June 30, 2008 mcfadyena

The International MPS Symposium finished yesterday after four days of fascinating presentations, fun and emotion.

The International MPS Symposium finished yesterday after four days of fascinating presentations, fun and emotion. The research was unbelievable. There were presentations and updates in research on Genistein, Intrathecal trials in MPS I & II, CNS and the brain, findings in Enzyme Replacement Therapy, gene therapy in MPS III,  and much much more. All the major players (MPS Societies, drug companies, support workers) and doctors in the MPS world were there and we had a chance to pick their brains. And the families were… amazing. People I have known for 2 years online but never met, I got to hug and hold and laugh and cry with. I have a lot to share regarding research updates and family connections, but I will do all  this in another blog.
In the past weeks, we have received interpretations from Trey’s cardiology results. Trey’s valves have thickened a small amount. However, the good news is, the thickening is so insignificant that it does not affect the function of his valves or heart. In my lay person understanding of this issue, the problem with build up on and thickening of the valves is that once the values are thick enough, they do not close properly and therefore start letting blood leak back into the other chambers of the heart which taxes the heart and makes it work less effectively and grow in size.
Trey has also recently seen his physio (PT) and occupational therapists (OT). Overall, Trey’s joints are doing well and are maintaining their range, but his PT and OT are concerned about his right wrist and left elbow. We have an appointment in mid August to have a splint made for his right wrist.
In the past year, the MPS II Research Fund has given $44,000 to research. We want you to know that your donation is going into research, nothing else, and we also want to share the research with you because it is very interesting and exciting! If you have any questions or would like more details, please don’t hesitate to call or email.
I also want to tell you about something called the ‘Hunter Disease eClinic.’ A clinical fellow from the Hospital for Sick Children in Toronto presented on it at the Symposium and it is unreal. It is a training tool for for doctors and practitioners who work with kids affected by Hunter’s. Because Hunter Syndrome is so rare, many doctors and other care providers are uneducated in the nuances of this difference. This makes it difficult when we are sent to doctors who are experts in their field, but have no idea about Hunter’s. Often parents know more about how to treat issues than doctors. And since the storage of GAGs in the MPS’s affect the body so differently than other diseases, this resource is invaluable. I could go on about this. I was blown away. It is definitely worth checking out. Go to: http://www.sickkids.ca/research/lysosomalresearchgroup/
This doctor is now working on making eClinics for all the other forms of MPS.


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