Blog time! I figure almost half of Jonah’s supporters don’t know what a blog is. The name comes from the words web & log. To follow JJB’s blog and be notified by email as to new postings, add your email in the top bar and press submit.
Our trip to the UK was fantastic. No- we did not do any “conventional” site seeing. Instead we sat in the Hiltons lounge and conference rooms filling our already saturated brains with Sanfilippo treatment options. We got to meet several Sanfilippo investigators that we have only known by name and their research papers. I was lucky enough to be sat next to Grzegorz Wegrzyn, the Polish doctor working with genistein. He was able to give us some solid advice about dosages, if and when Jeremy and I decide to give this supplement to Jonah. Wegrzyn also knows of two other type C kids. He promised to pass along our info.
Jeremy held me back from having Fritz Wijburg autograph his paper. There was a line from his paper that I highlighted and tacked to my inspiration board. It says: "Although currently no effective therapy is yet available for MPS III, several promising developments raise hope that therapeutic interventions, halting the devastating mental and behavioral deterioration, might be feasible in the near future." If it wasn't for the fact that I highlighted this portion of the paper and drew hearts in the margin and wrote I LOVE YOU FRITZ! I would have had him autograph it. Fritz is the Netherlands doctor that also works with the type C foundation there. (The Netherlands has the highest, reported rate of type C kids.) http://www.kinderenenkansen.nl
BTW (by the way) if my relatives are trying to guess which side of the family the mutation came from, based on heritage, you'd think it would be from the Wood side. In fact it came from the Barrett side. Just the Barrett's should carrier tested. If you're a procrastinator or afraid of needles, then do your great grandchildren a favor and make sure everyone in your extended family knows of this disease and get it added into your medical records.The entire conference was a who’s who in Sanfilippo research, Jeremy and I were honored to be a part of the discussions. Three of our favorite investigators were there. Our first two favorites.. We had a somewhat private meeting with Brian Bigger and Alexy Pshezhetsky they sat down with Raquel, Jeremy and I. Alexy and Brian presented their proposal for our subtype C viral vector (gene therapy.) I was so overwhelmed with the thought and detail that they had put into our proposal. Not only was the science on target, they tailored it with the customer in mind JJB (a small mom and pop company.)
I wanted to cry and hug them both when I found out that Alexy went to the UK three days prior and stayed with Brian at his home. (I try my best to hold it together in front of our researchers, I did however have a mini breakdown when Brett asked me about Lyndsey Burke.)
Alexy and Brian spent three days (face to face time) brain-storming over our AAV. They are also collaborating with a third group, that will manufacture the vector for us. This group has just been approved in France for type A’s gene therapy clinical trial! To save on time, money and build on expertise, a portion of the work will be done in Alexy’s lab and the rest will be done in Brian’s lab. “Synergistic” was the word Brett Crawford used. Brett a.k.a. Zacharon was our third favorite investigator present. Brett of course couldn’t give us an exact time line for his clinical trial, but he gave me the name of the person to harass at Pfizer. This person just so happens to be the same person that was going to come to our patient population meeting, but had to cancel last minute because her kid broke his leg. I know she’s fully aware of who JJB is. I’ll wait until the cast comes off before I start calling her personally, plus our peer review board is already advocating on our behalf. Don’t think I don’t already have her # memorized.
I took the time to mention to Brett that if subtype C does not make it into Zacharon-Pfizers clinical trial. That I would personally hold him responsible. (That's when he sold out the contact at Pfizer.) Even after that terrible remark, Brett still emailed me and asked if our wine event was kid friendly? He's trying to work it into his schedule. Every little gesture he makes we analyze... if he's willing to show face at our wine tasting event in front of all those that love Jonah dearly, then he must feel pretty confident about his therapy. We found our fourth project while there too.
This was our first opportunity to hear in person about a novel therapy that’s currently being investigated by a couple of different groups. I think we have found a good match for our group to support. We will see after reviewing their proposal. I’ll refrain from name dropping anymore and boring you with the science.
Jeremy and I also got to spend time with our Sanfilippo friends from around the world it was great to catch up and discuss strategy. It’s imperative that we get this face time. Google translator and skype don’t always do the translations justice. In other news.. I did a lot of updating to the website over the 4th of July weekend (if you look at it today, I take full responsibility for all of the typos.) We're gearing up for all the heavy traffic that the website will be receiving from our Wine Event and international fundraisers. We also have several American friends and JJB directors fundraising over the summer.
While updating the website, I reflected on the the cost of the 3-4 projects that we have in the works plus our Natural History Study. Over the course of the year I have ran across to many people... that just don’t get that what we’re trying to do, can be done! 2-2.5 million will cover the costs of four research projects and our natural history study. After all that I have learned and seen for myself, I know that a drug company will pick us up. Once we drive the initial research and prove validity and efficacy, a drug company will cover the bulk of the expenses needed to bring us to clinical trial. What people don't know, is that investigators now know quite a bit about our disease, in part due to the human genome project.
A large majority of people are uneducated on today's break through science. They assume that since prevalent diseases like Parkinson's, MS, or Alzheimer's don’t have cures, then what make’s us think we will have a treatment for a little known of disease like Sanfilippo? One would think that because these diseases were discovered so long ago and billions of dollars have gone into research for them that they would be closer to a treatment then Sanfilippo. It’s not about prevalence and research dollars, it’s about the knowledge of the disease. For instance are they genetic or environmentally caused or both?
With Sanfilippo subtype C we know that its a genetic disease and we now know that because of a mutation occurring on chromosome 8, the body is unable to create enough enzyme to recycle Hepran Sulfate. Causing HS to store up in the body, killing off healthy cells. Because of this knowledge our researchers have a good starting point for treatment options. We can either fix the mutation, get the enzyme back into the body or try and remove the hepran sulfate. The problem for us is that we didn’t know until 2006 (when Alexy found the mutated chromosome,) imagine where we’d be if the mutation had been discovered in the 80’s!
Then there’s the fact that were an “ultra rare” disease, we haven’t been on the top of anyone's to do list...until now that is! We also have the added bonus of being an Orphan Drug disease. Like I mentioned before big pharma has been scrambling to make ends meet, now that their money making patents are expiring. Drug companies have to start looking elsewhere to make $$, orphan drug status is very enticing. It gives a drug company 7 years of exclusive patent rights. On top of all of that, we will have a newborn screening test out soon. We will be able to find these kids at birth (as long as your state adopts the test....that is.) So when I say we can do this, we can do this! We just need to get over the hump and raise a few million.
You can help us do this and have fun in the process. Tickets are on sale now for our 2nd annual wine tasting event. Can’t make it to the event but want to help....It’s also Jonah’s 3rd Birthday, you can make a modest donation on his “Birthday Wish” cause page. All the easy to follow links are on his website. Got to “Fundraising & Events” tab. Thanks so much for reading, sharing and supporting.
(Jill Wood, Jeremy Weishaar and Jonah Wood Weishaar)