High profle exposure for muscle GSD

McArdle disease and Pompe disease (GSDs 5 and 2 respectively) are both mentioned in this new series from Netflix and The New York Times.

“Diagnosis” is a groundbreaking documentary series from The New York Times, Netflix and Dr. Lisa Sanders that harnesses the power of you, our readers, to help find diagnoses for people suffering from mysterious medical conditions. Your ideas could potentially help save a life. Readers with the most promising suggestions may be included in an eight-part Netflix series that will air in 2019.

Angel’s history of rhabdomyolysis

In April last year the story of a young woman named Angel was written up on the website of The New York Times. Readers were invited to submit suggestions for conditions which might be the cause of her muscle pain and rhabdomyolysis. Angel’s regular hospitalisations had mystified the doctors for nine years.

Video interviews

Over 2000 people submitted their ideas and amongst them were several mentioning McArdle’s and Pompe. AGSD-UK’s McArdle coordinator Andrew Wakelin and IamGSD’s Jeremy Michelson were both interviewed over Skype for the programme.

Angel’s story has become episode one of the series and it is available now. In the final video, altogether McArdle’s is mentioned about eight times and Pompe twice. McArdle’s is briefly discussed in the programme. Nothing of Andrew and Jermey’s video interviews are included but Will Veazey from Mississippi makes a short appearance.

Final diagnosis not GSD

The likely diagnosis was narrowed down to just two candidates – McArdle disease and carnitine palmitoyltransferase 2 deficiency (known as CPT2), a disorder of fat metabolism.

Whole Exome Sequencing finally identified the diagnosis as CPT2, not McArdle’s. Never-the-less it makes some good exposure for McArdle’s and GSDs generally. Maybe some other young people struggling with these symptoms will get a head start to a diagnosis.

Read the last update on Angel’s diagnostic journey.

Watch Angel’s story in Diagnosis Series 1 Episode 1.

Photo: Angel, a long wait for a diagnosis. © The New York Times.