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.
Children diagnosed around the ages of 5 to 10 have a great advantage. Watch Lucy’s 2 minute video.
OUR GOAL
To have every child diagnosed before the age of 10.
Learning techniques at an early age.
OUR OBJECTIVES
We will work towards our goal by:
Raising awareness amongst Physical Education teachers.
Helping to educate General Practitioners about muscle GSDs.
Making more child/parent centered diagnostic information available.
Helping to educate pediatricians about muscle GSDs.
Publications raising awareness of McArdle’s and other muscle GSDs.
OUR PROGRESS
We have produced a leaflet “At school with McArdle’s” to support an affected child in shool. However, there is no doubt that they also educate schools about the possibility of another child turning out to have McArdle’s. This will hopefully assist more children to get referred for diagnosis during their school years.
On the same lines, our “Medical Overview” booklet is aimed primarily at GPs caring for a McArdle’s person. There is no doubt that they also educate GPs about the possibility of another case of McArdle’s arising in their practice.
We have a page in the McArdle’s section of the website to help people who are searching for a diagnosis to consider whether their problems may be due to McArdle’s. There is a particular section for parents of symptomatic children. We regularly refer people to this page via social media.
The preparation of Clinical Practice Guidelines (CPGs) for GSD5 and GSD7 led by IamGSD has helped clinicians, including paediatricians, be more aware of the condition and the diagnostic procedures. Published in Neuromuscular Disorders, December 2021, and available with Open Access.
We have produced a booklet of the CPGs, together with their supplementary material, and distributed this widely to neuromuscular specialists around the world.
With more children now being diagnosed, we are currently developing a study learning from parents about the early symptoms in their children. We anticipate this will help future parents, GPs, and specialists to identify possible cases of McArdle’s at an early age.
We are cooperating with other rare disease groups for newborn screening via genetics. This would identify conditions such as McArdle’s, even before symptoms arise.
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. Read his appeal here.
THE FUTURE
In addition to reducing the age of diagnosis for those who do get diagnosed, we want to greatly expand the numbers who are diagnosed, and to do this in childhood. A conservative estimate is that at present at least 50% of people who have McArdle’s never get diagnosed.