After over 30 years of not knowing another family dealing with the same rare condition that our daughter Kelley had, we finally started to connect with others, thanks to the availability of the internet. At first, our correspondence was either through emails or phone calls. When I found myself often answering the same questions, I decided to put Kelley’s story into book form to share her experiences with others. Thus, in 2003, shortly before Kelley’s 40th birthday, Kelley’s Journey: Facing a Rare Disease with Courage was published. We were delighted that we were able to meet up with others while Kelley was still alive. The conferences we attended became happy highlights in her life.
After Kelley died at the age of 45, I set about to expand the book to include the final years of her life, and suddenly realized that there was so much to relate about all of the wonderful people we met that I couldn’t put it all in a simple update. I had learned that the many twists and turns on our rare disease path were similar to the families we met. So, I sent messages to other parents to ask if they wanted to participate in my new project of writing a book that would include their stories. A dozen mothers enthusiastically responded.
It became a two-year project to collect all of the information about the many aspects of living with mucolipidosis. During that time, my admiration grew for these warrior mothers and the way in which they handled very difficult situations, realizing they needed to overcome their fears and become strong, and sometimes vocal, advocates for their children. As I started to put all of the information together, I saw how many different categories of our lives were impacted, I remembered that one of the doctors that Kelley saw for a simple procedure twice a year made the remark after reading Kelley’s Journey, “I had no idea just how complicated her life is.”
I knew that the situations we had were similar to many others dealing with rare diseases. That was the reason I chose to separate the paragraphs in such a way that a reader could find examples of how others have dealt with comparable circumstances. Those chapters include discovery, receiving the diagnosis, being immersed in the medical community, finding support, medical appliances, pain, surgery, educational challenges, family life, close calls, facing an uncertain future, and saying goodbye.
The reader of Diagnosis: Rare Disease may recognize the situations that are similar to their own experiences, even though the particular doctors and hospitals are in different locations. While most of the health care workers that we have met have been humble, dedicated, and caring individuals, we did have some negative experiences along the way. Since the situations, and the effects they had, are paramount, the names of particular doctors or hospitals are omitted. It’s my hope that the stories of these will bring about awareness, which is the first step toward reaching the day when answers are found for all of those who are affected by rare diseases. I pray that many members of the medical profession will read this book in order to better understand and help the rare disease patients they meet.
– By Denise Crompton
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