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Wednesday, May 14, 2014

I take it back!

I take it back.  The other shoe has not dropped, it’s back on and Velcro tight.  We had Jonah’s adenoids taken out in March and it has made all the difference in the world!  For the first time in a year Jonah can actually breathe out his nose. He has had a sinus infection every month for the last 7 months, but not now.  He’s all better.  The operation has made a major difference in his personality.  We’re in a state of shock and I hope I don’t jinx it, by bringing it up.

It’s been a pretty amazing month.  Dr. Cao’s run raised over $11,000! Our friend Pyare is doing his first half marathon on Sunday and he is only short $300.00 for his $3,000 goal!  https://www.crowdrise.com/bkhalfforjjb/fundraiser/jonahsjustbegunfound

Jeremy’s cousin hosted her first fundraiser for JJB too! Our sister organization Levi’s Live Love Laughter has been extremely busy pulling together a golfing fundraiser, in honor of MPS awareness day, there are dozens of golfing events going on all around the world, our goal is to raise a million dollars in 1 day. https://www.facebook.com/events/678415762168439/  Sunday is going to be a huge day and I wish Pyare and my sister organizations all the luck in their endeavors!

Tomorrow is MPS awareness day.  It’s a day for everyone to wear purple and share their story of how MPS affects them or someone they know and or love.  Jonah’s school has sent home a note with the kids and emailed all the parents asking them to send their children to school in purple.  I can’t wait to see the turn out.

All this help during this time is extra special.  This week marks the 4th year anniversary of Jonah’s diagnosis.  Four years....  For the first time in four years, I’m feeling like we’re in a really good place. It’s truly all coming together. It’s a massive amount work, but now we have a dependable and generous team supporting us.  Furthermore I had the best Mother’s day ever, we took Jonah to the lego store at Rockefeller center, I stocked up!  Then we had a really nice dinner, just the three of us.  Jonah was on his best behavior.  For our wedding anniversary, Jeremy and I actually got a sitter and went out for a lovely meal. I’m feeling a bit spoiled.

This weekend Jeremy, Jonah and I will be doing our part in planning our next fundraiser.  We’re heading to MA to visit Ben’s Dream and the JLK-Sanfilippo Research Foundation.    We’re making a short clip on our three families.  After a few nights in MA, enjoying time with our close friends, we’re heading to Montreal!  As luck would have it our primary investigator for gene therapy, Brian Bigger from the UK will be visiting Alexey’s lab.  We get to film Alexey and Brian together in Alexey’s lab!  How fun will that be?! I don’t know about you but I’m super excited to see Alexey's lab in person, while Jonah get’s to meet his entire lab. It’s going to be a really special reunion, I just hope we can capture the emotion on film.

This month hasn’t gone by without some tears.  There is a new MPSIIIC diagnosis also in MA.  The boy is 13!  It’s a classic story that we hear way to often, the boys family knew in his preschool years that something was off, after two rounds of genetic testing coming up with nothing.  The family was just told: “I’m sorry, for some unknown reason your son has brain damage.”  The parents adapted to their new normal, they luckily have a good school system and are receiving a lot of services for him.  Lately, their son has grown more and more aggressive: “like an ADHD child on steroids.” Making it extremely hard on the family to control him.  The mom started searching for answers again and they came back with MPSIIIC. 

We’re going to meet the family along with a third type C family while in MA. It will be difficult seeing all the kids in various different stages, one of the families has two sick children the mom was pregnant when her older child was dx’d, she’s now 17mo and the youngest known MPSIIIC child in the world. I’m really looking forward to holding her and looking into her eyes.  I want to tell her that we’re going to save her...  Is that ok?  Or should we wait and see. I’m so tired of waiting.  For the Sideman’s the waiting for a treatment for Ben is over. Our interview- with Nancy and her three girls, me and young Jonah and no Ben... There’s no doubt in my mind that we will paint a compelling story. I HATE having to tell it.

Speaking of a compelling story, here’s the clip from mine and Jonny’s trip to DC, where we spoke on a panel, preaching to our legislators for the need of federal dollars and incentives to spur the treatments for rare diseases..... I start talking at around 40min. I suggest you watch the whole conference, the panelists tell a really good story and they set the stage for my speech. I can’t even begin to describe to you how nervous I was, I was wound so tight I thought I’d explode.  Jonny was cool as a cucumber, I couldn’t have asked for a better coach. Having him next to me, supporting and encouraging me... I don’t know that I could have gotten through it without his advice.
http://www.youtube.com/watch?v=NXRG-qmBY1k&feature=share&list=UUL155EYAyLhYiPe-a1PbXTw&index=6

For my Throw Back Thursday clip watch this... It gives perspective how far we have come. Four years ago, it feels like a life time.  I plan on being in trial in the next four years... come hell or high water we will get there.
http://www.youtube.com/watch?v=kdFWS21EH5c&feature=share&list=UU2DPEYfkEZUUpEJuCHwP1fQ&index=4

Don’t forget to wear your purple tomorrow.  Tweet us pictures @JJB4CURE #MPSIII  Help us raise awareness. Who knows you might just help diagnose another child.