We received excellent news last week at Siena’s appointment with Dr. Bardsley, the endocrinologist from Nemours. Because the sleep study in September indicated that Siena’s sleep apnea no longer exists, the doctors are going full speed ahead to get her on Growth Hormone. The endocrinologist put in the application for it last week and now we just have to wait for insurance to approve. We will then receive a shipment at our house, and at that point we schedule an appointment with Nemours in Philly so they can administer the first dose and teach us how to do it ourselves. We were told this whole process will take 3-4 weeks.
Once Siena has begun GH, her blood levels will be tested every 3-4 months and we will need to repeat another sleep study in about 3 months as well. It will be extremely important that we monitor Siena’s diet and weight gain as the risk of diabetes is a huge concern for people with PWS. This means a high protein, high fiber, low carb diet. (which, realistically, is going to benefit all of us ! )
We discussed Siena’s hip x-ray results with Dr. Bardsley and she would like to see Siena have these done less frequently. She said she will only need to do them once a year and most likely they will x-ray her hands for bone development instead of her hips. She also noted that she saw no asymmetry in Siena’s hips, as was not the case back in March when Siena’s was first diagnosed with PWS. She said we will also need to check for scoliosis more frequently, because GH can expedite this characteristic found in many with PWS.
Siena’s stats at this appointment on 10/18 :
16 lb 8 oz, 2ft 2in
head circumference – 17 3/4 in
We also saw Dr. Gottlieb, Siena’s neurologist, last week. Siena had gained 2 lbs since her last visit there in July!! He was excited to hear the developments on the Growth Hormone. He looked over sleep study results and noted that there was no seizure activity recorded during the study, which is also excellent news. He would like Siena to have another EEG, as well as blood test – so we will do that when we do GH labs in 3-4 months. We will see Dr. Gottlieb again in 3 months.
There was also fantastic news for the PWS community as a whole this month, as the Children’s Rare Disease Network received a donation from RemedyMD® of its RegistryOnDemand™ product specifically created for rare disease research organizations. In turn, the CRDN announced a plan to give this research registry tool away to one lucky winner via an online video contest. That lucky winner is the Foundation for Prader-Willi Syndrome!! READ MORE and watch the winning video here http://remedymd.com/RareDiseaseContest.php. (get out the tissues!)