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CAMPAIGN 1

REDUCING THE AGE OF DIAGNOSIS

THE ISSUE
In muscle GSDs symptoms are frequently apparent before the age of 5 and certainly by age 10. Despite being taken to the family doctor at a young age, diagnosis is often delayed on average 20 to 25 years. The same applies to most of the other muscle GSDs.
Because undiagnosed people are unable to understand how to manage their condition, many will damage themselves. Most will also have significant psychological issues relating to self image, anxiety and depression.
OUR GOAL

To have every child diagnosed before the age of 10. 

 

OUR OBJECTIVES

We will work towards our goal by:

  1. Raising awareness amongst Physical Education teachers.

  2. Helping to educate General Practitioners about muscle GSDs.

  3. Making more child/parent centered diagnostic information available.

  4. Helping to educate pediatricians about muscle GSDs.

Jeremy Michelson gives an account of his diagnostic odyssey, and makes a case for newborn screening though genetic testing for many more rare diseases, including his own – GSD7.

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