Re: (CAROL)Re: Introduction - Marie

[Guest guest]

Hi Marie!

When things settle down for you...hopefully next week(?) then I would raise the roof with PC....Like I said....they paid for everything...the Carnitor and all the other supplements. Perhaps the prescribing dr. can call the pharmacy review dept. there. Our prescribing dr. is Dr. Kelley who is with Kennedy Krieger in Baltimore but is also a Pennsylvania licensed physician. I have a copy of a letter he sent PC outlining why they should pay for it and I would be more than happy to send you a copy so you can start the battle. It's just way too much money to pay, especially if there's more than one to take it!

Yes....we see Dr. Mena Scavina at the MD Clinic at DuPont. We've been with her for 4 1/2 years looking for a diagnosis. Neal was tested for EVERYTHING....This summer, because he kept getting elevated lactic acid and 3 methlyglutaric acid levels they tested him for Barth's Syndrome. While waiting for that test to come back, I contacted the Barth Support group on the net and shared some of Neal's developmental history and lab results. The woman I was dealing with shared the info with Dr. Kelley and he called me....! Neal turned out not to have Barth's but has what Dr. Kelley calls Mito PDD. Dr. Scavina was reluctant to say the least to accept a mito diagnosis for Neal because he doesn't "look like" a typical mito kid. Of course, she was not aware of some of Neal's PDD type symptoms. Neal had hypotonia, ataxia, fatigue, hypothyroid disease, hypomobility of joints. cyclic vomiting and sensory integration issues. I am so lucky I found Dr. Kelley. The effects of the mito cocktail have been nothing less than remarkable for him. His muscle tone and fatigue have improved so dramatically that he has discontinued both PT and OT. I am awaiting a response on my older son's labs although my very unscientific comparison between his levels and my younger son's levels are almost identical. Dr. Kelley was eventually able to convince Dr. Scavina that Neal, in fact has mito. They also believe that Neal's hypothyroid disease is a direct result of mito and within the next few months we will be challenging they thyroid meds to see if in fact he needs them.

I think you will find that this mito group is a unbelievable resource, both emotionally and educationally. This is a terrific group...On those days when I feel like burying my head under the covers and crying, I get on here and vent my worries and frustration and the support I get really gives me the courage to push ahead.

I have blasted Neal with therapy since he was 18 months old, including speech, PT, OT and Music Therapy. In April, after the encouragement of one of Neal's PTs, he began horseback riding. That....has been amazing. I wanted to get into equestrian therapy program (like Thorncroft) but the wait for a slot was over a year. I started with regular lessons and he has just blossomed. In fact, no one knows that he is disabled at his barn...He started competing at small shows and has even won a number of competitions. I splurged a month ago and bought him his first horse. Not only has the riding improved his coordination and muscle tone it has also given him a great degree of satisfaction and accomplishment. He will be start competing in the Chester County Horse Show circuit in the Spring and his dream is to ride at the Devon Horse show sometime in the future.

Any help I can give, particularly with the BS involved in getting coverage I will gladly share my war stories...lol. Please know that you have joined a group which is big family which will support you in your family's journey.

If you would like to correspond privately, please email me at cbach@... and I can send you my phone number and I can send you the letter I referred to above from Dr. Kelley. BTW...I live just outside West Chester, PA.

Looking forward to seeing and hearing from you!

Carol DuPont