Re: Contact info please/Anne R

[Guest guest]

Thank you for the information. I am sorry you had to get that diagnosis, but it sounds like you have lots of people and docs to help. Good luck to you and your family!

Re: Contact info please

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) Please contact mito-owner with any problems or questions.