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Monday, October 3, 2011

Change of Routine for Jonah & me.

This is Kiesha (in red) with family at her "make a wish" Kiesha got to meet her hero Jackie Chan. Kiesha passed away last Thursday. She was 15.

I remember the day her mom called me like it was yesterday..... Kiesha had two rare disease's her secondary disease is called D2-HGA. Even less is known about this disease- then Sanfilippo. Her body can't get rid of an acid, it builds up then comes out in the bodily fluids. D2-HGA is easier to diagnose then Sanfilippo based on the childs unusual urine. Kiesha's Mom is a nurse, she never believed that D2-HGA was what was killing her daughter. She pressed for more testing. The testing came back with MPSIIIC (just a few months after Jonah's DX.) JJB's website had been up for just a few weeks, when Kiesha's family found us. Before even calling me, Kiesha's mom saw the information about doctor Maria Escolar, she immediately called Maria and set up an appointment. A few days later Kiesha's Mom got a call from her best friend telling her to: "Turn on Good Morning America, Jonah and his mom are on T.V."

That's when I got a call. It was the second call I had received from a Mom who found us through press. Coincidentally both families had ties to Oregon, Kiesha's parents met in Corvallis. You should all know Aimee by now, her parents found my Mom through an article in the Oregon Statesmen Journal. Kiesha made it to NC to see doctor Escolar and was able to participate in our retrospective study. Her parents wanted to do what they could for Jonah. We're forever in their debt.

In Kiesha's eulogy her mom described her as the only person that could tickle herself-just try that. Her last words were to her father she said: "I'm brave."
There isn't going to be a public funeral and her parents asked instead of cards and flowers to make a donation in honor of Kiesha to Jonah's Just Begun.

I know I owe everyone an update and Ive been trying to gather my thoughts for the past few weeks. We've been very busy and Kiesha's death has thrown me for another loop. September was an intense month and I have this feeling that it's only just begun. In Kiesha's honor I'm going to suck it up and be brave. So here goes.

Jonah started school last week. It was a short week, he missed Monday due to a fever on Sunday night. Thursday and Friday were off in observance of the Jewish Holiday. Tuesday drop off was hard, he didn't want me to leave. He didn't quite get what was going on. When I picked him up his eyes were burning from crying on and off all day long. Tuesday's drop off was epic. He screamed bloody murder. I made a break for the door as his teacher tried to hold him back, Jonah broke free and scrambled after me. He tripped and fell, the TA shut the door behind me. I was heart broken. I came 30 min early for pick up and waited. When they opened the doors, Jonah was all smiles and happily showed me the stamp on his hand as if nothing had ever happened. Today he knew what was happening and whimpered all the way to school. At drop off he begrudgingly held the hand of one of the TA's and cried helplessly as he was lead to the classroom.

In the effort to save time and not bore everyone I'm going to summarize September.

- Two large and generous donations from JJB supporters were made last month. Along with several wonderful donations from Jeremy's coworkers. Combined, JJB raised close to $40,000.... In one month, we raised almost half the amount that we raised in our first year of operation. I'm thinking that's a good sign for the year to come!

-The company Lysogene started their clinical trial for type A's gene therapy.

-JJB has made our first payment for a gene therapy for type C. On March 1st, we will need to have $109,000 ready for our second payment. (As if I needed another reason to not sleep at night)

-JJB was featured in an article Endeavours, the University of North Carolina put's out a quarterly magazine. The article gave a good synopsis of the road ahead. Personally, it was hard to see it in black and white. I have been so focused on building our patient population and funding the science, that I put the next step on the back burner. That next step is harassing the FDA like a rabid pit bull in heat. Once we have an efficacy tested- viable treatment ready for clinical trial... we have to get the FDA to recognize the "risk vs. benefit" for ultra rare FATAL childhood diseases. (A whole other topic and one to be aware of come election time....)

-We attended JLK's 2nd annual "Strike for a Cure" fundraiser in MA on the 25th. It was great to see the Burke girls, Ben, Jessie and Lilly. Jonah's grandparent's made the trip and were thrilled to hang with Jonah.

-Jeremy started his new job on "A Gifted Man." His hours still suck but the show is really great. It had me sobbing in a good way last Friday.

-JJB will be attending a meeting in Canada with our esteemed research Alexey in a few weeks. :)

-JJB confirmed attendance to a patient population meeting at an MPS conference held in Switzerland this December.

-We're also going to attended a conference in NYC hosted by s."Faster Cure's." Which I hope will help me with my personal mission of getting through to the FDA.

-JJB is actively looking for a venue for our 1st annual walk-a-than fundraiser in NYC. Meanwhile we're pondering venues for next years wine tasting event.

- With the upcoming Holidays, brace yourself for a ton of spam and junkmail from JJB! Be a friend.... embrace, forward and support our cause.

-On our next blog we will (fingers crossed) unveil JJB's mobile site. Thanks to our friend Eric Buck! Get ready and set your smart phone up with the ability to scan QR codes. Hint download i-nigma now!

-Alexey found a new biomarker in our mouse model (Juniper). He asked to compare his findings to Jonah's blood. With the help of our genetic counselor Erin, whom also contributed blood as the control! We fedexed bllod to Alexey's lab. The results will take a few months to confirm.

-Jonah and I were "show and tell" guests at Dr. Banikazemi's lecture on Lysosomal disease's at Columbia-Presbyterian. It was a lecture to be remembered!

Need to go get Jonah from school now. I hope he's all smiles. I missed him. This is going to be a big change of routine for both of us.