acidosis questions

[Guest guest]

Recently my son was put on acetazolamide (diamox) to see if it would

stop his episodes. It didn't work, and it made him very weak and

sort of " drunk " seeming. His speech also slowed down a lot. On the

10th day, he ended up in the ER because he was having a lot of

trouble breathing. It turned out he was acidotic.

The breathing is similar to some things we have seen before. Also,

the weakness. He gets other symptoms at times that only affect one

leg, or one side of his body, or swallowing/speech, etc, and he has

normal energy and breathing at those times (unless he is aspirating).

But he definitely has had times in the past when he has this

inexplicable fatigue, and his speech and swallowing are usually

affected. When the fatigue lifts, his speech and swallowing improve

right away.

His ped and I are now wondering if maybe he has been somewhat

acidotic in the past, without meds.

Isn't that something that can happen in some mito disorders? If so,

are there other tests we should be doing when he has an episode? (or

in between - we are wanting to check if there are changes when he has

an episode)

My husband and I do not want to do a muscle biopsy at this time,

unless we see more reason to do it. But we figure if there are other

blood tests that could be done when he is already having blood drawn,

that would be an easy thing to do, if it would help.

I should mention that his lactic acid levels were checked one time

before, when he was symptom-free, and they were within normal

limits. But we are wondering if maybe he becomes acidotic at times,

and not all the time.

I came across something called pyruvate carboxylase deficiency, that

says in kids who are more mildly affected, it can show up

intermittent lethargy or ataxia. And some kids are only acidotic

during an episode.

Thanks,

Lynne

[Guest guest]

>

> Lynne,

I think when he is having a spell it would be a good time to check

for acidosis and general amino and organic acids. They have said

that when a child is sick that these may show the true issues.

definately has these times when she is extremely tired and

looses steps. when she is no longer tired she continues to grow and

develop.

Good luck, Dawn