Saturday, January 23, 2016

December, 2015

Below is an update that I wrote some time ago and only now finished.  Thank you for your continued love and support.

December, 2015 

I'm sitting here by the pool at a hotel in Dana Point, watching the sunset, and trying to think of some profound words to describe our year.  Anyone who knows me, knows that I hate to write. They know that it takes weeks (in this case months) of suffering to find words to describe the indescribable.

I don't think that I will reflect on the year.  Previous posts capture so much of what we accomplished during the year.

Right now, I want to focus on the year to come.

What happened to that Fundraiser for Maya?

As November rolled into December, Suzette and I were focused on raising money to fund a post-doc research associate at Rush University and a paper about people with Maya's disorder.  We had started detailed plans for the fundraiser and were working towards forming a 501(3)c.

Early one morning in November, I received an email from one of Maya's neurologists asking if I had heard that Maya's article was published in the journal Neurology.  I hadn't heard the news, but I had a copy of the article by the time I arrived at work (thank you, to our favorite librarian, Amy Besnoy).

It is hard to explain why an article about our rare disorder is important, but the article has served as something of a calling card. The article explains in terms that researchers and doctors understand the known science behind Maya's disorder.   

In our case, I sent links of the article to every researcher and medical professional who has helped us over the last couple of years.  It was a wide net, but I had to try.
Guess what, of the many responses and words of continued support, one specific person wrote back and said "Come visit us in Houston. We would like to discuss our research with you and your family."

That person was Dr. Huda Zoghbi.  Director of the Jan and Dan Duncan Neurological Institute at Texas Children's Hospital.  She is one of those living legends in the rare disease community, not just because of her many accomplishments, but because she is one of the most compassionate people that you will ever meet.

We spent an unbelievable amount of time with Dr. Zoghbi and her colleagues learning about the lysosome and the "master switch" which plays such an important role in its function.  It was essentially a Phd level education in biology.  

Did they hand us a magic white pill.... no.  What they did hand us was renewed hope and another path to a possible long term treatment for Maya and people like her.  Perhaps most profound was that they wanted us to know that they cared about the challenges we face and they are doing everything possible to help.

Right now, Suzette and I are weighing how best to help support the various researchers who are on the path to finding a viable long term treatment. This is our primary goal for 2016.  Of course, we continue to search for others and to educate others about Maya's disorder.

Maya, well she is Maya. A beautiful young lady who is doing her best to live with this crazy disorder.

Thank you for your continued love and support.

No comments:

Post a Comment