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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Family Traditions

The last several years haven’t been easy for me.  Many people don’t know it either.  In the last 16 months so much has happened and I haven’t worked on processing it all and moving past it all.  But I know the time is now and that I need to, my best form of therapy has always been writing so I know I need to get back to that.

Sixteen months ago dad passed away.  The weeks leading up to that we kind of knew it was coming, but it’s still hard to imagine that he’s truly gone.  Even though dad is gone, he lives on through our family.  We have come together and become closer than we ever have.  We started having Sunday family dinners every single Sunday.  Sundays are the days for family and we are showing my nieces and nephews the importance of that.

The farm we live on is now a place where our family gathers and we are trying to teach the kids the value of family traditions and farm life.  Dad may be gone, but he will always live on throughout the farm and its our job as his children to show the next generation that same thing.  I know he is looking down and proud to see all of us come together as a family and make it work.

I think of dad every single day and miss him.  When he passed away it didn’t seem real, it still doesn’t.  It has taken me this long to truly process it all and say goodbye.  My dad was a very private person, so I don’t talk about him much.  I know he’s looking down and he’s proud of every single one of his kids and grandkids.

I am my fathers daughter, I too don’t talk much about how I feel and I too keep to myself.  Growing up with the many medical things I endured I never knew how to talk about what I was thinking or feeling because I knew I had to stay strong, that was something that I never grew out of but recently I’ve learned that I can’t keep holding back.

I’ve got to do whats best for me and I’ve got to do what makes me happy.  Writing makes me happy.  For years I’ve been scared to write exactly how I feel because I was so use to keeping everything in.  I think its time that I start about my life the way I always hoped I would.  It’s going to take some time, but I think I’m ready!

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Talking With The Doctors

After that first phone call the next few weeks I spoke a few more times with the doctors.  They told me again the same information as before, but I didn’t care, I waited my whole life to hear what they were telling me and I would listen as many times as they wanted to tell me.  I think that’s mainly because the first time I talked with them it all felt like a dream and it took a few times talking to the doctors for me to realize “ok yes this is really happening”.

The first time we had a group discussion with me, the assistant and a few of the doctors as they talked to me, I kept telling them “if you need anything from me, I’m 100% in!”.  The doctors explained about tests that they would like to do and that they’d like to talk with me and get more information from me, I kept saying “ok I’ll do it, I’m in”.  At one point they told me to think about it, to which my response was “I’ve had 29 years of thinking about it and I always said that if this ever happened I would do whatever I could do to help, so I’m all in!”.

After talking with the doctors and discussing my medical history, most of which they knew of from this blog, I realized something, I know my medical history like its the back of my hand.  I’ve grown up “studying” my life, I tried to absorb as much information regarding my surgeries and what doctors have told me, so when these doctors asked me questions, I started to realize at just how quickly and how much information had been absorbed.  They seemed pretty impressed too that I didn’t have to consult my medical records that much, some things I did, but for the major things, I would tell them “yes that happened” or “yes I have that”.  I know its my life, and of course I should know all of this information, but it was as they were talking to me that I realized just how into it I was to confirm everything, to finally have someone or something to compare my life too.  It was an amazing feeling to finally have that opportunity to start to share all of this with others.

Since having started this process with the doctors, I have learned that not only have the doctors been reading my blog to learn more, but also these other families have found my blog and have been reading my posts.

Finally my blog has become the platform that I hoped it would, this is just the beginning to a very exciting adventure!

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The Day I Had Waited My Whole Life For

In August of 2017 I got a phone call from a group of doctors who have been working to help me find out more answers.  When I returned the phone call and listened to what the doctor started to tell me it was very surreal.  I had been waiting my whole life for that phone call, and if I’m being honest, I never thought I’d live to see the day that that call came in.

I am 29 years old and I’ve searched my whole life to find others out there with the same dwarfism as I have.  That was the soul purpose for me to start writing this blog.  I wanted this blog to be the starting point of the conversation.  I wanted this blog to connect the dots one day, and that day was August 11, 2017.

I was standing in my kitchen with my mom and my best friend.  I switched the phone over to speaker phone so they could hear too what the doctor’s assistant was telling me.  As she started to talk she said the words we had waited years to hear, “we have found 8 others with your dwarfism”.  The assistant went on to tell me just how they found all these other families and how this had all started only about a week prior to the phone call.

As I stood there in shock and listened as she explained everything, it felt like a dream.  My fight that I’ve been fighting my whole life, was starting to come together and answers were starting to be answered.

It was truly the miracle that I never thought I’d see in my lifetime.

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I’m Writing So Others Can Learn

When I first started writing this blog, I did so because I was tired of googling “Saul Wilson Syndrome” and finding nothing.  I’d type that into google (that or the more technical term Osteodysplastic Microcephalic Dysplasia) and I’d scroll throughout google with hopes of finding something, anything…but there wasn’t anything out there.  The only thing I’d find is a medical journal that my doctor wrote when I was a baby.

I remember when my mom, my aunt and I first started talking about me writing a blog.  We were in Dallas, TX at the national LPA convention.  I had just met a doctor from Scotland who had actually heard of my dwarfism, which had never happened before!

I remember we were at the mall and I can recall riding down the escalators as mom, my aunt and I all started talking about what the doctor had told us about being interested in helping me.  It was all so exciting and new and as we all walked around the mall talking about it we had no idea that just a few years later, 5 years to be exact, the doctors would learn even more information!

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