A novel enzyme replacement therapy gives new hope to POMPE patients

We closed off with an interview with Professor Priya Kishnani - Paediatric geneticist from Duke University. Last week Friday she hosted a press conference regarding POMPE disease, a rare genetic condition which is vastly under-diagnosed in South Africa. The signs and symptoms of POMPE disease can start at any age and without treatment causes progressive weakening of the muscles, heart and respiratory system leading to profound disability, ventilator dependence and cardiac failure. Also speaking during the press conference was Kelly du Plessis mother of 3 year old Juan who was diagnosed with Pompe disease at the age of nine months old. The 2012 launch of a novel enzyme replacement therapy can prevent the devastating consequences of this disease, giving hope for children affected by the condition. For more information or support contact Kelly du Plessis on 072 623 6763 or send an email to info@pedalling4pompe.co.za alternatively visit www.pedalling4pompe.co.za