Phoenix Parents: Devoted parent of a terminally ill child, relentless in the search for a cure.

Last month I asked our readers for ideas for a new name to call parents of terminally ill children that are devoted to finding a treatment for them.

I came up with the idea after reading the blog my friend wrote for Parenting. com and a recent article in the NY Times titled “Dragon Mom”. The article is about a Mom who’s child has Tay-Sach’s an awful disease much like Sanfilippo. Tay-Sachs is passed to children in the same way as Sanfilippo i.e. it’s an autosomal recessive genetic disorder. Meaning each parent has to be a carrier for a mutated gene and each give a copy of the gene to their child. Like Sanfilippo there is no cure and it’s fatal. Even more horrific, Tay-Sachs children usually die by the age of 4.

My trip to Geneva for the Swiss Sanfilippo Foundations MPS/Sanfilippo conference was a great success.

The most rest I get is on a 7 hour flight. I read, take notes, watch movies and relax. Maybe I should travel more, but I always get so home sick. The second I land in a different country I can’t wait to get home and see Jonah. Just a few days away feels like a month.

The amount of studying, listening and asking questions. Conversation, translating, networking, meeting new people, putting faces with names and science. Heavy emotions and major decision making. It is exhausting and even though “we” i.e. my parents and scientists accomplish so much in just a few days of face time. I still never feel that sense of accomplishment. These trips always open up more doors that lead to more and more work to do.

We Won $25,000 dollars, thanks to all of you!

The online voting contest with Chase Community Giving was a real nail biter. JLK started out strong then we steadily dropped, held and then dived during the last hour of voting. I was frantically emailing, texting, instant messaging, and blogging. We ended up at #81 out of 100. The last 30 or so foundations were neck and neck. Our sister foundation Team Sanfilippo won $25,000 as well. Unfortunatley Ben's Dream and Will Luthcke SF foundations didn't make the top 100. My good friends Hannah's Hope won $25,000, but friends with the ISMRD foundation fell out of the top 100 at the last minute too.

We Need votes now

Last rally for votes we need help from the west coast! Vote and share with friends. http://bit.ly/meEBoV

We're on the cusp of loosing a 25,000 grant please vote now!!!!! Forward to everyone. Don't wait you have 20 min, to help us win 25k. thanks! Jill

Confusion and Delay

For everyone that is confused....I'm going to try and attempt to explain the Chase Community Giving program.

My sister organization(s) are in the running for a $250,000 grant. The top 100 charities with the most votes will share 3million. 1st place is $250,000 2,3,4 and 5th places win $100,000. 6th-100 get $25,000 each.

Here we go again!

Did everyone read Patty's blog? Click the bold part if you didn't. If only I could have Patty's ability in writing! Patty is my neighbor (we live in Brooklyn, we have lots of neighbors!) However Patty is an exceptional Mom and neighbor, her sons attend Jonah's school. Patty also just so happens to write for Parenting magazine. Again I live in Brooklyn, we have lots of journalists/writers here (lucky for JJB!)

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."

I can see clearly now the rain has gone
I can see all obstacles in my way
Gone are the dark clouds that had me blind
It's going to be a bright, bright sunshiny day

I think I can make it now the pain has gone
And all of the bad feelings have disappeared
Here is the rainbow I've been praying for
It's gonna be a bright, bright sunshiny day

Look all around there's nothing but blue skies
Look straight ahead nothing but blue skies

I think I can make it now the pain has gone
And all of the bad feelings have disappeared
I can see clearly now the rain has gone
It's gonna be a bright, bright
Sunshiny day
-Johnny Nash

Happy Birthday Jonah!

Hi All,
Saturday is Jonah’s 3rd Birthday! Last weekend we kicked off Jonah’s Birthday week at Grandma and Grandpas. Jonah talks about his cousins Faith and Jacob all the time, he loves them so much. It’s fun to watch them play, they get along so well. We invited another Sanfilippo family to have cake with us. The Vanderpools have two boys Jason 20 and Jon 24 with type B. This was the first time we got to meet the family in person. We have been FB friends for sometime now, they live very close to Jeremy’s parents. It’s awkward to admit that your thankful to have another Sanfilipo family close by. You don’t want anyone else to have to suffer through this this disease. Yet, I’m glad to have such an amazing family near. The boys are in really good health too, which is always wonderful to see.

Sanfilippo Workshop 2011, UK

Blog time! I figure almost half of Jonah’s supporters don’t know what a blog is. The name comes from the words web & log. To follow JJB’s blog and be notified by email as to new postings, add your email in the top bar and press submit.

On the road again... next stop Northampton

My first blog....On the road again.

Jeremy and I are heading to a "Sanfilippo Workshop" in Northampton. The workshop is being hosted by the UK MPS society, it's goal is to help bridge the gap between: pharma, research and Sanfilippo advocate groups. We're very excited to be a part of this meeting for several reasons. They are as follows:

Our researchers Bigger and Pshezhetsky will be in attendance. Pshezhetsky is working on a mutation specific therapy for Jonah and friends. JJB hopes to fund Bigger on a viral vector ASAP. (I just can't get enough of our researchers. I wish I could sit in their office's and work, so I could watch the lab techs work on a cure for our kids.)

Brett Crawford from Zacharon will be attending. The Sanfilippo community is very anxious to learn more about the potential trial that Zacharon is working on in partnership with Pfizer. Pfizer just gave Zacharon a $210 million dollar contract to help take their "small molecule" to clinical trial. At this point this potential treatment is Jonah's closest hope.