When 2019 rolled around there was something about it that felt as though it was going to be a year of positive changes.
With all the latest research that has come to light with Saul Wilson Syndrome, I feel as though the time is now. The time is now for me to write and publish that book, that I always dreamed about writing. The time is now to share my story even more, the story that I kept hidden for years.
I started this blog 7 years ago because I knew that I needed my story heard. I knew that one day people would find my blog and be able to read about the life of someone that is diagnosed with the same dwarfism that their child has.
I wanted my blog to be the inspiration to people to let them know there was hope out there and that someone had the courage to be open about their life so that doctors could learn from it and help them.
It is a new year, and yes I believe this is a time for new beginnings and there have been new chapters added to my book…so yes the time is now and I can’t wait to see what life has in store for me!
Barcroft TV did a short documentary on my life and what it has been like trying to find answers. Please check out the article and video:
I am so honored to share my story with the world. Please feel free to share the story on social media as my goal is to reach as large of an audience as I can in hopes to find more cases.
Right now there are only 14 cases known world wide and I am hoping by sharing my story people might see it and say “I think this is what I have”. I want them to know they are not alone!
I didn’t meet someone with my dwarfism until I was in my early twenties. I know what its like to spend years wondering why no one else out there had what I had or doctors couldn’t give me answers. My goal is that no other person has to feel that way.
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.