Re: News on Jake--Barb

[Guest guest]

Please give Jake our best

I know nothing about Mito Disease --but wanted you to know our thoughts and

prayers are with you

I would think there would be a " group " to join --just like the Keto site

Will Jake stay on the Keto Diet?

I know of someone, with a daughter, diagnosed recently with " a Mitochondrial

Disorder " , and the little girl had to be taken off the diet-- their reasoning

was the " metabolic issues of the diet--exasperating the Mito condition????

Just wanted to offer you a " Hello & Thinking about you " .

Sandi

Mom to Zara

[Guest guest]

Please give Jake our best

I know nothing about Mito Disease --but wanted you to know our thoughts and

prayers are with you

I would think there would be a " group " to join --just like the Keto site

Will Jake stay on the Keto Diet?

I know of someone, with a daughter, diagnosed recently with " a Mitochondrial

Disorder " , and the little girl had to be taken off the diet-- their reasoning

was the " metabolic issues of the diet--exasperating the Mito condition????

Just wanted to offer you a " Hello & Thinking about you " .

Sandi

Mom to Zara

[Guest guest]

Oh Barb, not sure what to say...In some ways, some kind of answer is a good

thing. But I realize that without it leading to a cure, well, it's not as

happy news as you'd like. Our neuro (did his residency at Cleveland under Bruce

Cohen) sent us to the United Mitochondrial Disorders website

(http://www.umdf.org/<http://www.umdf.org/>) for info. It's kind of a " bulky "

site that's time consuming to muddle through, but it's got some good stuff.

I wish so much our daughter's biopsy had made it to Cleveland...they have a good

reputation for finding what some other labs miss in their haste. Long story

short, her biopsies never reached Cleveland and we're not going to trust the lab

at Seattle Children's to touch her biopsy specimens again. Sigh. I won't even

go into that.

If it's any help, we did start out on the " Tier One " supplements on the neuro's

recommendation from gross visual scan of the biopsy. There was some

mitochondrial abnormality, though we have nothing definitive like Jake's result.

We have seen some improvements in temperature regulation, something that my

daughter has struggled with. She is better able to regulate those popsicle

hands and feet and can even sweat in the heat now. Take heart, it may be that

Jake can see some improvements too. Maybe the other mito parents have some

ideas for helping with vitamin tolerance (I'm thinking dosing schedules, dietary

adjustments?)?

Good luck,

Rose-Marie,

mom to (8 year old, Rett syndrome)

[Guest guest]

>>>Just a thought....does Seattle have her muscle tissue stored?<<<

Good thought, BUT no, they LOST 's sample before it could be shipped. Our

neuro had specified the biopsy specimens were to be sent immediately to

Cleveland for culture and in-depth eval, but they were somehow " lost " before

this could happen. The lab administrator wouldn't even fess up to this error

for many months--and somehow pinned the blame on our neuro, not for losing it

but for even ordering it done??? This is the same Children's lab that dropped a

raft of her blood taken when she was 20 months old during major dx testing so

that she got to " donate " all over again (not fun when she was in the middle of a

huge screaming regression, let me tell you!). Now, the dropped blood sounds

like an honest mistake, but LOSING biopsy material??? There was a third major

lab error that ought not to have happened, which I can't recall (sorry, I was

busy giving birth a the time), but I'm thinking that with three strikes on the

same child, they're out in my play book. handled the biopsy procedure

like a pro, but with the continual pain she's been in since we started the keto

diet, there is no way I'm putting her through that again under those same

conditions.

Oooops, I apologize. Ranting got the better of me,

Rose-Marie,

mom to (8 year old, Rett syndrome)