Invitation to the National Institute of Health

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.

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The Best News of My Life

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.

 

 

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A Big Day For Saul Wilson Syndrome!

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.

A-Recurrent-De-Novo-Heterozygous-COG4-Substitution-Leads-to-Saul-Wilson-Syndrome-Disrupted-Vesicular-Trafficking-and-Altered-Proteoglycan-Glycosylation.pdf

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I’ve always been a dreamer

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.

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Update on Saul Wilson Syndrome

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!!

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Life Goals

So most people at a certain age set out to achieve life goals.

Some people want to focus on their career.  Some want to get married and have a family.  Some want to explore the world.  There are so many options when it comes to life goals that can be set.

The only life goal I’ve ever had was to learn more about my dwarfism and teach others about my life and help them with any questions they may have.  My life goal was to educate and make sure that future people with my dwarfism had answers that I never had.

I never thought I’d be able to achieve that goal, but over the last few months I’ve been able to work with doctors and try and gain a better understanding of Saul Wilson Syndrome.  I want nothing more than for future Saul Wilson Syndrome cases to have the answers that I never had.  I don’t want anyone else to grow up with the unknown that I’ve faced my entire life.

So with that life goal in progress, I have to consider what next life goals I should strive for?

I mean the last 30 years worth of my life was to help me achieve that goal.  But what other goals should I go after?  What do I want to do now in life?  I have absolutely no idea!

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Turning 30 and What It Means To Me

On May 28th 2018, I turned 30 years old.  For a lot of people turning 30 is a big deal.  But for me it was an even bigger deal.

Turning 30 meant that I lived 25 more years longer than some doctors gave me.  It was 18 surgeries later.  It was a high school diploma and college degree that some doctors said I wouldn’t obtain.  It was me learning to drive a car.  It was me going after my career.  It was me fighting through everything I’ve been through to become the person I am today!

These last 30 years have not been easy.  I’ve struggled through but wouldn’t let it show most of the time.  I have always had the support of my family and friends, but sometimes it was a struggle that I had to fight alone.

A lot of people don’t understand when I tell them that my life has been “medical”.  When I look back on these last 30 years the main thing I remember is the fight.  The fight through each surgery that I had.  The fight through all the doctors appointments.  The fight through going to doctors, hoping for answers only to be told they didn’t have any.

It is so hard to explain to someone who has never gone through that kind of thing what that is like.

It is because I lived my life in the medical world that I have gained a true understanding of what all I’ve gone through and what it means when you finally have the opportunity to get answers and teach others.

Growing up I always wished I could meet someone with my dwarfism who had answers.  Little did I know that I was I was that person.  I wasn’t meant to meet someone who could give me answers, but to be the person who would give others answers.

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Dreaming About My Life

I never grew up dreaming of what my life would be like as an adult.  To be honest most of the time I wondered if I’d make it to adulthood.

When you grow up facing medical challenges one after the other you don’t tend to think about what the future holds because in medical world it could be something completely different than what you imagine in real world.

When I was a child I was in and out of hospitals and doctors appointments so much, in my mind that was completely normal.  I never really thought about the fact that other kids my age weren’t living that same kind of life.

My parents did an amazing job of trying to make the best out of it.  When I was in the hospitals my dad would always go out and get us good food or a milkshake.  When I would go with my mom and aunt to different conventions and talk to doctors, trying to find out answers to the many questions we had, they would always make sure we did fun stuff to- like go to museums and go out on the towns and sight see.

Now that I’m an adult and think back to my childhood, what I do remember of it is that sort of things.  Basically taking on each and every challenge the best we could.

Back then I couldn’t visualize “my future” mainly because it was about living in the now and enjoying every moment.

But one thing I did realize at a young age was the type of person I would be if I made it that far into the future.  While I sometimes let my mind dream about having the “perfect” life of marrying and having kids and having a house of my own.  I kind of always knew that probably wouldn’t be the road I chose.

So that leads us to life now…I have no idea where my life is headed and I know most people feel the same way.  So far its lead me to graduating college and getting a great job that I work hard at.  Some say my work is my life and I can agree with that.  But lately I’ve had that thought of “maybe there’s more to my story”.

Lately I can’t help but think, that there’s more that needs to be written- so that’s what I’m trying to focus on now.  Where do I see my life headed these next few years?

A few months ago life gave me a gift that I never thought I’d have…I was given the chance to learn more about my dwarfism and I was given the chance to teach more about my dwarfism.  With this newest adventure it is only the beginning and it is exciting to see where it might lead, after all I’ve always known my life’s mission was to be the voice for my dwarfism.

 

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American Medical Association Podcast

I had the honor of participating in a podcast for the American Medical Association Podcast, talking about treating the unknown.  Follow the link if you’d like to listen, its about a 25 minute talk.

https://www.ama-assn.org/ama-doc-talk-podcast-series

Select “Treating the Unknown”

 

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So Much Has Happened

The last few years a lot has happened, most of it all happened all at once and it has been hard for me to accept all that has taken place and find peace with everything.

I am hoping this is the start of me moving forward.  Maybe its the fact that I’m a few months away from turning 30 or maybe its something else, but I know I need to start looking towards my future and going after what I want in life and doing the things I want to do in life.  Start living my life again.

For the first time in my life doctors have been able to tell me that I am healthy and they have been able to give me some clarity as far as my future goes, I’ve never had that in life.  It has always been a guessing game, but recently I’ve met some doctors who have been working with me and have given me confidence that I may live through my 30’s.  That is a big deal for me, my whole life my future was uncertain and I had no answers.

I know life is full of uncertainty and no one really knows what the future holds, but for me having an unknown dwarfism, my life expectancy was an unknown.  There haven’t been cases before me that we know of that can say “people with Saul Wilson can live until this certain age”.  But recently more things are being discovered and right now I feel confident as I enter into my 30’s, where as before it was more of a “will I make it to age 30?”.  There for a while, I didn’t know if I’d make it to 25, but I did.

For me another birthday, means I survived another year, it means that that is one more year that we know a person with Saul Wilson can live.

When you grow up with the medical field, you learn a lot.  You not only become thankful for all the doctors who have helped you along the way, but you become thankful for all the years of experience you have, because that is one more year that you can use to teach someone.  I know a lot of people don’t understand this way of thinking, but the thing is, my medical life is exactly what I was put on this earth for.  I’ve always known that my medical expertise was what I was going to teach this world.

This is my life and while at times I’ve struggled with that, I am so very proud of what I’ve been able to do to help others.  I am so very proud of the life I’ve lived.  It hasn’t been an easy life, and I know many people don’t know that side of me and that’s because I didn’t want them too.  I don’t want anyone to remember me as one who was always sad and dealing with personal and medical struggles, I want to be remembered as the one who had those struggles but despite all odds, I still smiled, I still held strong, I still carried on, I never gave up!

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