Re: Re: New Here and Carnitine question

[Guest guest]

Hi Randee,

A fresh (not frozen) muscle biopsy is the only definitive method of

diagnosing mitochondrial disease. I've been on this list since was

suspected of the disease in infancy (I guess about 3 years) and that

basically summarizes what I have learned here. Many families have gone the

long route of other kinds of tests only to have a " suspected mito " diagnosis

and ultimately need the fresh biopsy. Others have purposefully foregone the

biopsy because they just don't see any point in subjecting their children to

it. We went with the biopsy and are very glad to have a defined dx. Even

though it doesn't affect 's treatment, our family is better

emotionally with a name and a rough idea of what is going on with Dan.

has had severe reflux since birth. He has been on propulsid (now I

think not routinely prescribed because of heart complications), prilosec,

zantac and is currently on prevacid. The prevacid has been great and other

than not overfeeding him, he is doing great. The reflux is REALLY painful

when left untreated. We tried taking him off for a while and it was

unbelievable what he went through. ( is nonverbal so it took a while

before we thickheaded parents realized it).

When has any kind of virus or infection (not necessarily GI), he

vomits more. Vomiting was an early sign of something awry with him. The dx

of cyclical vomiting syndrome was considered with him but ruled out.

Also, not exactly GI related, but has very poor growth. He eats a

lot of calories but gains very little. He is 3 1/2 and weighs 23 1/2

pounds. So far, no indication for g tube placement although the topic comes

up periodically.

We were really happy with mito specialist, Dr. Shoffner, in Atlanta. But, I

understand he is not seeing patients right now. Very frustrating . . . . I

suppose if we were still dx searching, I would go see his partner who is

seeing patients. But, I have heard that patients don't like him as well

(the name starts with a K???).

Well, sorry for rambling. I wish you success with the search and hope our

experiences are relevant.

Lori, (3 1/2 with complex I and IV deficiencies)

New Here and Carnitine question

> >

> >

> > > Hello everyone. My 5 yr. old daughter has a suspected

> mitochondrial

> > > disease/undiagnosed genetic syndrome. It has been a rollercoaster

> > > ride since she was born. has been seen by many

> specialists

> > > over the years. She had extensive biochemical genetic studies

> done

> > > in May of 2000--we were told these were all " with in normal

> limits "

> > > This past July we had a clinical genetic follow-up visit--she had

> > > extensive testing done at this time--fragile x syndrome, smith-

> > > magenis syndrome, telomere fish, to name a few--everything normal-

> -

> > > the conclusion--a genetic syndrome undiagnosable at this time.

> > > Uncomfortable with our answers or lack of answers, a very reliable

> > > person suggested we have a " new set of eyes " evaluate our

> daughter.

> > > Which to make a long story a little shorter brings us up to

> present--

> > > she is having her medical records reviewed at a different

> > > institution, during this review it was found that her urine

> carnitine

> > > level done in May 2000 was actually 10 times higher than what it

> > > should be, her plasma carnitine was normal, this was never

> addressed

> > > back in 2000--we were told everything was fine. The physician

> > > reviewing her records is having her repeat the urine studies. He

> > > would not speculate on his thoughts regarding the significance of

> > > high urine carnitine only that it could be indicative of a

> > > mitochondrial disorder. So I thought I would pick the brains of a

> > > group who also knows first hand about these disorders.....What is

> the

> > > significance of high urine carnitine with normal plasma carnitine?

> > > Thanks so much for listening...any info would be greatly

> appreciated.

> > >

> > > Randee Bates mom to age 5, macrocephaly, hypotonia, short

> > > stature, mid-face hypoplasia, high arched narrow palate, mild MR,

> > > PDD, gastrointestinal issues,history of seizures(off meds for

> several

> > > years now) beautiful little ballerina, princess!! also mom to

> ph

> > > 10 and Kerri 8, wife to Dru--my bestfriend

> > >

> > >

> > >

> > >

> > > Please contact mito-owner with any problems or

> questions.

> > >

> > >