Concerning symptoms..feedback needed

[Guest guest]

Hi all :-)

I am mostly a lurker here, but appreciate all the insight, support and

encouragement that you all share with each other. I have three

children, two of which have issues that we suspect may be mito and are

in the process of doing some initial testing for, as we have exhausted

most other testing for other answers. Both children have neurological

issues (son-7- is dx'd with High Functioning Autism/seizures/learning

disabilities/CAPD and SID(DSI)....daughter-almost 4- is developmentally

delayed, SID(DSI)and has delayed myelin on the brain) and my daughter

also has something wrong with her muscles that includes hypotonia, mild

weakness globally but more severe on the left side, and decreased to

absent deep tendon reflexes (some *think* they feel something) in upper

and lower extremeties. She also has a leg length and size discrepency

(mild) of the left leg. Muscle biopsy a year ago (frozen, no

respiratory chains looked at) showed Fiber Type I Predominance and some

questionable changes in the mitochondria that was chalked up to

artifact. Developmentally, Madison has continued to improve and we were

beginning to relax a little bit about her issues.

In April though, two things happened at virtually the same time....she

began walking less and less (asking to be carried or ride) complaining

more and more of leg pain (mostly at the knee and ankle joint, but the

whole lower half of the leg seemed to be involved), and her eating

habits changed, going from being a mouth stuffer and eating well and in

a reasonable amount of time, to taking very small bites, chewing for a

very long time, and eating less and less over an extended period of

time. Both of these continued to progress, and by July she began having

some problems with drinking also. About every other day or so, she

would take a drink of something and would cough and sputter and have it

come out her nose. Up to this point, I was not too concerned about the

change in eating, knowing we had been working on this very thing in OT

because of the sensory nature of the need to stuff the mouth. However,

when the drinking started being a problem somewhat consistently, I

became concerned and talked with our ENT about it (Madison had tubes put

in because of chronic fluid and had her tonsils and adnoids removed last

spring). He was concerned and scheduled us for a swallow study, however

there was a mix up and they instead scheduled her for an upper GI. We

almost did not go through with it since she has no signs of reflux, but

because she was cooperative and didn't seem to be bothered by the test,

we went ahead with it. To my surprise, she has mild GI reflux, although

we still have yet to ever see any symptom of it, and she never even spit

up as a baby. The following week we went through the swallow study we

were to have originally had done, and it showed mild nasopharyngeal

reflux (reflux from the mouth to nasal area) and mild velopharyngeal

insufficiency (flap at the back of the mouth not working as well as it

should). Thankfully she is protecting her airway, so we were told to

just watch this. We were referred to a GI doc regarding the GI reflux.

Since August, the eating and drinking issues have continued to

progress. While she is having problems with refluxing her liquids less

and less, this is in large part because she is drinking less and less

(now less than 24 ozs a day with too few wet diapers a day). Eating has

slowed down to her only taking 2-3 bites per meal, taking her 30 minutes

to accomplish this. We are allowing her to graze all day and this is

helping to maintain her weight, but we are not having any luck with

getting more liquids into her. We saw the GI doc last Friday and he is

admitting her in the next week to do an esophageal scope and a pH probe,

but strongly suspects this is neuromuscular in nature, rather than truly

GI reflux. He also talked seriously with me about my preparing myself

for her needing a G tube soon.

Other issues going on right now are that she is sleeping more and more

poorly, sweating off and on during the night, snoring again, mouth

breathing, and all over the bed through out the night. She is also

becoming more and more irritable and cranky, and is now only walking

about 20% of the time, and is still regularly complaining of leg pain.

I suspect she is in pain most of the time and only complaining when she

is hurting alot. She is also trying hard to potty train right now

because her younger sister is doing really well with it, however her

success is very very hit and miss and she doesn't seem to know how to

" push " , nor does she seem to really feel when she needs to go. Her

neuro had suspected she had a Tethered Spinal cord because of this, her

leg length and size discrepency and walking less and less, and because

of a birthmark on her lower back, however her spinal MRI came back

normal, so this is less likely the cause.

We have seen our ENT, pediatrician and an orthopedic doc this last week

trying to figure out whats going on with her, and everything looks

normal, and all suspect this is neuromuscular in nature. We are waiting

to hear on a bunch of blood work they just did on Tuesday and the GI

testing will be sometime next week. Everyone is really stumped.

Has anyone else dealt with something similar to this??? Anyone have any

ideas on what might be happening, other than something neuromuscular

that we could check into??? If this IS mito related, what are the

chances that these issues are going to get better eventually??? And

finally, is anyone else dealing with a child in pain, and if so, what

kinds of things do you do to relieve it for them??

Thanks so much for any insight anyone might have. I am desperatly

trying to find some answer for all of this that we can actually work

with, but am scared we are sliding down a slippery slope and these

things may not get better. Really need some ideas right now.

BIG hugs,

Kass, mom to Chance(7-HFA/CPS/LD's/CAPD/SID/mito?), Madison(almost 4-dev

delays/hypotonia/delayed myelin/abnormal muscle

biopsy/GER/NPR/VPI/SID/mito?), and Abby(2 1/2-too typical for her own

good)