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Sunday, December 8, 2013

It's coming...

Sanfilippo is knocking on our door.
Santa is coming.
National Believe Day aka Make A wish.
Sequestration hasn’t stopped.
Sanfilippo is taking Megan.

Sanfilippo is coming...

A couple weeks ago was parent teacher conferences.  As I was standing outside the classroom door, I looked over the bulletin board of stories that Jonah’s class wrote.  I couldn’t help but notice that Jonah’s story line was almost non-existent, like the story had to be coaxed out of him, the pictures to support the story “Jonah goes to the Park with Mom and Dad.” Were not advanced he was still drawing like he was three.  I started looking over the other kids books, my stomach dropped, all the other kids had long detailed story book names and their pages were filled with color and depictions of what they did. The difference in skill level could not be ignored.

It was the first thing I said to his teachers, which echoed their thoughts, his teachers pulled out a picture that Jonah drew of a policeman, he could have done better when he was three. I wanted to cry, here comes Sanfilippo.  They went on to say what wonderful other skills he had. His letters, sounds, and number recognition was much higher then required at this age.

Phew... I thank early intervention and full-time pre-school for that. I asked about his one-on-one if she was really needed or not?  The teachers eyes got big and it was a unanimous YES!  I was reluctant to have a paraprofessional with Jonah, I thought it would be over kill or give him a stigma. The teachers said, Jonah wouldn’t be able to get through the day’s routine without his para.  That hurt.  Jonah did so well in pre-k.

I ran home and called Jeremy desperate, we have to do something now, he agreed that I could hire a tutor. The following Monday Jonah’s tutor started, I hired one of his pre-k teachers, she comes twice a week for an hour.  Just enough time to get through his homework and maintain and build on the skills that he does have. His tutor has a master in special education and she understands Jonah and the disease, and has been a huge supporter. I’m so happy she could do it, there’s no way I could get Jonah to do what she can.  She definitely learned a skill in college.

Now we have to tackle the behavioral.  Jonah has been super stubborn and giving his teachers a really hard time. “no” “no” ‘no” I don’t want to, I’m too sick.

Ok so some of that might come from the stubborn gene he inherited from his mother. We see his psychiatrist next week, we will discuss behavioral intervention.  It’s not that Jonah’s being bad, he’s just acts out when he feels like he can’t do something, it’s too hard. I’m hoping we can build Jonah’s self confidence so that he’ll try without putting up a fight.  We’ll keep trying new techniques to help support Jonah’s skills and behavioral issues.  I’m sure we’ll be in the poor house in doing so, but seriously who cares.

We do have some good news.  I think I mentioned before that Jonah had had a couple of bad blood results come back with elevated liver enzymes, which means his liver functions are elevated because of inflammation on his liver. I put Jonah back on the genistein regiment and three months later we had his blood-work redone and everything came back normal!  WooHhhhHHhhoooo!
Making Thanksgiving dinner, wearing nothing but his apron made by Grandma.

Speaking of which the genistein trial in the UK is about to begin, so we will finally know once and for all if it really works or if it’s just in our heads. Coincidentally the primary investigator (scientist) Dr. Brian Bigger who is conducting the genistein trial came to NYC on Wednesday.  Brian was in town for a quick advisory meeting, here for just 24hours. We had a window of four hours to chat.  I asked if I could try and get the Rare Disease Report to come meet up with us to do a follow up to the genistein trial to coincide with the press release.  Brian agreed and I was able to catch the reporters in time to come and meet us.  Ugh... when Brian landed he was sick he had had the flu for 3 weeks and thought he was over it, but the flight just about killed his sinus’s and he had no sleep for 24hours.  Brian tried to back out of the interview. I told him: “hell no”, I got these guys here... Jonah has backed up sinus’s everyday of his life and you don’t hear him complaining.  I was pretty ruthless.  Brian did a good job you can’t even tell he’s sick. It’s a good thing he did the video will be very meaningful to the Sanfilippo community.

Santa is coming....

Jonah is super psyched about Christmas, we got our tree up and every morning Jonah runs out to check if Santa came early. Sadly the one thing that he really wants for Christmas I can’t or refuse to buy.  You know the pixar movie Cars I and II?  Well Disney releases the toys in just one or two lots then it’s over, no replenishment, so unless you work at ToysRus, you don’t know when to go and buy them.  They are selling on eBay/Amazon for $60.00 seriously!!!  They are literally just like hot-wheels but they change color when you take them from cold to hot water.  You know... I’m going to have to break down and order one, so that I don’t ruin Christmas.  It’s A $5.00 car at retail and I’ll pay $60.00 bucks for on eBay!  Seriously next time I happen to be so lucky enough to be at Walmart when the Pixar Plane movie color changers are released, I’m buying the entire case and selling them on JJB’s eBay store.

Here’s a link to our JJB eBay store.

Side note...

While I was thinking about it, I just had to check Amazon and there was Carl Cartrip in his prime and glory for just $19.99!  So I bought it, Carl was flanked between a $74.00 McQueen and $162.00 Sheriff!!!!!!!  You have got to be kidding me!  Take it from one idiot collector, who’s mothers closets are stuffed with my childhood toys- A Madame Alexander doll purchased 30 years ago will still only raise it’s retail value on eBay. I did however sell my entire Strawberry Shortcake collection at a garage sale and raised enough to buy my mom a new computer.... So that’s something.

Here is a link to our Amazon store.

National Believe Day-Make A Wish... 

A few weeks ago I posted this story about an awesome make a wish gift.

Now this is the best ever Make-A-Wish America wish that I have ever seen! When Jonah was first DX'd with MPSIIIC, #MakeAWish called me. They said that Jonah was eligible for a wish. I was kind of taken aback that they called me, first Jonah was only 2 at the time and he couldn't talk, he wouldn't be able to verbalize a wish. Secondly I was deeply saddened that my son was on their wish list. Still newly dx'd I hated the idea that my precious little boy was on such a list. I told the nice lady that we were too busy fighting for Jonah's life to take a vacation and hung up.

Then I got to thinking about it... If I could somehow turn Jonah's wish into a major publicity event for JJB, to raise awareness for Sanfilippo then I'd be all for it.

I called the lady back and pitched her my idea. I wanted to invite all of Jonah's immediate family to NYC and have reserved seating for the Thanksgiving day parade.

Then Jonah would have his own (JJB) float decked out in the MPS/JJB theme, Jonah and friends would throw out purple heart candies with information about the disease. The announcers would be sure to point out that this was a Make A Wish sponsored float on behalf of Jonah who suffered from the fatal disease #MPSIIIC . BUT his family was fighting his fate- with a foundation that was raising funds for medical research.

The women politely shot me down. She said no way could MAW pull something off like that. Plus Jonah would have to be the one to ask to be in the Thanksgiving day parade. (I know he'd go for it now if his cousins got to come on a float with him.)

So that's my #MAW story. I'm glad that this little boy got his awesome wish and was able to raise much needed awareness for leukemia, btw as fate would have it there is a 5year old in Jonah's class that is fighting leukemia too. I must pass this story along to his mom.

Side note...

My Cousin Molly, now 40 was at the ground floor of the new technology to treat leukemia.  Think back 35 years ago, the treatment for leukemia was archaic, Molly just recently had some MAJOR side affects from the chemo she received over 30 years ago.  She’s recovered now and is doing brilliantly. 

I can only imagine what I’ll be saying about Jonah when he’s 40.... “yeah and the treatment for Sanfilippo back then was horrific,  we had to drill 6 burro holes into his head and then inject an innocuous virus like AIDS into his brain and hope for the best.

Back to Make A Wish....

Yesterday on twitter I noticed a bunch of tweets about Macy’s ‘Believe Day.’  The premise is that your child writes his note to Santa and you bring it to Macy’s and for a dollar Macy’s will deliver the note to Santa, all proceeds going to Make A Wish (MAW).

Now this is where I need a heavy handed editor to PC my thoughts.

So Macy’s donates a dollar to MAW to every letter received.  While the children stand in an hour line waiting to sit on Santa’s lap to ask for their wish and  possibly purchase a $5.00 photo of the moment. Meanwhile their parents go shop and spend on avg. let’s say $200 bucks ( I’m just guessing at that stat.)

Damn this is the kind of racquet that I want in on.  I’m sooooo jealous. I plan on taking Jonah to see Santa at Macy’s, because he wants to see Santa and I want the most authentic Santa.  I’ll call ahead and make sure someone escorts us to the front of the line, like I mentioned (Sanfilippo) is on the MAW foundation list. Ugh I’ll have to buy their photo because we’re not allowed to take pictures. 

My point...

Talking to Brian on Wednesday, I voiced my concerns for the 100th time about how we would be able to take our gene therapy to market for our ultra-rare disease.  Again we agreed the best way to fund phase I/II of the trial would be through JJB, because the foundations status would give us financial savings that Phoenix Nest or any other biotech would not.  Then fingers crossed someone would partner with us for phase III and commercialization.  Without even flinching I told Brian that JJB would finance phase I/II.

You know when you walk by a beautiful three million dollar home and you wish you could have it? You tell yourself maybe ten years from now I’ll have saved enough to put down a down payment.  

Wishful thinking is not an option here. In three years time JJB needs three million earmarked for a phase I/II trial.  So when I see that Macy’s plans on raising a million dollars in one day to go to the make a wish foundation I want to puke in my mouth.

When will someone ask what a family of a dying child really needs?  A cure!  I could get 3 treatments ready for trial with a million dollars for academic research.

I don't deny that many of our Sanfilippo children have thoroughly enjoyed their MAW and that is is a good program.  I'm just saying I wish more people would get their hands dirty and address the root of the problem.

The Burke Girls at their MAW.

Don’t even get me started on Sequestration...

For us It means that the biotech dollars/fee’s that they pay to the FDA to keep the FDA’s programs going are put on hold.  These aren’t even tax payer dollars, pharma is picking up where the tax payer dollars don’t stretch. SInce sequestration the FDA has not been able to access 85 million dollars!  Now were going into 2014 and sequestration hasn’t been settled, and the dollars that pharma pretty much donates to the FDA are being waylaid because our congressional members cannot work together. I just can’t get over it.

Between JJB and Phoenix nest we just submitted three federally funded applications for grants. It will be a miracle if just one of these grants are approved. Thank you Sean, Patti, Alexey and Paul for all your hard work in putting the grants together!

My wish is that a billionaire will be awakened to the fact that people like ‘us’ need a foundation that raises millions for ultra-rare disease research. 

Sanfilippo is taking Megan....

So with a heavy heart I leave you with this. I couldn’t start out the blog about Megan, because I’d never be able to get through it.

Megan is 27 she has Sanfilippo type C.  Her body has decided not to process feeds anymore.  Megan is literally starving to death, they are trying to make her comfortable with pain meds, some days they work, yesterday they didn’t and Megan cried all day.  Today her mother is asking for God to take her from her pain.

On Friday I called my scientists to talk to him about Megan, as if he’s my psychiatrist, I just wanted to hear his voice.  I needed to hear about all of our projects and how they’re coming along.  I needed to remind him that the clock is ticking. He defiantly understands our urgency. I just have to remind him not to think too much, just do it. Alexey reminds me of my husband, he never wants to make a mistake so he ponders his options forever. Sometimes you just have to go with your gut feeling (men are not equipped with the gut feeling) JLK-Foundation and JJB just funded the salary of a new post-doc to help speed up the process. Alexey is searching for that candidate now.  I hope the perfect candidate drops in his lap tomorrow and can start on Tuesday.
How I like to think of Megan....


Thanks again....

to my scientists that busted their butts to get in three grants and to Mari who makes me feel like I can be in two places at once.  Check out what she’s done on our Etsy store.  My Mom who slaves to do whatever she can to help raise a few bucks for JJB and to Janice who generously donated her beautiful pieces to JJB.
Link to our Etsy store

And of course to Jonny and Erik for raising us big $$ through crowdrise. :)

And to all of those that have received their Holiday Remit envelopes and immediately sent them back witch checks. My goal is $20,000 grand, last year we raised $16,000, we’re at $5,000 right now. 

Hey if you pre-order a JJB T by JJB will receive $1,000.  We have to have 50 pre-orders  in by December 14th  for the order to go through. We need another 28 orders!  Order yours now.
The Link

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.

Thursday, September 5, 2013

I'm going to be published!

A blog within a blog. 
JJB's CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with yours truly and my patient advocate friends Lori Sames and Alison Moore. He named his blog: "Rare disease heroes – Extraordinary collaborators we should be listening too." Sean helped my friends and I write a paper called: "Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery." 
 YES, I'm going to be published!  It will be in Drug Discovery Today, soon.  The link to the reprint is below.
 Once I accepted my new job in life and saw that I could actually be the driving force behind a treatment for Jonah and his friends.  I wanted to share my experience with others and inspire them to take action to help bring about treatments for rare diseases.  I know many people still think I'm crazy, that a treatment for Sanfilippo is just wishful thinking on my part.  Well... that kind of thinking is more of a reflection on them then it is me. And I'll show you!
 Sean's blog....
Sometimes you meet people that truly inspire you to do more, question what you have been doing and rethink your goals in life. But when you meet three of them in a short space of time you realize that something transformative is happening. In the space of two years three non-scientists have overtaken all my previous scientific role models. Having undergone a pretty classical scientific education (undergraduate, PhD, post graduate, worked in R&D etc.) I was perhaps, like many, under the illusion that we can make a difference alone.  I had never met the actual patient or the family member that needed science to find them a cure and do it fast. Then I met Jill Wood, Lori Sames and Allison Moore all with several things in common. Firstly they or their family are affected by a different rare disease. Second they are proactive trying to find a treatment. Third they are entirely dependent on collaborations to make progress. They are aiming high, in fact, so high that their approach could herald a new wave in pharmaceutical research.  
Each of them separately formed a rare disease foundation (Jonah’s Just Begun, Hannah’s Hope Fund and Hereditary Neuropathy Foundation), raised money for research, networked with scientists around the globe and funded the ideas they wanted to pursue in search of therapeutic treatments. Many other parents or patients have taken similar steps to find a treatment or cure for a rare disease. What sets these three apart is that none of them are scientists, they have self-trained themselves through good old hard work, finding the right experts, and are pursuing their goal by merging leadership, entrepreneurship and the single-minded scientific vision of a principal investigator. Now there is much to learn from this, they have no fancy technique or special formula, they just surround themselves with the people who can make their ideas happen, they listen and then do whatever is necessary to help the scientists succeed. Their infectious drive was such that I wanted to help and having volunteered with their foundations and start-up companies I realized earlier this year it was time to tell their stories so far.
As with other recent examples, having the idea for a paper and getting it published are two entirely different things. We started out thinking it would be a short paper for the rare disease focused journal called Orphanet, yet we were rejected. It is unfortunate in some ways because Orphanet is an open access journal and the paper would have been more accessible and giving parent / patient advocates a voice would have balanced their usual content. A far more detailed manuscript was ultimately accepted in Drug Discovery Today and a preprint of the article is available.
Imagine the scenario that if every one of the approximately 7000 rare diseases had a Jill, Lori or Allison?  Far more could be done to further our understanding of each disease and certainly they would encourage more collaboration that could help as each tries to develop a treatment. While in the manuscript we note that biotech and pharmas are looking to rare diseases as a potential commercial opportunity, still there is the challenge for some of the “ultra-rare” diseases for which there are very few patients.  When one looks closely at the achievements of Lori, Jill and Allison and their collaborators, there are similarities with how some venture capital companies are incubating new rare disease companies.  The VCs of course have the benefit of tens of millions of dollars to try an idea, which is not available to Allison, Lori or Jill, and they have to raise the money their scientists need themselves. Perhaps in spite of the small numbers of patients, the approach they each have pioneered is certainly scaleable. If enough scientists can be encouraged to engage with such rare disease champions and work on rare diseases either part-time or full-time, then we will have more treatment options available. Other parents or patients with rare diseases may be encouraged to follow their lead. 
After the manuscript was accepted,  I had been offered the opportunity to officially consult for all three groups. And so begins a new phase. My goals are to assist them in their science, communication of the projects they are working on and efforts to partner and fund their work. I look forward to documenting progress as it happens and learning from Jill, Allison and Lori as they pursue treatments for Sanfilippo syndrome, Charcot-Marie-Tooth Disease and Giant Axonal Neuropathy, respectively.

Sean and I at last years Partnering for Cures summit.  

Tuesday, August 20, 2013

Time out.

Time out.

Jonah and I are in OR at Grandma’s house.  We’re prepping for next weekends 4th annual wine & beer tasting, silent auction benefit.  Salut, Prost, Cheers... To a Cure.

Today Jonah and I are taking a long overdo time out.  Jonah’s Sanfilippo induced behavioral issues are showing themselves.  It has been extremely difficult to watch let alone address. I have been screaming ‘time out’ to no avail for the past week.  Starting from our flight out here.  Jonah was a complete angel the morning of our flight.  He has been looking forward to this trip for months. Every morning his first words were: “Is it time to see Grandma, Aunt Jennifer, Sydney, Elliott, Campbell yet?”

Our flight was at dinner time.  It took us 45min to get through the baggage check line and another 45min to get through the security line.  I was so impressed with how patient Jonah was while standing in line.  He was far from perfect but he didn’t run away or freak out. That’s really all I ask for.  Once at the x-ray conveyer belt and security scanners, all hell broke loose. First he touched the side of the walls in the scanner, they had to re-boot, Jonah had to wait and go again.  Once through, I grabbed our shoes and started to put mine on. I looked up to see Jonah preparing to run back through the scanner machine so that he could put his hat back through the xray machine.  I yelled for security to stop him, while hopping on one foot. Jonah made a break for it, running gleefully.  He threw his hat back through the machine.  The security people just stood there staring blankly. I didn’t want to chase him, that only makes things worse. I wanted security to grab him, but they just stood there looking annoyed.  Maybe they have rules about touching kids....

So I run for Jonah screaming: “You’re on red light mister!” “Your pad is in time out.”  “Ok so lets just go back home.”  Jonah is on fire at this point and is running back and forth through two different machines, ducking under the conveyer belt, separating the machines. Mind you the lines are 45minutes long.  Each time Jonah ran through the scanner he set it off by touching it. By the time I catch him he’s really scared and won’t go back through, he’s hysterically crying; afraid of the security guard. Finally they let me pick him up and carry him through.

I grabbed our stuff and through clenched teeth I read him the riot act. Not wanting to make eye contact with anyone. Three thoughts... 1. I need a treatment tomorrow!! 2. I can’t fly alone with Jonah anymore. 3. Please nobody recognize me.

I failed to mention in my previous blog that an English flight attendant on my flight back from Italy recognized me.  She came up to me and asked me if I was Jill.  I said yes, not knowing what to think... How did she know my name?  She told me her story, she had learned of JJB through Jonny Lee Miller’s tweets, she has been following us for months. She had even donated to our cause and read through our website.  She recognized me from the CNN interview.  What a trip.

Once on the plane Jonah settled in a little bit.  But never sleeping; making best friends with the school teacher, Dustin from Tualatin sitting next to us. A huge shout out to Dustin for his patients and understanding.  Dude... Jonah licked the guys arm on several occasion and he jumped in his lap and tickled him numerous times.  This is a 5 hour flight. I couldn’t have gotten luckier to have sat next to the nicest guy in OR.  I didn’t tell him about Jonah’s issues, I don’t like to talk about it in front of Jonah. I should have passed him a business card, I just didn’t want to bring it up.  My nerves were shot. I know he knew something was up.  All I said was that Jonah has tactile and sensory issues.

Jonah has been over stimulated ever since. Yesterday was an absolute nightmare, trying to work out a major glitch in our wine event planning.  Jonah demanding 24-7 attention and monitoring, relentlessly harassing his cousin.  Today we took a time out.  Sent Grandma and Campbell to the Zoo, while Jonah and I decompressed. This was the best thing we could have done. I worry about how the over stimulation is helping to advance the disease.  It’s all neurological.

I also got the results back today from Jonah’s second blood test, his liver enzyme levels are even higher then last time. Just more insult to injury, nothing we can do about it right now.  We’ll go see our specialists when we get back, I doubt we’ll be able to help the issue much, it’s just the disease doing it’s insidious thing.  At least now I know for sure it wasn’t the Vyvanse that caused Jonah’s compulsions; I can put him back on it. Fingers crossed it curbs his compulsions.

The news just doubles my anxiousness.  I want a cure now!

I look forward to our wine event for help, I want to raise more and more $$ so that we can expedite the science. I keep thinking about Alexey’s most recent discovery and the research that has spawned from his discovery.  He’s just about to run out of money and we recently got word that he didn’t win the grant that he applied for in February. :( 

This is what Alexey had to say in the recent article in Chemistry & Engineering.

Montreal’s Pshezhetsky recently found something unexpected in the brains of mice with the Sanfilippo type C mutation. As the central nervous system of the mice is progressively debilitated by the buildup of sugar molecules, the mice become hyper­active, fearless, and lose their ability to learn. But Pshezhetsky made a curious observation: The symptoms aren’t caused by dying neurons.
That finding runs counter to common wisdom that the brain cells of Sanfilippo kids become clogged and die. The scientist hypothesizes that the buildup is instead causing defective synaptic transmission, or a disruption in the cross talk between brain cells, and he is searching for molecules that could protect or restore that neurological function.

Synaptic markers in the brain appear to be reduced in all four types of Sanfilippo. Moreover, Pshezhetsky thinks the effect could exist in the broader MPS population; academic studies are ongoing to confirm the hypothesis. He is also testing existing neuro­protective drugs to see whether any show signs of efficacy.....

I take so much hope from these words. To read the entire article about our efforts and obstacles visit

FYI the journalist, Lisa Jarvis of the article is coming to our wine tasting event!  Even more reason to read the article... it’ll make for a good conversation piece.

To avoid the lines to get into Salut, Prost, Cheers  (I have a feeling they might be congested) you can purchase tickets online up until Saturday night.

Jonny Lee Miller has been really great about Tweeting for the wine event.  He’s such a wonderful person... Follow him on Twitter and watch for his tweets about JJB and the wine event. Follow JJB @JJB4CURE and Jonny @jonnyjlm


Wednesday, July 10, 2013


In between gigs right now. Spent a few days in Italy.  Back now and planning our wine tasting event.

Just another calm before the storm, I should be preparing for the storm but I’m not sure what will happen first?!  I’m waiting for everything we set in motion to catch up.  The protocol for our Natural History Study is with the Children's Hospital at Montefiore’s, Internal Review Board. I’m waiting for word to start recruiting for the study and registry. Tick Tock.

The promotional materials for our wine event are ready to be sent out.  Just waiting for the website to be updated.  Tickets will go on sale July 16th, you will be able to purchase them through our website or by ordering them by mail. If you’re not on our mailing list sign up now, you won’t want to miss out on all the festivities.

The event is coming together very smoothly, our winery lineup is looking amazing, as usual!  This year we will have 2 breweries pouring as well.  I’m super excited about our food and music venue. The Jake Blair Band is coming back again and we’re having BBQ this year catered by Dukes BBQ pit. Think finger lickin’ good without the mess. I can’t wait!!!

Salut, Prost, Cheers... To a Cure!  Will take place August 25th 4-7:00pm at Stoller Family Vineyards (OR). We’re calling for donations for our silent auction now.  If you would like to donate to the auction, send us an email

ITALY.... Went to Naples to visit our friends at the Telethon Institute of Genetics and Medicine. TIGEM is a huge lab focused on genetic research.  They are Internationally renowned and well known for their cutting edge research.  There are two investigators there that are focused on research benefiting Sanfilippo.  Director, Andrea Ballabio is working on the trigger to tell the master gene TFEB, to tell the cells to dump their storage.  Sanfilippo is just one of the 50 lysosomal storage diseases, holding onto storage that should have been recycled.  Pharmaceutical companies: Shire and Biomarin have taken interest in Dr. Ballabio’s work and are funding this research. I have no doubt that this program will work. Tick Tock.

Getting the storage out is one thing but we also need to get the enzyme in.  Without the enzyme the body will keep creating the storage.  That’s where our second researcher Alessandro Fraldi comes in. There is a blurb on the two different programs that Alessandro is conducting for Sanfilippo A and C on our website.  We signed an NDA in-order to hear the particulars, so I’ll refer you to the website for what we can say.  I can say that this though, the science is breathtaking in it’s originality and potential benefits for the disease.  Not only will it help MPSIIIC, but it will have ramifications for other diseases with membrane bound enzymes like ours.  Here’s a link to Alessandro’s lab.
HANDS families: Raquel (Portugal), Belen (Barcelona) and Guilhain (France) met together with our friend Arleta (Poland.)  TIGEM hosted our small patient population meeting, rolling out the red carpet for us.  Alessandro’s entire lab came to meet with us as well as TIGEM’s Chief Scientific Officer, Graciana and the Director, Dr. Ballabio. It was priceless...

Whoever told me that parents shouldn’t bother the scientists- that they don’t want to talk to us... well they should be kicked.

Coincidentally Alessandro’s team had a French and Spanish speaking scientist, so Belen and Guilhain were well taken care of.  Our scientists gave us a blow by blow demonstration on how their research works and where they are in the program.  Being there and seeing these guys in their labs, knowing that this is what they do all week. The visual is immeasurable, on days like this when I feel like I’m just waiting, I can picture Alessandro’s team working for our children.  This goes both ways too. 

The scientists loved meeting with us, they took us out for a beautiful dinner where we ate our pizza on the boardwalk.  They asked us lots of questions about who we are, how we got together and what were our children like.  We left them with pictures of our kids and Raquel created an inspiring movie that she presented to them.

Right before I went to Italy, Jonah had his 6mo GI check up, we had some blood work done because his liver was pronounced.  The blood work came back with elevated enzyme levels. The results were a huge blow for Jeremy and I.  If there is one thing that Jeremy and I do not wait for... it’s signs that the disease is progressing. We took Jonah off Vyvanse, which helps control his compulsions.  We wanted to rule out the vyvanse as the reason why the liver functions were elevated.  You could tell right away that he was off it, his behavior escalated.

Jonah can’t help himself from touching or crashing into strangers on the street.  He always seems to pick out the cantankerous old men to goose too.  Whatever... mean mugs like that deserve a little butt grab now and then. 

After Jonah’s blood work I called around and talked to some parents about their kids liver enzyme levels, it’s not uncommon and most parents just watched it. Which brought me down from the cliff for a second.  I then asked one of the Mom about her son’s behavior at 5, Jonah is turning 5 at the end of the month.  She said she didn’t want to scare me but that was when her son’s behavioral issues began to escalate and the cognitive development started to slow down.  On avg. type C kids are diagnosed at 6.  When I talked to my friend about kindergarten, she told me that her son was expelled in kindergarten for his aggressiveness, meanwhile his speech, reading and writing development drastically slowed.   Like I said we’re not sitting around waiting for this to happen.  We’re doing everything humanly possible to give Jonah the tools to move forward. At this very moment he’s brilliant and that’s what we focus on.  Our scientists are working away and our parents are working hard to keep them funded. I still here the clock ticking.

I have a quick favor to ask of everyone.  If you could please click here and vote for my friend Elisabeth Linton.  Elisabeth is a Sanfilippo Mom from Canada.  She’s in a Mother of the year contest hosted by Walmart Canada.  Elisabeth’s foundation is called the Children's Sanfilippo Research Foundation aka Life for Elisa.  If Elisabeth win’s her foundation will receive $100,000!  Like JJB, CSRF is also trying to fund their Natural History Study. Sanfilippo A and B are very close to going to clinical trial for their gene therapy.  I desperately want Elisabeth to win this funding!  Not just because the funding will go towards science, but because Elisabeth truly deserves this honor.  Hopefully most of you got our email blast, but it you didn't please vote now.

Thursday, May 23, 2013

MAY! may it please end.

Just one week of May left. I think I can make it. If I shut the curtains turn off the lights and phones maybe everybody will think I’m out of the country.

Seriously this has been one of the longest months of my life.  Jonny’s run was just on the 4th and it feels like a year has passed since then.

May 6th is our wedding anniversary, 7 years strong.  May 15th is International MPS awareness day. We didn’t celebrate either date.  May 10th marks three years since Jonah’s diagnosis. We knew on our wedding anniversary back in 2010 that Jonah had an MPS we just didn’t know which one.  We tried to celebrate then, we went out for a lovely dinner which turned into a pathetic attempt of trying to conjure up some happiness.   A few days later Jonah was diagnosed, it was a horrific period in our lives.  In our education of the disease we learned it was MPS awareness day too.  We were both like... of course it is! You know how hard it is to rise to the occasion to celebrate an event that reminds you of the worst moment in your life.

Jonah has gotten so big and he’s such a cool kid.  He’s picked up the habit of giving you a thumbs-up, when he feels that you have done something good.  It’s quite an honor to receive that thumbs-up.  He’s turning into quite the little thespian too.  In the evenings he likes to reenact The Cat in the Hat.  He gives Jeremy and I our roles. I always start out as Sally, Jonah as the brother and Jeremy as the fish.  Once the cat starts his antics, the roles change. Jonah plays the roles of: Cat, Thing 1 and Thing 2.  His favorite part is when Thing one and Thing two run around the house, trashing the place. Fortunately the cat always picks up his play things.  It’s hysterical.

We’re so lucky that Jonah is doing so well. He’s incredibly happy, Jeremy is on break from work now and Jonah couldn’t be more delighted, he relish’s in having us both home together. I wish it could be like this forever.

So May 4th the run day.  Jonny ran 50 miles it took him almost 13 hours.  It was a beautiful day, nice breeze.  Jeremy, Jonah and I drove around with Jonny’s wife and son, trying to find Jonny on the trail.  At the first check point of 27 miles, 5 hours into the run, Jonny told Michelle that he was hurting real bad. He tweeted: “It hurts worse then Satan’s migraine.” Yikes! It was pretty hard not to feel guilty. At the 47 mile mark, Jonny was still running, we said hello, he ate some fruit and kept running.  Meanwhile we enjoyed the mountain, the boys played for hours.  The parents laid on blankets and watched the boys kick the soccer ball around. It was about 6pm when Jonny crossed the finish line. It was tremendous. Jonny was in good spirits, he made it!  He raised $131,000 dollars. Jonny has recovered now and is already talking about running the New York Marathon for JJB in November.  He’s trying to figure out how he’s going to raise the remaining $30,000 of his $160,000 goal.

The fundraiser kept me busy with promoting, interviews and eBay sales.  We’re still selling Oakley sunglasses on eBay, Oakley donated a 100 pairs of sunglasses to the race!!  We have already raised 5,000 and we haven’t even sold half of them yet!  We’re only allowed to make $5,000 in a 30 day period.  So we have to wait a few more days before we can start listing again.  Timex has also donated 25 watches for us to sale too!  This will help close the gap on Jonny’s goal.

The CNN interview also aired on the 4th.  We didn’t get to see it live, we were up on the Mountain.  I do have a DVD of it now, we’re trying to figure out how to rip and burn it so that we can post to YouTube, we need a 14 year old to help us figure out how. The interview was nice, it was cut short because of all the Boston backlash.  CNN let me write a blog to make up for all that was cut from the interview.  Which was really great, the blog actually had more of an impact that the interview!  You can still read it and see the clip of our family from the interview.  Can you believe I wrote a blog for CNN?  Or that my family was even on CNN?  Or that Jonny and Lucy Liu put in a good word for us and helped us get the interview? Never in a million years......

May 4th also marked the 50th Anniversary since Dr. Sylvester Sanfilippo characterized the manifestations of the disease Sanfilippo to the American Pediatric Society.  But before we could honor this milestone, to our astonishment Dr. Sanfilippo passed away on May 2nd! RIP.

Next to raising $131,000 and appearing on CNN, my favorite part of May was this article.

I’m really very proud of this article, the author Lisa Jarvis did a magnificent job pulling it all together.  If anybody ever wondered what exactly it is that I: eat, sleep, breathe and dream 247 it is mentioned in this article.  If you have not read it yet.  You must stop reading my rambling blog and read this article. There I’m not even going to tell you about the other projects we’re working on this month. This is your homework assignment.

p.s. Many people have expressed their gratitude towards Jonny. Please tell him how you feel, put it in a thank you note, and mail it to:
Jonathan Miller
c/of Jonah’s Just Begun
PO BOX 150057
Brooklyn NY 11215

At the 47 mile mark, Jonah waves Jonny on.
At the finish line!

Jonah and his fiancee comparing their cool umbrella's.

Tuesday, April 23, 2013

Life is unpredictable and I wish I could just get used to it.

Life is unpredictable and I wish I could just get used to it.

At the beginning of the month Jonah and I spent some time in OR. Our first day of vacation we had a beautiful fundraiser, a Bunco party and silent auction.  Which was held at our friend Ila’s Tea Room.  Ila and my Mom set up an event that could rival any Martha Stewart benefit. I thoroughly enjoyed myself. The energy was great, everyone was happy to be there, good friends meeting up and catching up.  It was a wonderful experience Sue (Aimme’s Mom, MPSIIIC) and I addressed the room and informed everyone of the amazing progress that we have made since LY’s Bunco fundraiser.  We had the room in joyous tears.

Later that evening, Melissa and I went to an awesome wine tasting event 20+ wineries pouring. We worked the room tasting wines and networking for JJB’s wine tasting event.  It was a really nice evening enjoying a glass of wine on the porch overlooking the vineyards.  A great way to start off a vacation....

The next day I saw on Facebook that my friends daughter passed away in her sleep.  Mia, MPSIIIC was just 19, her death took everyone by surprise and rocked our Sanfilippo community.  Mia was a character and her mom (Kimberly) an expressive writer, Kimberly shared with us hysterical Mia stories on our MPS forum.  I always got a big kick out of Mia’s antics.  Most recently, she had taken her classmates homework and crossed out their name and replaced it with her’s and turned it in. A kid after my own heart.  When Jonah was first dx’d Mia’s Mom was very good to me, she talked to me with kid gloves.  She didn’t bombard me with the harsh realities, she made me feel like we could get through this. As hard as it is to acknowledge the reality of this disease, I take comfort knowing that Mia went peacefully.

When we got home our focus turned to Jonny Lee Miller’s ultramarthon.  I’m still in complete amazement over this mans generosity.  Like Jonah, he’s one of a kind. He’s bending over backwards to help us. I know how hard he works, Jeremy works next to him behind the camera.  They easily put in 50-60+ hours a week.  Jonny has been training in his spare time running several hours a day.  He did a four hour training run a few weekends ago in the pouring rain. The race takes place the week that Elementary wraps.  They just found out that they have to work the Friday before the race and back to work on Sunday.  They’re working Sunday because Saturday Jonny will be running  the 50 mile marathon for JJB.  Then they go back to work!  Part me is overwhelmed with guilt and disbelief  the other is just so thankful and relieved.

After it was to late to find corporate sponsorship, Jonny put out a letter to all of his friends and co-workers, letting them know about the race and Jonah.  Yesterday JJB’s PO BOX was filled with checks one of which was for $10,000, from one of the biggest celebrities in Hollywood.

The night before the Interview with the View, Jonny told Jeremy that he couldn’t sleep he got up in the middle of the night and went over his talking points. Check out the clip, notice how determined and direct Jonny is about getting the point across about the race and why he’s doing it. I was so proud of him and honored that he took the time to understand the science and talk so passionately about the cause. I was overtaken by how genuine he really is.

On the East Coast the show was pre empted due to the Boston bombings. I’m going to refrain from commenting more on that day.  This month has been rife with sadness and anger. We have to try and find the bright side of life.  Otherwise we’re all doomed.

More good things to come. CNN is coming out from Atlanta tomorrow, Jonny got a couple hours off so he could interview with Dr. Sanjay Gupta the medical correspondent for CNN. The piece will be nice and robust. We get to tell our story and talk to the science, Jonny will tell why he got involved.  Seriously this is a dream come true, our chance for a full on interview with CNN, telling the world about Sanfilippo and the plight of the rare disease community. The kicker people will actually tune in because Jonny is bringing it to their attention. ha.  It will air the day of the race, May 4th.  So set your DVR’s.

Thursday, March 14, 2013

Scientists, Lobbiests, Flash Mobs, Stitches, Mouse Models, Jonny Lee Miller and BUNCO

WORLD-February 13-16th

The last 3 weeks have been non-stop action.  Starting off in Florida for the Lysosomal Disease Network (LDN) symposium- a profound experience.

-Sean’s ODDT poster describing our app was a huge success.  It could have been because people found it refreshing in comparison to the scientific posters.

-Having two presentations on type C was historic.

-The word on the street is that big pharma is finally taking notice of the Ultra Rare Diseases. Albeit baby steps, but at least they’re starting to ask the right questions.

-I got to meet with the Aunts of Alejandro a 26 year old type C boy from FL .  They drove 4 hours to come and say hi and meet Alexey and Brian.  We all went out for a beautiful dinner. I really enjoy just hanging with my scientists, fellow Sanfilippo parents and enjoying each others company.

-A genetic counselor at the conference sought me out.  She said that her geneticist had sent her to the conference to learn more about the science for Sanfilippo, specifically C.  She came across our ODDT poster and saw the type C reference.  My mouth dropped and my eyes welled up when she told me that her boss had dx’d sibling’s-  a baby and her older sibling with MPSIIIC.  I’m anxiously waiting for the family to reach out. I’m sad that they haven’t called yet, but you never know where the families are at mentally and emotionally.  It’s a hard blow to hear that not only one child has a fatal disease but both kids are dying.

-I had a great meeting with the potential PI for our NHS and JJB's adviser's.  I can’t wait to finally cross that project off my to do list.

-I’m very optimistic about the direction our science is going. We made an exciting connection at the conference, that has the potential to change everything. Sorry I have to be vague.

-I met a ton of new advocates, ready to dive in and fight for cures.  There were many more advocates in attendance then last year. We’re growing in numbers.

All in all I went home filled with optimism and ready to get back to work!


RDLA-LOBBY DAY-February 26th-28th

I wasn’t going to go to the Lobby Day this year, too much going on at home. But I had to cancel our WALK which would have taken place this past Sunday.  Working with NYC Parks and Recreation is as stressful as trying to put together a NHS.  So I dropped that venue, which left a window of opportunity to go to DC and tell my MOC’s (members of congress) whats what.

I met up with 140 other advocates (double that of last year) in D.C..  Our mission was to represent rare diseases and tell our members of congress to stop secrestration. We gave it our best shot, but it still went into effect. 3.6 Billion Dollars will be cut from programs like the FDA and NIH.  I have yet to receive any funding from the NIH and it’s not from a lack of trying. I’m thinking I need to focus my gold digging efforts elsewhere.

While in D.C. I was lucky enough to have a brilliant journalist (Lisa Jarvis) from Chemical and Engineering news. shadow me.
Lisa is writing a series of articles on advocates and the roles we play in R&D. Hopefully she’ll make me sound intelligent, can’t believe I’m going to be quoted in the C&EN journal. Ha!

Thanks to the RDLA for organizing a historical event for the patient advocates on Capital Hill.  And a  delicious thanks to our friends at the Darlington House who kept us well fed and entertained.



Our Rare Disease Day Flash Mob was soooo cool, well the security guards outside the Atlantic Avenue commons didn’t care for it so much... Whatever.  The mobbers had a blast and we made a big purple splash on unsuspecting passer buyers.  The mobbers were so ramped up to do it again that we decided to run down 5th Ave (Brooklyn) to our crowded Sunday Farmers Market that’s adjacent to the newly redesigned playground.

Just before we busted out our FM on unsuspecting tot’s and their parents, Jonah fell.  He took a nasty cut to his forehead.  When I rushed over to him I could see the bone. ugh We ran to the ER, just a few blocks away and Jonah received 15 stitches. Jonah is healing nicely.  I’ll spare you all from the gory details. 

Our Flash Mob crew is demanding a re-do.  Now that everyone is over their first time gitters and has worked so hard at learning a hip hop dance, we all want to do it again and again!

Thank You Amanda for teaching us all to dance and thanks to all the supporters that braved the cold and insecurities to raise awareness for Rare Diseases!


MOUSE MODEL- For MPSIIID- February 28th

Over the Holidays I sent in an application to win a mouse model.  Some people try to win cars I try to win mice. To my surprise JJB was chosen to win a Sanfilippo Type D mouse model!  The Assay Depot in collaboration with the Rare Genomics Institute offered rare disease organizations the opportunity to win free research and technologies, 19 companies donated their services totalling over $500,000.  JJB won the grand prize!
We also won services from CDD (Collaborative Drug Discovery), we will use their software to manage findings from drug screens.  I was so excited when I saw that we won I screamed and jumped up and down, as if I just saw a mouse, but more excited then freaked.

Sanfilippo D doesn’t have a mouse model, this win will go a long way to furthering the science for type D!  Our friends at Ben’s Dream had been in talks with a scientist to start this work.  Fortunately they hadn’t started the work yet; we had the opportunity to touch base about the model at WORLD. Stuart and I even ran into a scientist that was wanting the mouse ASAP.  Very Cool! We’ll all be able to work together on this, meanwhile we’ll save precious dollars that can go to other projects.  When I say this was like winning a car, I mean it.  These mice don’t come cheap!


JLM- Jonny Lee Miller- NOW

Hopefully you all know who JLM is?!  Jonny play’s Sherlock on the new hit drama ‘Elementary.’  Jonny upon learning about Jonah’s condition immediately started thinking about how it was that he could help.  Jonny is an avid runner and has ran for several causes in the past, so he offered to run the Bear Mountain Challenge in JJB’s honor. The run is this May 4th in the Catskills of NY.

I went to see Jonny on set last month, where I explained to him what it was that we needed and our mission.  He couldn’t have been more respectful, genuine and actually humbled by our experience.  We discussed the run... I tell you guys, I’m absolutely blown away by what Jonny has offered to do for us.  I’m not going to give it away until the actual press release.  I’m still in shock and I just want to see it all in writing before I start blabbing.

We haven't even announced the run and people are already donating to JJB for Jonny's run!

BUNCO for Sanfilippo- March 23rd, OR

In a few weeks Jonah will be on Spring break.  We’re heading to OR for some much needed family time.  Jonah has been saying since Christmas: “Now it’s time to go see: Grandma, Aunt Jennifer, Sydney, Elliott and Campbell?”  Today I had to take out the calendar and start marking down the days until we leave. It’s a good opportunity to teach him about the days of the week and month.

While in OR, we’ll be attending JJB’s 3rd annual BUNCO party, March 23rd.  A sweet fundraisers with lots of delicious pastries (by Ila) and gambling, ha. Not really for $$ the $25 donation goes to JJB, but winners do get a door prize and knowing my Mom you’ll be happy.  Good times, with good friends, can’t wait to catch up!  Check out our new website for details!

But BUNCO players in the mean time...

Catch up on Elementary, you can watch the previously aired shows on, to know Sherlock (Jonny) is to love him.  He is by far and away the best actor I have ever had the pleasure of watching and meeting.  The show airs on Thursday on CBS at 10/9c. You’ll want to know all about ‘Elementary’ when I share the campaign that Jonny is launching for us.
Our poster

Sean showing people how the ODDT app works.

Alexey Pshezhetsky and Stuart Sideman
Flash Mob
Lobby Day, Capital Hill with fellow advocates and Congressman Timothy Bishop
Me and Jonny Lee Miller on set of Elementary.

Thursday, February 14, 2013

Greetings from Sunny Florida, WORLD Symposium 2013.

Sit by me for a second, I want you to hear this.

Yesterday I sat in a huge auditorium listening to Alexey present his findings from our mouse model.  The timeline of the disease progression- at three months our mouse exhibits fearlessness is anxious and hyper.  Six months cognitive slow down and 12 months death.

He then shows his movie of our type C mouse side by side with a healthy mouse.  In the video we watch how the healthy mouse is careful to just run the perimeter of his box, not daring to leave the security of the sides and run out in the open. On the other side you see our darling type C mouse darting back and forth without a care in the world and no fear of entering the open area.

It’s hard to watch and hear, the entire audience is looking at this poor mouse, what are they thinking? Just then my sitter sends a picture text.  There’s my Jonah at the playground. Sure he has no fear and he’s probably making his sitter run for her money.  But that’s our Jonah happy, full of life and by all appearances totally healthy.  This is my son, he’s not that mouse.  We're all in an agreement right?  We have to make our treatment happen and fast.

By the way our new site is up. :)  Check it out.


Wednesday, January 23, 2013

The Cat's out of the Bag

If you were paying attention to my FB posts you’d know what my big news is... The cat’s out of the bag!

Valentines Day I’ll be in FL at the WORLD conference.  The conference is sponsored by the Lysosomal Disease Network (LDN) and the National Institute of Health (NIH). Three years ago, Jeremy and I went to this conference, it was the first time that I met many of our current scientists in person. Way back when, I shared my experience about our first WORLD conference and our meeting with Brett Crawford, co-founder of Zacharon. Brett’s son was at the conference, Brett introduced his son to Jeremy and I as the parents of a child that he was going to help save....

Today Zacharon has changed hands twice, first they were sponsored by Pfizer to help fund their treatment that would be developed for Sanfilippo and our sister diseases.  A few weeks ago Zacharon was acquired by BioMarin.  When I asked Brett if he was happy about the merger, he responded simply: “It will be good for the MPS program.”

There are so many up’s and downs in our journey.  Many day’s I just want to cry.  Two and a half years ago Zacharon had the first potential treatment in the pipeline for Jonah.    We had so much hope that it would be available today.  Now I have no idea where it stands. We can only hope that BioMarin takes it to the next level and fast.

The good news.  At this years conference Sean and I have been awarded a poster presentation.  Meaning we will have an actual poster featuring the ODDT app (click the picture on the side bar) and how it works for rare disease groups like Jonah’s Just Begun.  I have always wanted to be the Mom with a poster between all the PhD’s.

More importantly Alexey Pshezhetsky, our primary investigator and his post doc Carla Martins will both be presenting their findings on our mouse model.

Alexey’s talk is titled: “Mouse Model of MPS III type C Defines Pathophysiology of the Disease.”

Carla Martins talk is titled: “Evaluation of Brain Inflammation and Cognitive Abilities in the Mouse Model of MPS III Type C.”

I’m so thrilled that this evidence is being presented and I'm very proud of our scientists.  This is a great honor and a huge mile stone for us.  Three years ago there wasn’t a single talk on MPS III C, now there are two!

Alexey wasn’t at the first WORLD conference that Jeremy and I went to, but Brian Bigger was.  A trip down memory lane, how it all began.... It was at WORLD 20120, that we began the talks with Brian about conducting our gene therapy. 

A few months later JJB flew our scientists out to NY for a patient population meeting.  JJB and JLK had just granted Alexey a bit of money to hire a post doc and get started on our chaperon therapy.  At the patient population meeting, Alexey informed the rest of the group that our mouse model was in the works and that he had just applied for a huge grant from the Canadian Institute of Health.

Alexey was still in need of a post doc, unable to find a suitable candidate.  Raquel passed on the CV of a post doc that came highly recommended from the Portuguese lab that diagnosed her daughter, Joana.  So I passed along Carla Martins resume to Alexey.  They met and Alexey hired her!  Now look at where they are!

Alexey did win the Canadian grant for $650,000.  He attributes his winning the grant to the fact that he had the family support. Carla was able to continue her post with Alexey after winning a full scholarship from the Portuguese government. Today Carla works full time on our chaperon therapy. 

In a few weeks I will be sitting in an auditorium full of scientists and filled with hope and pride as I listen to our scientists describe their work on our disease to the rest of the scientific community.

Here is the clip that announces our trip to FL.

We have come a long way but we have so much more work to do.  Yesterday Sean and I had a conference call with Genzyme, another huge drug company that supports treatments for rare diseases.  I guess I should be honored that the VP’s of Genzyme wanted to talk to me.  There were six of them on the line.  They all had the chance to watch the above clip above. 

One of the VP’s said to me that his jaw dropped watching that video he was in awe of everything that we had done.  That was a nice thing for him to say, but it means nothing without a treatment.  Genzyme was on a fishing expedition, we can only hope that they are thinking about expanding their rare disease department to include ultra rare diseases.  They asked me a ton of questions.  They were very respectful and treated me as an equal, not a desperate Mom.  Not once did anyone ask me how Jonah was doing, I actually like that.  The phone call was business.

One thing resonates through me, one VP kept saying: 'Wow... We consider an Ultra Rare disease to be 1,000-5,000 patients.  Your disease is ultra ultra rare."

I have such a huge chip on my shoulder about our patient population.  Another VP followed up with: "How is it that you think a treatment for your disease would be cost effective for a drug company to invest in?"  So I gave them my elevator pitch.  Nobody said yeah or nay.

They gave me information about their future research endeavours, that will someday be beneficial to our kids.  They promised to help me anyway they could and would follow up with me.  But they did not make any promises on how they would help me. I told them exactly what I needed... What more could I say to them?  I take stock in knowing that we’re on their watch list.

I’m knee deed into promoting and planning for our FlASH MOB for Rare Disease Day. 
I’m working with the Global Genes Project to help me find other rare disease advocates in my area that would like to participate in our Flash Mob and unite in raising a voice for rare diseases in general.

All the projects that I have been working on over the past few weeks have really got me thinking about the importance of having our government support our research and allocating more federal dollars to the NIH for grants to diseases like Sanfilippo.  Thinking about Alexey’s work, he won that $650,000 grant from the Canadian government.  Carla was able to continue her work with Alexey because of a scholarship that she won from the Portuguese government.  I have applied for two NIH grants from our government and didn’t win either.  Having Genzyme ask me how it was that I was going to convince someone to sponsor our drug development.  Our government has got to intervene.  We can’t do this alone.  I haven't had a benefactor offer me a few million and Ive been searching.  I strongly suggest that anyone who can make it to the RDLA's Rare Disease Day-Lobby Day to go.  They will give you the opportunity to experience capital hill and talk to your members of congress.

This is why the FLASH MOB and World Rare Disease Day is so important to me, we have to unite and raise our voices.  Make an impact on the voters, show them what we need and why we need it. There are 30 million Americans suffering from rare diseases.

Last Sunday was our first rehearsal for the Flash Mob and it was a blast!  The dance was super easy, when broken down and taught to us by the choreographer. I hope that we can gather at least 40 dancers to join us.  If you’re in the area, please register yourself for the event and come and meet up with us for at least one of our rehearsals, you’ll be surprised at how good it feels to take part in something that can make a difference in the lives of so many.

Follow this link to register and to learn about the logistics. xo Jill