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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.

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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.
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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. http://abcn.ws/1hdlinQ



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....


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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