Our family moved to Mercer Island, from Seattle, in 2010 for a smaller community and schools because our daughter had really unique special education needs.
Our first child, Nash, hit all the developmental milestones on time, and our second child, Charlotte, didn’t. She was given a lot of tests but remained undiagnosed. Doctors didn’t know why, but agreed that she was behind developmentally, and agreed that whatever she had, was probably genetic. It became clear by the time Charlotte was three, that she was going to need a lifetime of support. We suddenly belonged to a club we never wanted to belong to…raising kids who are different and medically complex.
Five years after we had Charlotte, we decided to have a third child. We wanted to experience the unfolding of human development that is supposed to happen; and give Nash, a typical sibling to have a partner later in life to help out with his sister, Charlotte. So, we rolled the dice and had Cooper. We knew early on he was falling behind developmentally, and in all likelihood, had whatever it is that Charlotte had. Our hearts burst into a thousand pieces, but we picked up those pieces, and we moved on.
For almost 15 years of Charlotte’s life and 10 years of Cooper’s, they were undiagnosed. My first objective was to get them diagnosed. I pounded the pavement until I found the right people at The Undiagnosed Diseases Network (part of the National Institute of Health) and a team at Stanford finally diagnosed them with a gene called FAM177a1. They each inherited two bad copies of the gene, one from my husband and one from me.
Once we understood what happened, a variant on a gene, I realized how fixable this disease is. There are other similar diseases that are being cured. The technology exists. We recognized that we need to focus research and scientists on our disease to get to a fix. Nobody else was going to do this except for the family of an affected child. We are just too rare. So, that’s why I started the foundation, FAM177a1 Research Fund. The mission of the Research Fund is to improve the lives of every patient with the disorder, accelerate research, and develop patient-focused treatments.
Through the foundation, we conducted a drug repurposing initiative, to see if there is a medicine sitting on the shelf right now that would work for this disease! Using donations from our incredibly generous friends and family, we did a drug repurposing screen where we created a model of FAM177a1 disorder in a model organism and, very systematically, gave 1,600 FDA-approved drugs to the model organism to see which ones improved the health in the model. Now we have a short list of drugs that are safe and available that we can use with our kids and see if it also improves the health in patients.
We are working to find and help every family that is affected by this disorder and advocate for the government and individuals to fund rare disease research. There is currently no cure or treatment, but our team of clinicians and researchers thinks that treatment is within reach. Join us! visit curefam.org and social media @ FAM177a1.
“My hope is that we can find or develop potentially life-transforming therapies for my kids in a timeframe that matters, to keep them walking and to stop Cooper’s seizures” Jill