I have put up a small photo album from the post CTX meeting at Ron and Paula’s house. You can get to it by clicking here. Also some folks have been putting some effort into finding alternative CDCA sources by looking into local compounding pharmacies. Donnie Purvis reported that his local pharmacy is looking at $800 for a 3 month supply. That will obviously not work for us, it’s simply too expensive. I have had some correspondence with Jim Bona since the meeting and he suggested that we wait until his office along with the ULF has had a chance to iron out details with the discussions that they’ve been having with various pharmaceutical reps. We have spoken with Paula and they should have some information very soon about the next steps in obtaining the medication.
Ashley is currently participating in a research study conducted by Dr. William Connor, one of the physicians who attended the CTX meeting. You can read about it here:http://www.clinicaltrials.gov/ct/show/NCT00004346. She has been in the research clinic since last Sunday, the 8th. Angie stayed with her this week while I stayed at home with Jacob. I relieved her last night and spent my first night here last night. I’m sitting in the hospital bed as I write this.
She has had her diet carefully controlled and monitored and has had many tests, including a spinal tap yesterday. Other than a little pain at the injection point she did great. She was quite nervous about it as she didn’t know what to expect. I suspect it won’t be her last one so she is better prepared now for when it comes her way again. We get to go home tomorrow after which there will be some significant dietary changes such as switching to fat free dairy products and limiting fat intake from other food groups. It will take a fair amount of adjusting but there’s no doubt it will be good for everyone in the house from a health standpoint.
While Angie was here at the research facility, she met a Doctor Robert Steiner who is an Associate Professor for the Pediatrics and Molecular and Medical Genetics, theVice Chair for Research, Head-Division of Metabolism in the department of Pediatrics of Doernbecher Children’s Hospital at Oregon Health & Science University. He spoke to Angie about newborn screening and mentioned that his research team are working on or are very interested in pursuing research on newborn screening for CTX. As we all know early diagnosis is crucial in CTX and if this becomes a reality, the number of lives improved will be a huge benefit. He has contacted Paula at the ULF in order to discuss a plan for making newborn screening for CTX a reality. This is great news!
Angie and I leave Wednesday morning to fly back to Dekalb for the annual ULF meeting. It’s going to be a lot of work and a great learning experience for us. We are excited to meet all of the families and Doctors and learn more about the Leukodystrophies. I’ll post a report when we return.