Autism in my cousin's children

[sbgrace]

Huh.

 

I have a son on the autism spectrum. It doesn't matter of course but I always assumed it came from my husband's side where there are clear subclinical spectrum people all through.

 

My mother has two sisters and a brother. The brother has no spectrum grandchildren to my knowledge (that family lives far away). However, each of my mother's sisters have a spectrum grandchild. I just found out today about the one's diagnosis (he's 3).

 

Of the three (my mother and her two sisters) there are only four children with children--myself, my sister, a male cousin, and a female cousin. Three of us have spectrum kids.

 

 

Do you think it could just be chance that three are diagnosed and it's not in that family's genes? Or do you think it's probably related.

 

My son has a metabolic condition that can cause autism. I very likely have it too--I gave it to him. But those other kids, the one especially, shows no signs of it to me. I'm just wondering now whether I should say something about the metabolics. Maybe cousin's kids or even my sister's children should have some screening. This condition can be triggered. We treat my healthy child even those he's shown no symptoms. Genetics hopes it will help keep him from crossing the threshold to symptomatic if he also inherited this from me.

[Crimson Wife]

Could the metabolic symptoms be subtle?

 

My youngest DD is suspected of possibly having mito issues but that wasn't at all on my radar until our pediatrician checked her carnitine levels after her autism dx. DD is mildly hypotonic, tires a bit easily, and she reached her motor milestones on the late side of normal while her siblings reached them on the early side. There was nothing to really raise a red flag except the atypical autism (sometimes she'd be social while other times it was like she was off in her own little world). When she responded very positively to acetyl-L-carnitine and CoQ10, that's what made me think it might be mito disorder.

 

We haven't pursued a referral to the neurometabolic clinic because the testing would likely be very expensive and there really aren't any treatments at this point beyond what we're already doing with her.

 

I think it would be good to suggest testing for a carnitine deficiency as that's relatively easy and inexpensive, and supplementing with carnitine can make a big improvement if it turns out to be an issue.

[Tiramisu]

Could the metabolic symptoms be subtle?

 

My youngest DD is suspected of possibly having mito issues but that wasn't at all on my radar until our pediatrician checked her carnitine levels after her autism dx. DD is mildly hypotonic, tires a bit easily, and she reached her motor milestones on the late side of normal while her siblings reached them on the early side. There was nothing to really raise a red flag except the atypical autism (sometimes she'd be social while other times it was like she was off in her own little world). When she responded very positively to acetyl-L-carnitine and CoQ10, that's what made me think it might be mito disorder.

 

We haven't pursued a referral to the neurometabolic clinic because the testing would likely be very expensive and there really aren't any treatments at this point beyond what we're already doing with her.

 

I think it would be good to suggest testing for a carnitine deficiency as that's relatively easy and inexpensive, and supplementing with carnitine can make a big improvement if it turns out to be an issue.

 

Wouldn't metabolic testing be covered by insurance?

[Lecka]

My niece just got diagnosed with Diabetes last year. My sister and mom both talked to me about possibly getting blood sugar tests done on my kids, b/c with my niece she probably had high sugar for a long time before it got bad enough to show symptoms. It seems like it is on my BIL's side and I haven't taken offense at being told. But -- it is on my radar and I will mention it to my pediatrician the next time I take my kids.

 

So -- I would say -- mention it.

[sbgrace]

My son's metabolic condition affects mitochondrial function too. So it can be very subtle especially if the amount of damaged mitochondria haven't yet crossed the threshold to symptomatic. That's what bothers me. I was healthy as a child. I met all my milestones ahead of schedule and I remember biking for miles, swimming all day, etc. I noticed in college my stamina for exercise had decreased. But I was/am mildly low tone and that existed back when I"m sure. It was until I was mid-30's until I actually got symptomatic/sick.

 

The one cousin's child doesn't have a bit of mito signs that I can see though---tone, energy, growth are at or above normal. I'm not sure about the other as he's younger, I've not been around him as much, and I've always sort of wondered about his uncle showing mito signs honestly. My sister's kids are 100% developmentally normal. One has some fatigue/exercise intolerance issues and is smaller than the rest. But he's also a severe allergy and asthma kid so it's hard to sort out the two. I don't mind mentioning to my sister. It's hard to think about cousins though. I guess I'll mention it to mom who can give it to aunts if she wants.

Edited July 1, 2012 by sbgrace

[Crimson Wife]

Wouldn't metabolic testing be covered by insurance?

 

Possibly, but we'd still have a cost-share. If there were treatments available, then absolutely we'd shell out for the testing. However, everything I've read about mito disorder has said that there aren't any treatments beyond supplementing with various B vitamins, carnitine, CoQ10, MCFA's, etc. which we're already doing.

[Tiramisu]

Possibly, but we'd still have a cost-share. If there were treatments available, then absolutely we'd shell out for the testing. However, everything I've read about mito disorder has said that there aren't any treatments beyond supplementing with various B vitamins, carnitine, CoQ10, MCFA's, etc. which we're already doing.

 

I see what you mean about the treatment. That's what I started thinking after reading up following all the low-tone threads.

 

FWIW, after those threads, I really upped the B's. Though I've known for years I've had a problem with B12 and have been taking that pretty regularly along a multi or B-complex, I started taking folic acid and B6 every day, too. Wow! I've seen a tremendous difference. My constant fatigue is gone, and I don't feel like I'm ready for bed at 6pm. I'm staying up later and sleeping better. Getting out of bed in the morning is easier. I'm tackling things that I've been putting off forever like cleaning out my closet.

 

Dd is peppier, too, and I've wondered about metabolic issues with her. I don't keep track of what she's taking everyday but I've told her to take all those B's, and I push the iron with her since her hemoglobin is always borderline. She hates taking vitamins, and she forgets which ones to take, but she definitely has become better about it. She doesn't seem as tired either or have as many physical complaints. She wants to go out with us more as a family. She's also more careful about her diet and has lost a little extra weight, not that she was ever overweight at all. It just seems like in a short time things are coming together for her, like her overall functioning is just better.

 

My fish oil has finally run out so now I've been taking a mix of krill oil and flaxseed oil, and in the last week my head has felt clearer. I haven't even opened the CoQ10!

 

Well, none of this answers, sbgrace's question about bringing this up with relatives. I'm sorry for the hijack....At the same time, maybe this kind of approach would help. If sbgrace is afraid of seeming like she's putting pressure on her relatives, maybe she could just positively share what her son has, how she thinks she may have the same problem, and what's helped with her son and maybe her, too. Then leave it to them to make the connection.