It happens rarely, a human interest disease story that is not driven by a drug company that makes it to the prime time national news. The big challenge is how do you describe the disease, the research, years of fundraising, the impact on the families and patients involved, while still inspiring others?
Last Friday night it happened, a rare disease called Giant Axonal Neuropathy
got a 4 minute spot on the CBS Nightly News
with Dr Jon Lapook.
This fatal disorder has met its match in the families and scientists working on a cure. The angle on the story was a mix of parent activism, world leading science and heart-breaking images of the brave young children affected by the disease and willing to try a gene therapy.
It’s difficult to be impartial when you know the subjects of the news, as I have known Lori Sames since meeting her in 2012. Lori's daughter, 11-year-old Hannah has GAN and lost her independence to the disease but in her own words “she still keeps a smile on her face and her head up’’.
Powerful inspiration for anyone to take in and from someone so young battle a disease day by day. Lori herself has inspired many of us to care about rare diseases like GAN, to write about them and to try to do whatever we can to help the research or fundraising.
Lori and her team at Hannah’s Hope Fund
has raised millions of dollars in 7 years to fund bringing a gene therapy to the clinic with researchers lead by Dr. Steven Gray
at UNC- Chapel Hill and Dr. Carsten Bonnemann
at the NIH.
The first person to receive the gen therapy in this study is Chrissy Grube, a 10-year-old who is the pioneer taking the gene therapy to restore her nerve function in the spinal cord. Her sister Amanda (5 years old) also has the disease and is currently not showing any symptoms.
It is expected that Hannah will be patient number 4 once the researchers are certain the treatment is safe. Stopping or slowing the progression of the disease would be considered a success, but perhaps just as importantly raising awareness of this disease may enable other children to be diagnosed and benefit from this science at a much earlier age.
This exposure on the news did just that — it showed 3 young children, it described the disease in simple terms and presented a balanced viewpoint towards the risk and safety. Certainly the story could be greatly expanded to highlight the many scientists that got from zero to a clinical trial in an amazingly short time. The huge amount of work and effort needed to raise so much money alone could have taken more time.
But the focus on the children and the treatment was important to give others hope that these kinds of rare disease are treatable, with technology, the science and commitment of families and researchers alike. A truly inspiring story that hopefully will continue to show progress for the benefit of the children involved.