Ruth - muscle weakness

[Guest guest]

Hi, Ruth -

If you look back in the archives, you can get a more detailed accounting of

what we were facing early on with my son . The big thing I want to say

is that none of 's doctors felt that he had any signs of major muscle

problems; some of them didn't even feel he had metabolic difficulties. He

did have mild motor delays, and really still attained his motor milestones

just barely inside the average range. But you cannot look at his arms and

legs, for instance, and see anything other than what looks to be a normal

set of arms and legs! 's doctors were somewhat reluctant to send him on

for a muscle biopsy, too. However, definitely had signs that indicated

the appropriateness of having a muscle biopsy. He had failure to thrive by

the time he was two months old despite having been 8lbs, 5oz, at birth. He

had pretty nasty fasting intolerance that resulted in generalized tonic

clonic ( " grand mal " ) seizures when his intake was severely compromised by

illness. He had terrible reflux with erosive esophagitis. He had chronic

projectile vomitting and diarrhea. Our family history included one person

with an unexplained seizure disorder, several people with diabetes, one

person with Alzheimers, several people with chronic migraines, one person

with thyroid issues, one person with early unexplained heart disease, one

unexplained infant death.

I am not sure if you have seen it, but Exceptional Parent put together a

special series on mitochondrial and metabolic disorders that includes a

primary care physician's guide and an issue for parents. In the physicians'

issue, there is a section on deciding when to refer for diagnostic testing.

It says that a child is at high risk and should receive aggressive attention

if he or she meets any of the following criteria: 1) seizures or failure to

thrive prior to age two, 2) severe, unexplainable developmental delay, 3)

other metabolic symptoms (there is a table listing symptoms-seizures,

developmental delay, weakness/hypotonia, increased anion gap/acidosis,

retinopathy, unusual mri findings, recurrent or cyclic vomitting or reflux,

fasting intolerance, etc etc), or 4) family history of metabolic symptoms

(another table listing muscle or brain disease, unexplained hearing loss,

unusual heart disease, dev delay or regression, epilepsy, SIDS, diabetes,

Parkinsons, Alzheimer, unexplained illness or death).

Despite the fact that every pediatric subspecialist in town told my

pediatrician that they did not think that 's troubles were metabolic in

nature (one even told her that she had ruled out mitochondrial disorders

based upon normal metabolic screening), our pediatrician referred us to

Atlanta for a consult to see if they would recommend a biopsy based upon the

" Deciding When to Refer " article that I took to her. I used a highlighter

pen to call attention to everything that fit 's case.

In addition to abnormal enzyme assays at complex I and III, 's biopsy

showed definite subclinical signs of muscle disease (atrophy) that even

today is not readily apparent in a visual examination of 's legs. There

was mitochondrial proliferation and more (I cannot do it by memory any more

.. . . if you want more info, I will happily get out the report and tell you

more about what they found.)

Good luck -

BTW, that Physician's Guide is available at the UMDF site (at least it used

to be). If you cannot find it, let me know, and I will help you find one,

or send you a copy of mine!

Kathy

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Message: 16

Date: Wed, 15 Aug 2001 00:35:59 -0400

Subject: Query on muscle weakness

Hi all--

I've been quietly lurking for about two months, and I guess the time has

come for me to post. I'm mom to , age 2 1/2, who is 19 pounds and

subsists mainly on a diet of half-and-half and cookies which is all she will

eat.

has been seeing a metabolic specialist in Boston (New England Medical

Center) for the past nine months or so by the name of Dr. Ampola. Dr.

Ampola has done many tests, which I won't list out here (at least not

tonight!), and we've gotten mixed results; aside from her feeding issues,

has some of the more unusual signs of mito disorder but not as many of

the common ones.

One of the tests has not had is a muscle biopsy, and my problem is

that I would like to have that done ASAP but Dr. Ampola is resisting it for

some reason. She says that there's no point in doing it because does

not show any signs of muscle weakness or fatigue (which is true), and thus

she believes it would be reasonable to assume that a respiratory chain

defect would not show itself in a muscle biopsy because her muscle tissue is

not being affected by her mito disease (if she has one).

From what I understand, this is an incorrect assumption. Aren't there cases

of children who do not exhibit muscle weakness by the age of two but develop

it later? Surely if there are adult-onset versions of mito disease, there

are also cases of some children who develop certain symptoms later than

others? When I suggested this to Dr. A, she said that that was not likely

in her experience.

Are there parents or patients out there who can provide me with evidence

that I'm right? Or is there someone out there who can affirm that Dr. A is

correct? I want to do the right thing, WHATEVER that is--and if there's a

chance that the muscle biopsy would give us some answers, I want it done.

NOW! I would like to have a short stack of tales of children who developed

muscle weakness after the age of two to give to Dr. A the next time I see

her, if there is a short stack of tales out there. Circumstantial evidence

is better than nothing.

Thank you all in advance for any help you can give, and for being here in

this forum to make me feel less alone! I'm getting to know some of your

names and stories now, and have seen many of your websites--and you've

already saved me from at least two horrendous blunders.

Cheers,

Ruth, Mom to (typical six) and (possible mito)

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Message: 17

Date: Tue, 14 Aug 2001 22:17:33 -0700

Subject: Re: Query on muscle weakness

Hi Ruth,

Welcome! I don't have any real advice regarding a muscle biopsy,

sorry. had that and a skin biopsy and those both came back negative.

I did want to comment on 's weight. I'm really not trying to " jump " on

you here , but hasn't anyone suggested a g-tube? 19 pounds at 2 1/2 years

is really bad! My kids weigh near 50 at 10 and 11 years and that is skinny

enough! Could any of the " unusual " signs of mito (could you elaborate?) be

related to malnutrition? I realize I don't know the whole situation, but I

definitely think a trip to the GI would be in order.

I hope I haven't come across too critical, that wasn't my intention.

Again, welcome to the list!

Sue & Jack-worn out parents to the greatest kids on earth in Las Vegas, NV-

11 & 9-Both w/Leigh's Disease (?), MR (mild), g-tube,

w/fundo, larynotracheomalacia, trach, vent 24/7. Visit us!

http://u2.lvcm.com/jscb

> I've been quietly lurking for about two months, and I guess the time has

> come for me to post. I'm mom to , age 2 1/2, who is 19 pounds and

> subsists mainly on a diet of half-and-half and cookies which is all she

will

> eat.

>snip<

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