Mickey/Lisa - Mito Dr. ?

[sugarsue]

Mickey and Lisa, today I went to see Savanna's neurologist for our checkup for her seizure meds. I brought up the subject of mito issues. He said he would refer me to Dr. Shoffer in Atlanta if I wanted. He said he's done all he would do on his end for that and didn't have anyone else in Charlotte that he knew of except maybe one guy at the University.

How do I know if I want to be referred? We'd have to go to Atlanta for our visits. Is the only reason to go to get a biopsy for testing? Would seeing him mean automatic biopsy? Are there other things he can offer, testing, treatment, etc. that an in-the-know DAN! doctor or Pedi Neuro wouldn't know? I still have more conversations to have with our new Pedi and neuro. We see the Pedi at the end of this month and the new neuro in December. I don't know that I'm ready to do a biopsy but of course I have a lot of questions about everything.

Savanna has been getting in trouble since school started because she can't keep her hands or feet to herself and she bit a kid today. I am sending all her sensory stuff tomorrow (heavy ball and weights, brush, putty, stuff to chew on). I hope she can adjust!! That's just a side note though. I'm also trying to figure out why she is having impulsive troubles again!

Susan

[LandB]

Hi Sue, Mickey's the Dr. Shoffner expert but my reaction is, if you can get in with him, go for it! Maybe I think that just because I hear so many people complaining about not being able to get in with him. I know he's selective about patients and I seem to remember Mickey saying that even a referral is no guarantee that he'll take you.

From what I hear from other parents, he is a muscle biopsy guy and doesn't want to spend time trying different approaches, talking about options, etc. But Mickey can fill you in better on his approach; I could be wrong.

I am glad that your neuro is at least taking it seriously!

Lisa

[mickey2]

what lisa posted is true. he would not even schedule an appt with us until he had reviewed all 5yrs of ds medical charts from all his docs/hospitalizations/tests/labs, etc. if he doesnt think its mito, you will not get an appointment. for us, the process was quick b/c he has an interest in kids dx'd with autism who have a regression hx. also we have the thyroid nd cardiomyopathy issues in my family. he gave us the option of a biopsy and we chose to do one.

im a fact person and need evidence to support theories. it was one thing to wonder if dh and i were crazy for thinking he might have mito...it was a relief to get it confirmed and have more a game plan and more answers to all his weird responses to things over the years.

he is also more of a lab rat and sees you initial consultation, then does biopsy. after that you typically will see his partners. there is also a ronald mcdonald house near his office that out of towners stay at. of course, our home is always open to any on this bb who travel to see shoffner.

having the dx also gets us more respect from mainstream docs when we tell them ds takes a mito cocktail vs is on a biomed protocal even though they are very similair. the main diff being carnitine and coq10. so far he is pretty stable...but in our local mito group there is a teen girl, was track runner, cheerleader/dance, etc that didnt show any signs of mito until age 15and within 4months was confined to a wheelchair.

i like knowing what we might have to face in the future to better prepare. but thats me....hope this helps

[sugarsue]

Thanks guys!

It is very helpful info... I have a dr. appt for Savanna on Monday with our new Pedi, will probably have a few between now and December when we see the new neuro. I think I'll wait and make a decision on whether to TRY to see Dr. S. until then. Right now, I'm obsessed with the fact that I think Savanna has celiac disease. We are getting the blood test on the 15th. When I read up on it, everything seems to point to that. But I imagine the test will come back negative and I'll be back to where I am now.

We shall see.... Thanks for your mito input, very helpful for me!

Susan

[sugarsue]

Ps.....

Dr. J helped me to feel so much better about the mito stuff. He did a good job of explaining some things and about the difference between the disease and a dysfunction. Now that I have the gluten free thing to keep my occupied, I will not worry as much about the mito stuff, continue with the cocktail and see how GF helps.

Susan