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You guys have been an amazing source of knowledge to me in trying to sort out our metabolic issue. Today we were referred by our nephrologist to a different genetic metabolic specialist Jim Gibson in San Antonio. According to our nephrologist he's the best in Texas but I really have no clue. Anyone have insight. Do you know of any good genetic metabolic specialists within 2-3hrs drive from Austin? Our nephrologist really thinks we need a second opinion and someone who will actually bring up a muscle biopsy and isn't of the opinion that "she looks good so she must be healthy".

Secondly, anyone here with experience with growth hormone therapy? We saw the endocrinologist today after the nephrologist had a mini heart attack at the fact that we haven't been growing for months yet the endocrinologist wouldn't see us until February. Having fixed all of the underlying causes we are aware of that could create the growth retardation, she feels like we need to start GH by December. I am very torn in this decision. I can definitely see the benefits. Dd has a lot of developmental delays, lung problems, bone problems, all of which could be helped tremendously by actual growth. But on the other hand, I don't like the idea of shooting my daughter full of man-made hormones daily! I need to talk with someone who's been through this before. The endocrinologist was very sweet but extremely concerned that we can't seem to get an exclusively g-tube fed kiddo to grow.
 

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I hope Katie sees this. I know she was very frustrated with what was available in Texas metabolic wise. She ended up seeing Korson in Boston. I know that isn't encouraging...maybe she hasn't seen this particular one. I'd join a yahoo group (there is a large mitochondrial one) and ask if anyone knows of someone good within that drive distance. Again, I know Katie would know so I hope she sees this.

The GH thing--do they know there is a deficiency? I guess so if they are recommended replacement but if not I can't imagine what that dr. is thinking. Admittedly, I don't have experience in that area. But I do know that growth issues are strongly tied to mitochondrial and other metabolic disorders. It seems to be that there are other explanations as you've not ruled out mito at least and likely not many other reasons metabolic wise too (has your child had a skin biopsy?) I'd not start replacing growth hormones that may not be missing just because a child isn't growing.

If you need a muscle biopsy you really want one at one of the three major centers that can do a fresh biopsy. Fresh is much better than frozen (well, I'm talking mito here which in my mind is a possibility for you). So you'll need to end up at one of the far away place for that (Atlanta I'd think would be closest to you). I wouldn't do a frozen local personally as I've seen to many people who ended up with no answer and had to then do fresh anyway.

I wish I had better news or a good suggestion.
 

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I remembered a family on another list with a child with idiopathic short stature and were contemplating growth hormones. I emailed her with a link to this thread. I hope that she can chime in. I have a few links about that if it might help. Not sure of your medical situation.



Pat
 
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