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I was wondering if anyone had any information on how we might could

contact Dr. Shoffner. Would he be willing to talk to me and give me

some information? Are there any other doctors you use that could

give us info? Where is the best place to go? Atlanta?

We have gotten the idea that our doctors think it is mito. and have

this attitude that there isn't much we can do for Caden. I know

differently. We have no diagnosis yet, but I would like to try some

of the vitamins and enzymes to see if they help Caden. Our

neurologist wants us to wait a month to even discuss the next step

when I know a month could mean a world of difference if it's mito.

Any information you have would help! Thanks!

Vicki, , and Caden: 7.5 mo. (GERD, laryngomalacia, slow

development, and " something else " BUT cuter than the Gerber baby!!!)

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Vicki,

Shoffner did Asher's muscle and skin biopsy (plus numerous other labs) all at one time this last January. My experience with him and his staff and the hospital he works with was fabulous (for a hospital!). The phone number is or www.horizonmedicine.com. Dr. Shoffner does not do phone conferences or consults with patients or their families. He only does them with drs. I know that this is hard, having recently received a dx of mito for my son, I want to speak with him and can't get to Atlanta right now, but, if he did do phone conferences/consults, he'd be on the phone all day. So, as hard as it is, he doesn't usually do phone conversations with parents. My suggestion is to call this office (the people there have been more than helpful). Typically, they want you to send all your child's records and then Dr. S will review them and determine if it makes sense to move ahead with a biopsy. Then, they will work with your insurance to try to get it covered. If you do go, you'll be able to stay at the Mc House right next to the hospital - the people there were also very kind.

Anyhow, we just got the report from Dr. S. It took longer than usual as there was a machine problem. It took 16 weeks to get the report. And, my son does have mito.

Good luck. I hope this helps.

Anne R - mom to Asher (3 yrs. old - mito, OXPHOS defect Complex III, possible Complex I defect) and to Sam (7 yrs. old - primary immune deficiency)

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