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Wednesday, November 21, 2012

My Heroes





Ryan Dant
Abbey Meyers
My Heroes

Last week I went to the Rare Voice Award Gala in DC. I was honored to be nominated for the ‘Abbey’ award, for my work in championing the ULTRA/TREAT acts.  The Abbey award was a beautiful marble statue of a Mother protecting and standing up for her child. Inspired after Abbey Myers a mother of a son with Turrets Syndrome.  Abbey was the inspiration for the Orphan Drug Act, her story is quite amazing if not serendipitous.  I encourage you to read the history of the Orphan Drug Act.http://archive.eurordis.org/article.php3?id_article=1751 

After helping to establish the act she went on to found NORD, the National Organization of Rare Diseases.  Abbey spoke at the award ceremony, once again I was moved and inspired by what the power of one Mom can do.  I had the pleasure of meeting Abbey later, this women is a force to be reckoned with, lets just say I would NOT get in her way.

I didn’t win the award and yes it stand’s true it was an honor to have been nominated. I was so proud to be standing with the group of incredible parent advocates and I’m thrilled that my associate, friend and fellow Sanfilippo dad  Roy Zeighami won for his role in driving the ULTRA/TREAT acts.

The event for me was priceless, It was a lovely intimate gala.  Relaxed and small enough to finally get the chance to meet some of my idols face to face.  Ryan Dant.  I tear up just thinking about this young man.  The Dant family embarked on their crusade to save their son Ryan in 1994, Ryan was diagnosed with MPS I at the age of 3, the average life span for MPS I is 10.  Ryan is now in his early 20’s attending college and living a normal happy life.  I crashed his table after having a few glasses to many of wine, I gushed. The poor kid is probably still reeling from the crazy mom, blubbering over him. 

It was so beautiful to sit next to him and talk to him.  Ryan is handsome, charming, bright and happy.  He looks a lot like Jonah but with dark hair and eyes. The MPS features, make our kids look a lot a like. The likeness to Jonah just added to my emotions. Ryan is the first kid to survive MPS I, I told Ryan that I wanted Jonah to grow up to be just like him.  Ryan has no idea how much I cherish him, he gives me immense hope. 

I asked Ryan if he knew how special he was and if his friends new?  He said:  “no, I just want to live a normal life, there are just a few people that I have shared my story with.” 

I pictured Jonah someday saying the same thing.
Here is an expert from an article about the Kakkis and Dant success story. 
http://www.pomona.edu/news/2011/02/09-magazine-hero.aspx

AS KAKKIS WAS STRUGGLING with drug development on a tight budget, a family in Carrollton, Texas, was facing tragedy. Ryan Dant was an energetic three-year-old when his mother, Jeanne Dant, took him to the doctor for a checkup. The pediatrician noticed Ryan’s head and liver were unusually large. “He had this disease no one had ever heard of, called MPS,” his father, Mark Dant, remembers.
There was no treatment. Severe MPS I kills children before the age of 10; people with milder forms may survive to young adulthood. By first grade, Ryan suffered overpowering headaches and nausea. His liver and spleen swelled to twice their normal sizes. His fingers curled up as the GAG stiffened his joints. He stopped talking about what car he would drive, or anything else related to his future, because he knew he wouldn’t have one.


As in many families faced with rare diseases, it fell to the Dants to seek their own cure. In 1992, they started the Ryan Foundation for MPS Children, eventually raising thousands of dollars through bake sales and golf tournaments. But they weren’t sure what to do with the money.


Emil Kakkis is to the Dant family as Alexey Pshezhetsky is to my family.
I also got to finally have some face time with another Hero father John Crowley, the Crowley family have two children with Pompee disease, another one of the lysosomal storage diseases. After driving a treatment for Pompee this dad went on to form Amiccus a biotech that focus’s on chaperone therapies.  A chaperone has been one of the treatment options that Alexey has been perusing for us. I told John about this and he promised to reach out to Alexey and share his expertise.  Alexey was happy to hear about the connection, wanting to speak with Amicus for some time.  John reached out to Alexey yesterday, it’s always nice to know the CEO.  Check out the movie Extrardinary Measures, based on the true story of the Crowley family.

Speaking of Alexey, I may have not won the Abbey, but Alexey did win the award he was nominated for, The Champion of Genetics award for 2013! 

The nominees must meet this criteria: For the purposes of this call for nominations, translational research is defined as a way of thinking about and conducting research that moves basic research more efficiently into medical practice, with meaningful health outcomes. It is about harnessing the knowledge from basic science to produce new options for the prevention or treatment of disease, be that through drugs, diagnostics, or devices.

Alexey received the award based on his work in rare genetic diseases affecting children, including MPSIIIC.  I’m sure Alexey will be winning a lot more awards for his work.

Have a wonderful Thanksgiving!

Monday, November 5, 2012

The Hurricane VS Halloween.

We had so much fun at our Halloween events.  We celebrated party #1, the eve of Hurricane Sandy, despite or inspite of the pending Hurricane we packed the house at the Ceol bar .  Our friend Channon planned the whole party and our friend Loretta, proprietor of the Ceol Bar and Pub, donated her dining area at Ceol for our use. 

There were several awesome kids vendors that came out.  Joanna of Cheeky Monkey Party, came with her bag of goods- tons of kids party games and crafts.  Jonah had a blast playing with the home made robots from the Brooklyn Robot Foundry, this place is so cool.  They make robots out of repurposed motors, batteries and recycled materials.  They came with a big table and a bunch of little robots, Jonah was memorized.  Our favorite kids musician Pete from the Hootenanny Art House came out and brought down the house.  We had bobbing for apples and face painting.  On the way out the parents told me it was the best Halloween party that they had ever been to!  One family said to me we had so much fun, we owe you more money, can I make a larger donation??


It felt good to do something domestic and celebrate a holiday.  I baked, made goody bags and planned costumes.  I haven’t done anything like that since diagnosis.  I’m very much indebted to our community for initiating benefits for JJB.  Thank you Channon & Loretta from Ceol,  Jane and Kenzie from Work Space, for party #2!

On Halloween we had a benefit at Work Space, Jonah’s Physical and speech therapy studio.  Jane and Kenzie our therapists, set up a Spooky Maze, an obstacle course for the kids.  I was very touched to see our friends come out to support JJB.  It was really cute to see Jonah come up with his sitter all dressed up and ready to go Trick or Treating for the first time.  He loved the maze, crawling through tunnels balancing as he walked over a ‘rickety bridge’ over the mote and seeing old friends.

The events leading up to the Work Space event did not go as planned.  I had left a lot of loose ends to tie up on Wednesday, thinking Jonah would be back to school, by then.  Which he wasn’t, trying to pull everything together, was difficult with Jonah wanting to ‘help’.  Then I couldn’t get a ride to Work Space, all the car services were tied up because of Sandy.  I was stressed and late to our own benefit.   Jonah’s sitter Gabby, ran outside for me to try and hail a cab, while I called every car service in town.  Gabby actually caught one for me.


My volunteers couldn’t make it, no transit. Again Jonah’s sitter Gabby came through for us. Gabby had a house guest Rebecca, staying with her.  Rebecca was touched by our story and wanted to come help, she hopped on her bike and sped over. She helped set up, passed out goody bags and helped the kids through the maze.  On the way out I realized I had for gotten my coat, it was freezing out, no way to get a ride home.  Randomly enough Rebecca had two coats on her.  Here’s this stranger I had never met, coming to our rescue spending 3 hours helping and then she literally gives me the coat off her back. To top it off I get home and Gabby refuses to take payment for the evening, her way of donating to JJB.  It’s people like Gabby and Rebecca, that make the World a better place.  You know I know what it’s like to benefit over and over from the kindness of strangers. I hope that I can pay it forward for someone else in need.  Hence my next story.

I’m ashamed to admit that I was completely clueless of the destruction that the hurricane had caused and the ramifications that we’d feel for a long time to come.
We don’t have a T.V., when Jeremy told me the storm was coming, I didn’t take it seriously.  To many other things on my mind, I live in a Sanfilippo fog.  After the storm Jonah was out of school all week. I didn’t get a chance to check out the news reports online until the weekend.  I was horrified to see what had happened to Staten Island, Long Island, NJ, Red-hook...  Mass destruction and loss of life.  It’s such a shock.

Imagine closing on your first home, moving in and decorating the nursery for the baby your expecting in a few weeks.  A new home with a yard for your eldest to play, while she waits for her baby sister to join her.  The American dream, then a hurricane comes along and completely destroys your home. This is what has happened to friends of ours.   Their plight has forced me out of my Sanfilippo fog and reminded me that unfathomable tragedy comes in many forms. I feel guilty for shrugging off the storm, we could have purchased a home in any one of the areas that got hit.  Instead we landed on a hill, far enough away from the water, to have sustained any serious damage.

For those that have wanted to help and just don’t know where to give, here is a wonderful family that needs our help.  A family that has been very supportive of JJB.  To help, click here.

Election day is tomorrow! Much of what JJB and our rare disease community have been working so hard for, has a lot riding on this election.  My mind would be at ease to know that people like Jonah who are dependent on expensive and life long treatments will be protected.  Knowing that we have a president that believes in and understands the value of science would be a huge stress relief.  Our rare disease community works extremely hard at improving public policy in regards to rare disease legislation.  It would be nice if we had a government that appreciated the work that we’re doing.  With all do respect, on Thursday I’d love to go back to my Sanfilippo fog for another four years, with a peace of mind that we have a president that has our back.

Hope for the best prepare for the worse.  My new motto.
Cheers, Jill