Follow by Email

Saturday, February 25, 2012

It's all coming together.

Bit by bit the pieces are falling into place.

I’m happy today Jeremy and Jonah come back from a visit from Grandma and Grandpas. I can’t wait to see my boys, the apartment is to quiet without them. The bed to big and the floor to clean. It was nice at first, got lots of work done... for tomorrow we head to DC for a few days.

Two years ago this week we took Jonah in for his MRI, we assumed it was a waste of time. But just in case we followed our Pediatricians advice. It wasn't until May that we got the ultimate diagnosis. It’s quite the coincidence that National Rare Disease day is February 29th (rare date) and the National MPS Awareness Day is May 15th. February 29th also happens to be our friend Joana’s 8th Birthday. She’s an ultra ultra rare child and a blessing to all of us. Happy Birthday Joana! See Joana's Birthday wish (if you read Portuguese). View Aunt Kelly's fundraiser in honor of Rare Disease Day.

February has been an extremely eventful month for us. We’re going to DC to celebrate the National Rare Disease day. Congress will be in and parents and patients from across the country will be gathering to lobby for the ULTRA-ACT and now TREAT, which was introduced to the Senate last week by Senator Kay Hagan. This act has almost the same language as the ULTRA act and is supported by the FDA.

Shot out to my dear college friend Lena who is actively disabled by a rare disease. Lena addresses the ULTRA-act in her new blog. Check out her site.

Last weekend our 2nd Annual Charity Bazaar hosted by the Park Slope mom’s club took place. You have to check out the pictures to get a full understanding of the scope of this event. It was a lot of hard work and I thank all the volunteers for working their butt’s off! My neighborhood Mom’s made it a fun and well organized event. It was a blast, we had live music and an amazing face painter for the kids. Parents shopped and filled their bags full of great finds at ridiculously low prices. We raised close to 5k and lots of smiles.

Now we’re in the middle of promoting our first annual WALK-A-THON. I’m thrilled to have finally gotten a date and venue for our walk at Prospect Park. The cost of permits are crazy and date at Prospect Park is coveted. I was given the date last minute and despite the craziness of this winters activities I took it. The WALK is only going to grow year after year. If your in the area or know someone in the area please help us promote the event.

“We’re walking... so our Sanfilippo children can run.

March 11th, check in is at 9:00am, the walk starts at 10:00. So grab a coffee and bagel and meet us at the entrance of the “Bartel Pritchard Circle” 15th st and Prospect Park West. I’m hoping that the congressman Ed Towns will stop in and talk to us about the ULTRA-ACT. Did you see his comments about our family when he addressed the floor? Check it out.

Follow the links for all the details.
To register online:
Invite your friends to our FB event: Walk with us.
Those out of the area can sponsor Jeremy, Jonah and I on CAUSES: Walk with us.
If your walking with us, we suggest creating a CAUSE WISH too.
Download the sponsorship form and registration form from our website. Jonah's Just Begun

Note: JJB can’t take cash on the park grounds without a permit. With the short notice, I didn’t have time to get the permit. To get around that you can mail your fee and sponsorship forms into our PO BOX prior to the event. Or register online and pay the fee there. I’ll also have self addressed and stamped envelopes at the event that you can take and drop the check in the mail.

Jonah’s Grandma Janet is hosting a Bunco party at the Maley’s Mercantile Tea Room, Willamina OR on March 17th @ 1:00pm.
To RSVP email my mom at
For more details:
Join the event and spread the word on FB: Bunco for Sanfilippo
How cute is this letter from Jonah’s cousin....
dear grandma,
a couple days ago I thought of an awesome idea for the Bunko party you were talking about.
my idea was that I could sell my crafts including tissue paper flowers, pom pom pets and my knitting
things at the bunko party. I would donate the money I make to Jonahs Just Begun. do you think this is
a good idea?do you think I should not sell one of the things I said? should I make the things certain colors?
how much should I make of each thing? Please send me an email back and/or Skype with me so that I can
show you what I have so far!!!


The other reason why I’m so happy today... besides Jonah & Jeremy coming home and our exciting trip to DC tomorrow. I just got word of the proceeds that Belen of Sanfilippo Barcelona received from the HEROES book benefit sponsored by the worlds best soccer players (Andres Iniesta.) Remember last Spring Jonah and I attended the press conference in Madrid for the opening of the event?! Bare with me why I relive the moment. Jonah, myself and our translator arrived the day of after a long red-eye to Madrid. We dropped off our luggage and brushed our teeth, then grabbed a cab to the stadium. We arrived in the nick of time. The room was packed with every Spanish press representative imaginable. The panel: Belen, Andres Inesta, and sponsors addressed the press and took questions. At the end Belen announced Jonah and I, her Sanfilippo friends and partners all the way from NYC. The press went wild snapping pictures left and right of Jonah and I with Andres. I gave my speech in English to the room of Spanish journalist and tv networks. The moment was SURREAL! So anyhow, we recieved 67,000 Euros for MPSIIIC medical research. That’s $90,000 USD! Raquel, JJB’s VP also confirmed that her bank contact in Portugal is donating $6,000 Euros to JJB that’s $8,000 USD combined with the Charity Bazaar proceeds another $5,000 USD that’s $101,000 in proceeds this month, not to shabby. It’s a good thing too, our 2nd installment for our gene therapy is due March 1st for $89,000. I’m so happy, I can see the light at the end of our tunnel.

Everything is falling into place. Our first ever gene therapy should come out of the lab in two years. By then we will have gotten the new provisions added to the Orphan Drug Act, which will accelerate the FDA approval process. We will make sure of that on our trip to DC. With any luck Jonah will be in clinical trial in three years. The amazing thing... our grassroots organizations: JJB, JLK, SF Barcelona and SF Sud did this! We’re also all still holding out hope for the Zacharon/Pfizer trial to take place before then. Now all we need is our Natural History Study to happen. I have a plan for that details to come. Be the first to hear our big plan at the WALK!

RIP Randy Fredrickson. A good friend and dear father to our best of friends Melissa and April.