Jennifer: This is Hospital is a second home for 5 year old Mallory. Mallory has Pompe disease a form of muscular Dystrophy. She was diagnosed at 18 months old with a grim prognosis.
Lori Gross: Since that life expecting serum 7 years of age and that she just continue to deuterate it’s very scary for all of us.
Jennifer: In a healthy muscle cell there are fibrous and lysosomes, in patients with Pompe disease glycogen builds up causing the lysosomes to enlarge and the muscles to weaken. In the 1960 researches has discovered enzymes could help these patients.
Greg Grabowski: Took from then until know to develop a way to make enough enzymes to replace it inside the cells. And to make it work effectively.
Jennifer: Dr. Greg Grabowski says enzyme replacement therapy could lead to a longer life fro kids like Mallory.
Greg Grabowski: And the trials that are ongoing now some of the results have been absolutely dramatic of these children who are paralyzed lying in bed unable to hardly breathe getting up and walking.
Jennifer: Mallory was not expected into the trial she missed the age cut off date by 3 months then mom wrote a pleading letter.
Lori Gross: And she just gave up and given up on your child and you should never give up on your child.
Jennifer: Mallory got the enzyme therapy and has made huge strikes.
Lori Gross: Her upper body her facial expressions I mean it’s a complete turn around with that enzyme. Oh you want this one okay.
Jennifer: Next year Mallory will go to kinder garden and her parents say they will start saving for her college fund. This is Jennifer Matthews reporting.
Transcription by:
Scribe4you Transcription Services