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Tuesday, October 22, 2013

What's next... I'm afraid to ask!

Kicking up my feet for a few days... 
Laying low with Jonah, poor baby has a nasty cold. This month has taken a major tole on all of us.  We’ve been running ourselves ragged, traveling, promoting and planning. 

Jonah is in a huge new school now, lots to get used to and lots of germs to fight off.  I told my pediatrician that we’re going to be living in his office this winter, fortunately his office is just a few blocks from home.  You gotta appreciate the little things in life!

Our entire Sanfilippo community is heartbroken...

over the deaths of four Sanfilippo children whom all passed within a six week period of time. Another reason I haven’t written in awhile... I don’t like to admit out loud that these children died and they all have Sanfilippo like Jonah. Brendan, Ben, Chloe and Nikita were all so young 11-14 years old.  Sanfilippo is so rare that these kids and their families become our extended family, having never met in person we know so much about each other, through our chat groups, it feels like we’ve known each other forever.  These night’s each parent is thinking the same thing: “Winter hasn’t even hit yet, who’s next?”  “Could it possibly be my child?”

It’s a real life horror movie, who is Sanfilippo going to murder next?  None of our kids are safe...

On that note, I’m going to stop and make Jonah dinner and try and move past this entry. - Take 5 everyone- 

Let’s try for some cheer.... I know I could use some!

Let’s see, well there is Jonny and his Flash Gordon like awesomeness, running a second ultra-marathon so that he could reach his goal of a $160,000.00 for our Natural History Study. Jonny ran another 50 freaking miles on September 19th!  He exceeded his goal by 5%.  I tell you this man is something special, he is not a quitter,  when he says he’s going to do something he does it. For real! I’m not star struck, I’m not that kind of person.  FYI Jonny doesn’t hold a candle to my husband!  Okay I’ll give Jonny points for the accent/voice...

On the 3rd Jonny is going to run the ING NYC Marathon, he’s going to run this one for for his fans, a thank you for making our goal!  For those of you in the NYC area please cheer on our super hero Jonny!  You'll be hearing more about JLM's plans to support JJB in the new year.  We can't thank Jonny and his fans and JJB's supporters for all of your generosity and support!

More on the Natural History Study (NHS) front...

JJB and our Primary Investigator (Dr. Paul Levy) have been invited to be part of the LDN’s (Lysosomal Disease Network) RDCRC a.k.a the Rare Diseases Clinical Research Consortia a grant also known as the U54 that the NIH offers every 5 years, a few new grants are accepted and many previous grants are renewed.  The LDN’s grant is a renewal.  

The LDN hosts the US conference that I always go to in February called WORLD (yet it only takes place in the US hmm.)  This is my favorite conference, everyone who’s anyone in my little world goes to this conference.  The LDN is a large consortium of institutions and academics committed to the advancement of treatments for Lysosomal Storage Diseases.                                                                
I know I already lost you, so I’ll just cut to the funny part’s.  I really really wanted our NHS to be on the list of the LDN’s, RDCRC renewal.  I made a few HARRASSING phone calls and emails, then realized I was way too late and I should let it go, before I annoyed anyone too much. The LDN’s cut off for proposals was last February. lol But seriously I saw their list of projects and they really needed my project to round out their proposal.

The evening that I resigned to let it go, I was skyping with JJB’s V.P. Raquel from Portugal.  The land line rang and Jonah answered it, Raquel and I got a good laugh out of Jonah talking to the ‘solicitor’ on the line, Jonah hung up.  It was after business hours and I never answer the land line. (FYI I don’t take unsolicited phone calls, you must schedule a call)  Anyhow, the phone rang again a few seconds later, I checked the caller ID. Whooopsies... I answered. It was Dr. Chet Whitley the director of the LDN consortium... good thing he see’s Sanfilippo children on a weekly basis and got a big kick out of talking to Jonah.

Dr. Whitley asked what was up, he had been told by numerous people that he had to call me.  I gave him my 15 min elevator pitch, we talked it through.  He reminded me that this was beyond last minute and if I wanted this to work I would have to give him my blood, sweat, and tears.  (uhhm do you want them freeze dried and fedexed or in person?) This was a Wednesday and his grant workshop started Friday evening. I would need to send him my primary investigator for  the LDN’s Saturday grant writing workshop and find a half dozen other clinicians that would want to enthusiastically be part of a now multi-center NHS.  GO

I didn’t waste any time contacting my short list of candidates.  The next evening our NHS P.I. Dr. Levy called my land line, I ANSWERED for him.  Dr. Levy must have been expecting me to yell at him he said: “Jill is this you?  You sound so subdued?!”    It was now 24 hours since Dr. Whitley gave us his ok to submit our NHS protocol to the LDN’s RDCRC renewal. Dr. Levy knew I was DESPERATE to hear from him.

Good thing for Dr. Levy, he gave me the right answer, he had cleared his work schedule (understand this is an in demand pediatric geneticist.)  Paul was online ready to book his flight to Minnesota . Alas he was on board.  I failed to mention that I snuck Sanfilippo type D’s NHS in on this project too.  Somebody had to do it, Ive since been forgiven for dropping that work load on Paul's lap without asking.

Flash forward the renewal application is due in a week.  Even with drastic NIH budget cuts, I’m confident that the LDN’s project will be renewed, JJB’s cut of the grant will be minimal.  But in this case the funding is not the point, the name recognition is where it’s at.  Being a part of the LDN will say to the FDA and big pharma that our NHS is as close to perfect as possible.

The Rare Voice Award...

I was nominated for the Rare Disease Legislative Advocates “Rare Voice Award”  There were 4 categories for the award nominees: The congressional Leadership, Government agency, Congressional Staff, and Patient Advocate.  My category was for the patient advocate.  All categories were based on congressional staff and patient advocates that gave a voice to rare diseases on Capital Hill.  The judges made their decision based on the nominees scores on: leadership, risk-taking, cooperation, and overall success and effectiveness.  This description is what moved me the most, I’m honored to have won this award based off of these qualities.   You never know if people notice what you’re doing or if what you’re doing is even noteworthy.

Accepting the award was one of the proudest moments of my life.  I can’t thank the RDLA and EveryLife Staff enough for giving patient advocates like me the tools and opportunity to make a difference in the politics behind rare diseases and allocation of federal dollars to help us. They are the true heroes here. The other winners of the “Abbey” award are some of my biggest heroes, it was surreal to be honored along side the likes of Janet Woodcock, John Crowley and Pat Furlong. A little note about Pat, her 2 son’s both passed from a horrific diseases called Duchenne Muscular Distrophy.  Pat gave an interview to the New Yorker about her boys and her mission and work with her foundation the Parent Project Muscular Dystrophy.

The article was published in 2010 six months after Jonah’s dx. We had already formed our foundation and started locating the scientists and fundraising. Several of my friends and family read the article and took the time to drop it in the mail to me.  All the notes along with the article, said “she reminds me of you.”  Pat’s article gave me legitimacy, if this mom could move mountains, then maybe Jill can too. 

Whats next....
I’m going to Texas on Thursday to join the National MPS societies family conference. I’m not bringing Jonah though. I have yet to go to one of the MPS family conference’s there was one held right after Jonah’s dx, Jeremy and I weren’t ready to meet the other children yet, the other 2 conferences landed on Jonah’s  So here I am ready to go and meet some lovely families and their children for the first time.  It’s super hard to meet a room full of the future version of Jonah, kind of sucks the wind out of you.  I’m seasoned enough to attend now.

The week after the conference I’ll be attending Partnering 4 Cures, which is held in NYC, this will be my third year going, last year Sean and I presented our business model.  This year I’m anxious to network with board directors of philanthropic foundations and visit with many advocates and meet many new advocates.  JJB is helping the EveryLife Foundation host a meet and greet for advocates interested in networking with each other. If anyone reading this is a rare disease advocate and wants to join us, email The mixer will be held on Monday 6-8pm at the Public House.

Isn't this the coolest print?
 I love it check out Jonah's banner in the middle of his chest. This is going to make a really cool T-shirt!
You can get a t-shirt with the JJB "strongman" or a print of the original piece of art check our Erik's crowdrise page.

Foundation goals...
I can confidently say that we have accomplished and laid all the groundwork humanly possible to pave the way for a treatment. Last on my list was to get a patient registry up and running and hammer out the details for our NHS, now that's done too. We have several excellent research programs in the works. We’re pinching every penny and keeping up with our research payments.  This is one of the toughest jobs out there, we live from pay check to pay check and we never know if we will be able to keep up with the growing amount of research.  The further we delve into the science the more science and hypothesis for other therapies comes from it.  I guess that's a good problem to have. Him laying out a hint for you, be on the look out for your Holiday Remit envelope and our 4th annual news letter.  Nothing says the Holidays are coming like stuffing envelopes.

He’s the coolest kid ever, learning and growing everyday. I feel really good about the place he’s in. Yes there are some health issues and some behavioral quirks, but nothing that is freaking us out.  Jonah keeps telling me he doesn’t want to go to Halloween, it’s too scary. Months ago he told me he wanted to be a red dragon, I found the coolest costume, which he deemed too scary.  We did get him to wear it at Sebastion's Birthday Party, so hopefully there is hope that he will let Halloween come and wear his costume.

Rest in peace... Ben, Chloe, Brendan and Nikita.  These children were loved by their parents with every fiber of their being.