Here is Sally’s column for November. Good stuff
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by Sally Nantais, published November 4, 2007, The News-Herald
Have you ever noticed that once in awhile you’ll have an experience that helps to put your life in perspective?
I had such an experience in October when taking part in a Project DOCC — Delivery of Chronic Care — panel presentation at the National Society of Genetic Counselors Conference in.
Project DOCC was founded by Maggie Hoffman, Donna Appell, and Nancy Speller– themselves parents of children with disabilities.
Project DOCC was created as a means to improve the quality of care for severely chronically ill children by educating medical professionals about their special needs as communicated by volunteers giving a parent’s perspective.
I had the opportunity to observe a Project DOCC presentation, in June of 2006, conducted with five parents of children with Duchenne Muscular Dystrophy (DMD).
The parents represented children across the spectrum of a diagnosis, some during the early stage, and others during the late stage. The project not only helped to educate others about DMD but also focused on the non-medical aspects of the diagnosis, such as the human factor, and the quality of life of the afflicted. .
When Katie Clapp, from FRAXA Research Foundation, asked if I would be able to spend a day into be a part of a Project DOCC panel I couldn’t resist the opportunity to sit on the other side of the table, giving the parents perspective.
In this presentation, Maggie did something very different with the project. The panel did not consist of all caregivers dealing with a common condition, but rather individuals living with or caring for individuals with a genetic condition.
Naturally, I represented Fragile X syndrome and I was partnered with individuals dealing with Hermansky-Pudlak syndrome (HPS), Duchenne Muscular Dystrophy (DMD), Marfan syndrome and Breast Cancer.
The five of us had never met until breakfast on the morning of our presentation. Prior to meeting, Maggie provided each of us with a list of panel questions to answer as it related to the genetic condition we were living with.
It was not a simple matter of filling in the blanks. Maggie worked independently with each panelist, creating focus and clarity in the answers, polishing what would become our script of sorts.
During breakfast, Maggie provided a seating assignment, a list of who would respond to what question, in what order from the scripts created from our questionnaires.
Immediately following breakfast, we went to the conference auditorium and presented before the 900 individuals attending the conference.
Maggie wove our stories intricately together into one powerful presentation in which we not only offered models of “best practice” guidelines but lessons learned from being at a receiving end of a genetic diagnosis.
It was information that genetic counselors, geneticists, and genetic counseling students would never experience within the confines of their practice or classrooms.
We all had stories to share of our experiences on the road to discovery with our unique genetic conditions.
Imagine what it was like sitting next to someone with HPS who related how they diagnosed themselves, prior to the official medical diagnosis, discovering the prognosis is often fatal, shortening ones life expectancy.
Imagine what it must be like to be a parent of two young men diagnosed with DMD in which you learn your child may be lucky to survive into his 30’s.
Imagine what it was like driving to work one day and suffering a massive heart attack that was a result of a genetic condition, Marfan syndrome, that you didn’t know existed, let alone have.
Imagine learning after it was too late that your breast cancer was a result of a genetic pre-disposition in your family.
Imagine what it was like learning you carried the fragile X gene that was a leading cause of mental retardation and currently the leading genetic cause of autism, discovering it had been silently lurking unknown in your family for four generations.
The most amazing thing of all was how through Maggie’s guidance we spoke as one voice, and one condition was not considered more important than another.
We began that day as five strangers, with uncommon diagnoses. By the end of the presentation, we were one, with a common goal, to make a difference in someone else’s road to diagnosis.
We were helping to educate genetic specialists from the individual and/or parent’s perspective.
It was a humbling and truly powerful experience and one that I owe to my son Austin, and to fragile X.
Without Austin and fragile X being a part of my destiny, I would have never met Heather, Brian, Vicki, Cherine or Maggie. My world would be a much smaller place, with a lot less meaning.
The next time I ask myself “Why me,” I’ll stop and think ofand I’ll know why me.
Learn more about Project DOCC at www.projectdocc.org