Hi All,
Saturday is Jonah’s 3rd Birthday! Last weekend we kicked off Jonah’s Birthday week at Grandma and Grandpas. Jonah talks about his cousins Faith and Jacob all the time, he loves them so much. It’s fun to watch them play, they get along so well. We invited another Sanfilippo family to have cake with us. The Vanderpools have two boys Jason 20 and Jon 24 with type B. This was the first time we got to meet the family in person. We have been FB friends for sometime now, they live very close to Jeremy’s parents. It’s awkward to admit that your thankful to have another Sanfilipo family close by. You don’t want anyone else to have to suffer through this this disease. Yet, I’m glad to have such an amazing family near. The boys are in really good health too, which is always wonderful to see.
The Vanderpool children were diagnosed a decade ago when there was virtually nothing in the form of research going on for Sanfilippo. Listening to their stories, of the struggle that they had to go through just to get a diagnosis gave me chills. Again I’m very thankful for our pediatrician Dr. Cao and for the advancement in science. Once they were finally pointed in the right direction and started the testing for MPS it took them 6 months to get the tests back confirming Sanfilippo. It took us less then a month.
The Rochester area has a lot of ties to Sanfilippo, the pediatrician who gave Sanfilippo the name Sanfilippo (after himself) was from the area! There have been several other Sanfilippo families from the area as well. Jeremy’s HS music teacher, Mr. Frost had a son who passed from Sanfilippo. The Vanderpool children were also in the same school district. When the Vandrepools were waiting for their test results to come back, they attended the funeral services for Mr. Frosts son. Mrs. Vanderpool took one look of a picture of Mr. Frosts son and new that the verdict of her son’s testings would come back Sanfilippo.
I continue to grow from the other parents, especially those with more then one sick child. I can’t feel sorry for myself and I would hope that others wouldn’t feel sorry for us either. We don’t need anyones pity we need your support and help. Mr. Vanderpool told a story of what it’s like to go grocery shopping, in his words “hunting and gathering”. The boys wonder around doing their thing, loudly babbling, grabbing groceries etc. People stop and stare, it’s annoying but people just can’t help themselves. Instead of getting upset and mad at the rubberneckers. Mr. Vanderpol would respond to his kids, like he knew exactly what they were saying. “Yes, Jason the line is long.” “I know they should have more cashiers.” and so on.
His story hit home, this scenario was one of the very first thoughts I had when the ramifications of the dx hit home with me. Jonah at the grocery store. I pictured him running up and down the aisles grabbing produce, knocking down displays all the while howling. This is why I immediately told everyone I could about Jonah’s disease. I wanted to teach and educate those around us that Jonah at some point might not be able to control himself. Again I’m very thankful that instead of loosing friends over the dx, we gained a lot of new friends. My neighbors have rallied behind us. Most people wouldn’t think that you could have such a sense of community in an urban area like Brooklyn. But it’s not the case at all. I don’t have to schedule play-dates, we just walk out the door and more often then not we run into a playmate.
Jonah will be starting preschool soon, we just found an amazing school a few blocks away, where he will be able to continue his speech therapy and socialize with the other neighborhood kids. I’m really excited for Jonah, I know he’s going to love it. I’m going to miss him like crazy. I have plans to bury myself in work, I’m ready to embrace becoming a full time fundraiser. I feel very confident that we will have a treatment for Jonah in his lifetime. We recently received a proposal for a gene therapy which is a collaboration between two of our investigators. The proposal was peer reviewed by half a dozen of our medical advisors. The feedback was fantastic. Our lawyer is working on our “gift agreement” as we speak. The project will start this fall.
Now we have three different mutation specific approaches in the works. Zacharon-Pfizer continue to get closer to taking their therapy to clinical trial. If all goes as planned in the lab we will have a gene therapy ready for clinical trial in a few years. Just in this past year two different gene therapies have been approved for type A and type B. We will be able to follow in their footsteps. Again I can’t feel sorry for myself, we are in such a good position right now. It’s the anxiety and fear of not being to fund our projects that has me waking in the middle of the night.
Meanwhile my hometown friends and family on the West Coast continue to rally around us too, they have been working hard on creating the event of a life time. “Raise a glass... and help a child.” Our 2nd annual wine tasting event is August 7th at Stoller Vineyards in Oregon. It looks like the weather will be perfect too. There will be lots of fun activities to do and wonderful people to catch up with. I’m really looking forward to getting out of this heat wave and head for the Willamette Valley. I can’t wait to share a glass of pinot with all of our supporters. By the way, the pictures on the side bars are all linked to interviews and information. Follow the link to our wine tasting event and purchase your tickets now, you can also listen to some of Isaac’s latest hits, become familiar with his songs so you can sing along at the benefit. (You have to scroll all the way down to see all of our links, sorry I haven’t figured out how to archive the previous blogs yet.)
One last thing. Jeremy started a new job after being off for three months. The show is called a “Gifted Man” be sure to watch for it. Neal Baer the head writer, was a pediatrician in his former life. Neal wrote an episode for ER that featured a Sanfilippo child. Fingers crossed that he writes an episode for his new medical show about Sanfilippo.
One more one more last thing. I'm also selling shopping passes for Macy's shop for a cause event. For a $5 donation you receive a shopping pass for 25% off. Use the pass on August 27th at any Macy's store. You can use the pass online or pre-sale your items the week before, if you can't make it into a store. Great timing for back to school shopping. The pass can also be entered in to win a $500 Macy's gift card.
We will have the passes at the wine tasting event in Oregon. I'll also be running around Park Slope, making drop offs from August 12-24th. Our sister in law Kelly is selling passes in the Rochester area, Jessica has passes for Oregon, Christi has passes in Wisconsin and our friend Justine has passes in Florida. No matter where you live send us an email and we will get you a pass. info@jonahsjustbegun.org
xoxo
Jill
