In 2007, we were living an ordinary life outside of Chicago. We had three children: Noah and fraternal twin girls, Laine & Emily. Life was good, then things began to change.
Noah began life as a normal child. He talked, giggled, loved watching trains, wrestling with Daddy, and getting into a little mischief. When Noah was about three years old, he began having tremors and forgetting words and phrases he once mastered. Months later, he had his first seizure, which began our 15 month diagnostic odyssey, visiting six different neurology centers around the country where we often heard, “take your child home-enjoy your remaining time. Needless to say, this did not sit well with us.
In 2009, we received an answer, but one no parent wants to hear. Our child was diagnosed with Late Infantile Neronal Ceroid Lipofuscinosis, or Batten disease. This specific type of Batten disease is caused by a mutated CLN2 gene that prevents a waste clearing enzyme from being produced in the body. Over time, the waste accumulates in the brain and causes catastrophic loss of brain volume. We were devastated to learn that Noah would have increased seizures, become blind, bedridden, tube fed, unable to communicate, and eventually we would lose him. There is no treatment or cure and currently Batten disease is always fatal. The illustration I often given people to describe Batten disease is to image a child suffering from the symptoms of Alzheimer’s disease, ALS, Huntington’s disease, and Parkinson’s disease.
Similar to Noah, Laine and Emily began their lives as healthy little girls, successfully progressing through developmental milestones. They were always a pair, whether coloring pictures, twirling in ballet class, snuggling during naps, or playing with princess dresses. As we learned more about Batten disease, we decided to test the girls for the disease. The girls had no symptoms when they were tested at age three. On August 17, 2009, our world shattered again as we learned that Laine also had Batten disease.
Laine was symptom-free when she was diagnosed. However, like horrifying clockwork, she had her first two seizures within the first month of her diagnosis. Emily found her during her first seizure and said, “Lainey has the shakes.” The look in her little eyes told us that Emily already knew that her sister was sick.
In 2009, we formed Noah’s Hope to raise research funds for Batten disease. We became very active with the Batten Disease Support & Research Association. (BDSRA), where I currently serve as Vice President of the Board of Directors. The BDSRA is the world’s largest organization dedicated to support of families affected by the 12 different forms of Batten disease and research to one day find a treatment or cure. Through active engagement with our BDSRA community and our collaboration with sister organizations throughout the world, we have a very cohesive and worldwide patient advocacy organization that I am proud to be a part of.
With these two organizations, we have raised the bar on Batten research. We have funded projects to expand and create new animal colonies and models, developed registries and natural histories, funded biomarker discovery, and more. We also co-funded mid-stage academic work which played a role in bringing the first enzyme replacement therapy clinical trials to CLN2 Batten disease.
Equally important is our work in the RARE community. We contacted rare advocacy groups, including Global Genes, Faster Cures, Genetic Alliance the EveryLife Foundation, and NORD, who were working on common issues within the rare disease community. It became clear that this collective approach was more impactful as we all faced common problems. We became regulars on conference calls and webinars learning about issues that affected us all. I have traveled to the DC area dozens of times for advocacy efforts. Networking with others and learning from their successes and failures has been most beneficial to me as I continue to learn how to drive Noah’s Hope, BDSRA, and the rare disease community forward.
Noah (11 years) and Laine (10 years) now need 100 percent care and we feel blessed with each day we have them with us, as they have taught us to live a more purposeful life. I want to thank the rare disease community for all of your efforts surrounding Rare Disease Day 2016. Together we can make a difference.
Editor’s Note: Throughout the week of Rare Disease Day 2016, BIO will be profiling stories of those affected by rare diseases, shedding light on these diseases and the families impacted by them. America’s Biopharmaceutical companies are working on treatments of these and many other diseases. For more information visit http://timeisprecious.life.