We lost two children in less than two years to CLN2 Batten disease; an extremely rare genetic disease. Please help us to stop this from happening to other children. CLN2 Batten disease has historically been completely debilitating, and terminal by age 12. We are working to develop therapies that delay symptoms, to give the gift of childhood back to children with Batten disease.
Noah’s Steps Faltered
Our son Noah developed normally until he was three, climbing playground equipment, playing tag in our backyard, and devouring chocolate chip cookies. Shortly after his third birthday, he began exhibiting a speech delay and having tremors, and soon experienced his first seizure.
After more than 16 painful months of consulting with doctors around the country and running every test imaginable, Noah was finally diagnosed with CLN2 Batten disease.
Although the disease is genetic, we had never heard of it. As we began to research, our hearts were shattered. While our little boy still looked and acted normally, we learned that CLN2 Batten disease would soon steal away his ability to walk and talk, and would eventually take his life by the age of 12.
For a little guy, Noah sure loved his steak. Most kids would want pizza, but not Noah. When he was little he came running when his dad lifted a nice juicy filet mignon sizzling off the grill.
Noah had the best laugh. Once when we were watching Finding Nemo, he started laughing every time I said the word “boat.” He thought his private joke was hysterical. When he caught the giggles like that, his grin lit up his face, his cheeks flushed pink, and his eyes shone.
Noah squealed with joy skiing down the mountain in Keystone, CO, during an adapted ski program. While it was terrifying for me, it was absolutely exhilarating for him as the adaptive team helped him swoosh through the powdery snow. He was in his element.
Noah always reminded me of Max, from the book Where the Wild Things Are. He was fearless, and definitely the king of all the wild things. If he could, he would have run around yelling, “Let the wild rumpus start!” just like Max. And we would have copied their reply, “Please don’t go, we’ll eat you up we love you so!”
Noah’s face shone when he clambered into the driver seat of a big green tractor on a friend’s farm. Afterward, we all gathered for lunch and as soon as the farmer was done praying, Noah said nice and loud, “AMEN”! That moment was a beautiful image of hope.
“Turn here, Uncle Michael, go back to the mountains!” Noah exclaimed when he was 3, pointing at the mountains as we left Estes Park, CO.
When Noah’s “Hoppa” turned sixty-two, Noah wrote his own special birthday song, “Happy to you!”. It was such a special song for Hoppa, and Noah continued to sing “Happy to you” until Batten took away his voice.
Waiting for Laine’s Diagnosis
Our daughter Laine still had no symptoms when she and her twin sister Emily were tested for CLN2 Batten disease at age three, shortly after Noah was diagnosed. The first test showed that Emily did not have CLN2 Batten disease, but that Laine’s test results were inconclusive. As we waited several more weeks for more tests to be run and rerun, our family and friends prayed with us for a miracle.
Sadly, it did not come to be.
Our world shattered again when we learned that Laine had CLN2 Batten disease. It was August 17, 2009, exactly five months to the day when Noah was diagnosed.
Laine specialized in nose-to-nose “Eskimo” kisses when she was five and loved hearing stories of adventures in faraway lands.
When Laine was 3, she would ask endless silly questions of anyone who walked in the door. She had the sweetest little voice that you couldn’t help but answer.
When Laine was 4, she would occasionally decide it was time to play in the middle of the night. And sometimes, we just went with it. Often she giggled and rolled around on the bed for an hour, laughing harder every time she ran into one of us…starting our days by 4 a.m.
When I met Laine at age 8, she never spoke to me with words, but spoke volumes to me with her spirit and determination. She experienced more in her 12 years than most people do in 50 years. Especially when it comes to love. She gave and received ever so much love.
Sweet Laine–not sure there is a more beautiful girl I have ever known. I remember her and Emily as toddlers with rosy cheeks, long hair, and sweet spirits as they danced!
Lainey loved babies! “Tickle, tickle, tickle,” she smiled while tickling her 8-week-old baby cousin’s toes.
Laine was passionate for all things princess, and was happiest when she played dress up with her many princess dresses. But her favorite moment was meeting Cinderella in Disney World.
Our World Was Shattered
For the next nine years, we lived in a constant state of caregiving, with wheelchairs, feeding tubes, suction machines, oxygen, and eventually constant around-the-clock care in our home.
We watched our babies run, then stumble, then lose all ability to walk. We hugged them as their clear speech turned to stuttering, then to silence. We sought every medical option available as their nimble little bodies became immobile, then wracked with constant seizures.
As we worked and provided constant care to Noah and Laine, we stayed up nights trying to create new options for our children, and other children with Batten disease and other rare diseases.
We Advocated for Policy Change
We learned that drug development for rare diseases like CLN2 Batten is extremely challenging due to the small size of the patient population. So we advocated for rare diseases, spoke to members of Congress, and became very active in educating lawmakers about ways to ease the path for developing rare disease products. As a result, we helped to change the federal law on a few key issues for the rare disease community.
We Raised Funds
We learned that CLN2 Batten disease typically receives less than $700,000 per year in federal research funding. This is because it is believed that fewer than 2,000 children worldwide have CLN2 Batten disease. So we worked with our community to create fundraisers to augment these research dollars. As a result, with Hope 4 Bridget we helped to raise more than $1.5 million for research.
We Became Experts on Research
We learned that there were multiple therapeutic approaches to CLN2 Batten disease, so we poured ourselves into the science behind these projects to identify and fund those with the fastest potential for efficacy.
As a result of basic research funded by Noah’s Hope and other partners, and through continued engagement with our family, BioMarin Pharmaceuticals, introduced the first drug therapy that could delay the onset of symptoms for CLN2 Batten disease in 2017, just one year before Laine passed away.
We Raised Public Awareness
We learned that CLN2 Batten disease and other rare diseases are relatively unknown, so we invested precious time to raise awareness, and shared our story so that CLN2 Batten disease could receive more support.
But We Could Not
Be Fast Enough
And with breaking hearts, we slowly learned the devastating lesson that all of our efforts would have no impact on our own children.
Noah passed away in March 2016 a few weeks shy of his 12th birthday, and Laine passed away in March 2018 at age 12.
Our Family Remains Focused on Our Mission
Laine’s twin sister continues to thrive and grow, singing, writing musicals, and excelling at school. We were also blessed with a healthy younger daughter, who was born a year before Noah died. She shares a special relationship with her and lights up the room with her giggles, reminding us every day of sweet Noah and Laine.
We created Noah’s Hope to support research, raise funds, and inform the community before we knew that Laine would also fight this terrible disease. Now we pour ourselves into Noah’s Hope in memory of Noah and Laine, for our extended Batten and rare disease family around the world, and for the sisters who watched their siblings travel this terrible path. We partnered with Hope 4 Bridget in 2014 to extend our efforts even further to help make a positive impact for the Batten and rare disease communities.
We Need Your Help
Although Noah and Laine are no longer alive, we believe fervently in the work we have done for CLN2 Batten disease, and the work that is still needed. We are committed to continuing our efforts to advocate, research, raise funds, and increase public awareness about CLN2 Batten disease in their memory.
Please join us as we work to give the gift of childhood back to children with Batten disease.