When I started writing this blog I wrote my story, because there was nothing else out there but I had hoped one day it would become the outlet that shared not only my story but anyone else’s stories out there that also had Saul Wilson Syndrome.
So today I am pleased to add to this blog for the first time ever, stories about 3 other boys who have been diagnosed with Saul Wilson Syndrome:
In this first article, meet Jaxon and Cooper who brothers and they both have Saul Wilson Syndrome: https://lancasteronline.com/opinion/editorials/a-special-team-and-a-special-boy-editorial/article_aa5ce360-b82b-11e8-b15d-6bd3d1015454.html
In this second article meet Piet: https://www.seoghoer.dk/nyheder/saa-sjaelden-er-hans-sygdom.
At the beginning of last year I only knew of one other person with Saul Wilson Syndrome, now there are 14 cases!
Hello Everyone, below are the medical articles that the doctors wrote about Saul Wilson Syndrome and finding the gene.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation: https://www.ncbi.nlm.nih.gov/pubmed/30290151
Zebrafish from UO helped find cause of Saul Wilson Syndrome: https://around.uoregon.edu/content/zebrafish-uo-helped-find-cause-saul-wilson-syndrome
On August 9, 2017 my mom came to me with a message that was left on our phone. She told me she believed it was a doctors office that had called and she took down the number for me to call them back. Two days later I was able to return the phone call and on the other end was the doctor and his assistant telling me the news about finding the gene.
As the doctors explained to me how everything had come about with the finding, I stood there and was just shocked that this was happening. While I dreamed it would happen, I didn’t believe I’d see this discovery in my lifetime.
The doctors explained to me that there was another doctor that they were in contact with and I agreed that they could share my information with that doctor as well. I then got an email asking me to call the doctor on his cell phone (and when I read that I was allowed to call him on his cell phone, I thought “wow this really is a big deal”).
I was then invited to go to the National Institute of Health for a week where they planned to do studies and tests and learn more. When I got the invitation to go there I called up my aunt and told her “the doctors want me to go to a place called the National Institute of Health”. She was beyond excited and then explained to me exactly what the National Institute of Health was, since I had not heard of it.
For the next few weeks I was emailing back and forth with the doctors and making plans to go to the NIH. In that moment in time I knew my life would be forever changed and I would do whatever was needed to help. This is my purpose.
I remember in one phone call that we had, the doctors were telling me about certain health issues that they saw occurring in other cases, and as they were listing them I was responding “yes I’ve had that” or “yes I have that”. I remember thinking how amazing it was that I was able to confirm things doctors were thinking.
While I grew up wondering if the things I went through was just something I dealt with or was it part of my dwarfism, now I knew it was in fact part of my dwarfism.
Growing up with a rare type of dwarfism there were no answers and I learned at a young age that I may never get answers and I learned to be “ok” with that.
I faced a lot of tough challenges from early on. There were doctor visits and surgeries but after so many that became “normal”. Some may wonder how such a thing could be normal to a child but when I was younger I didn’t think much about it. For me it was my way of living.
How do I begin to explain just how much this new research means to me? I could say I’m excited or overjoyed and yes that is true. But it is so much more than that. This has been my life, this has been what I’ve been waiting for.
When most people think about what they want out of life they start to think about a degree, a career, a nice house, a family. But I grew up in the medical world. I grew up in hospitals and doctors waiting rooms and conferences hoping a doctor would be willing to help me. I grew up listening to the stories of my childhood that I didn’t quit remember but wanted to know about because I knew one day I would need to share those with the world.
So when I got that call from the doctors asking if I would participate in the study, there was no “thinking” about it. Before they even finished telling me about it I said I was 100% on board. The doctors explained to me that they wanted me to take time to carefully think of it and my response was “I’ve been thinking about this my entire life”.
In that moment in time as I stood there listening to what they had to say, in my mind I knew I would put my put my life on hold to do this and with that the journey began.
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.
I say I’ve always been a dreamer because I dream about a life that could be. When I think about the life that I want or wish I could have, writing always comes to mind. I’ve always wanted to write my story and share it with the world. I’ve always wanted to write a book and I have started to write one. I also wanted to be a motivational speaker. I always dreamed about going around to different venues- whether it be schools, lecture halls or even in the medical field- travel around and talk to them about my story and help them gain an understanding.
That was the dream I always had.
But reality hasn’t gotten me to that dream yet and I don’t know if it ever will. I hope one day I can say I made that happen, but who knows. Right now reality is I graduated college and settled into the life I live now.
I often think about if I’m happy with where things are- and the truth is, it’s not that I’m not happy its just that I feel as though I settled. I didn’t take a risk and go after the dream of writing my book and becoming a motivational speaker. I guess I’ve settled for becoming a blogger and sharing my story this way.
I don’t know where life will lead me next- but I think I might just take a risk and see what happens.
Hello everyone and thank you for all the comments in regards to the new documentary out of Denmark on Piet.
This last year has been an interesting one when it comes to the latest news on Saul Wilson Syndrome. Last August I received a phone call from doctors that I had been waiting my whole life to get. The doctors had new discoveries in regards to Saul Wilson and they were excited to share what they have learned and even invited me to the National Institute of Health to do tests and scans to learn more.
This chapter in my life with these new discoveries is what I have spent my life working towards. I always knew my mission in life was to teach others and to learn more about my syndrome.
I am the leading person in this fight to learn answers and I feel as though I always have been. For me answers is everything and I’m not even trying to really find answers for me any more, now its about finding answers for the others (there are now 13 known cases in the world- last year there was only 2!)
Grant it I do hope that doctors can learn more and help me in my quest to find the answers in which I have always had. But I have had 30 years to accept the fact that I didn’t have answers, so I have come to terms with that in a sense.
I hope these next few years we as a group grow even stronger and learn even more…I know this is only the beginning and I can’t wait to see what comes next!!