The day after Jeremy and I received Jonah’s diagnosis, we hit the internet looking... looking for what I don’t know, everything we saw and read was so hopeless, I couldn’t stomach it. Then Jeremy stumbled across an old interview of the Siedman family. In it the Siedman’s were educating the viewers on the disease. Their two other children played with Ben in the background. Their oldest Noah, spoke about Ben- he was just a young boy but wise beyond his years. Noah spoke about the fundraising effort he was doing to help find his brother a cure. He was genuine and the love for his brother filled the screen. I thought if this young boy could rise to the occasion then so could we.
Then Jennifer and Stuart spoke about the foundation and the research, their narrative was the first glimmer of hope that I had.
In the interview we found out what Ben’s Dream was- to be a farmer.
When you’re told that your child has a fatal disease and they won’t make it to adulthood- one of the first things that goes through your mind are of the same thoughts you have when they’re born. What will he be when he grows up? You imagine all kinds of different scenarios for your child. Then you get the diagnosis and those thoughts play back in your head, thinking that they may not happen now is unbearable. Jeremy and I immediately stopped imagining what Jonah would be like when he grows up. After watching the interview I locked myself in the bathroom, away from Jonah’s site and had a long hard cry. I came out and said to Jeremy that we should follow the Siedman’s lead and create a foundation, Jonah’s Jut Begun was born.
I couldn’t find the exact interview that inspired JJB. But this one is just as inspiring, it’s a compilation of interviews. If you know Jonah personally you will find the similarities in Ben and Jonah uncanny watch on and you’ll see the progression of the disease; then you’ll find it unnerving. http://vimeo.com/25189597
I don’t think that Jonah’s going to die anymore, I even allow myself to think about his future. I have Jennifer and Stuart to thank for that, their work for a cure started 10 years ago along with fellow pioneers the Linton’s (Life for Elisa) and the Wilson’s (Cure Kirby) Whom I also have to thank.
I had the pleasure of meeting BIG BEN in 2011 at a fundraiser that the Burke family was hosting (JLK). When they walked in It was if I was seeing a movie star. Ben still had a few words then and you could tell he was checking out the chicks at the bowling alley. I'm pretty sure he had his eye on Kelsey Burke.
Friday night Jonah and I took a redeye out to OR. Before I left I got a message from Jennifer, she mentioned that today was the day the first MPSIIIB child was being seen for the type B Natural History Study (NHS). She found it ironic that the study was starting on the day that Ben was fighting for his life. Jennifer asked that I continue to help raise awareness about the NHS. We are having a hard time finding patients for it. This is because, the drug company Shire has been conducting their own type B NHS. There aren’t enough known candidates to participate in two different NHS’s.
The NHS study goes hand in hand with the first ever gene therapy clinical trial for type A and B in the US, which is slated to start enrolling later this year. The research that the Siedman’s have been funding for almost a decade is finally coming to fruition. Ben, the muse behind the NHS must have known that it started. For us Ben will never die his spirit will live forever in a cure.
On Monday I head to San Diego for the annual WORLD conference. It will be a very emotional trip, Ben is a legend amongst the Sanfilippo community. Some of his personal clinicians will be there along with all the scientists that BD has funded. JJB and BD submitted a poster that was accepted for presentation. The poster describes JJB’s collaboration with BD- it’s meant to raise awareness for our patient driven NHS and Sanfilippo registry. It discuss’s the importance of sharing data and working together for a treatment. There are just a handful of Sanfilippo kids represented on the poster all of them type C with the exception of Ben’s picture. My work at the conference will be done in Ben’s memory, I’m empowered by Ben and I won’t let him down. On a side note the poster was already presented by Raquel (JJB’s V.P.) at a rare disease conference in Portugal; it was accepted on the day Ben died to be presented in Berlin.
I’m in the process of writing a grant, also in collaboration with BD (the National MPS society and Cure Kirby.) I was concerned that I wouldn’t make the deadline, now I’m driven to see it through. With that thought, I’m sure Ben would rather see me spending my time working on the grant. So off I go.
I hope the entire Sanfilippo community including patients, scientists and clinicians that are reading this blog will honor Ben by joining the Sanfilippo patient registry. Or by spreading the word of it’s existence to all of their friends and colleagues.
NHS for A and B.
Information about the NHS.
The Sanfilippo Patient Registry (all subtypes)