Parents: Help in an effort to reduce the time to diagnosis! (Survey now closed)

Thank you to all who participated!


Take a survey about your first concerns for your child with Duchenne.


The National Task Force for the Early Identification of Childhood Neuromuscular Disorders is conducting a survey.  We want to learn more about parents’ first concerns about their child and how they described those concerns to their healthcare providers.  The Task Force understands that there may be a long time between when a parent first has worries about an infant or child and when the diagnosis happens.  This survey is one part of an outreach program designed to reduce the time to it takes for families to get an accurate diagnosis of neuromuscular disorders. 


The Task Force is made up of medical professionals and advocates  from several neuromuscular organizations, including Parent Project Muscular Dystrophy.   The Task Force and this survey are funded by the Centers for Disease Control and Prevention (CDC).


If you have a child diagnosed with DMD, BMD, CMD, or SMA, and if your child was diagnosed between the ages of 6 months and 9 years of age, you are invited to take part in this brief survey.  The survey is completely anonymous and we do not collect any personally identifiable information. 

 


Please respond to this survey by March 15th, 2010. Thank you for helping us with this important project. 

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Replies to This Discussion

Joshua was diagnosed at only 6 weeks of age, but why can't they do the heel prick at birth like they usually do and diagnose from it like they did on Joshua? For him there is no history of this disease anywhere in the family... how else would we have known?

Naomi
Hello Naomi,

Individual states determine what newborn screening tests are administered . There are many reasons why they choose to test or not test for specific disorders. Some believe the tests are not justified because DMD is a rare disorder or that there are few therapies at this time while others advocate for the test to help families prepare for caring for an affected child. The CDC conducted a study to learn about family acceptance of infant screening for DMD, yet I don't believe the results have been published. I agree with infant screening (Six weeks to six months.) provided appropriate support and information is given to families.

Brian Denger

Joshua's mom said:
Joshua was diagnosed at only 6 weeks of age, but why can't they do the heel prick at birth like they usually do and diagnose from it like they did on Joshua? For him there is no history of this disease anywhere in the family... how else would we have known?

Naomi
I tried to take the survey but I get a a box that comes up from PPMD mail that asks for a username and password. It won't accept my PPMD username and password. Is that the one it wants? If not how do I register?
Karen Barnett said:
I tried to take the survey but I get a a box that comes up from PPMD mail that asks for a username and password. It won't accept my PPMD username and password. Is that the one it wants? If not how do I register?
I get the same, asking for user name and password.
There is no user name or password for the survey. Use this link: https://www.surveymonkey.com/s/97KP7XZ to take the survey. Sorry for the confusion.

Brian Denger
Thanks - that linked worked.
Naomi, heel prick tests can not be used reliably to detect DMD at birth as the CK levels are already elevated in newborns due to the physiological stresses placed on their bodies during childbirth. Therefore it is very easy to get false positives and in some cases false negatives.


Joshua's mom said:
Joshua was diagnosed at only 6 weeks of age, but why can't they do the heel prick at birth like they usually do and diagnose from it like they did on Joshua? For him there is no history of this disease anywhere in the family... how else would we have known?

Naomi
My son Kevin was 9, 5 months away from turning 10. Very late diagnosis. We had a muscle biopsy done 3 months to determine if it was or not as the blood tests came back negative 3 times. We got the final results a month after he turned 10, in March 2007. I pray that they can find this earlier in other boys, rather earlier than later. Either way, it is very heartbreaking.

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