By: Tiffany House–AMDA President posted on: February 15, 2010

What happened to the TRUTH?

In the wake of the recent article by Quest Magazine (January 2010) and the upcoming film “Extraordinary Measures” I feel that I must say something as to the accuracy of the story being presented to the world.

While some of the facts may be true, the story being told in the magazine and film are quite far from it. Yes, John Crowley’s children have Pompe. Yes, he formed Novazyme. And, yes, Genzyme bought Novazyme. However, that is about where the similarities end.

The truth is that the “product” create by Novazyme was never used in a single patient. The truth is that Myozyme 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 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: 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 in the movie. Remember that it is a Hollywood story. If you want to know the truth, seek it out for yourself. Don’t be fooled by Hollywood.

As of January 20, 2010 there has been no response from the MDA concerning my comments of their article, despite emailing them directly.

On Janurary 29, 2010 the AMDA received the following email from a woman who worked with Dr. Frank Martiniuk. Dr. Martiniuk was one of the first researchers the AMDA contacted, and he provided the AMDA with a great deal of information and advice.

Hi, I wanted to thank you for your post on “Pompe Disease: The Real Story”. I worked for and with Frank Martiniuk at NYU for 12 years and was a member of the team that published the first accurate DNA sequence for Acid Alpha Glucosidase.

Curiosity over the film led me to scan the book “The Cure” only to be quite distrubed by the description of Frank in this book where he was likened to the Scientist from “Back to the Future”, made it appear that he was non-responsive and not performing for Crowley. Although I don’t know everything about what really went on, but I know a lot and I know this was a reprehensible representation of a truly amazing man and offended me as if those words were directed at me (I was “Martiniuk’s assistant” who answered the phone in the book). I also know that Frank played a key role in helping put Genzyme on the right track, no biggie, that’s what scientists do. But he saved the company time, time that the Crowley’s didn’t have. I also know that Frank is the most brilliant and hard-working scientist I have had the honor to work with, and I’ve worked with some of the best. He could have been a world-reknown scientist, had he chosen a higher profile disease to dedicate his life to.

I’ve since earned my MBA and moved on, haven’t spoken with Frank for a couple of years, but was still with him when MDA failed to renew the grant that had funded his work on GAA, I had continued to follow his publications and my heart went out to him when I noticed he has been publishing on diseases such as leprosy. I just wanted to let you know that Pompe lost it’s most talented and dedicated scientist amongst all the celebration.

Thanks for letting me vent a little. I am very happy that your children have a treatment and wish them improved therapies tomorrow.