Living with Sanfilippo Syndrome: Reagan's Story

foreign is two and a half years old she's a happy toddler who loves to dance and sing and play six months ago we had some alarming news that Reagan was diagnosed with the deadly disease called San felipo syndrome a person has genetic defect in the enzymes that break down all the byproducts of cellular metabolism so if any of those enzymes is missing those products continue to build up through the life of the person and eventually start to cause some serious damage this damage is happening throughout her body that it started at Birth and it's just slowly happening each day right now she's a pretty typical two-year-old she has some minor delays but that's going to drastically change over the next decade or so on average around five or six they lose the ability to talk then eventually losing the ability to walk and even swallow usually on average leading to death in the early teen years from the geneticists you know we were told that there's no cure or treatment and of course we were devastated the particular tragedy of it is that that you watch your child develop and then watch them degenerate and it takes a long time so it's a very slow and painful process for this families and that's another reason that it's a particularly motivating disease to work with we feel so blessed that after a worldwide search pretty much our best Hope was right here at Nationwide Children's in our own hometown I found Dr Flanagan's email and I emailed them probably about 9 30 at night and literally within a minute or two I'm getting the phone call and it's him just saying he's still in the office he saw my email and we talked for probably 30 40 minutes and just telling me all the details about this great research going on it was a great feeling to know that there's someone right here who really cared about what was going on with us Reagan's a spirited little girl she's full of energy her parents are really wonderful parents to her with the kind of therapies we're developing our goal is to interrupt the progression of this disease and preserve preserve what Reagan and children like like her have unfortunately we don't have anything that we clearly know slows the progression of the disease that's why we're working so hard to move forward with the trial the beauty of our Center here is that there are clinicians that work with us side by side that are really enthusiastic about our undertaking trials like this the clinical trial of this gene therapy treatment that we're hoping will be the answer for us are not fully funded yet so funding always is needed Reagan represents all of the children at San Felipe disease to see your face out there to see her telling her story really speaks to the impact of this disease on many many families our personal goal is to find a cure for San Felipe and for Reagan we used to think ahead to the Future all the time and I feel like we don't do that very much anymore because we can't Envision a life without our daughter and we're hoping children's can help us look to the future again foreign

Channel: NationwideChildrens

Views: 246,942

Keywords: MPS, Sanfilippo Syndrome, Sanfillipo Syndrome, research, gene therapy, clinical trial, neuromuscular, Flanigan, McCarty, Reagan, patient champion, marathon

Id: _P4yC-BhljM

Length: 3min 38sec (218 seconds)

Published: Thu Oct 16 2014