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Transatlantic diagnosis correction, after 29 years!

Diagnosed with McArdle’s at age 8

Steve Wills lives in Indiana, USA, but through the main Facebook group for McArdle’s he connected with our McArdle’s Coordinator here in the UK, Andrew Wakelin. Steve realised his experience with McArdle’s was rather different to the norm. Andrew agreed, and when he heard that Steve was diagnosed at age 8, 29 years ago, he was concerned about the validity of the diagnosis. That was compounded when he discovered that all those years ago Steve had not had a muscle biopsy. And of course DNA testing was not available then.

Suggested genetic testing

Andrew suggested that Steve consider genetic testing to determine for certain whether he actually had McArdle’s. He thought it might actually be a fatty acid oxidation disorder such as CPT2. Steve went ahead with a gene panel test covering all the GSDs and the fatty acid oxidation disorders. In time the results came back: negative for McArdle’s (GSD5), but positive for Hers disease (GSD6). That affects Steve’s liver more than his muscles. It still involves some symptoms of activity intolerance, but not as severe as McArdle’s – which fits Steve’s experience.

Huge amount of relief

Having spent so much time researching McArdle’s over the years, Steve has now started researching Hers disease. Steve said:

“Big thanks to Andrew for pointing me in the right direction to figure out what was wrong with me. Even he will never understand the amount of relief I felt when I got my correct diagnosis. It’s nice to have a definitive answer after all these years. I feel that I am now better equipped to manage my condition.”

Others might follow Steve’s lead

Andrew commented:

“I am so pleased for Steve and congratulate him on biting the bullet of getting tested. His story is a great reminder that if anyone with a GSD (especially if diagnosed a long time ago) has a nagging feeling that perhaps their diagnosis is not quite right, follow Steve’s lead and seek genetic testing to confirm (or possibly change?) the diagnosis. It might change your life!”

Photo: Steve and his wife Jennifer are from Yorktown, Indiana.