Rare Disease Day 2016 - Fighting the HPP Battle

One of the things you get used to having a child with a rare disease is the constant feeling that you are on a rollercoaster. One day, you are on top of the world. Then suddenly, your stomach drops and you're in freefall, fearing the worst, when you are scooped back up safely. Only then can you manage to smile.

On this Rare Disease Day - we have a reason to celebrate. We are safe in our rollercoaster, seatbelts buckled, grinning ear to ear as we have conquered a big drop. We are on the heels of FDA approval, and just this past week, visited Pittsburgh Children's Hospital for the final time, transitioning from an investigative drug to a commercially available therapy. We are incredibly grateful thinking about what this means for hypophosphatasia and patients like Cannon. 

Five years ago, it was a different story. We were freefalling. Concerned parents bringing our 4 year old son to Pittsburgh, trusting that the doctors would take care of him, hoping that an experimental medicine would make Cannon stronger, and praying for a miracle. The thought of subjecting a happy little boy to injections of an untested, unknown, foreign substance about killed me, but it was the right thing to do. We were desperate and willing to do anything to help our son and other HPP patients. To not participate contradicted everything we had been fighting for. But we couldn't ignore that nagging feeling of fear ever present in the back of our minds, and we tortured ourselves wondering, what if?

Five years later, it feels surreal. We conclude this chapter in our lives. We watched Cannon improve right before our eyes. We remember his cute little scoot, when he couldn't walk or even walk. We watched him pulled in the wagon during the Halloween Parades at school. I remember feeling filled with joy watching him walk for the first time with his green walker and his backpack as he proudly walked to school. Now, with the help of his drug, he has since played lacrosse, basketball and golf. He had fallen off the growth charts succumbing to HPP. Today he continues to show progress, registering in the 25th percentile for height. His initial long jump was a mere 3 inches, today, we registered at almost 3 feet.

Today we have our final round of tests, pupil dilation for ophthalmology, kidney ultrasounds, skeletal xrays, bloodwork, physical therapy endurance tests and more. After 15 visits, the doctors, nurses and study coordinators have become like family, watching Cannon transform from a boy who couldn't walk to a child we can't stop from running. 

However, as we make our rounds, I can't help but notice the look on the other parents' faces, that confused, scared look of suspecting something is wrong, but not knowing what, or worse, finding out that something is.

We are fortunate to be able to leave this hospital. There are some that may never leave and others whose lives will never be the same. As parents of children with a rare disease, Rare Disease Day gives us the platform to share our stories and realize we are not alone. This year, we celebrate the successes we have seen in our fight against HPP. We see other children have access to therapy and see them getting stronger. We feel like we are making a difference because now, when we tell people Cannon has hypophosphatasia, they say, "Oh yeah, I've heard of that!"

It has a blessing to have been on this journey with Cannon. While we were in the waiting room with a room full of children and their parents, Cannon just said to me, "Hey mom, did you see how cool that kid's wheelchair is?" and I realize the incredible lesson we have learned - one that you just can't teach in school. It hasn't all been easy. We have been brought to our knees -- but have also witnessed miracles. We have gazed at the world through a lens that has completely changed our perspective on life. We find happiness in the small things, joy in simplicity and hope in the darkest of moments.

I want to thank all of the incredible people that have helped us throughout the years. Nadene, Danielle, Dr. Vockley and Chris.. just to name a few... words cannot express our gratitude and we can't thank you enough. Hope you all celebrate on this Rare Disease Day, for your work has made a huge impact in the lives of patents with HPP. Thank you.