Small update on Help me I'm panicking post.

[Guest guest]

So, I called today and talked with the genetic counselor again to get answers to

my many questions and worries. Although we still have to wait for results on

analysis of the second gene to know for absolute sure what is going on, he was

able to put some of my fears at ease (somewhat). Apparently this mutation that

ds has is extremely rare, and there is very little research that might help us

know what the future brings if he was missing the second gene. But, he

explained to me that we know he has the other gene, it is not missing, which is

good news. He has 'partial' deletion on of the " alleles " of the 1st gene. So,

more than likely he has 1 and a half of what would normally be a complete set of

2. If the other gene is whole, intact, and functioning, then the mutation of the

first gene may have absolutely no effect on ds at all.

What needs to be determined now is if the second gene has any abnormalities to

determine if he has any potential mitochondrial problems as a result of it.

Because ds doesn't have any organ problems, all of his organic acid results, and

other blood levels are all normal, he says there is absolutely no reason to

suspect that anything will change or degenerate as far as his condition, so long

as he maintains a healthy lifestyle that won't tax any underlying mitochondrial

issues that may or may not exist. We won't know if there's a mito issue until

analysis of the 2nd gene comes back. I suspect that there probably is a mito

issue, based on DAN testing, bad reactions to anasthesia, etc, but he says he's

not so sure. In a nut shell, there is really no answer to if this will ever be

degenerative, because this anomaly has never been studied long enough to know.

There is some indication in other asd kiddos, that have a mutation in this same

gene, but that's as much as science can tell us. I'm waiting for the geneticist

to call me to explain suplementation that may or may not help if he ends up with

a mito issue, that they don't think will be that significant if he does have

one:)

I'm still not totally pacified as to what this means, but I feel a little more

at ease.

[Guest guest]

,

I'll be praying that he won't be affected and there will be no degeneration. As to supplementing, don't hold much hope in the geneticist knowing much about it unless he / she is a metabolic geneticist. I have found most don't know much about supplements. :-(

Keeping your family in prayer and glad that the news sounds more positive then negative!!! ((HUGS))

Patty T - mom to

http://www.caringbridge.org/md/myjesse

Small update on Help me I'm panicking post.

So, I called today and talked with the genetic counselor again to get answers to my many questions and worries. Although we still have to wait for results on analysis of the second gene to know for absolute sure what is going on, he was able to put some of my fears at ease (somewhat). Apparently this mutation that ds has is extremely rare, and there is very little research that might help us know what the future brings if he was missing the second gene. But, he explained to me that we know he has the other gene, it is not missing, which is good news. He has 'partial' deletion on of the "alleles" of the 1st gene. So, more than likely he has 1 and a half of what would normally be a complete set of 2. If the other gene is whole, intact, and functioning, then the mutation of the first gene may have absolutely no effect on ds at all.

What needs to be determined now is if the second gene has any abnormalities to determine if he has any potential mitochondrial problems as a result of it. Because ds doesn't have any organ problems, all of his organic acid results, and other blood levels are all normal, he says there is absolutely no reason to suspect that anything will change or degenerate as far as his condition, so long as he maintains a healthy lifestyle that won't tax any underlying mitochondrial issues that may or may not exist. We won't know if there's a mito issue until analysis of the 2nd gene comes back. I suspect that there probably is a mito issue, based on DAN testing, bad reactions to anasthesia, etc, but he says he's not so sure. In a nut shell, there is really no answer to if this will ever be degenerative, because this anomaly has never been studied long enough to know. There is some indication in other asd kiddos, that have a mutation in this same gene, but that's as much as science can tell us. I'm waiting for the geneticist to call me to explain suplementation that may or may not help if he ends up with a mito issue, that they don't think will be that significant if he does have one:)

I'm still not totally pacified as to what this means, but I feel a little more at ease.

[Guest guest]

Thanks for keeping us posted . I've been thinking a lot about

your family this week and hoping you get some good news.

Please keep us updated as you hear more. (((hugs)))

>

> ,

>

> I'll be praying that he won't be affected and there will be no degeneration.

> As to supplementing, don't hold much hope in the geneticist knowing much

> about it unless he / she is a metabolic geneticist. I have found most don't

> know much about supplements. :-(

>

> Keeping your family in prayer and glad that the news sounds more positive

> then negative!!! ((HUGS))

>

> Patty T - mom to

> http://www.caringbridge.org/md/myjesse

>

>

>

> Small update on Help me I'm panicking post.

>

>

>

>

> So, I called today and talked with the genetic counselor again to get

> answers to my many questions and worries. Although we still have to wait for

> results on analysis of the second gene to know for absolute sure what is

> going on, he was able to put some of my fears at ease (somewhat). Apparently

> this mutation that ds has is extremely rare, and there is very little

> research that might help us know what the future brings if he was missing

> the second gene. But, he explained to me that we know he has the other gene,

> it is not missing, which is good news. He has 'partial' deletion on of the

> " alleles " of the 1st gene. So, more than likely he has 1 and a half of what

> would normally be a complete set of 2. If the other gene is whole, intact,

> and functioning, then the mutation of the first gene may have absolutely no

> effect on ds at all.

>

> What needs to be determined now is if the second gene has any abnormalities

> to determine if he has any potential mitochondrial problems as a result of

> it. Because ds doesn't have any organ problems, all of his organic acid

> results, and other blood levels are all normal, he says there is absolutely

> no reason to suspect that anything will change or degenerate as far as his

> condition, so long as he maintains a healthy lifestyle that won't tax any

> underlying mitochondrial issues that may or may not exist. We won't know if

> there's a mito issue until analysis of the 2nd gene comes back. I suspect

> that there probably is a mito issue, based on DAN testing, bad reactions to

> anasthesia, etc, but he says he's not so sure. In a nut shell, there is

> really no answer to if this will ever be degenerative, because this anomaly

> has never been studied long enough to know. There is some indication in

> other asd kiddos, that have a mutation in this same gene, but that's as much

> as science can tell us. I'm waiting for the geneticist to call me to explain

> suplementation that may or may not help if he ends up with a mito issue,

> that they don't think will be that significant if he does have one:)

>

> I'm still not totally pacified as to what this means, but I feel a little

> more at ease.

>

>

>

>

>

>