A Story of Hope - Ellie McGinn

Ellie's Story of Hope

09.19.13 | By Christian Clymer

Delivering hope to millions of patients is the foundation of our industry. While the word 'hope' is highly personal to each patient, a common thread exists that unites all of us regardless of age, geographic location or socio-economic status. Without it, we would not be in a position to advance critical research that provides innovative new medicines to patients across the globe. By all accounts, 'hope' is the driver that keeps us looking forward.

This is especially relevant against the backdrop of Mitochondrial Disease Awareness Week, which runs through September 21. Mitochondrial diseases result from failures of the mitochondria, which create more than 90% of the energy needed by the body to sustain life. This woefully underdiagnosed spectrum of diseases primarily affects children and appears to cause the most damage to cells of key organs in the human body (e.g. brain, heart, liver, etc). In many cases, the disease will prevent victims from walking, talking, or even breathing.

The McGinn family of Arlington, Va., knows Mitochondrial disease all too well. Their 5-year old daughter, Ellie, was diagnosed with LBSL (Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation), a rare strain with less than 100 reported cases. As the Washington Post reported on Wednesday, Ellie's initial diagnosis was grim: most children with Mitochondrial disease don't live through their teenage years. However, Ellie's parents committed themselves to doing everything in their power to help their daughter. They identified experts at the Department of Neurogenetics at the Kennedy Krieger Institute located on the campus of Johns Hopkins University School of Medicine, and set out find a team willing to treat, rather than just diagnose Ellie.

While there are currently no treatments for LBSL, Ellie's story serves a reminder of the importance of charting new paths and pursuing clinical trials that bring hope to patients and their families. Right now there are two phase II trials that have the potential to help those facing Mitochondrial diseases. However, much more remains to be done and it's the power of research, progress and hope that will help ensure that children like Ellie grow up to live bright and healthy futures.

Ellie’s uncle Doug is a part of our extended family here at PhRMA.  Our thoughts and prayers are with the McGinns. Like them, we are hopeful that the combined efforts of her doctors, experts around the world and biopharmaceutical researchers will find a way to help patients with Mitochondrial diseases.  I hope you will take a few minutes to learn more about her story, as well as share your thoughts on what hope in medicine means to you. We look forward to hearing them.


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