Insight from a good friend. Justine gets it, she really gets it.

A few months ago, I stepped off an elevator in Brooklyn to find a beautiful blond haired boy with an infectious smile singing a song as I walked towards him. You would never know that this was the first time that we had met. You would never know that one year ago we were total strangers. You would never know that a rare genetic disease could end his life, long before his time. But, then you would surely not know Jill, his mother, who is fighting with every ounce of fight that a mother has to make sure that this does not happen.

Insult to Injury #PDUFA #FAST

You all know how hard our rare disease community has been working on getting this language added to PDUFA:

"Considerations. – In developing the guidance . . . . the Secretary shall consider . . . . for drugs designated for a rare disease or condition under section 526 of the Federal, Food, Drug, and Cosmetic Act; and (2)how to incorporate novel approaches to the review of surrogate endpoints based on pathophysiologic and pharmacologic evidence in such guidance, especially in instances where the low prevalence of a disease renders the existence or collection of other types of data unlikely or impractical"

This week/month/year...no rest for the wicked.

This week/month/year... no rest for the wicked.

Monday we kicked off the “Pay it Forward” campaign. The HS students at LIFE academy for Music and Film in Brooklyn has honored JJB, by asking us to be the recipients of their Pay it Forward campaign. The students at LIFE academy came up with a great idea to bring their community closer while helping others. The students are planning several fundraising events. They’re selling colorful paper hands (helping hands for Jonah), then placing the signed hands down their hallway at school. On the other side of the hallway the kids are placing paper bricks, creating a brick wall. On each brick the student writes a good deed that they performed. The choir is putting on a a talent show modeled after “America has Talent.” Their version “LIFE academy has talent” (view the event here) Many of the students will be sending out Cause wishes in honor of JJB-Helping Hands for Jonah. The HS students will present JJB with a check on graduation day. Their goal is drum roll please... $10,000! JJB set up a cause wish as well (view it here), to help them out with their ambitious goal.

Happy

I’m happier then I have been in a long time. Figured I should document the day with an update.

Just got off the phone with our partner in crime, Paul Burke of the JLK-Sanfilippo Research Foundation. Thanks to JLK our science is expanding, well our scientist Alexey had a lot to do with it too. JLK just funded Alexey’s new project.

I feel calmer... sigh of relief. The project is a few years out and it’s never a for sure that Alexey’s hypothesis will work out. But I have hope and no matter what our understanding of the disease will be better understood.

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.

Rare but Strong Together, by Aunt Kelly

My name is Kelly Weishaar. I am married to Jeremy's brother, Peter. I am Jonah's aunt. He is my only nephew and my children's only cousin.

I live in upstate New York, far away from the excitement of the Big City. Also, far away from Jonah, Jeremy, and Jill. Many of Jill's blog readers will understand the feeling of "helplessness" experienced by the family and friends of the people who are diagnosed with, or raising a child with, a rare and deadly disease. My family is too far away to show our support by attending fundraisers, hanging up flyers around the neighborhood, or flying across the country to attend conferences with the scientists who will eventually find a cure. We would do these things, if we could, but it is not a possibility.

Hi Friends...

Today Congressman Ed Towns went before the House and spoke on behalf of our family and all the other families afflicted by ultra-rare diseases. Here is the clip to the 5 min speech he gave in support of the ULTRA-ACT.
http://www.c-spanarchives.org/appearance/601249385

I can't thank Congressmen Ed Towns and Cliff Stearns enough for shedding some light on our situation! Today I'm re-posting the blog about the importance of the ULTRA-act. Please read and show your support by letting your Congressman know how important this legislation is to our Nation.

Please support the ULTRA act!