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Thursday, August 7, 2014

Celebrate Good Times!

I feel like celebrating, for once the rest of the summer is going to be smooth sailing (knock on wood).  All of JJB and PN’s major projects have worked themselves out.  I’m actually thinking of taking some time off!

Jonah has been doing very well, I just want to pinch myself I can hardly believe it.  He turned 6 last week and has no signs of regression.  Scholastically he’s not keeping up with his peers, his report card would have sent the ‘typical” parent into panic mode, but not us, Jeremy and I were giving each other high fives.  We have been grinning ear to ear this Summer.  Statistically Jonah should be down to just a few word sentences and not following any direction, running all over the place wrecking havoc wherever he goes.   Yet, he’s still sleeping soundly, he stops his scooter at street corners and walks through the intersections with me!  It’s absolutely amazing.  I’m not sure why we’re so lucky, I can attribute a lot of Jonah’s success to his early diagnosis, which gave us a chance to institute early intervention.  In case you haven’t heard this before... Dr. Cao is our HERO. 



Since 2012 when Jonah’s blood work came back with elevated enzyme levels in his liver, we have had him on genistein. Raquel, convinced me to put Jonah back on it, attributing the genistein to helping restore Joana’s elevated liver enzymes back to normal.  Jonah’s liver is now back to normal too... Ive discussed genistein lots of times in the past, so I won’t re-cap what it is, for more information go here. http://jonahsjustbegun.org/sanfilippo-clinical-trial-high-dose-oral-genistein-aglycone/ 

Recently the genistein trial hit a speed bump, after loosing a major donor.  Which has left our consortium scrambling to figure out how we can financially help keep the trial on track. 

If genestin is proven to be an effective treatment for Sanfilippo it would be able to go straight to the shelf, in the US genistein is FDA approved as a food supplement, women use it for menopause.  Jeremy and I were paying $500.000 for a month supply, insurance doesn’t cover it, recently we found a new pharmacy that would order it for us at a much less expensive price, $1,000 for about 3months.  Unfortunately the manufactures supply is now gone and they have not said if they will make more or not. 

Many parents would have me believe that I can attribute Jonah’s stability to the use of genistein, however I remain a skeptic and I want proof!  But even I can’t deny that for some reason Jonah is above and beyond where he “should” be.  In a few months we will be out of genistein.  What if Genistein is really helping our children? We have to find out!

Does this make sense?  We have paid $6,000 a year for almost three years for genistein thats $18,000 USD, my best guess estimation is that at least a 100 children in the US alone are taking genistein, that amounts to almost 2 million dollars spent on genestin over the last three years. The current trial is budgeted at 650,000£ and they will have results within 2 years.  If successful- genistein would immediately become an FDA approved drug for Sanfilippo and our insurance companies would have to cover it. We literally can't afford to see this trial fail.

The Purple Lemonade Stand, a fundraiser created by Grey, Blair’s (MPSIIIB) little sister. What started out as a cute neighborhood lemonade stand has turned into a STAND that raises tens of thousands of dollars over the summer season!  With the forthcoming gene therapy trial for type A and B coming up, the sanfilippo community is directing their focus to ensuring that this trial goes as planned.  MPSIII families are taking their fundraising efforts to a new level, pulling out all the stops. Check out “Team Nola’s” facebook page for some hysterical old school fundraising efforts.  For example, tying up a goat in your neighbors yard, making them donate to remove the goat....Hysterical!   FYI there isn’t any grass on our avenue....grass that grows in the FRONT lawn anyways.

JJB was asked to participate in the what is to be the Purple Lemonade Stand (PLS) phenomenon. If there is one thing I can get behind it’s an old school lemonade stand.  Brings back memories of when my sister and I would set up a lemonade stand on the 4th of July in front of our church, the stopping point of my towns annual fourth of July parade. Side point, by Brooklyn standards Willamina is more of a village then it is a town, it’s kind of like a park, but think half the size of Central Park i.e. Prospect Park, with more trees and squatters. Churches to bars remains equal. 

JJB hosted it’s first PLS over the 4th of July weekend on the Jersey Shore. Aga, our new intern lives in the neighborhood.  It was the perfect spot on the perfect day except for the fact that people don’t carry cash when going to sit on the beach, live and learn Regardless it was a lot of fun,  our stand was super cute and everyone that walked by stopped.  I stood by and answered question about “the charity”.  I remained incognito, I’m a sales person by trade and I know my stuff.  As long as nobody knows that my stuff is personal then I can sell it with a smile.


Then came our next PLS gig, in my own neighborhood. The perfect location- our neighborhood BID (Business Improvement District) program set numerous dates for street fair parties for the neighborhood.  BID shut down traffic between 6 blocks including our block, the vendors set up fun kid friendly stands in the street. Our neighbors came out to participate in the festivities. We danced and played in the street, fire hydrants were opened up for water play, restaurants brought tables out and served us. It was the perfect venue to introduce JJB to the neighborhood and raise funds by selling lemonade.  I backed out of participating.

I ask you... What would you think of a women a mother standing in the street asking for your change, to help save her son?  Then to realize that your child goes to the same school as her child, come to think of it you have met her at the playground where we talked about our kids.  Would you walk on by and pretend you didn’t see me?  Would you walk up to our stand and happily buy a cup of lemonade and drop a $20 in the donation jar?  Would you wonder... How does she stand on the street with a smile on her face and tell people that her son dying?  Is there something wrong about this scenerio?  For me it was unnerving so I called it off.  Next year, I hope to have volunteers (moms like me, minus the terminally sick child) out there representing JJB. 


Think about where you can set up a stand now: town picnic, fair, sporting event, at a stoop sale or garage sale or just on your street.  Last week Katie Couric interviewed Ed Norton (the creator of crowdrise)  Our Purple Lemonade Stand was featured at the very end of the interview!  It was referenced at how children can get involved in fundraising and supporting causes. Check out JJB's PLS crowdrise fundraiser, hit JJB’s profile and create your team now.







I’m dedicating this blog to three extraordinary women that fought for life and have been rewarded with a second chance.  My Aunt Barb had a massive heart attack last week, she stopped breathing for over half an hour, the EMT’s were on the verge of calling time of death.  Aunt Barb looked death in the eye and told him to KICK ROCKS!  Not even a week later and she’s on her way to what we think will be a full recovery!!! CELEBRATE LIFE!  To our dear family friend Carole, whom discovered her on very rare form of breast cancer, she insisted that her oncologist dig deeper when a mammogram showed nothing.  Weeks later Carole underwent a mastectomy and is now finishing up with chemotherapy.  You go Carole!  I saw a breast cancer T-shirt the other day and thought of you.  It said FIGHT LIKE A GIRL.  To my mom, who has lost over a ONE HUNDRED pounds and is looking forward to having the loose skin removed this fall.  A whole new body and leash on life. Awesome!  I’m so excited for her.  The other day a man in the Staples line struck up a conversation with me, he told me how he lost a 100 pounds with a lap band.  I told him about my Mom and he asked if she had a lap band or gastric bypass? As if these were the only ways to loose weight.  I said no, she lost it the old fashioned way.  He responded, oh yeah how’d she do it?  Um diet and exercise. He was SHOCKED!  I’m not even going to go there. Aunt Barb, Carole and Mom, I’m so glad you guys are going to be with us for many many more years, your children and grandchildren need you!
Aunt Barb and cousin April at Bunco fundraiser.
Carole on left was our auction table volunteer.
Our Mom on her way to dropping a 100 pounds!