Progressive vision, hearing and muscle loss

[Guest guest]

Our son has been sick since he was 5 months old. He started

with loosing a major milestone.(holding his head up while in the

prone possition) We started right away with pt,ot,and speech

therapy. He was always sick with upper resp. infections. We found

out he had a thyroid dysfunction while he was undergoing testing for

growth hormone testing. His growth hormone was also low. He has

been pretty healthy as far as upper respiratory inf. since on thyroid

meds. He has been on growth hormone for years and off and on again.

He has been diagnosed with a rare kidney disease, that cannot be

treated by meds or diet. His hair is still not growing. His bowels

are in the " wrong possition " either high or low and their is some

twisting. Not enough to do surgery the doc told us.

is not walking due to balance issues, has a stomach tube

because he was malnurished. He never ate. The gastro guy said for

years, it was because of " behavioral issues " . We tried everything he

suggested, to no avail. So while his hair was falling out, his teeth

were chipping, and he was not growing even with the growth hormone,

the dr. insisted it was a behavioral issue. It was then I found out

about getting a second oppinion. Thank God I thought at the time.

We decided to do the Stomache surgery, and he has not yet recovered.

It was July 2003 when we had the surgery. We went through formula

probs, because of all the fluid his kidneys could not process it. We

finally changed to a renal formula, and his kidneys are doing fine

with it. He has had trouble with vomiting, and diarea though. The

dr. gives him meds for nausea, and it just comes out the other end.

has had so much testing and blood, urine, muscle biopsy,

several MRI's, CAT scans and fibroblast testing for cokayne sydrome.

Found out he has innercranial calcifications including the basal

ganglia. Also some of the gray? area of the brain. We were then

diagnosed with something I don't remember and we did'nt meet 3 of the

major criteria.

This child has had 7 surgery's in his young 10 just turned 11 year

life. I feel so bad for putting him through these surgery's, and yet

it was so right at the time. He has retenal atrophy (macular

degeneration) and has 20/70 vision 20/40 corected with glasses. This

disease is progressive. He also has 50% hearing loss in both ears.

This is also progressive. He is supposed to undergo a scope to see

why he is throwing up all the time. I think our children are telling

us something when their body's don't eat. I think his little body

just could not have processed the extra calories. And then when we

force his body to take the calories, it just is not right. The

stomache tube is great for medicine though. Also we put him through

surgery for both of his feet. Both heel cords released and a tendon

transfer. He will probably never walk anyway. So why did I agree to

do this? He had both legs in a cast for 6 weeks. He now has walking

pneumonia. (I think from just sitting and not moving around like he

was before) He could at least crawl a little before. Sorry for

dumping, I just have been questioning my motives, and was advised to

call hospice for him. He is completely dependant on us for

everything. He has lost bladder control, and has had a lot of muscle

atrophy. I thought I was alone, Thank you all for responding to my

question. Debbi Beck