Mickey Ears, Zebra Stripes, and Electrical Tape... The Long Road to Diagnosis!

Twenty years ago, at the age of 14, symptoms of my disease started to surface out of my body.  It started with a full-on rash that my pediatrician diagnosed as Scarlet Fever. Yes, the same disease the little boy had in the story, “The Velveteen Rabbit”.

A myriad of mystery symptoms followed without any answers, and within a year I became so desperate for relief from the extreme pain, that I was wrapping my rib cage with electrical tape.  I transitioned from carrying a full backpack everywhere I went, to visiting my locker between every class just so I could get a bit of relief by lightening the load on my creaky, achy, agonizing body.  Of course, that’s the year the rolling bag appeared everywhere, but I refused to be that kid in high school! It was hard enough being the band geek, let alone the kid who always got sick - that bag was NOT going to happen.

Another similar year passed without answers but the normal kid in me was excited by a planned family dream vacation to Disneyland in the summer.  I willed myself to ignore the slowly worsening symptoms, instead focusing on the brief respites as 'signs it was over'.

Then, my world shattered.

Almost overnight, my ankle was swollen to the size of a softball; hot and painful. A week before our scheduled departure, I dropped about twenty pounds in a week thanks to the latest infection.  Suddenly, we were scheduling exploratory surgery, since my latest batch of tests had (again) come back negative.

The next day, my father rented a wheelchair.

I knew it was serious, but yet as kids, we have an innate ability to roll with the punches and see the silver linings.  I was determined to enjoy the vacation - and not to ruin it for my family. 

Yet, as I sat in that uncomfortable wheelchair in a location where 'dreams come true', I was silently praying for mine – a diagnosis.

 A treatment or cure would've been great too, but the not knowing what was happening was all-consuming. Apparently, Mickey and Minnie must have magical powers; as after a fun-filled day and while admiring a beautiful sunset, I remember that the phone rang, and my pediatrician had an answer, and I had hope.

It took over two years to receive a diagnosis of ankylosing spondylitis (AS), one of the many forms of autoimmune arthritis.  It was an odd diagnosis, not because I was a kid with arthritis (it's not just an 'old-person' disease), but because this type of the disease was relatively rare and usually diagnosed among adolescent men - most juvenile patients were diagnosed with Juvenile Idiopathic Arthritis (JIA).

As it turns out, these rare diseases might not be so rare after all.

The difficult challenge is that disease symptoms often overlap, and the biochemical or genetic testing that can confirm diagnosis are often skipped or missed.  For example, Farber disease is classified as a rare, metabolic disease that usually has three hallmark symptoms that appear in childhood: joint pain or contractures, bumps (nodules) under the skin, and an increasingly hoarse or weak voice.  As many as 70% of patients with these symptoms are misdiagnosed with JIA. Currently there are only about 80 cases of Farber disease officially documented - worldwide.

Having finally found my specific answer, little did I know this was only the beginning of a new whirlwind chapter (perhaps a new book!) in my life. I grasped for what this meant for my future, the new challenges I would face for the the rest of my life and was thrown into the deep end of a world I hardly knew existed, and at the time without many of today's resources and options.

There are over 7,000 other rare diseases and currently 95% have no approved treatment, but this is changing and now there is hope for many more people.

Since the Orphan Drug Act was enacted in the United States in 1993, over 400 medicines have been approved to treat rare diseases, compared to fewer than 10 in the 1970s. I tried and failed one medication, but a second medicine developed is one that I rely on today. A drug that wasn’t approved for adolescents, nor my type of arthritis - but my doctor saw the value in how it would impact my life.  Seventeen years later, I’m still on that same medication and next weekend I'm squeezing an obstacle course race between medical procedures - but there's still much work to be done.

While so much amazing progress has been made in some areas, I'd be lying if I said it wasn't an ongoing battle - whether that's to be heard, or some days just to get out of bed.  There are still days where I feel like the little girl taping herself together to accomplish her dreams (but today I use kinesiology tape!), or the teenager stuck in a wheelchair. There are months where I see more doctors than friends, and with more questions asked than answers received.  It's easy to feel stuck walking a tightrope where nothing seems to move forward... but, I choose to continue to have hope, strength and courage.

For the first time in over five years, I finally have put together a team of doctors who are listening to my concerns regarding my health and who provide me hope that we will figure this out; but mostly importantly together - as the patient is the second expert in the consulting room.

I pull my strength from the connections I’ve made within the community to help drive me forward each day. I rely on the courage I’ve developed to continue to advocate for arthritis and other rare diseases by sharing my story so others who are going through similar challenges feel less alone.

I push just a little harder in May because it’s Arthritis Awareness Month. I continue to demand more from my healthcare providers, but also the public and even our government!  I strive to break down barriers and stigmas - one-in-four American adults are diagnosed with a form of arthritis and two-thirds of them are under the age of 65! I need your help too. So, how can you get involved? Here are some ways: 

  • Join the Breakthrough Crew at Clara Health if you haven’t already. The twitter chat every month is one of my favorites.  It was because of this connection that I learned I have a rare disease called Ehlers-Danlos Syndrome (EDS). My hypermobile joints makes for a cool party trick, but definitely complicates my arthritis treatment.

  • Join the Arthritis Research National Foundation #CureArthritisStreak. We are moving every day in the month of May for at least 30-minutes. Walking, running, biking, swimming, stretching, foam rolling, yoga, or even putting away your laundry; they all count!

  • Join the Walk AS One campaign this month. We are shooting for Mars with our steps by collecting them in the month of May to raise awareness specifically for Ankylosing Spondylitis.  If you use the hashtag #ASWalkSelfie, you’ll be featured on their Instagram page, which has been a great way to meet and follow other fellow Ankylosing Spondylitis Warriors.

Finally, I encourage you to share your zebra stripes. If you have a rare disease, you are not alone. Collectively, as many as one out of every 10 people have a rare disease, so come join us! I personally would like to welcome you because no one should have to fight alone...and remember, sometimes you just need to wear Mickey ears and enjoy the sunset - dreams can come true!

Note: This is a sponsored post. 

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Kelby is an ambitious arthritis advocate and Breakthrough Crew Ambassador. She is a Platinum Ambassador for the Arthritis Foundation and proud #RheumAthlete! Follow Kelby on Twitter and Instagram