>So, I took the plunge today and decided to try to contact Dr. Miller, the endocrinologist in Florida who specializes in PWS and I am so glad I did!!!! While on hold I was concocting in my mind the message I was going to leave on her voice mail, imagine my surprise when Dr. Miller actually said Hello!!! I never imagined I would actually have the opportunity to speak with her right away, nor did I think I would end up having a 45 minute conversation with her!! SOOOO appreciated and uplifting!!
Dr. Miller is 1 of 3 or 4 Endocrinologists that specialize in PWS in the country. She has seen about 350 PWS patients… she said about 95% of the patients she has seen are in regular classes in school and attend college!!!!!! She said there are an estimated 4000 people diagnosed with PWS in the US!
We first discussed the Sleep Apnea and studies being done. She said to prop Siena up on her side and that should help with her breathing, as it is mostly due to a floppy airway. I sent her the Sleep Study Report, so she is going to take a look and let me know her thoughts, however she said that CPAPs are generally not the easiest thing to get babies to use. (I think we all can pretty much agree with this after our experience over the past week with trying to get Siena to use it) Dr. Miller said that Sleep Apnea will usually improve greatly with the use of Growth Hormone. We are seeing an Endocrinologist at Dupont in June and if she will not put Siena on GH or has questions, Dr. Miller said to contact her immediately. She said there is so much new research that many doctors are unaware of…
The next topic was what therapy Siena has been undergoing and Dr. Miller said everything sounded great, except she would highly recommend a Speech Therapist.
We then discussed Siena’s seizures… she said that she can be almost 100% certain that the episodes we see during feeding are NOT seizures. About 15-25% of those with PWS (and more commonly in UPD population) have a Carnitine Deficiency http://www.umm.edu/altmed/articles/carnitine-l-000291.htm
She said to give Siena the prescription supplement and that we will likely see a change in her within 24 hours!!!!!!! I gave Dr. Miller’s phone number to Dr. Telford-Wren (upon her approval of course : ) )
so she could talk directly with her about this and get Siena the right prescription. Dr. Miller said she can’t be certain about the episodes Siena has upon waking up, but we will monitor and see if those improve after we start the supplement as well.
Two other Supplements that she recommended are Fish Oil (Papa Bob will like that one!) and Coenzyme Q10. She said that around 18 months old many children with PWS need to have their calories restricted and that to combat that it is great to be using Fish Oil for brain development. Coenzyme Q10 might help with daytime alertness, and since it can be pricey she said to start the Carnitine first and see how that effects Siena… then down the road see if the Coenzyme Q10 improves on anything… it may or may not.
We also talked about the hip x-rays and ultrasounds that we are to have every 6 months. She said that once Siena is walking, and if it is normal – she sees no reason to continue x-rays.
I am still in shock that was able to speak with her directly on my first phone call to her!!!!! She will be at the conference in Orlando in November and will be having a clinic for new patients on the Monday after the conference… we will hopefully be acting on GH before then, but just in case, this is an option.