October 11, 2011
Happy fall, ya'll! What beautiful weather w have been blessed with lately. I hope that you are experiencing it as well. Will has concluded his participation in the Natural History Study of Sanfilippo. What that means is that they just wathced and tracked the progression of his disorder over a years time. He was evaluated a year ago, returned 6 months later and just finished up the final visit. We met with the doctors and therapists in Minnesota. Will was subjected to cognitive evaluations and a sedation for n MRI, LP (spinal tap), blood and urine draws and hearing tests. He declined in his overall function including speech and fine motor skills. This is what one would expect given the nature of the disease. It is progressively degenerative. He still is happy and healthy, other than the fact that he has this disorder. he continues to show so much love and a beautiful spirit. I so wish that I knew the full Will...who he could have been, what he could have done. He is so sweet and loving, I know that he would have made a spectacular....something! We love and cherish the Will that he is but I long to know the Will he could have been.
We do hope that this study will produce a treatment in the near future. I believe Will may be too far regressed to participate but I think that what we have offered will continue to be helpful in the quest for a viable treatment. Many promising treatments are on the horizon. We are still hopeful that Pfizer, that purchased Zacharons compound, will have something soon. The French foundation, Alliance Sanfilippo, has funded a stem cell transplant trial that was to begin in September but has been delayed. Also the Gene therapy that we helped fund with the Pespi money, Ben's Dream has been funding Dr. Fu in her quest for years, we hold out hope that she will be granted a human clinical trial in the near future. Also, we are trying to screen the FDA library for an approved drug that we could possibly use now to keep our children healthy enough to participate in any of the trials for the near future. It all takes time and time is the one thing tat we do not have...
Nicole continues to impress us all with her continued loving support for her brother. She began a new school this year. I had not wanted to burden her with raising awareness to her new peers. I removed my magnetic signs from my vehicle which read "Please help save my son ww.miracle4will.com" and I did not inform the teachers of our home life, except for one, who had been extra friendly to us. Nicole began her school career. She was given the opportunity to sign up for clubs. One of the clubs she signed up for is a service club. I assumed they already had a community service in place. On her first contact with this group they were asked for suggestion for any ideas of places or foundations that were in need of service. Of course, Nicole without pause, told them about her brother and our plight, she makes us so very proud.
We look forward to a wonderful school year and holidays that are just around the corner. Please remember to be kind to those you meet. You never know what burden or crisis another may be facing. We all really need to treat others as we would like to be treated. As always, thank you for checking in on us and please continue to pray for a cure.