Re: Newborn screening for Pompe Disease

 

Canadian Association of Pompe (CAP) is a non-profit patient group representing Canadian families affected by Pompe disease. CAP would like to express its support to include Pompe disease in Provincial/territorial Newborn Screening panels.

During our Annual General Meeting, on June 22, 2014, our members met to discuss many topics, one of which was newborn screening for Pompe disease. We weighed pros and cons for screening both infant-onset and adult-onset patients.

As infant-onset patients are so severely affected, very little discussion was needed to unanimously support screening for such a devastating disease. It’s so crucial for these patients to receive timely treatment. Eliminating the time required for diagnosis can be a life-saving choice, certainly affecting quality of life. We felt there were no significant cons and fully support screening for infant-onset Pompe disease.

Most of our discussion was spent weighing the pros and cons of screening for adult-onset Pompe disease. Our concerns were; false positives, the burden on the patient/family of knowing, the potential burden of treatment before treatment is necessary, and the burden of reproductive choice. After very careful consideration, our reasons for choosing to support screening for late-onset Pompe disease were; eliminating the diagnostic journey, timely and correct treatment with active management throughout, and reproductive choice.

We recognize that current screening would identify both infant-onset and late-onset versions of Pompe disease. Our belief is that the cons we’ve discussed are outweighed by the pros for late-onset Pompe patients and far outweighed by the benefit to infant-onset Pompe patients. We hope that our perspective as patients/families will be valuable in decisions going forward.

Please contact me at anytime to discuss these issues further.

 

Best Regards,

Brad Crittenden, President

Tagged: newborn screening