Hello to all,

PPMD is leading a Task Force sponsored by the Centers for Disease Control to reduce the time it takes families to receive an accurate diagnosis for a pediatric neuromuscular disorder. Part of our work focuses on how families described their child's condition before diagnosis in an effort to develop a tool for clinicians to understand family concerns and refer them to a specialist sooner.

The Task Force has developed a Survey we hope you will take to collect as many terms/words used to describe a child's physical condition before diagnosis. Please take a few minutes for this survey. It will be advertised on the PPMD and MDA websites, so please take the survey only once.

Survey link: https://www.surveymonkey.com/s/97KP7XZ

Thank you in advance for your participation.

Brian Denger

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I prepared to take the survey but LGMD, which is what my son has, is not one of the selections on the first question. I understand that a lot of LGMDs do not manifest until adulthood but there are some that show up in childhood as well.
Thank you for your interest. Due to the limitations of the Task Force's charge we are not able to add other disorders at this time.

Brian
I filled it out, though I guess ours was sort of a unique situation. Hayden (our oldest) was diagnosed a few months after his third birthday. He was showing some signs, but not many. Previous to being diagnosed, he had seen a physical therapist because he was very late walking (about 26 months), but they thought he was hyperflexible and suggested that was the problem.

It was after his cousin was diagnosed, and I read up on DMD that I realized if his cousin had DMD, and his mother was a carrier, than Mandy (my wife) could also be a carrier. That's when we asked our family doctor to do a CK test on Mandy, and when it was inconclusive, we had one done on our sons. It would have been done eventually as the geneticist is still tracing it through the family, and we would have been near the top of that list.

The survey didn't account too much for a situation like that, but I tried to answer it as accurately as I could.
Dear Andrew,

Thank you for taking the time to complete the survey. I would describe your family's journey to a diagnosis as different than others. In fact every family's journey to diagnosis is somewhat unique. Still, your concerns and how they were expressed to a doctor are important to learn. Not all families follow a "typical path" to diagnosis, yet the Task Force is seeking specific elements we believe will help clinicians arrive at a diagnosis earlier. The sooner a child is diagnosed the earlier therapies will begin. As therapies improve I am certain this will become even more important.

Again, thank you for your interest and participation.

Brian

Andrew Kerr said:
I filled it out, though I guess ours was sort of a unique situation. Hayden (our oldest) was diagnosed a few months after his third birthday. He was showing some signs, but not many. Previous to being diagnosed, he had seen a physical therapist because he was very late walking (about 26 months), but they thought he was hyperflexible and suggested that was the problem.

It was after his cousin was diagnosed, and I read up on DMD that I realized if his cousin had DMD, and his mother was a carrier, than Mandy (my wife) could also be a carrier. That's when we asked our family doctor to do a CK test on Mandy, and when it was inconclusive, we had one done on our sons. It would have been done eventually as the geneticist is still tracing it through the family, and we would have been near the top of that list.

The survey didn't account too much for a situation like that, but I tried to answer it as accurately as I could.
I filled it out.

I'm glad to see something like this happening to help pediatricians recognize this earlier. In hindsight, all the signs were there 3 years before we had a diagnosis at age 8. We were repeatedly told there was nothing to worry about.
Same here. I can't remember how many times I was told that my son was autistic or that I was over reacting. He was finally Dx at age 8. I could have done more for him sooner had we known..
YEAH!!! Going to fill it out right now...it took FOREVER (until our little Trey was 5) for a diagnosis...since he had acquired all of his motor skills on time, they deemed his speech and lack of being able to run/catch a ball, etc to developmental delays...finally I started doing some research and told the docs that I wanted his CK level checked and if that came back positive I wanted the genetic test for DMD... Worse day of my life, and it was hard to put 2 and 2 together and know that you diagnosed it yourself, but I knew something was wrong and over 14 doctors told me that it was just a 'develpmental delay'...wish it would have been just that, but I can't believe no one took me seriously and now I have TREMENDOUS guilt for making him do some of the things I made him do before the diagnosis...like climb ladders, jump up and down off of the stairs, play soccer with us and the fustration that would come when he would just plop down in the middle of it...I was told by doctors that he was 'just probably being lazy'....uggh...
Keith, Christine and Cori,

Your family's situations are exactly the reason for this project. Clinicians have many of the needed diagnostic tools at their disposal, yet fail to recognize the signs of a serious delay. How many pediatricians watch a child walk during an office visit? Many children sit in mom or dad's lap while the physician relies on parent observations about motor skills and development, yet often discounting the family's concerns. The Task Force's goal is to provide educational materials and additional tools so doctors make referrals to a specialist ensuring a speedy diagnosis. From there additional education about relevant therapy will be crucial.

Thank you for your participation!

Brian Denger
I did take the survey but didn't think it really gave you an opportunity to talk about "specific elements" that you say the task force is looking for. I felt it was too generic.
Hello Janine,

The survey is only one component in this effort. Members of the medical community, healthcare professionals and Volunteer Health Organizations are participating in this effort. This survey is designed to learn specific words and terms families have used before diagnosis to eliminate the language barrier with clinicians. There are several other projects underway and planned the Task Force believes will help clinicians see the signs of neuromuscular disorders leading to earlier referrals and diagnosis.

Thank you for completing the survey.

Brian

Janine said:
I did take the survey but didn't think it really gave you an opportunity to talk about "specific elements" that you say the task force is looking for. I felt it was too generic.

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