The Launch of a Trial, and the Light at the End of the Tunnel

Published: February 15, 2015  ~   0
By Laura Edwards

Nearly five years ago, when my sister could still sing and talk and walk and eat ice cream cones on hot summer days, my mother met Steve Gray, a young investigator from the University of North Carolina Gene Therapy Center, at a conference in Bethesda. Since 2008 he’d been working on giant axonal neuropathy (GAN), an ultra-rare, fatal childhood disease that causes progressive nerve death.

A few months later, we drove to Greensboro to have dinner with him. We weren’t ready to take the leap then, but Mom believed in Steve since the first time she heard him speak about his effort to save children from a monster that turned them into quadriplegics unable to eat or breathe on their own.  When I sat across from Steve in our booth that night, I believed in him, too. continue reading →

The World’s Third-Most Populous Nation

Published: August 8, 2013  ~   1
By Laura Edwards

Thirty million Americans have a rare disease. Globally, if all of the people affected by a rare disease lived in one country, they would make up the world’s third-most populous nation. And according to the National Institutes of Health, half of all people with a rare disease are children.

These are serious numbers. Rare diseases are real. They don’t just strike anonymous people you read about in magazines or see on TV. They strike your own family members and friends. Ten percent of Americans have a rare disease. If you have 30 classmates, three of them have a rare disease. If you work at a company with 1,000 employees, 100 of them suffer from a rare disease.

I have one sister – out of all the people in the world, my closest genetic match. I don’t have a rare disease. But Taylor does. She has a fatal disease without a known cure or even a single FDA-approved drug treatment.

It’s tough to describe the devastation of Batten disease in a paragraph. It causes blindness and seizures. Kids like Taylor lose their speech and their ability to walk. They end up with feeding tubes. We call Batten disease a “brain” disease, but it ravages the whole body. Calling it a brain disease is like letting it off easy.

But for now, all we can do is throw pebbles at the monster wreaking havoc on my sister’s body. She takes a drug to help prevent seizures, plus a million pills off-label. She does physical therapy like a champ. And Batten disease marches on.

Taylor pool therapy

Taylor’s closest to my heart, but her story’s far from unique. When it comes to rare diseases, ineffective and/or temporary solutions for the symptoms are the norm, not the exception. This is an expensive approach that offers little quality of life or long-term hope for the millions of people like my sister. It is a public health problem, and we can all be part of the answer.

Initiatives like the Breakthrough Therapy Designation and Accelerated Approval for Rare Diseases can help pave the way to a better future for the rare disease community. At a recent briefing about FDA approval pathways, a cystic fibrosis patient talked about how a drug called Kalydeco, one of the first Breakthrough Therapies to market, has changed his life. The patient said that the drug, which treats the underlying effect of the disease and not just the symptoms, “profoundly changed his life because for the first time, he felt that he could look forward to becoming a grandparent one day, whereas the average lifespan for CF sufferers is 37.” (FasterCures, Aug. 6, 2013) 

I’m reading “The Forever Fix,” Ricki Lewis’ book about gene therapy and the world of patients exploring the frontiers of medicine – our world. In the book, Corey Haas, born with a rare eye disease called Leber congenital amaurosis (LCA), receives gene therapy and sees bright sunlight and fireflies for the first time.

Back when Taylor could still share her hopes and dreams with me, she told me she wanted to drive a pink convertible like Sharpay from “High School Musical” and have a dog and go to college and get married.

I don’t know what tomorrow holds for my sister. But I know that I want to give people like her the opportunity to look forward to milestones. I want to give them the miracles of life, both great and small. I want them to be able to watch the sunrise and count the fireflies on a warm summer night.

Taylor’s Tale is a leader in the fight against rare diseases. Send us a note to ask how you can get involved.

Today, We Win

Published: June 12, 2013  ~   1
By Laura Edwards

Today, I tuned into a live webcast of the Recombinant DNA Advisory Committee (RAC) ‘s discussion of gene therapy for giant axonal neuropathy (GAN) on the NIH campus in Washington. The RAC meeting was a big step in the approval process for the GAN work funded by our friends at Hannah’s Hope Fund to make it to human clinical trial later this year; it’s also very important for the Batten disease work Taylor’s Tale is co-funding at the University of North Carolina Gene Therapy Center, because our project is based on the GAN studies.

On that webcast, I watched two amazing scientists explain the science behind their work, answer tough questions and make a strong case for moving forward. I’ve met a lot of experts in the near-seven years since we started this fight, but I know without a doubt that people with GAN and infantile and late infantile Batten disease have two of the best working for them at UNC. Dr . Jude Samulski and Dr. Steven Gray are fantastic scientists, and they understand the world of families like mine. Kids like Hannah and Taylor are in their minds when they’re in the lab, and I think that’s part of what drives them to be so good at what they do.

I also watched two women who are incredible advocates, fundraisers and, yes – mothers – deliver speeches I will never forget. I’ve met a lot of mothers, but I don’t think a rare disease has ever met a tougher opponent than Lori Sames or Sharon King. Though my mom and Lori, Hannah’s mom and founder of Hannah’s Hope Fund, are different in many ways, they are similar in that they looked their child’s rare disease with no known treatment in the face and said, “You will NOT defeat me. I will NOT sit back and let you take my child without a fight.” They refused to “live everyday with the knowledge that the consequence of doing nothing is sure and certain death.” And because of the choice they made, people like Hannah and Taylor have a light at the end of the tunnel.

…live everyday with the knowledge that the consequence of doing nothing is sure and certain death.

I feel honored and privileged to know and work with all of these amazing people. Big things are in store because of their wisdom, dedication and courage. I am saddened by the reality of my own sister’s decline but inspired by the possibilities for the future and our potential to help build a better world for people with genetic diseases. Today, the RAC committee granted our friends approval to march forward in their quest to launch the first human clinical trial for GAN later this year. You can be sure that we’ll be working to make certain Batten disease is not far behind.

I believe!

The Fight for a Cure: Another Year of Groundbreaking Research

Published: July 19, 2009  ~   0
By Laura Edwards

Last night in St. Louis, Taylor’s Tale helped make it possible to award one-year grants to four talented research teams from the University of Texas Southwestern at Dallas (led by Sandra Hofmann, MD, PhD, whose work we’ve funded for the past two years), Washington University in St. Louis, the University of Missouri and the National Institutes of Health.

These projects will help us move closer to a cure for children with infantile NCL, the form of Batten disease from which Taylor suffers.
On behalf of Taylor’s Tale, I’d like to thank our funding partners in these endeavors: Hayden’s Batten Disease Foundation Inc. and the Batten Disease Support and Research Association (BDSRA) North American and Australian chapters.
I also want to thank all of our donors, who’ve given me the gift of hope and a very real belief in our ability to write the happy ending for which we’ve been desperately searching since July 24, 2006 – the day of T’s diagnosis. That day, my family cried in each other’s arms, but before the tears dried, we’d gathered the resolve to fight for a little girl who deserves nothing less. We couldn’t do it without you; love to you all.