When Celebrities Suddenly Care About Rare Diseases
I have followed, in awe, the tireless efforts of families that have rare genetic diseases to raise awareness and funds.
Bake sales and bike races, balls and raffles, exhausting and all-consuming. But these efforts pale when a performer or other famous rich person suddenly and explosively steps up to support such a disease, solely because someone they know has just been diagnosed. As if dozens of families haven’t already been trying to fund clinical trials for years. Last summer’s “ice bucket challenge” was the epitome of the power of viral social media, with the message about ALS lost in the excitement.
When celebrities suddenly care about rare diseases, I wonder what my friends in the rare disease community think. They’re happy, of course, at the attention, yet perhaps a bit unglued by the power of the famous – but maybe afraid to say so.
That happened recently for Batten disease, a devastating group of brain disorders that strike in childhood. And one family isn’t afraid to speak out.
Two years ago and one year ago, DNA Science heard from Laura King Edwards, who has been running races in all 50 states in honor of her 16-year-old sister Taylor, who has Batten disease. This week, DNA Science borrows the blog posts of Laura and her mother Sharon King, responding to last week’s avalanche of concern for the disease that is taking Taylor away. Laura blogs at Write the Happy Ending and Sharon at Taylor’s Tale.
LAURA KING EDWARDS: #CureBatten Forever
Celebrities like Mark Wahlberg, Jennifer Garner and Megan Fox are rallying to save the lives of two young girls diagnosed with a rare form of Batten disease. The girls, Charlotte and Gwenyth Gray, are the daughters of Hollywood producer Gordon Gray. Gray is known for movies like “The Rookie,” “Miracle” and “Million Dollar Arm.”
Now he’s trying to raise $10 million to save his kids.
Batten disease has never been so squarely in the public eye. The Grays have A-list connections, and those connections have helped land the family’s story on CNN Health, Cosmopolitan, Good Morning America, People, Time, The Today Show, US Weekly and many others.
Did I mention all of that happened in 24 hours?
On July 24, my family will have been fighting Batten disease for nine long years. I’m proud of what Taylor’s Tale has accomplished in that time.
We’ve been a top funder worldwide for infantile Batten disease research, and nearly every dollar has been donated by an individual touched by our story. We’ve effectively increased awareness of Batten disease within and outside Charlotte. We’ve become rare disease advocates and played an important role in rare disease legislation, including a new bill in North Carolina that we initiated and which passed unanimously in the N.C. House this spring.
In those nine long years, Batten disease has stolen almost everything from my little sister. Everything, that is, but her courage.
Like my mom, it is difficult for me to feel excited about the Grays’ story. I knew and loved Taylor when she was healthy, and so it’s easy for me to see my sister in the Grays’ video that shows the girls laughing and smiling and playing. I read all I needed to know about the symptoms of Batten disease online in the moments after my mother called to inform me of Taylor’s diagnosis. But those words never really sank in until they became our reality – until we were forced to live them.
Every new diagnosis is a tragedy, regardless of how much awareness or money it brings. I hate this disease with every fiber in my body and I hate watching it shatter the worlds of new families, as it shattered ours.
The Grays can’t do anything about the fact that Batten disease is in their genes. What they can do is FIGHT it. What they can do is believe. I admire them for doing exactly that.
Charlotte and Gwenyth have an extremely rare form of Batten disease, CLN6, that affects fewer than 10 kids in the world. It is a variant form of late infantile Batten disease (CLN stands for “neuronal ceroid lipofuscinosis.”) Batten as a whole affects thousands. The diseases are genetically distinct. Infantile Batten disease – Taylor’s form – is CLN1.
While the efforts of the Charlotte and Gwenyth Gray Foundation to cure CLN6 will certainly help all of us indirectly, we still need to find treatments for ALL forms of Batten disease and save thousands of children worldwide – the children of today and the future Charlottes, Gwenyths and Taylors.
If the Grays raise their $10 million, it won’t save the rest of us. Even if things are learned that can move the science forward for other forms, it won’t pay for that work. What they may do is prove that answers are possible, if funding exists.
My challenge to you, if you’ve been touched by Taylor’s story or the story of Charlotte and Gwenyth Gray, is to stick with the Batten community. Regardless of how long celebrities continue to tweet photos and pleas for $1 donations, we’ll need you for the road ahead, and the science still has to work.
My heart goes out to the Grays and their girls. I’ll be pulling for them!
SHARON KING: AWARENESS, BUT AT WHAT COST?
A question mark popped up in my inbox this morning, a friend wondering why neither Taylor’s Tale nor a member of Taylor’s family had responded to the recent release of a website and video from the family of Charlotte and Gwenyth Gray, two young sisters recently diagnosed with CLN6, a form of Batten Disease. The story flooded my Facebook feed yesterday.
Here’s the easy answer: I’m still “processing it.”
I cried watching the video. Change the faces, and it could be my family. The beautiful children, shock, fear…hope. It’s life repeating itself. It’s something that’s happened too many times since Taylor’s diagnosis.
What makes the Gray family’s story different is that they have “connections” that can make a huge difference in raising awareness and the all-important funding to get to hope. We’ve been working for nine long years, spreading the word and providing whatever funding we could raise to propel research forward. I daresay the Grays will long surpass us in nine short days.
How often have many of us in the Batten community thought, “If we could capture the media’s attention in a big way, we could move even more quickly to find treatments…and one day, a cure?” Now, one family’s high-profile celebrity connections have garnered valuable media attention.
But there is no joy in having the Grays join our ranks. Their story has ignited awareness of Batten disease…but at what cost? I would rather the girls be healthy. As grateful as I am for what they and their friends are doing, my heart hurts because another family…more precious children…are battling the monster that is Batten disease. And that reality is not easy to process.
Kudos to the Grays and the many other brave families we’ve met along the way for taking a stand – for their unwillingness to accept “no cure.” We took that stand the day Taylor was diagnosed with Batten disease, and we’ve never backed down. We still believe. Working together, we WILL win this fight.
Staying power is important. As a community, how can we capture this momentum for the long haul, and for all of the kids suffering from the various forms of Batten disease? How can we make this story matter to the world tomorrow? The challenge now will be for the Charlotte and Gwenyth Gray Foundation, Taylor’s Tale, and ALL organizations fighting Batten disease and other rare disorders to:
• Capitalize on the awareness created by Charlotte and Gwenyth’s story
• Transform new donors into repeat donors, advocates and storytellers for the cause
• Support the work funded by the influx of new donations to ensure it translates into a treatment
$10 million is an enormous amount of money, and the work will certainly inform progress in other forms of the disease. Therein lies our tagline, “A victory for one is a victory for all.”
Ten million dollars won’t be enough, however, to reach clinical trials for all forms of Batten disease. Taylor’s Tale and other related groups will continue to need additional funding and your support to build a better future for children like the Grays’ girls, Taylor and so many others.
(Taylor’s Tale is funding gene therapy research for infantile Batten disease at the Gene Therapy Center at the University of North Carolina. Thanks to Laura for sharing the family’s photos.)
Ricki,
Thank you for sharing our story again and for your tireless support of the rare disease community. While it won’t come easily, we believe in a better future for people like Charlotte, Gwenyth and Taylor. By working together, we can spread the word, raise much-needed research dollars and bring about legislative change for the rare disease community. Until we have answers, I’ll never stop running, writing or fighting!
Laura
Any time, Laura. Here’s something to really make us crazy — I just got a news release about the importance of developing the “little pink pill” for enhancing the female sex drive. As if I’d waste any time on that story … How can research dollars go to develop something like that when children are dying from genetic diseases?
[…] I have followed, in awe, the tireless efforts of families that have rare genetic diseases to raise awareness and funds. Bake sales and bike races, balls and raffles, exhausting and all-consuming. But these efforts pale when a performer or other … Continue reading » […]
That doesn’t shock me. There is so much waste in our system. Your comment reminded me of a blog post I wrote three years ago after reading an article about seven studies funded with federal tax dollars to the tune of about $2.3 million – for everything from an online dating study to video game preservation. It makes me crazy. Here’s the post: http://writethehappyending.com/2012/07/17/the-price-of-life/
On June 26th, it will be 3 years since we joined the rare disease community when our daughter got diagnosed with MLD. We have worked for the last two years to help other families when our daughter could not be saved. I am a concerned about the Greys, who are still in the diagnosis shock, and whether they understand the limits of what money can do. If, tomorrow, there was a human trial for Batten disease, would both girls even be eligible for such treatment? I worry they are funding people rather than the best science. My friend Liz Scott has been brilliant about making their money work to advance the entire field of cancer and not focusing on the disease her daughter died from, neuroblastoma. The fact is that there are some rare diseases treatments in human trials that with expanded newborn screening (ALD and the bubble boy disease SCID) could be pushed over the finishing line so 10 million dollars for these disease would push us over the finishing line. It seems to me that the best hope for the future comes in realizing that we need to increase funding and awareness and that these precious dollars need to be used wisely. I wish we had more opportunities in the US to support rare dseases as a group rather than people affected by 9000 rare diseases competing against one another. In Italy, there is a national telethon each Christmas to fund all gene therapy projects, not just a single disease. Our foundation’s focus has always been broad with orphaned neurological diseases and the more than 60 sorts of leukodystrophies. Our first research gift was to help doctors create a database and identify unspecified leukodystrophies to figure out their genetic causes. It was not as sexy as finding a cure, but families facing diseases with no name need help too. Of course, our foundation is particularly interested in MLD but we also help causes that directly benefit other diseases all the time. It has to be bigger than our family.
Yes! I agree, a lot of us have put our heart and soul into creating awareness. With the power that this family has is a helpful thing. But it will not help our children at this point. This family (in my eyes) are in as much heartache as all of us… There children will never go with out any of the medical necessity as most of us encounter. I hope that we all don’t get caught up in the “awww” that who these people are and forget that they are just as much as batten family as we all are or vise versa that this family doesn’t associate with us because of the extra power and fame they have… I am sadden for them as they have two children with this nasty disease, one is enough. Taylor’s tale good luck to you all. Let’s just keep our head up and keep pushing for what we all have been pushing for.
Thanks for writing Tracee!
Thanks so much Maria. I wish the answer was as simple as throwing as much money as possible at a problem. I agree great care must be taken to spend the funds wisely, to do the very best science. And look to the future when gene therapies, whatever guise they ultimately take, teamed with expanded newborn screening, perhaps to the genome level, will make possible treatments, maybe even cures, so soon that children never even remember them.
I was struck by the following passage:
Charlotte and Gwenyth have an extremely rare form of Batten disease, CLN6, that affects fewer than 10 kids in the world. … Batten as a whole affects thousands. The diseases are genetically distinct. Infantile Batten disease – Taylor’s form – is CLN1
It almost seems to imply that the infusion of philanthropy into CLN6 may siphon off the research energy from the more common forms of Batten? In a zero-sum game of sorts? Can’t we think, instead, of the commonalities of the different forms of the disease, and of the possible cross-fertilization of research efforts? Delivering gene therapy to the neurons / refolding misfolded enzymes / possibly discovering the yet unknown ways to dissipate the lipid clogs?
It seems almost certain that Taylor’s specific subtype of the disease is quite rare, too. Indeed, the list of known CLN1 mutations is long, and most of them seem to cause far more severe deficiency of PPT1 than the selfless North Carolina family is facing. Their choice to go “general” after all related forms of Batten’s rather than their own peculiar subtype is partly driven by necessity, by the need to get hundreds of parents and their supporters together?
(I couldn’t figure out the specific nature of the genetic mutations from their website, but the write-up of the supported grants seems to indicate that one of them is R151X, a mutation found in approx. 1/1500 people of European ancestry. In comparison, R122W, the scourge of Finland, is also reported in approx. 1/1000 Europeans without Finnish ancestry, and one could imagine that these two most common causes of CLN1 may also have some common and some unique ways to mitigate them?)
Dmitry,
Thanks for reading and for your comment. To clarify, identifying commonalities between all of the NCLs – and opportunities for synergies on the research front – has always been a priority for us. But with that said, it’s dangerous to depend too much on lessons learned from working on one form of the disease to apply to other forms. We’ve learned that even CLN1 and CLN2 – which are genetically very similar – aren’t always an even exchange when it comes to developing a viable treatment. Throw CLN3 (juvenile Batten disease) into the mix, and suddenly you have a whole different ballgame. I wish we could fix all of these disorders in one fell swoop. Unfortunately, while lessons learned from one should certainly inform others, we have to tackle and conquer each one independently. So, our concern is not that support for CLN6 will “siphon off energy” previously put into other forms. Our concern is that many will mistakenly believe CLN6 is a catch-all for Batten disease, and if we fix CLN6, we’ll fix all of them.
To address your question about the rarity of Taylor’s form, Taylor is indeed a rarity due to her later age of onset, but she is not different genetically speaking (at least in Batten disease terms). Taylor has INCL (CLN1). This is not a variant form. But while CLN6 presents much like CLN2 (late infantile), it is genetically distinct from CLN2.
We have always directed our funding toward infantile Batten disease (INCL/CLN1) research. However, we realized early on that to achieve our goals – or for anyone in the rare disease community to do so – the conversation had to be broader. We fund INCL research, but we’re fierce advocates for ALL 350 million people fighting one of 7,000 rare diseases. Sometimes it makes sense to be synergistic, while other times it makes sense to stay laser-focused. But we absolutely believe that a victory for one is a victory for all.