Back from the neuropsych with the results

[jujsky]

DS has ADHD, combined type. No surprises there -- I fully expected that diagnosis. He also has Learning Disorder Not Otherwise Specified. NVLD is not recognized in the DSM, but in talking to the developmental pediatrician, that seems to be what he has. She can't officially call him that, but she brought up the huge difference between his Verbal IQ and Performance IQ and his difficulties with math and handwriting. He also has -- and I've never heard of this before, but after reading about it, it fits -- Developmental Coordination Disorder. The only thing that stinks is that unless insurance will cover part of the neurpsych evaluation for the Developmental Coordination Disorder, we'll have to pay for the whole thing out of pocket -- over $4,500. They're not going to cover the ADHD or LD-NOS diagnosis. On the plus side, this Developmental Coordination Disorder should justify DS's need for OT.

 

My plan is to read as much as I can before we get the written report, and then implement the modifications. If the modifications don't work well after a couple of months, we're going to try the modifications plus medication. He's a very picky eater so I don't want to modify our diets. I might try fish oil though and see if that helps at all.

 

Edited to add: I feel good about the diagnosis. Boston Children's is one of the best hospitals in the country. They said once we have the report in hand we can call them at any time with questions. The developmental pediatrician also said that we can make an appointment with the psychologist if we need a sit-down to go over his academic recommendations in the report. She did mention that the report will probably recommend that he's taught by someone with special education experience -- that was the only comment I wasn't thrilled about, but it was not unexpected. DH and I discussed it and feel that he wouldn't have done as well on his academic and IQ testing if he hadn't been homeschooled from the beginning. If anything, it reconfirmed that I'm doing the right thing for him. I think at this point it's a matter of changing up how I approach school with him, and possibly changing curriculum if we need to. Overall it was a positive experience. We're relieved that we know what's going on with him now and we're not just trying to guess.

Edited February 11, 2012 by jujsky

[courtney.byrum]

Hmm - My son was diagnosed with Developmental Coordination Disorder but no therapy was really recommended. I wonder if we should pursue that more. He basically told me to encourage him to do sports but definitely do not push him if he resists team sports, just search for a solo sport he can do instead as he will just never be that coordinated and it may bother him eventually (he was 5ish at the time I think).

 

I do see he has a harder time coordinating things like armstrokes AND kicking at the same time but he does eventually get it, it just takes much longer. So we'll see. At this stage all he's really done is soccer, swimming, and some gymnastics. I'm curious what OT was recommended to you though as we may want to pursue something for him as well.

[jujsky]

Hmm - My son was diagnosed with Developmental Coordination Disorder but no therapy was really recommended. I wonder if we should pursue that more. He basically told me to encourage him to do sports but definitely do not push him if he resists team sports, just search for a solo sport he can do instead as he will just never be that coordinated and it may bother him eventually (he was 5ish at the time I think).

 

I do see he has a harder time coordinating things like armstrokes AND kicking at the same time but he does eventually get it, it just takes much longer. So we'll see. At this stage all he's really done is soccer, swimming, and some gymnastics. I'm curious what OT was recommended to you though as we may want to pursue something for him as well.

 

It can affect small muscle coordination, large muscle coordination, or both. With DS it's both, but I think it's more small-muscle. He has weak trunk muscles -- that's what we were told when he was younger and in OT. He can't ride a bike, and has a very difficult time with team sports. Fine motor is where we see the most problems. He has a difficult time writing and always has. He can't tie his shoes. Buttons and zippers are challenging for him. His drawings are horrible -- even when I break them up step-by-step for him. If left to his own devices, he draws stick figures. I think that's why they mentioned the possibility of OT. I want him in OT anyway because DS has Sensory Processing Disorder. I know it's not a recognized diagnosis yet, but a neurologist told us he had it when he was 3 or 4. An OT eval confirmed it and he went to OT for about 2 years when he was younger (we called it a "developmental delay" instead of SPD) until DH's company switched insurance and they would no longer pay for it. He's a big-time sensory seeker, and he's been doing a lot more seeking activities lately. Now that we have a recognized diagnosis, we can hopefully get him the OT he needs. It will help with his sensory issues, and the coordination issues.

[Crimson Wife]

Keeping my fingers crossed that you will get the reimbursement. I'm surprised that ADHD wouldn't be a qualifying condition, but maybe it's diagnosed too frequently these days for the insurer to want to pay thousands of dollars per child for a NP eval. :glare:

[jujsky]

Keeping my fingers crossed that you will get the reimbursement. I'm surprised that ADHD wouldn't be a qualifying condition, but maybe it's diagnosed too frequently these days for the insurer to want to pay thousands of dollars per child for a NP eval. :glare:

 

They consider it "educational" and they won't pay for educational testing :tongue_smilie: Ridiculous since it's in the DSM and is treated with medication. They'll pay for medication if a pediatrician says he has it, but won't pay for a neuropsych to make sure it's diagnosed correctly -- even if the pediatrician recommends it and won't treat a child for ADHD without a neuropsych to confirm the diagnosis, as in our case.

[Tokyomarie]

They consider it "educational" and they won't pay for educational testing :tongue_smilie: Ridiculous since it's in the DSM and is treated with medication. They'll pay for medication if a pediatrician says he has it, but won't pay for a neuropsych to make sure it's diagnosed correctly -- even if the pediatrician recommends it and won't treat a child for ADHD without a neuropsych to confirm the diagnosis, as in our case.

 

It sounds like you're getting some good information from this eval, so it's worth it whether you get any coverage or not. However, you still want to give it your best shot to get some coverage. Make sure the claim is submitted, and if/when it is denied, contact the insurance company and ask to speak to a supervisor or case manager. Discuss the impact that your son's functioning has on your entire family's life- not just academics. When I spoke with our insurance company about how my son's difficulties affected our home life outside of academics and how unsuccessfully I had tried to handle it- for years- without help from *health* professionals, they reconsidered our claim and covered the evaluation.

 

As for the recommendation that your son be taught by someone with Special Ed qualifications, you might consider the possibility that it could be helpful to have a tutor in one or more areas of difficulty. Of course, some of the best advice on curriculum is actually found right here in the hive, but it has been helpful for me- both with my daughter and now with my son- to have community based SLPs, reading, and writing tutors who have been willing to work with them AND dialog with me about curriculum, teaching approaches, and behavioral strategies. Because they have worked with my children they can speak to the specific issues. We found our tutors through our neuropsychologist, who maintains a list of people he has vetted.

[jujsky]

It sounds like you're getting some good information from this eval, so it's worth it whether you get any coverage or not. However, you still want to give it your best shot to get some coverage. Make sure the claim is submitted, and if/when it is denied, contact the insurance company and ask to speak to a supervisor or case manager. Discuss the impact that your son's functioning has on your entire family's life- not just academics. When I spoke with our insurance company about how my son's difficulties affected our home life outside of academics and how unsuccessfully I had tried to handle it- for years- without help from *health* professionals, they reconsidered our claim and covered the evaluation.

 

As for the recommendation that your son be taught by someone with Special Ed qualifications, you might consider the possibility that it could be helpful to have a tutor in one or more areas of difficulty. Of course, some of the best advice on curriculum is actually found right here in the hive, but it has been helpful for me- both with my daughter and now with my son- to have community based SLPs, reading, and writing tutors who have been willing to work with them AND dialog with me about curriculum, teaching approaches, and behavioral strategies. Because they have worked with my children they can speak to the specific issues. We found our tutors through our neuropsychologist, who maintains a list of people he has vetted.

 

We intend to fight the insurance company on this if they don't cover it because it truly is affecting every aspect of our lives. In a lot of ways it's like having this very intelligent, well-spoken 8 year-old who is like a 3 year-old in many ways. His self-help skills are underdeveloped, and we often have to tell him every step to get him to do common sense things he's done a million times before. If we leave out a step, he won't do it. For awhile we thought he was being defiant, but it's not the case -- he really doesn't know any better.

 

I would definitely consider a tutor for math. That's his weakest area and my weakest area -- not a good match! We took him to the Kumon center for 9 months because we thought the kill-and-drill approach would work for him. The woman who ran it has a Master's in education, and couldn't make heads or tails of why he was struggling so much. If I could find a math tutor who understood his issues and could help him, I'd hire that person in a heartbeat. I balk at the idea that they might suggest in their report that he goes to school. I'm not against tutors. I'm not against school either, but I know in his case school wouldn't be the best fit for him.

[Tokyomarie]

I would definitely consider a tutor for math. That's his weakest area and my weakest area -- not a good match! We took him to the Kumon center for 9 months because we thought the kill-and-drill approach would work for him. The woman who ran it has a Master's in education, and couldn't make heads or tails of why he was struggling so much. If I could find a math tutor who understood his issues and could help him, I'd hire that person in a heartbeat. I balk at the idea that they might suggest in their report that he goes to school. I'm not against tutors. I'm not against school either, but I know in his case school wouldn't be the best fit for him.

 

Often, educators don't have a strong understanding cognitive deficits/differences from a neuropsychology perspective. I was given a heads up about this by our SLP/writing tutor before we met with the school about an IEP or 504 for my son. Sure enough, we found that they simply didn't get what we were trying to explain.

 

Finding the right person who has an understanding of the underlying weaknesses and how to use cognitive strengths to get around the weaknesses is not always easy, but I'm finding is worth the effort. Before our son had his neuopsych testing done, I had an intuitive sense that just any old writing tutor wouldn't do the trick. I knew it had to be someone with experience working with kids like my son. In our case, that person turned out to be a SLP who has long experience working as an academic therapist. She is also worth her weight in gold for all the encouragement she gives me concerning the value of all the hard work I've done at home.

[peacefully]

.

[rafiki]

.

[lulubelle]

My ds9 was diagnosed with Coordination disorder a couple of years ago by OT. Our insurance is not so great, so he only had 2x a week of OT during a 60 days period. I thought it was really great for him. He did some great large muscle movements with his body that were challenging and fun.

 

Afterwards, I signed him up for gymnastics. He already does swimming, skating, and karate. It has all been very challenging for him and none of it comes easy. He's had swim lessons for years and just can't get a good hold of the strokes. But, he did just manage to get his junior brown belt in karate and it has been a huge milestone and just great for his self-esteem. I also was able to sign him up for an adventure class at our town rec center (zip line, climbing high ropes, etc.). It's been great for him. And, all cheaper than paying for OT out of pocket once a week.

 

I'm not sure if his stomach muscles will ever get strong. I did have him evaluated for his eyes by a developmental optometrists and there were not problems there. But, worth having it done.

 

He does well with high repetition with most things. My latest worry for him is his difficulty summarizing a passage from WWE. I just need to help him along with questions that are more specific for him to answer.

 

Good luck on your journey with your son!

[funnygirl]

We intend to fight the insurance company on this if they don't cover it because it truly is affecting every aspect of our lives. In a lot of ways it's like having this very intelligent, well-spoken 8 year-old who is like a 3 year-old in many ways. His self-help skills are underdeveloped, and we often have to tell him every step to get him to do common sense things he's done a million times before. If we leave out a step, he won't do it. For awhile we thought he was being defiant, but it's not the case -- he really doesn't know any better.

 

You go girl!! :boxing_smiley:

 

They consider it "educational" and they won't pay for educational testing :tongue_smilie: Ridiculous since it's in the DSM and is treated with medication. They'll pay for medication if a pediatrician says he has it, but won't pay for a neuropsych to make sure it's diagnosed correctly -- even if the pediatrician recommends it and won't treat a child for ADHD without a neuropsych to confirm the diagnosis, as in our case.

 

Wanna hear another ridiculous one? Insurance companies won't pay for hearing aids for a child who is hearing impaired. SERIOUSLY.

[jujsky]

I just wanted to chime in and offer some :grouphug::grouphug:. My ds (7) was diagnosed with Developmental Coordination Disorder and SPD when he just turned 5. We have been through occupational therapy, vision therapy, speech therapy, physical therapy, you name it.

 

Since you mentioned his handwriting and drawing, you might want to think about getting an evaluation from a COVD optometrist after you have done a little OT. For my son, the fine motor issues extended to his eyes being unable to work together, converge properly and track smoothly. The hand-eye motor connection is incredibly important for getting other motor systems to work properly. I've seen it suggested many times that VT works more efficiently after the vestibular and proprioceptive systems have improved. We did OT for months and months, which included a little work with his visual system too, but we finally went for the COVD evaluation when he stopped making progress in OT. The visual system and vestibular system need to work together, and of course, you need both to have functional proprioception and coordination. We saw significant gains in fine motor skills, reading, handwriting, drawing, math and spelling after 8 sessions of vision therapy. Our OT was ecstatic with the improvements to his vestibular system after VT too.

 

Since you mentioned math in your post, I thought I should mention that before vision therapy at age 6, my ds could not establish one-to-one correspondence (something that my four-year-old does easily); hence, he could not accurately count, establish number sense, or understand basic math operations (1:1 correspondence is developmentally necessary for all the other number concepts). At the same time we were doing OT and VT, we started remediating his working memory with speech therapy. We were well along these therapies when he finally "got" one-to-one correspondence, counting and all the rest. He's doing fine in math now, where math used to result in tears on daily basis with absolutely no progress to show for it.

 

The other thing that you may want to check out is his level of muscle tone. My ds is quite hypotonic. We've done a ton of remediation in other areas, so this is our primary level of concern right now. Like you, we are doing activities like swimming, gymnastics, soccer and physical therapy (gross motor, of course, helps with fine motor movements), but we're also exploring a couple of nutritional avenues too.

 

It's a weird connection, but DCD kids are often hypotonic, and it affects every muscle system, including smooth muscle tissue, which in turn affects peristalsis and digestion. Poor digestion, in turn, can have significant effects neurologically, including dyspraxia, attention disorders, etc. We take therapeutic doses of probiotics and have changed our diet to see if we can make more progress than with activity and therapy alone. We are also under the care of a naturopath who can advise us on the appropriate dosages for nutritional supplements like vitamins, fish oils, and amino acids necessary for neurotransmitter production.

 

As you've seen from your own neuropsych report, DCD (aka dyspraxia) tend to run with other learning disorders—dyslexia, NVLD, ADHD, dyscalculia, speech disorders, etc. It's worthwhile to read the literature concerning these other issues to find ways to support the learning style of a DCD child. Our neuropsych did not feel that ds warranted an ADHD or dyslexia diagnosis, which absolutely floored me, because we have a strong family history of both disorders and ds seemed to fit the symptoms. I now understand why the neuropsych made the diagnosis that he did, but I continue to use programs and teaching methods that were developed to help dyslexic, dyscalculic, and dysgraphic students, even though ds is now at age-level or better in the areas of reading, math and writing. Whatever his level of achievement, his brain is still wired in a way that is similar to dyslexic and ADHD kids. In particular, working memory and processing speed have affected all areas of learning for my ds. Remediating his working memory has been huge (HUGE!) in helping him to learn more efficiently.

 

We did VT (I posted about it in another thread) after over a year of OT when DS was younger. The OT helped tremendously. The VT didn't work at all. They kept telling us there was a difference whenever they'd recheck him, but we didn't see any positive benefits of it. Actually, we saw a lot of negative behavioral outcomes because DS hated going so much and acted out. The therapist sent him out of his appointment early half the time because she "couldn't deal with him." This was a place that touted their ability to work with kids with ADHD and sensory issues :glare: Nothing was done when we complained about this young, flighty, inexperienced therapist. Yeah, it's a bit of a bitter topic for me. Instead of going on vacation that year, our tax return went to the VT everyone was telling us we "needed" for our son. It was $2,000 down the toilet for us, in addition to a lot of time invested (2X/week for 6 months) and no much-needed vacation. I know it's helped a lot of people on this board, and I think that's wonderful. I wish it had worked for us. OT helped, and I'm thankful we're probably starting that again. I have to call the place we used and get him in for an OT evaluation. They're really good there, so there's usually quite a wait to get in.

[jujsky]

 

 

 

Wanna hear another ridiculous one? Insurance companies won't pay for hearing aids for a child who is hearing impaired. SERIOUSLY.

 

 

WHAT?!?!?!?!?!?! That's insane. How can they justify that?

[jujsky]

Don’t take the special education comment personally. Actually to ease your mind, I would contact your local LDA chapter once you have the report in hand. The first consultation is free. The LDA acts on the child’s behalf, not the public schools. Their educational consultant will review your sons report and tell you what services if any he would receive in your district. I did just this for my youngest and it absolutely helped ease my mind and prevent me from wondering.

 

 

I'll look into that. I didn't know there were LDA chapters all over. The school did an initial evaluation for us (a ton of testing) and concluded that based on their tests, he wouldn't qualify for services because he doesn't show educational deficits. The lowest he scored on anything was low-average. Again, I feel that's precisely BECAUSE I homeschool him. I have only one other child and she doesn't have an LD. I feel guilt because I oftentimes neglect her and shove her off to the side because working with DS takes so much time, effort, and energy. Sadly, DD does not get the best of me.

[jujsky]

My ds9 was diagnosed with Coordination disorder a couple of years ago by OT. Our insurance is not so great, so he only had 2x a week of OT during a 60 days period. I thought it was really great for him. He did some great large muscle movements with his body that were challenging and fun.

 

Afterwards, I signed him up for gymnastics. He already does swimming, skating, and karate. It has all been very challenging for him and none of it comes easy. He's had swim lessons for years and just can't get a good hold of the strokes. But, he did just manage to get his junior brown belt in karate and it has been a huge milestone and just great for his self-esteem. I also was able to sign him up for an adventure class at our town rec center (zip line, climbing high ropes, etc.). It's been great for him. And, all cheaper than paying for OT out of pocket once a week.

 

I'm not sure if his stomach muscles will ever get strong. I did have him evaluated for his eyes by a developmental optometrists and there were not problems there. But, worth having it done.

 

He does well with high repetition with most things. My latest worry for him is his difficulty summarizing a passage from WWE. I just need to help him along with questions that are more specific for him to answer.

 

Good luck on your journey with your son!

 

Thanks for the encouragement :) DS did swimming and really liked it. He's been in gymnastics for the last 3 years and loves it.

[funnygirl]

WHAT?!?!?!?!?!?! That's insane. How can they justify that?

 

Right? We were absolutely BLOWN AWAY.

[FairProspects]

:grouphug:. My ds (7) was diagnosed with Developmental Coordination Disorder and SPD when he just turned 5. We have been through occupational therapy, vision therapy, speech therapy, physical therapy, you name it.

 

It's a weird connection, but DCD kids are often hypotonic, and it affects every muscle system, including smooth muscle tissue, which in turn affects peristalsis and digestion. Poor digestion, in turn, can have significant effects neurologically, including dyspraxia, attention disorders, etc.

 

As you've seen from your own neuropsych report, DCD (aka dyspraxia) tend to run with other learning disorders—dyslexia, NVLD, ADHD, dyscalculia, speech disorders, etc. It's worthwhile to read the literature concerning these other issues to find ways to support the learning style of a DCD child.

 

So, is it possible to have an SPD kid who is hypotonic, w/o DCD? Or do they typically go together?

 

We have our neuropsych eval in about 3 weeks and I have been gathering questions (thanks to you all on this board). Ds is SPD, and originally was hypotonic, strengthened now through OT and TKD to the point where diagnosis no longer fits, but is definitely not dysgraphic and has great handwriting. He is likely dyslexic though. I'm just wondering if I should be looking for something else or if I am worrying over a problem that is not there.

[NittanyJen]

. . . and of course, any child presenting with hypotonia, motor dyspraxia (or developmental coordination disorders), speech delays, graphomotor delays, ADHD, occasionally epilepsy, or some combination of the above (almost nobody has all possible symptoms, and some people have only a few), should always be screened for genetic disorders.

 

Horrifically underdiagnosed in the US, 1/500 live births represent an individual with an extra X or Y chromosome (as or more common than Down's Syndrome, whose advocacy organizations erroneously, but understandably, claim trisomy21 to be the most common genetic aneuploidy). You cannot look at kid or just clinically examine a kid and "tell" that he or she has an unusual number of X or Y chromosomes, but the academic and medical needs of this child can only be addressed if the issue is correctly diagnosed . . . via a simple blood test.

 

The symptoms are as much of a spectrum as the autism spectrum, with individuals varying from very little affect to severely affected (often more severely affected with increasing numbers of chromosomes such as XXYY or XXXXY).

 

One simple screening tool is available in the form of a questionnaire available at TheFocusFoundation.org. A "yes" answer to three or more questions yields a 40% chance of a positive genetic test. There are excellent reasons for an accurate diagnosis; it is not merely 'to satisfy curiousity' as there are potential psychological, medical, and family planning issues to address along with the academics.

 

And yes, I agree; go with the homeschooling :). My eXtraspecial guy has thrived ever since I pulled him out of PS and brought him home! Sometimes those people just cannot conceive of anybody but "a professional" knowing what they are doing! Hah! I'm the only professional there is when it comes to knowing my kid!

[peacefully]

.

[jujsky]

. . . and of course, any child presenting with hypotonia, motor dyspraxia (or developmental coordination disorders), speech delays, graphomotor delays, ADHD, occasionally epilepsy, or some combination of the above (almost nobody has all possible symptoms, and some people have only a few), should always be screened for genetic disorders.

 

Horrifically underdiagnosed in the US, 1/500 live births represent an individual with an extra X or Y chromosome (as or more common than Down's Syndrome, whose advocacy organizations erroneously, but understandably, claim trisomy21 to be the most common genetic aneuploidy). You cannot look at kid or just clinically examine a kid and "tell" that he or she has an unusual number of X or Y chromosomes, but the academic and medical needs of this child can only be addressed if the issue is correctly diagnosed . . . via a simple blood test.

 

The symptoms are as much of a spectrum as the autism spectrum, with individuals varying from very little affect to severely affected (often more severely affected with increasing numbers of chromosomes such as XXYY or XXXXY).

 

One simple screening tool is available in the form of a questionnaire available at TheFocusFoundation.org. A "yes" answer to three or more questions yields a 40% chance of a positive genetic test. There are excellent reasons for an accurate diagnosis; it is not merely 'to satisfy curiousity' as there are potential psychological, medical, and family planning issues to address along with the academics.

 

And yes, I agree; go with the homeschooling :). My eXtraspecial guy has thrived ever since I pulled him out of PS and brought him home! Sometimes those people just cannot conceive of anybody but "a professional" knowing what they are doing! Hah! I'm the only professional there is when it comes to knowing my kid!

 

Thank you -- I didn't consider genetic testing. DS was adopted at 6 months, and we have no medical history on his biological parents. I'll ask the developmental pediatrician about this.

[Ottakee]

Just a quick thought....has he seen a neurologist? If the low tone/hypotonia is from CP then insurance WILL cover it as a medical issue........speaking from experience here. Sometimes it is just the right coding that is the magic to getting the needed therapy.

[PeterPan]

So glad you got some answers! Yes, do some OT or PT. We've had people on the boards here find amazing PTs who were good with sensory, and more often it's an OT. OT is sort of this endless pit. If you have to pay yourself, you could try to find someone who will work with you once a month and give lots of homework. Make sure you read Yllek's posts too. There's a LOT of this OT stuff you can do at home once they show you how. Do you have "The Out of Sync Child Has Fun"? Have you tried a single line swing? We did that every session in OT, and I was so skunked that I was paying someone to do something I could do easily at home. You can buy a name brand SkyChair for around $100 and install it in your basement. There are even off-brand ones on amazon that will work for a small child (too light to rip or wear it out). We now have a chair like that (hammocky, from my MIL's basement), and the kids LOVE it. I'm talking they use it every. single. day. You'll wonder how you got by without it. Hugely important.

 

We have a small trampoline (rebounder, really small), but someone else was telling me about having a bigger one in her house, one with walls and everything. If you have the room, that's awesome too. They have smaller ones with bars to hold and electronics that do games as you jump.

[PeterPan]

You know different docs have different takes on the genetic testing, neurologist, etc. Since you don't know, you could ask questions. You can also get into a lot of EXPENSIVE, sometimes invasive stuff. But certainly there are things like the mitochondrial disorders you want to know about. My kids are both low tone and so am I. I decided not to pursue any of that testing. I don't know what I'd do in your shoes. I think anything that gets insurance coverage is of course worth it. When you're paying yourself, yeah take your time and sort it out. I'd like to know, but I'm not sure it always gives answers. Like if it's mito you take carnitine. So give him carnitine and see what happens. There's some evidence that medium chain fatty acids in coconut help. I have my ds on coconut milk (to avoid cow), and his tone is BETTER than dd's. Is it the coconut milk?? Don't know. I'm trying to convince my dd to start on it next. She drinks soy, and the taste is different. But to me, hey sure, anything like that that can help with the hypotonia is worth trying. We tried the carnitine and it gave us headaches. There was something else we tried. But anything in food we are good with.

 

The book "Gut Psychology Syndrome" talks about poor milk digestion causing chemicals to go into the brain that can cause praxis, adhd, sensory, etc. It's worth looking at. Any time we eat dairy now, we take enzymes from Houston.

[jujsky]

So glad you got some answers! Yes, do some OT or PT. We've had people on the boards here find amazing PTs who were good with sensory, and more often it's an OT. OT is sort of this endless pit. If you have to pay yourself, you could try to find someone who will work with you once a month and give lots of homework. Make sure you read Yllek's posts too. There's a LOT of this OT stuff you can do at home once they show you how. Do you have "The Out of Sync Child Has Fun"? Have you tried a single line swing? We did that every session in OT, and I was so skunked that I was paying someone to do something I could do easily at home. You can buy a name brand SkyChair for around $100 and install it in your basement. There are even off-brand ones on amazon that will work for a small child (too light to rip or wear it out). We now have a chair like that (hammocky, from my MIL's basement), and the kids LOVE it. I'm talking they use it every. single. day. You'll wonder how you got by without it. Hugely important.

 

We have a small trampoline (rebounder, really small), but someone else was telling me about having a bigger one in her house, one with walls and everything. If you have the room, that's awesome too. They have smaller ones with bars to hold and electronics that do games as you jump.

 

Do you mean a cuddle swing? Sort of like a hammock, but both ends are joined together to make almost a pocket? We have one in our basement. We bought it after the last round of OT when DS was around 5. I send him down to the basement sometimes between lessons to use it. It is the best thing ever! Well worth the money we spent. We used to have a small trampoline, but he's taller now and the basement ceilings are a bit low ;) I can't wait to get him back into OT. The place we went to when he was younger was awesome and we didn't want to leave, but ran into issues with insurance when DH changed jobs.

[NittanyJen]

You know different docs have different takes on the genetic testing, neurologist, etc. Since you don't know, you could ask questions. You can also get into a lot of EXPENSIVE, sometimes invasive stuff. But certainly there are things like the mitochondrial disorders you want to know about. My kids are both low tone and so am I. I decided not to pursue any of that testing. I don't know what I'd do in your shoes. I think anything that gets insurance coverage is of course worth it. When you're paying yourself, yeah take your time and sort it out. I'd like to know, but I'm not sure it always gives answers. Like if it's mito you take carnitine. So give him carnitine and see what happens. There's some evidence that medium chain fatty acids in coconut help. I have my ds on coconut milk (to avoid cow), and his tone is BETTER than dd's. Is it the coconut milk?? Don't know. I'm trying to convince my dd to start on it next. She drinks soy, and the taste is different. But to me, hey sure, anything like that that can help with the hypotonia is worth trying. We tried the carnitine and it gave us headaches. There was something else we tried. But anything in food we are good with.

 

The book "Gut Psychology Syndrome" talks about poor milk digestion causing chemicals to go into the brain that can cause praxis, adhd, sensory, etc. It's worth looking at. Any time we eat dairy now, we take enzymes from Houston.

 

Elizabeth, I agree with the idea that just because you take a test does not guarantee that you will get a useful result. There are also emotional, social, and other issues that should be considered prior to undergoing genetic screening ("what if I discover that I'm a carrier for Huntington's Disease?" etc; understand exactly what test is to be run, how sensitive it is, and what it might reveal). There is an emotional danger that you will take a test and not get an answer, feeling let down. These are all things to discuss with the doctor.

 

There is the VERY sad fact that the overwhelming majority of physicians in the US are misinformed about XXY, believing that it is not a pediatric disorder, has no pediatric symptoms to be concerned about, or on the other scale, overstate it (thanks to faulty studies from the 50's using prisoners) and think it turns kids into monsters (one study recently found that over 30% of obstetricians erroneously counseled expectant mothers to automatically abort a 47,XXY fetus, on grounds that it was destined to be a monster). Even a majority of endocrinologists are poorly informed on managing these individuals correctly, not knowing how to adjust T-levels for them compared to a typical 46,XY individual. Because of the lack of knowledge base about genetics among physicians, it may be better to consult a geneticist about any concerns.

 

Some clusters of symptoms merit considering a test, because missing the diagnosis can have medical consequences that really could have been addressed, and not just by drinking coconut milk.

 

I have talked with so many men (in particular) who were not diagnosed until adulthood, whose lives would have been so much easier had they been diagnosed younger. I have chatted with couples struggling with their marriage (diagnosed as XXY in a fertility clinic, long past the age where fertility could have been re-established or preserved at puberty) struggling with identity (lacking T supplementation, having battled concentration and self confidence problems all their lives (Testosterone affects both of these) and been labeled "lazy" or "a dreamer" (lack of understanding of the underlying problem and how to treat it) despite a high IQ, and more I could get into.

 

So, it is true. There is not one universal opinion on genetic testing. It will not yield an answer on a platter for everyone. That is one reason why I pointed to the screening questionnaire on the Focus Foundation site-- a screening tool that simple that points to a 40% positive rate for chromosomal testing for extra chromosomes is pretty significant, because THAT result IS significant, and important, and cannot be cured by coconut milk, or any other home-brewed means, nor can it simply be ignored. We're (the families and medical community around kids and adults with SCA's) are not trying to medicalize something trivial. I've seen the results firsthand, and I'm dealing firsthand with a child with this disorder-- and I know what it was like before we knew what his story was.

 

My heart breaks every time I meet and talk with another man who didn't know until he was 30 or 40 or 50 and fought depression and worse over why he struggled with the things that he did, when the answer was just a blood test away.

[Crimson Wife]

We did the basic genetic testing recommended by the developmental pediatrician after the ASD diagnosis. It actually wasn't all that expensive. It was billed at $625 and the insurance discount brought it down to $337. We have a 90/10 split so we paid $34. It ruled out Fragile X and some other genetic abnormalities that might've explained the symptoms.

 

Now, if the neurologist winds up referring us to the neurometabolic clinic, that specialized genetic testing might be much more expensive. We might wait on that until after we hit our annual out-of-pocket maximum.

[PeterPan]

Jen, I read quite a bit about mito stuff when I was making our decision about the neurologist thing, but I know nothing about this genetic thing (chromosomes). I looked at the questionaire on that site, and it's terribly generic. So my dd has flat feet and is tall (like 97th percentile, always has been). My dad is 6'4" and my brother is tall too. I mean you're saying that can't look at symptoms, but that's just a list of things that overlap with tons of other stuff.

 

Did you have *other* symptoms in your dc that drove you to pursue this route? What was it that pushed you in that direction? Just curious.

[NittanyJen]

Actually, his dx came as a complete shock-- which is ironic. I was a genetics bench scientist by training, and had spent an entire semester's graduate course in genetics studying human genetics through the lens of 47,XXY as a case study... and it wasn't even on my radar for him at the time!

 

Why was he tested at all?

 

He was a happy, healthy, 'easy' baby who never fussed and got along with everybody. He also missed milestones, despite what I felt were signs of being 'all there' and really trying. A little brother desperate to follow big brother around, he didn't walk until 23 months. He made jokes in sign language, but didn't say so much as 'Da-Da' recognizably until 25 months. By age 3 (by which time I was already pushing for developmental evals) he could not jump, navigate a rough surface, sit in a swing or on a slide, climb, or run past a kind of fast-walk/waddle. Stairs were a nightmare. He was demonstrably smart, but speech issues persisted. By 4 1/2, still no running, a PT had had to teach him to jump with joint by joint instruction, still no swings or slides, sensory issues, could only write standing up and with pencil grips, plus other issues.

 

I honestly was thinking some form of muscular dystrophy, one of the milder types. The pediatrician said he was normal and I was a helicopter parent. The neuromuscular-specialist neurologist colleague I took him to see finally on my own drew blood to test for fragile-X, but I knew that wasn't it, so he appeased me by looking for the Muscular dystrophy too. Then the blood work came back and said we were all wrong, 47,XXY it was, and that's when I started learning how little even that grad course had taught me about the pediatric end.

 

Some of the more common symptoms are low muscle tone, speech delays, reading delays, coordination issues, and anxiety. In the youngest kids, yes, ths means early 'generic' symptoms like poor breast feeding coordination, being a bit floppy (easy to miss in my preemie) and being 'easy.'. You know, those disgustingly frustrating things that fit everything including some completely typical babies!

 

But I would take note if all that happens and >1 milestones are missed (not 1 is on the later side... We all have those! But if a a few are really out of range).

 

In school age, executive function, audio processing, ADHD, reading delays, difficulty remaining in a chair (could be disguised pain) or on the floor, noise/sensory issues, autistic like symptoms that just aren't autism, tooth enamel problems, slowed social development, motor dyspraxia, mild epilepsy, dysgraphia, and speech, and any range of of intelligence from delayed to average to highly gifted. No XXY kiddo has all of that stuff; it's a spectrum, thanks to both normal genetics and the way the X chromosome works.

 

More issues kick in at puberty and adulthood (everything from lack of concentration or self-confidence to probable infertility).

 

On the up-side: it's super easy to diagnose, manage, and live with once diagnosed (it is not progressive or degenerative, and s generally spontaneous rather than inherited; the few who have ad kids, probably mosaic, have not passed it along, and a few really good docs are working on the fertility issue). Each sub-issue can be correctly addressed once diagnosed, and we know guys with XXY go on to live normal lives with jobs, families, and normal lifespans. All that remains is earlier diagnosis to make better opportunities and earlier medical intervention, and better awareness to remove the stigma from the old erroneous studies.

[Sahamamama]

They consider it "educational" and they won't pay for educational testing :tongue_smilie: Ridiculous since it's in the DSM and is treated with medication. They'll pay for medication if a pediatrician says he has it, but won't pay for a neuropsych to make sure it's diagnosed correctly -- even if the pediatrician recommends it and won't treat a child for ADHD without a neuropsych to confirm the diagnosis, as in our case.

 

What a Catch-22. My husband says that sounds like a government office in a third-world country. "Go to Window 1 to get Form A." When you get to Window 1 and ask for Form A, you are told you needed to get Form B-12 from Window 17 first, but you need Form A to get Form B-12. And all day you are waiting in lines, only to have to start over again at the end of every line. Or something like that. :001_huh:

 

:grouphug: I hope for all the best for you and your family.

[Ottakee]

We did the genetics/mito testing as things just didnt' seem 'right". They didn't seem to add up and the pieces weren't really fitting any puzzles.

 

I am glad we did. Now they can do much more just through blood tests but my older dd did have a muscle biopsy that took 9 months to get the results back on.

 

Ends up that 16dd has POLG-1, LHON, and TK2 and 15dd has POLG-1 and LHON but doesn't seem to have the TK2.

 

Having a MEDICAL diagnosis does make getting services and therapy MUCH easier. We also have a few guidelines on treatments but since they are the only ones known to have this combo, we are shooting in the dark to some degree. We also have things we need to monitor like kidney function (both have mild issues that we might not have otherwise even screened for), heart health, etc.

[funnygirl]

Actually, his dx came as a complete shock-- which is ironic. I was a genetics bench scientist by training, and had spent an entire semester's graduate course in genetics studying human genetics through the lens of 47,XXY as a case study... and it wasn't even on my radar for him at the time!

 

Isn't it crazy how these things happen? I am a pediatric operating room nurse and was spending every day in pedi ENT surgery when we discovered that dd was hearing-impaired.

[PeterPan]

Nittany, so if the symptoms overlap so much with other problems, is it a matter of DEGREE? What are the hallmarks of this that are the ultimate red flags, the ones that you go oh yeah, pursue that route? Like there needs to be the developmental delays ALONG WITH the things on the list?

 

Ok, another question. So what you're describing is an xy chromosome issue that is *not* typically heritable, right? So if a family has a *pattern* of this in (parent and kids), then they would have every reason to assume it's probably *another* problem? And do kids with cp and autism also turn out to have these xy issues? Those are things, again, where you have the same symptoms and a matter of degrees. So I'm trying to figure out if you're saying it would turn out that ALL those kids have xy chromosome issues.

 

I caught the part about the fertility. So you're saying the likelihood of them being able to conceive on their own is nill? So any biological mom with low tone, sensory, and others of those things on the list can eliminate the xy issue as a likely cause of her problems or her kids'?

[Tokyomarie]

Because this particular genetic issue is an XY issue, all affected people are male. The male has an extra X chromosome (so they are XXY, in the most common variation), which affects the way the Y chromosome gets expressed. They have low testosterone levels, which affect male fertility.

[Ottakee]

The XXY could be ruled out but if there are multiple people in the family affected with something, there is a greater chance that it has a genetic basis and might be a genetic disorder or mitochondrial disorder or ????

 

Having more than 1 child with similar issues would make me want to pursue this a bit further. You might need a top notch children's hospital though for the testing.

[PeterPan]

Oh, somehow I totally missed that. So not only is it a profile that doesn't fit us, it's not even the right gender, lol. Thanks for clarifying that! I didn't want to miss something, but it's clearly not a fit for us. But it is strange that their profile questions are so broad. Basically a lot of moms could get really freaked out about something that isn't likely to be the case. I'm all for not missing something, but it needs to be more clear when you should be worried. When I checked into genetic testing on the mito stuff (which I actually would have done), it was VERY expensive. And I don't think that even covered anything else. It was like you were going to pay $1.5K and get ONE thing tested. :(

[Crimson Wife]

The understanding I have is that certain chromosomal abnormalities can cause symptoms that mimic ASD, but most kids with ASD will turn out to have normal karyotypes.

 

My DD with ASD is 46 XX and she was also negative for the other common genetic markers they tested. Now, she just had the basic genetic screening and it's possible there could be a more unusual genetic problem. The neurologist will make a referral to the neurometabolic clinic if she thinks that there are enough red flags to warrant one.

[Crimson Wife]

When I checked into genetic testing on the mito stuff (which I actually would have done), it was VERY expensive. And I don't think that even covered anything else. It was like you were going to pay $1.5K and get ONE thing tested. :(

 

Yeah, this is what concerns me about possibly taking DD to the neurometabolic clinic. Even with insurance, that kind of specialized testing could really add up.

[FairProspects]

Ack, since I have to pay $4K out of pocket for the neuropsych eval, there is no way I can go looking for more things. It annoys me that their questions are so broad too. Like I need one more thing to worry about that insurance won't pay for anyway.

[NittanyJen]

Nittany, so if the symptoms overlap so much with other problems, is it a matter of DEGREE? What are the hallmarks of this that are the ultimate red flags, the ones that you go oh yeah, pursue that route? Like there needs to be the developmental delays ALONG WITH the things on the list?

 

Ok, another question. So what you're describing is an xy chromosome issue that is *not* typically heritable, right? So if a family has a *pattern* of this in (parent and kids), then they would have every reason to assume it's probably *another* problem? And do kids with cp and autism also turn out to have these xy issues? Those are things, again, where you have the same symptoms and a matter of degrees. So I'm trying to figure out if you're saying it would turn out that ALL those kids have xy chromosome issues.

 

I caught the part about the fertility. So you're saying the likelihood of them being able to conceive on their own is nill? So any biological mom with low tone, sensory, and others of those things on the list can eliminate the xy issue as a likely cause of her problems or her kids'?

 

XXY's fall on a spectrum from mild to severe. Yes, the questionnaire seems broad, however, it does have a 40% positive correlation to chromosomal abnormalities when testing is done, which means it is, in fact, not uselessly generic. I do not think it should panic any moms, as it is not diagnostic, and the things the genetics would turn up are not generally life-devastating; just really useful to know. By the time you take that questionnaire, you probably already suspect a problem and are seeking, not dreading, answers.

 

There are many forms of autism that are X-Chromosome linked. The two most common non-Rett forms involve the X chromosome and a duplication on chromosome 15 (either inside the chromosome or another mini chromosome). There are a few others as well, but that research is still ongoing, and there is evidence that some X-linked issues can run in families, including autism.

 

You are correct that there is some symptom overlap among conditions. Is this a coincidence? Right now... We do not know. Heck, I don't know how Apple can engineer an iPad and yet make it insist on putting a capital letter after an ellipsis every dang time <grin>. Chances are that it is not a coincidence, as even in chromosome-15 linked autism (idic (15)) there is evidence of X-chromosome involvement, but autism is a really complex issue. I am not very knowledgable about CP and cannot comment, as all of the cases I am personally familiar with resulted from birth injury or prenatal drug abuse, as far as is known.

 

I would not say every autistic kid has an X or Y chromosome issue. Many other affected chromosomes do interact with the X, but that probably still does not explain all of them.

 

Research continues. My son, thanks to being diagnosed, has been able to participate in several studies now to help refine what we know, and hopefully help create better non-invasive tests as well as testing some early treatments. In my own research into idic(15) type autism, we were busy correlating detailed genetic analysis with testing data reporting lots of phenotype information (areas of strength and weakness, physical traits, medical issues, social traits, etc). Maybe one day, we will have better answers.

 

I do know that as long as we are only identifying 10% of 47,XXY kids, getting accurate data and raising awareness will remain difficult, and many stereotypes and social stigma will remain... and in most districts, homeschooling will be the only real option for kids like my son who are denied benefits for a poorly understood dx (cn you believe he lost his IEP when he was dx'd? We have a really bad district... They just dare you to sue, and we din't have the resources. Little did they know what a favor they were doing us, as it pushed us to discover homeschooling...).

[PeterPan]

Nittany Jen, that's all very fascinating. Just out of curiousity, what does the testing run that you're talking about? Just wondering. What you're saying though makes a lot of sense, that there's a lot of overlap and they're just tryign to sort it out. Like I said, I think genetic testing is fascinating, but the info I found (when researching mitochondrial disorders) was really expensive, over a grand just for one test.

[NittanyJen]

I guess it depends on your insurance. It cost me $15. The non-covered cost will vary greatly lab by lab, and depending on your ability to work out an accommodation with the hospital.

 

That is also the point of the questionnaire-- as generic as it seems, a 40% positive correlation with real findings is pretty significant. I would not just grab it and run to the nearest lab; I would fill it out and discuss it with my doctor, or call the Focus Foundation and ask for further information and clarification. I'm not a doctor or a medical practitioner; just an aware parent and former researcher. Please keep that in mind too.

 

I don't mean that every person needs a genetic test, and I do admit that I am on a pretty large soap box, partly because I think awareness is pathetic for some pretty important disorders. But I think using it as a basis for a discussion with the doc is a very good idea, even if you end up educating the doc (probably many will not be up to speed about its validity, but that is to be expected; the important thing is YOU being heard if you have concerns, or YOU listening to your doctor's reassurance if you do not really have concerns and are looking for reassurance. The conversation is a good one to have).

 

I do also go in the other direction, after meeting some kids, and advise parents this: Always listen to your gut. If you aren't concerned, don't let somebody talk you into worrying. We do not need to medicalize every aspect of our children that is one step to the left or right from our idealization of "average." I see this a lot at XXY conferences for parents. They want to attribute every quirk of their kids to XXY-- "he needs glasses. Nearsightedness MUST be part of XXY!" Ummmmm, well, that's going to be a hard one to link up, I'm afraid. "He acts out in class! The teachers says it must be because he's XXY!" Well, lots of kids act up in class. Let's just treat the behavior, okay? Remember, he's still just a kid, first and foremost, not a condition!

 

Hope that lends a little balance to what I've presented here . . . and thanks so much for the discussion! If you do feel you don't need testing, there really is a possibility that you don't (remember that 40% correlation with that test? The flip side is that . . . over half the kids will NOT test positive for anything).

 

Jen