Coping and Advocacy

If you have read our other posts, “Faith. Hope. Love.,” “Death and Resurrection” and “Dance! Dance!, ” you will know much of our individual stories leading up to the moment when our universe was turned upside down. As Dave has explained, on Friday, August 30, 2013, we received a phone call that forever changed our lives. This was a call from a neurologist telling us our two year old daughter, Katherine Belle, likely has a rare and progressive genetic disease.

What immediately followed was complete and utter numbness, disbelief, and unbearable pain. It was so hard to believe that the world was still spinning when it felt as though it had suddenly stopped and literally knocked me off my feet.

I do not remember much of the moments, days, or even weeks following this devastating news, but I do recall repeatedly asking Dave to explain to me once again what disease the doctor said he believed Katherine had. The name was so unfamiliar.

We soon learned that INAD is very rare. Naturally, I wanted to know more about this vicious intruder who had taken our family hostage and threatened to kill my only child, but truthfully, I was afraid to look in those early days. I did not want to read what science had to say about my daughter’s fate and our future.

Infantile Neuroaxonal Dystrophy (INAD) is now a name I know all too well. And, after my mother read about the affects of this rare disease, and told me she wanted to take a “sledgehammer to her computer,” I could completely relate. It took me a while, but ever so slowly, each day I was able to read more and more about INAD until finally I knew what everybody did not want me to know. Right then I knew that we had involuntarily become a part of science. INAD is so rare, in fact, there are only two labs in the entire country that do this genetic test. Yet somehow, it had found its way to our doorstep.

By mid-October, (which felt like two years later) we had entered into the “coping” phase of our journey. The immediate numbness wore off, but today we live on an emotional roller coaster that quickly shifts gears from anger, denial, grief and depression, and is susceptible to change minute-to-minute, hour-to-hour, day-to-day. We have been to grief counseling and joined support groups. Mostly, though, we try to maintain as much routine as possible for Katherine Belle so she has a sense of structure and security. This is not an easy task when some days all I want to do is crawl into my bed and cry.

Needless to say, our lives were forever changed with this news. Sick time donations from kind and loving co-workers has afforded me the opportunity to spend as much time with Katherine as allowed while we face the difficult decision whether or not we are financially able to make the transition to a single income family with growing medical bills. (Dave has Type 1 Diabetes and is insulin pump dependent.) My husband’s co-workers have cooked us weekly meals. Friends and family have offered financial assistance. We are currently in the process of selling our home to lower our mortgage payment and move into a handicap accessible home. Our doctor is in Cleveland, which is a six-hour drive. We’ve already appealed (and won!) a denied insurance claim. I take Katherine to occupational and physical therapy appointments twice a week. And, although that genetic test for INAD came back negative, as of today, we live in that “unknown” diagnosis phase where “atypical” INAD is still on the table (Dave will explain more in his next post).

However, I do feel like we are the luckier ones. We are finding strength on this journey. We have learned the true importance of living in the moment, and we have the constant support of family, friends and even strangers who give us courage, strength, hope and love. We have so much hope. And faith. And love. Even if science never catches up with our own daughter, we hope and will actively advocate for others. And, as I am learning, there are many things that science cannot explain.

The medical aspect of our story is overwhelming and we’ve had to assimilate a ton of information quickly amidst our grief. It is true that your doctors and therapists become your family. We are all partners and advocates for Katherine Belle. We all have hope. We are all advocates for a cure.

As we take on more of an advocacy role not only for our own daughter, but for others who share this unimaginable journey of hope and survival, we want to arm you with as much information as possible to share in your own communities. It takes a village. As the Rare Disease Day slogan says, “Alone we are rare. Together we are strong.”

Rare Disease Day is February 28, 2014. Dave will soon share more information about rare diseases, our own advocacy efforts, and what we are facing in the coming months and years. In the meantime, please take a moment to read about Rare Disease Day on Facebook and share information and links with your networks.