I published my first blog post in January 2007, six months after my sister’s infantile Batten disease diagnosis. Since then, I’ve written 171,147 words (good for about 330 single-spaced pages in Microsoft Word, in case you wanted to know). 

The following post appeared on my old blog, Transmissions, on October 4, 2007. I was 25 and still pretty new at being a wife, health care communications pro and rare disease advocate. Taylor’s Tale had one fundraiser under its belt. My sister, Taylor, was 9. She ran, skipped, jumped, sang, laughed, played and went to school five days a week. She couldn’t see too well, but she wasn’t blind. She didn’t have seizures.

In 2007, I knew more about Batten disease than most doctors. Looking back now, I realize I still didn’t know that much about Batten disease compared to what I know today. But I think I got what’s important. And I’m pretty sure that’s the reason I’m still standing.

Almost

October 4, 2007

Have you ever gotten so close to something you could almost taste it, only to then lose it? Something really important–something at which you may never have another chance?

How do you get over that kind of disappointment? I think I’m finally learning that we just have to put our heads down, clench our jaws and continue on our search for answers more fervently than before. Each lost opportunity or dose of bad news wears on us, but it also steels us for what’s still to come. What kind of world is it where you get through the days mostly because you know they’re better than what you’ll have in the future? How utterly horrific does a disease have to be to have that kind of an effect on an otherwise beautiful life, a life full of so much potential?

My expectations aren’t a signal of lost hope or lowered spirits. They are, if you will, my acceptance of reality. I know that it takes time to do the kind of research it will take to save Taylor and, ultimately, other children with Batten disease. “Time” may be one year or five years, but I don’t know how many years T has. I know that it takes money. “Money” may be $250,000, or it may be millions. We have no way of knowing exactly how much it will take. Batten disease is rare–I haven’t lost sight of that fact–but I also haven’t lost my belief in the priceless nature of the life of even a single child.

I have hope, because I know how close we could be. Nothing–not this website, not an event, not even the funds contributed by our compassionate donors–can guarantee that we’ll beat this, but in the absence of those things, children will only continue to die. Our donors have made an incredible difference in the eight short months since Chapter One, but we have to keep it going–and that’s on us as much or more than anyone else. That’s on me to continue to pour my heart out here for the entire world to see and on our committee to sustain the energy we’ve shown this year. It’s on our family to be there for T.

The cure won’t be found tomorrow, but it’s out there. And every day we don’t further the research is another day for this disease to eat up the bodies and minds of these kids. It’s like a parasite, and it works at different speeds depending on the child. Some children lose this battle very quickly. I want us to have the best chance to save all of them.

I know how bad this disease can get, and will get if we don’t stop it, because I saw it in Rochester in July. I saw it in those children, and I saw it in the hearts and faces of their parents. My heart breaks for them. My heart breaks for T. We are far too late to save many of those children. I have met children who likely will not be with their parents next year. Who will never get their first locker at school. Who will never get their drivers’ licenses and will never experience their first kiss. Life is about milestones and all of the things that happen in between. Many of these children reach important milestones, like taking their first step or learning how to read, only to have them taken away from them. Before Batten disease is done with them, they won’t even have the memories of what they could once do, or who they could have become. I hate this disease and everything about it. People age–that’s how life works–and as they age, they find that they can’t do things they were once capable of doing. I’m only 25, and I can’t play a soccer game anymore without waking up in pain the next morning. I used to play four, even five games in a weekend without missing a step. But I still have the memories. And as my life changes and things fall away, they are replaced by new things that are just as, or more, rewarding. I miss being in college, but I love being married. T can’t ride her bike anymore, but what’s there to fall in its place? She can’t play on a soccer team like her sister, and she had to give up dancing when her vision kept getting worse and worse, and what does she get in return? I guess what’s important is for us to realize the unique beauty of the things T is able to experience these days, like horseback riding and listening to her favorite music.

My love for her is so strong, and I hope she knows that. I wonder if she knows how I cry inside for her on all of my days, even when I’m happy and perhaps even more so then, because in those moments, I want to hold on tight and never let go. I hope she knows how much of a miracle her presence is and always was, and how much of an impact her strength has had and will continue to have on so many people. I hope she knows that because of her, with or without Batten disease, I am a better person.

I met Dr. Steven Gray at a Greensboro restaurant in January 2011, several years after he began fighting an ultra-rare disease called giant axonal neuropathy (GAN) in the lab of his mentor and one of the world’s leading gene therapy experts, Dr. Jude Samulski, at the University of North Carolina Gene Therapy Center. Steve signed on after meeting Hannah, the four-year-old daughter of Lori and Matt Sames and the inspiration for Hannah’s Hope Fund, the charity that funded his work.

Two years after I met Steve for the first time, Taylor’s Tale joined an international coalition of non-profit organizations to fund a two-year Batten disease study modeled after Steve’s work on GAN. When I visited the lab at UNC, I noticed the photos of children that decorated Steve’s office door and many of the doors lining the hallway. Steve explained that seeing the faces of the kids stricken by the diseases he and his lab mates study each day provides a constant source of motivation. You see, 80 percent of rare diseases are genetic in origin, so a gene therapy lab is no stranger to the fight against rare disease. Half of the 350 million people affected by a rare disease are children, and many rare diseases are fatal. You could say that Steve and his coworkers are in the business of saving kids whose families have been told they don’t have any hope. And it doesn’t get any more emotional than that.

The fight against rare disease is a bitch, and I should know: I pull late nights in my second job as advocate and storyteller because I’m watching my little sister lose her battle with infantile Batten disease, and I refuse to let families like mine fight this battle forever.

Largely because of people like Steve, though, I believe. And according to a recent article featuring Steve and his work in Nature, one of the world’s leading scientific journals, my optimism is well-founded:

• Thanks in large part to the determination of patient organizations like Taylor’s Tale, rare disease research is hotter than ever before. Generous gifts have allowed prestigious universities to create institutes focused on rare disease.
• Government initiatives such as the Therapeutics for Rare and Neglected Diseases program at the NIH have been developed to promote rare disease research. Taylor’s Tale has been part of advancing important rare disease legislation in U.S. Congress.
• Drug companies that used to run screaming from tiny diseases like Batten disease have learned from success stories like Genzyme, which built its entire foundation on developing drugs for orphan diseases. One-third of the 39 drugs approved by the FDA in 2012 were for orphan diseases, and worldwide, the market for orphan drugs is expected to skyrocket from $86 billion in 2012 to $112 billion in 2017. Large drug companies like GlaxoSmithKline (which has an office in North Carolina’s Research Triangle Park, three hours from my hometown) now have dedicated programs for rare diseases. 
  
• There are opportunities for overlap with more common diseases, e.g. cystic fibrosis with chronic obstructive pulmonary disease.

Six years ago, Hannah Sames’ parents asked Steve Gray to find an answer for GAN, a horrible disease that affects fewer than 100 children worldwide. At the time, the odds seemed insurmountable. But a clinical trial for GAN is expected to begin this spring. A whole global community contributed to that effort. And perhaps one day soon, because families believed and scientists showed up at the lab each day willing to work a little harder because of the faces of kids on their hallway doors, kids like Hannah and Taylor won’t lose their lives to an orphan disease.

Read the Nature article

Note: The article “Disease research: rare insights,” originally published in the journal “Nature,” was the source for much of the content shared in this post.