We have published a new e-brochure, “Not Alone,” by Kelly Mahon Hessler. Based on interviews with a wide range of FSH muscular dystrophy patients, parents, and partners, this e-brochure assures those who have received a diagnosis that whatever they are feeling, others have had the same experience. We also provide resources for people to get information and find support, whether online or in person, from communities of fellow patients to professionals.
When people receive a diagnosis of FSH muscular dystrophy, they respond in ways that run the gamut of human emotions. For some, the initial shock of learning that they have a rare genetic condition may give way to relief that there is an explanation for their weird symptoms. For others, the news triggers grief, fear, or anger. Some people want to immediately learn everything they can, while others prefer to avoid any reminder.
These are all perfectly normal reactions. The important thing is to know that you are not alone. Talking to others who have been down this road can be reassuring. There are a myriad of ways to adapt. It can be equally validating to speak frankly to someone about your fears.
How did you respond when first diagnosed? What have you learned from your journey? What were the most (and least) helpful actions you took? Please share your story in the Comments section.
“Not Alone” can be downloaded here. We are deeply grateful to Kelly for taking on this important project.
I received my diagnosis as an adult without any prior notion of such a possibility. I knew of no family involvement. I thought I was just out of shape for a person my age. I once wondered if I had polio as a kid. I had friends who did.
When the neurologist said the words Muscular Dystrophy, it was like a swift hard punch to the gut. I had the immediate image of a “Jerry’s Kid” smiling for the TV cameras in his wheelchair on Labor Day.
That shock was then compounded by the statements:
“There is no cure or treatment.”
“You might be in a wheelchair when you get older.”
“We don’t really know what the rate of progression will be.”
“Here is the name of University based neurologist who can confirm the diagnosis.”
and
“Have a nice day”
Before Google, I then spent several hours at a local library trying to understand what an MD diagnosis meant.
My wife was was as more devastated with the diagnosis than I was.
The university neurologist then said something to the effect “Yep that’s what you’ve got alright, you might be in a wheelchair eventually but we can’t predict when, and may I have eight of my student residents give you a physical examination.”
Five years later I learned that I did not have Limb and Girdle MD but rather FSHD but still without a probable prognosis.
Now 25 years later-
I know what the disease progression has been and am better able to plan for my future.
There is still no known cure but there is extensive available information on promising new approaches for cures and treatment.
There are now ongoing patient registries accumulating data on patient history and FSHD progression.
There are now tests that can confirm the genetic origin of the disease and likely severity of the condition.
There is now an FSH Society whose mission includes providing the latest full breadth of information on this disease to those of us with the diagnosis, our families, physicians, therapists and researchers.
There is an internet to access this information.
In the future-
Hopefully full analysis of the data in the patient registries will give physicians the ability to provide an accurate prognosis to any diagnosed person based on age, present physical capability and genetic test results.
Hopefully the ongoing research will soon provide methods to treat and cure this condition.
Hopefully the FSH Society will be able to immediately provide full information on FSHD to a newly diagnosed person through the diagnosing physician in printed or electronic form.
Now and into the future-
Each of us with FSHD can assist the ongoing scientific efforts by enrolling in patient registries and participating in clinical trials when eligible.
Each of us can keep ourselves as mentally and physically healthy as possible by utilizing those capabilities we still have under our control.