 1st grade. At 9, he is actually quite coordinated and his speech is clear, but he does have minor issues if he is tired or sick. The only lingering problem is he has slow processing speed.
Anonymous
02/09/2017 15:22
Subject: Genetic Testing- do it or not do it?
Anonymous wrote:Anonymous wrote:Anonymous wrote:Anonymous wrote:Anonymous wrote:Dyspraxia isn't a diagnosis. It's a description of functioning.
I was told by dev ped its a diagnosis
In the DSM V - developmental coordination disorder (also known as dyspraxia). It is a diagnosis.
My teen has it. We did genetic testing - found nothing. We also did an MRI and there was an area of 'unchanging brain damage of unknown origin' that likely caused the DCD.
PP Also, how does this dx look in a teen? Does ur teen have an iep?
My teen has DCD, ADHD and Anxiety disorder.
Speech and gross/fine motor were biggest issues through elementary school (was in speech therapy for 8-9 years, OT for about 5). Speech and language were considered resolved by about age 11. My DC is not athletic and a bit clumsy but fine. Has an IEP for expressive language issues, and accommodations for the ADHD and fine motor issues (add'l time, keyboarding, calculator). But taking AP classes, has friends and is engaged in school. Takes medication for the ADHD and anxiety.
Getting a good neuropsych evaluation when DC was ~8 was really helpful. We learned both where challenges and strengths were and went from there.
Thanks for sharing. Glad to hear that your teen is doing well. Nice to hear that
Anonymous
02/09/2017 15:18
Subject: Re:Genetic Testing- do it or not do it?
Anonymous wrote:OP -- your child is young and you are at the start of this. Some kids with this diagnosis tackle it and have a super functional life. For others, it is a symptom of a larger problem. I hope you fall in the former category but looking back I would have liked to known earlier that it is a symptom
Totally makes sense. Thanks for your input.
Anonymous
02/09/2017 15:17
Subject: Re:Genetic Testing- do it or not do it?
I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.
If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.
So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.
If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.
So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.