Rare Disease Day

Five years ago, I had no idea that the last day of February was dedicated to raise awareness for Rare Diseases across the United States and world.  

I had no idea what qualified a disease as rare

or how common having a rare disease actually is

I didn't know that children with rare diseases had to fight to have a childhood

And I was under the impression that if a person was sick, doctors could help and there was a treatment.  I didn't know so many people lived undiagnosed and that so many conditions didn't have a treatment or a cure.

Five years ago I was caring for an oxygen dependent, medically fragile infant with failure to thrive in between two of our longest and scariest hospital stays, just days before I revived him for the first time.  Five years ago I thought my baby had a bad cold that he would grow out of.  I thought his "syndromic features" were just my perfect baby's unique features.  5 years ago, I was in denial. I didn't know of this rare disease world, and I certainly didn't want to belong.

Three years ago we came to know what Rare Disease Day was for the first time
My beautiful boy's face was painted by a world famous artist and shared with the world in the Beyond the Diagnosis Exhibit sponsored by the Rare Disease United Foundation.  It's hard to put into words what this meant to our family.  In fact, it requires its own blog post called Leaving His Mark.  It was through this experience that we realized that the rare community was a family, one to which we belonged.  We embraced it dearly since we didn't have a diagnosis.  The Rare community was where we felt we belonged.  Here they loved my unique boy and celebrated him.  They saw beyond his medical diagnoses, tubes, medicines, and disabilities.  They saw Jayson.  Rare Disease Day came to mean something to our family.

Two years ago I fully celebrated Rare Disease Day for the first time.
My son, family and I had come a long way.  We had gone from mourning to accepting to understanding a long list of complex medical conditions our son had been diagnosed with.  We were more familiar with living a rare, complex and undiagnosed life than anyone could ever want to be.  We knew what it was like to search, research, and pray for answers that never seemed to come.  We had contemplated what the statistic 30% of children with a genetic disease would not live to see their 5th birthday meant, and we had enough experiences to know our son very well may be a part of that 30%.  We had just been told in a recent genetics appointment that getting a diagnosis was highly unlikely and not worth searching for anymore.  Our insurance company crushed our last hope for answers by declining our request for them to cover Whole Exome Sequencing.  Our words seemed to fall on deaf ears when we proclaimed time and time again that a diagnosis WOULD in fact change EVERYTHING.  We had just lived through one of our most challenging experiences that proved that fact.  Our biggest fear as parents living in the world of the undiagnosed was that we would miss something critical that would significantly impact Jayson's health or life.  Unfortunately, that fear had become a reality just months before Rare Disease Day.  Jayson was found to have multiple suture craniosynostosis, a condition he was born with, and it had gone untreated for nearly three years which resulted in long-term intracranial pressure, and even signs of brain damage.  It required that he had an emergency, highly invasive surgery that afterwards required us as his parents to hold him down twice a day to turn two rods sticking out of his head to expand his skull for about 5 weeks.

Two years ago I attended Rare Disease Day events alone while my husband cared for our son who had just had his distractor rods removed from his head.  His internal hardware had broken through the skin and was exposed, and he was being treated for a superficial infection; at least, we hoped it was still superficial.  Two years ago I attended the first Utah Rare Symposium with tears in my eyes because I was fearful to leave Jayson for the day with him being in such pain.  I felt exhausted, defeated, hopeless, frustrated and alone.  I prayed for some inspiration.  I prayed for something to be said to spark my passion for answers once again, to remind me that even though all the odds were against us, there was still hope.  I prayed for me to meet some new friends who could lift me up in one of my darkest, loneliest hours.  Fortunately, all of my prayers were answered at the Utah Rare Symposium that day.

 

It was during this Utah Rare Symposium that everything changed.  It was a huge turning point in our journey.  I met people just like me, raising and caring for children who had syndromes without a name.  I met moms who had older children who had just been diagnosed, and they were some of the first and only in the world.  I heard speeches from families who had been where I've been, felt what I felt, and persevered.  They got answers when everyone said they wouldn't.  They started foundations.  They raised money.  They found other families.  They were trying to find a cure.  They were my people.  I met doctors and geneticists who took the time to answer some of my questions and tell me to keep fighting.  And I met GeneDx, the laboratory that would later run my son's Whole Exome Sequencing just a few months later.

Two years ago, Rare Disease Day came to mean something great to me.  It wasn't something to mourn.  It was something to celebrate and look forward to.  It was a almost a holiday to celebrate in my crazy, medically complex world.  It was an annual occasion to get together with other rare families, doctors, geneticists, researchers, and laboratories to fill my cup, refuel, be inspired and gain focus and direction.

Last year, Rare Disease Day was better than ever!  
I volunteered and participated as an Executive Committee member of Utah Rare!  I was interviewed by a newspaper and an article was written about my family.  We shared our story with others when just a year ago I didn't think we'd have much of a story to tell.  I knew celebrating Rare Disease Day had officially become a tradition for our rare family.

And at the end of the Utah Rare Symposium, Jayson and I made a wish and sent it up to the sky with a balloon.

Our wish was heard.

And here we are in 2017, in the middle of celebrating our third Rare Disease Day!
It's hard to put into words the excitement I have felt this week celebrating my special, rare boy and our rare friends.  I continue to volunteer with Utah Rare on the Executive Committee, and this year I was asked to speak at the state Capitol event as well as at our upcoming symposium.  I am sharing our story with even more people.  It takes me out of my comfort zone and exposes my deepest fears and insecurities, yet empowers me at the same time.  We are moving forward and not looking back.

Those previous years I feared we would never be where we are now.  We are literally living the rare disease dream.  In the past few months, we have learned that Jayson's Whole Exome Sequencing results mean something.  We discovered there were others with Jayson's MN1 mutation.  We received notification that other geneticists and researchers were interested in studying Jayson's mutation.  We heard the other children shared similar characteristics and conditions with Jayson.  We were asked to sign and give permission for a publication to be written which to claim MN1 was a disease causing mutation and learned Jayson was one of SIX children in the world with this gene mutation.   And this week as I researched MN1, I saw it had officially been categorized as "Likely Pathogenic" from "A Variant of Unknown Significance".  So much has happened in such a short time, and we can hardly wait to see where we are during next year's Rare Disease Day!

While it may be weird to say that we CELEBRATE Rare Disease Day, we really do.  We have come so far.  Jayson has come so far.  Genetics and research have come so far.  There is a lot to celebrate.  And most days of the year people look at our son with sorrow and sympathy, feeling badly for all he can't do due to his genetic disease.  But during Rare Disease Day and the week of festivities we celebrate his uniqueness, his milestones, and even his mutated genes.  It makes him one of a kind.  It makes him special.  It makes him Jayson.  And while I would do anything to make his body healthy and pain free, I love absolutely everything about my silly, quirky, not-so-typical boy and I love feeling free to celebrate his uniqueness this time of year with others who are doing the same.

Over the past 5 years, Rare Disease Day has come to mean something significant to our family.
Thank you to those who celebrate with us and help us spread awareness.
Not only do these Rare Disease events lift our spirits in our difficult journey, but we hope our efforts to share our story and spread awareness help bless the lives of other rare families just as our rare family with Utah Rare, Rare and Undiagnosed Network, and Rare Disease United Foundation has done for us.