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Wednesday, January 6, 2016

I take take take

I take take take from my friends, family, neighbors and strangers.  I rarely return the favor anymore. I used to be that person that ran to the aid of friends, you could count on me to help. Now my friends don’t even tell me when they get into car accidents. Everybody is scared of adding anything stressful to my plate or they feel like their problems are trivial to mine. My sister had me rolling in stitches last week: her car broke down, her cell phone died, mom’s making her crazy (it goes both ways), her renter gave her 30 day notice that she was moving the week before Christmas.

She’s broke and can’t even afford a bottle of woe is me wine. She turned it around with: “Hey at least I have my health, my house and lots of beautiful things surrounding me. Iv’e been working out, since I have nothing better to do and nobodies dying here.”  To know Jennifer is to love her.

She also mentioned how annoyed she was that she couldn’t find her colander.   Poor Jennifer, her apples have no place to rest.  Seriously these are the stories I love to hear, albeit only on occasion. They take me back to when I had a typical life. I really miss those days.

Jennifer will be pissed that I recanted her rant.  For now I have a get out of jail free card.  I ask myself how long will this last?

I solemnly swear that I will payback my debt to society, once we have a treatment for Sanfilipp Syndrome.   I do do the best that I can to help others in need. Unlike my husband, I give money to homeless.  I say, who cares if they spend it on booze?!

I have been getting a lot better about putting Sanfilippo aside and focusing on enjoying Jonah.

This year, the first in five years I made an attempt to take back Christmas and embrace the Holiday.  I decorated with winter wonderland plants and Jeremy made the most astonishing snowflakes.  I took Jonah and his friend to the city.  We did the town, Rockefeller center, the tree, dinner and the lego store. Then to Macy’s, their windows are a must see! The Christmas music resonating from Rockefeller center, was it coming from Saint Patricks Cathedral?  I couldn’t tell, the streets were alive with music… The abnormal spring like weather was a bonus too.

















After spending an hour enjoying the Peanuts display in Macy’s windows we went inside. The ground floor of Macy’s looks like a pinball machine laid flat.  The makeup tables a maze to run through, the makeup artists being the arms to bounce off of, Jonah being the ball. Bing bing bing.

The 8th floor, Santa’s floor, a walk through bridal and fine china.  What were they thinking?!  What was I thinking?! JD bought Jonah a gum ball, they watched it wind it’s way down the cylinder tube, Jonah’s first gum ball, mammoth and bright purple.  He’s never even had gum before. He held the ball, not sure what to do with it, he licked all the food coloring off first, smearing it all over his face and hand.  Then he stuck it in his pocket.   Across the isle a $10,000 dollar white wedding dress.  Wow it was beautiful, Jonah memorized made his way towards it.  Me screaming STOP Jonah STOP. Before I could reach him, he ran his fingers through it’s luxurious plumage with his cleanish left hand.  We still had to get through fine china!  I used to work for Macy’s, I know what happens to kids that break dishes…. Nothing. It’s just embarrassing.

I was well aware of what the Santa line was like at Macy’s, I had checked it out before and turned around and left.  This time I walked straight up to the front, and told the Elf that I had called ahead and the department manager said I could just tell the head Elf to let us in.  The Elf cheerfully obliged. We skipped on in. I didn’t know that there were at least 6 lines that covertly took you to see several different Santa’s.  What an operation they have going on there. Jonah and JD loved it!  They were both so shy, so dang cute.
Zippi and Jill

That Sunday was our ‘Light’s of DNA’ art gallery showing with Zippi’s art class. The JJB logo was inspired by DNA, I Love NY logo and children’s construction toys. Inspired by JJB’s logo, I thought it would be cool to do a childrens gallery show, where the art took it’s inspiration from biology.  In the process I hoped to bring awareness to the children’s parents. When Jonah was dx’d I had know idea that this world of rare diseases existed.  7,000 of them with only 400 treatments!  With 50% of them affecting children; a third of those kids don’t live past the age of five. Digging deeper I wanted to open childrens eyes to the fact that some kids are born differently.  To know fault of their own, these children have birth defects or genetic causes that lead them to look different and act differently.  I admit my goals are a bit selfish.  I couldn’t stand the thought of children making fun of Jonah for his quirky behaviors and slow learning abilities.

The show was outstanding, I wish we had press there. The kids embraced the program and relished in the attention they got at the art show.  During class they talked to each other about how it felt to be different. They learned about biology and rare diseases. It was delightful to meet them and talk to them. I bought several pieces as presents for our scientists. They totally dug that.


I heard about Zippi’s art class through a friend who also mentioned that Zippi was an incredible person.  I met with Zippi and told her about Jonah, JJB and my idea.  Her eyes welled up with tears.  She smiled and said she was in.  Zippi is just one of those people that you want to be around.  Her energy is soothing, she’s insightful and compassionate. She could have been a therapist. When you meet somebody new that can put themselves in your shoes, you want to keep them around.  I don’t have a lot of free time to hang out with my friends. Just running into these people at the grocery store or on the way to school gives me strength. I see you, I know you’re here to help; in my head I thank you everyday.

I’m very much encouraged for the New Year. I spent Thanksgiving in Geneva where I met with our International families. I went for a scientific conference, but mostly I went for my MPS families. We stayed up until 3:00am talking, so much to relay to them, It was not enough time!
Left to Right. Jill-NYC, Samia-Paris, Megan -Australia, Raquel -Portugal, Arleta -Poland, Jenny -Mexico.

The New Year begins and we have our marching orders.  We have got to raise the funds for our toxicology work.  Once that’s done we can head off to clinical trial.  I’m tired of hiding behind the fact that we have to test our gene therapy on animals.  There I said it! For those that would like to remain in denial, don’t read on.  We have done all the testing in mice. We’re ready to produce our vector in a larger batch so that we can test in sheep, we have to scale up and see how far we can deliver the vector in the brains of animals that are comparable to humans. We’re not doing dogs or monkeys, if that makes you feel better. It does for me. It’s between sheep or pigs.  This takes a lot of money.  The facilities that make the vectors don’t come cheap.  The containers and production rooms have got to be impeccably managed.  Temperature control, contamination procedures and production logistics. There aren’t a lot of facilities around that are equipped to do this work either.  Then we have to buy the animals and maintain them somewhere. Surgery, dissection and more research. Manpower. You can do the math. Ask yourself, how much is your child worth?  Now think about all the other children living the same fate as Jonah and times that by all the children that have yet to be born. These childrens lives are priceless, don’t you think? 

Our Crowdrise Holiday drive comes to an end in the next 24 hours!  Between our Crowdrise  donations and offline donations we have raised…. drum roll please!  $45,000.00.  Our goal is $50,000!  We have 24 hours to make our goal!  To top it off we have a sponsor that has challenged us to make our $50,000 goal; he will donate another $5,000!  That’s $55,000!  Enough to pay the years salary of one scientist! 

Please push push push our Crowdrise campaign during these final hours.  Contest ends on the 7th of January at 2:00pm ET.
https://www.crowdrise.com/ouryear

THANK YOU!!!!!
Jill