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Editorials

Pompe in the News: What Happened to the Truth?

By: Tiffany House--AMDA President posted on: March 03, 2017

On February 28, 2017—Rare Disease Day—Pompe disease was once again the subject of national media attention.

During his Joint Address to Congress, President Trump brought national attention to patients suffering from rare diseases in general, and Pompe disease in particular.

As a Pompe advocate I am very happy that millions of people have now heard of our rare disease. The more attention a disease gets, the more awareness it generates, and down the road maybe more patients will be diagnosed and helped as a result.

However, I am also disappointed that another result of this attention is that the true heroes who developed a treatment for Pompe were once again ignored.

Since 2003, a myth has been perpetuated that Myozyme (Lumizyme in the US) is the direct result of work done by Novazyme and John Crowley. That is not the case, and has never been the case.

The truth is that the “product” created by Novazyme was never used in a single patient. The truth is that Myozyme/Lumizyme is NOT a result of the collaboration between John Crowley and Dr. William Canfield at Novazyme.

The truth is that William Canfield admitted at a conference of his peers that the “super enzyme” he created wasn’t so super—in fact, the slides that he had shown people to prove how great it was at clearing glycogen were made using the wrong stain and he was never able to re-create the same results. (See the clip from the 2003 IPA Conference in Heidelberg, Germany).

At the end of the day, the credit for developing an enzyme replacement therapy for Pompe goes to many people from all over the world. At the top of the list are the teams from Rotterdam, the Netherlands and Duke University who have devoted decades to research into Pompe and completed the first successful clinical trials with enzyme replacement therapy (albeit using different techniques).

Unfortunately, this is not the first time that the truth has been misplaced in the attempt to tell a good story. It happened when Quest published an article in March 2003, and when Geeta Anand wrote “The Cure.” For some reason, the hard work of many dedicated individuals gets left in the dust to tell a “story.” To me, that is a shame.

If you are interested in learning more of the TRUTH, please visit Dr. Kevin O’Donnell’s blog at: http://www.pompestory.blogspot.com. Kevin was a founding member of the International Pompe Association and was there to personally witness the triumphs and tragedies that have plagued our community.

For now, I would just like to caution everyone about believing everything they see and read in the media.  If you want to know the truth, seek it out for yourself.

Disclaimer: The AMDA does not endorse any of the products, medications, treatments or information reported herein. The website and its contents is intended for informational purposes, only. We strongly advise that you discuss all medications, treatments, and/or products with your physician.

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