Our 50-Year Rare Disease Experience: What We've Learned


As we approached Rare Disease Awareness Day, I thought back to when our 10-year-old daughter, Kelley, was finally diagnosed with an ultra-rare disease in 1973. There wasn’t a cure or treatment, and we couldn’t imagine ​a time when so many of us would be able to connect for a common purpose.

​We traveled a lonely road for many years before finding and joining a group with similar conditions in 1990. When attending a conference in 1996, we were disappointed no one had the same diagnosis as Kelley. Still, we hoped someday we would meet up with others, so we stayed with them, attending more conferences whenever we could. With receipt of each newsletter I searched the list of new members, looking for others with Kelley’s condition, and I contacted them. We really wanted to meet others who shared her diagnosis. At first correspondence was spotty, but when the internet became available, we were able to exchange email addresses. In an attempt to answer many of the questions that the newly diagnosed families had, I wrote a book about everything Kelley had been through at that time. “Kelley’s Journey: Facing a Rare Disease with Courage” was published in 2003.

Shortly after that, we were invited to join another organization with similar conditions, and in 2005 we attended a conference where, for the first time, the doctors and researchers actually talked about the fact that they were working on Kelley’s disease. It was wonderful to meet with others with the same and similar conditions, learning how much we had in common, even though there were variations in the ways our families were affected. We saw how much could be achieved when the families came together for a common cause of advancing research in their own and other conditions.

After ​​Kelley died at the age of 45 in 2009, I prepared to update my original book, only to realize that there was a much more comprehensive book waiting to be written. A dozen other mothers answered my many questions and shared their rare disease experiences for “Diagnosis: Rare Disease,” published in 2014.

At a 2015 Conference there were 175 attendees from nine countries, 30 of whom were professionals. It was gratifying to witness so much progress and hope for all families dealing with rare diseases. What a long way we have come, witnessing what can happen when all of us involved in the rare disease community work together, no matter what the name of the condition, to find ways to raise money and awareness of the needs of those who must cope with complicated conditions. Most caregivers are tired and fragile at times, but we’ve seen what can happen for the benefit of everyone when we remember no one is perfect. When working to make my own personal corrections, I remember once hearing, “Consider how hard it is to change yourself, and you’ll see what little chance you have of changing anyone else.”

With so many now working on rare diseases, we must maintain a strong partnership between the medical community and all rare disease groups, encouraging each other and overlooking our differences so that everyone may benefit. As one of the conference doctors said, “We’re all on the same road.”

We want to hear your story. Become a Mighty contributor here.

TOPICS
JOIN THE CONVERSATION

Related to Rare Disease

Donald Trump at Joint Address

Donald Trump Acknowledges Rare Disease Day in Joint Address to Congress

On Tuesday, in his joint address to Congress, Donald Trump highlighted Rare Disease Day. ”An incredible young woman is with us this evening who should serve as an inspiration to us all,” Trump said introducing Megan Crowley, a college sophomore with Pompe disease. “Today is Rare Disease Day, and joining us in the gallery is [...]

Rare Disease Advocate Megan Crowley Gets Private Meeting With Trump

On Tuesday, Megan Crowley, a college sophomore with Pompe disease, will meet with President Donald Trump in a private meeting to discuss the needs of those living with rare diseases. The meeting, which happens to take place on February 28, Rare Disease Day, precedes Trump’s address to the joint session of Congress, to which Crowley will be [...]
Beautiful mother silhouette with baby

What It's Like Having a Child With a Rare Disease

What does rare disease mean to you? To me, rare disease means a mutated gene on my daughter’s chromosome 15. A gene that we all have but in her case, hers doesn’t work. It means very little answers followed by a whole lot of concern. It means a handful of wrong diagnosis until we found [...]
two women wearing hats at a concert

How the Men of Country Music Help Me Escape From My Rare Disease

San Francisco’s cool air fills my car. As the sound of Eric Church’s voice brings smile to my face. The music starts bumping through my speakers. For a moment I’m lost in the lyrics. My feet don’t feel the fire, even though they are moving to the beats. For a moment I’m lost in the [...]