Today I am finally able to announce my big news. Doctors have found the gene that causes Saul Wilson Syndrome!
On August 11, 2017 doctors from Delaware called me to tell me that there had been a break through for Saul Wilson Syndrome and they believed they had found the gene that causes the syndrome.
As I sat in the kitchen with my mom and my friend we had the phone on speaker to listen to this latest news. They asked me if I would be willing to talk with one of the other doctors on the study and if I would be willing to travel to the National Institute of Health (NIH) where they would do tests to learn more about the syndrome. I told the doctors that I was willing to do whatever was needed to help.
A few days later the other doctor called me and we talked about the tests they wanted to run and he once again asked if I was willing to participate in the study. I explained “I’ve been waiting my whole life for this phone call and I will do anything you all need me to do to help.”
I have spent my whole life advocating for answers and today we took a big step towards that goal. There have been 14 cases identified so far and doctors hope with this new study being published that they can diagnose more cases and find more answers.
I have always known my life goal was to educate others and advocate for my dwarfism. I truly believe that I am the voice for Saul Wilson Syndrome.
In 2012 I was attending a meeting at the LPA convention. I walked into a room and the doctor at this meeting saw me and said “You have Saul Wilson Syndrome”. I stood there with my mom and and my aunt and was shocked that he even know what Saul Wilson Syndrome was. He explained to me that he in fact had only read about it in studies and had never met anyone with it and with that the process started.
While at that convention I offered up a blood sample and that was the first step towards where we are today. I was the first person with Saul Wilson to offer my DNA and now here we are 6 years later and we know of the gene to cause Saul Wilson.
So I am happy to announce to the world using my blog, the study that has now been published. Below is the link.