Meet Lisa! - Stamford Moms

Lisa with her family

How many kids do you have, and what are their ages?
I have three kids: Justin, who is 32; Rachel, who is 30; and Emily, who is 27. I also have a daughter-in-law, Danielle, and an 18-month-old grandson, Owen.

Tell us a little about your daughter Emily’s diagnosis with CACNA1A in 2015.
Sure – Emily was born in 1997, and my husband and I quickly noticed that she wasn’t developing like my older two children. For example, at six months old, she had the tone of a newborn. She had her first seizure at eight months old. We saw so many neurologists and geneticists over the years. Still, no one could tell us the reason for her developmental delays, epilepsy, intellectual disability, eye movement disorder, communication issues, etc. So, we soldiered on.

Emily went to the Greenwich Public Schools, Villa Maria School in Stamford, Winston Prep in Norwalk, and then to a post-secondary program in Cambridge, the Threshold Program at Lesley University. We assumed we’d never know the reasons for her struggles.

However, when Emily was 20 years old, I read an article about the Human Genome Project and promptly called our neurologist, asking for additional genetic testing. At that point, Whole Exome Sequencing had become a standard of care – 8 months later, we had our answer!

Lisa and her daughter, Emily

What is CACNA1A?
CACNA1A is a rare neurodevelopmental disorder caused by a mutation on the CACNA1A gene, which plays a vital role in how neurons communicate in the brain. This change in the gene results in a spectrum of neurological symptoms, including autism, speech and language disorders, intellectual disability, epilepsy, and ataxia, a balance and coordination disorder. Emily’s mutation is de novo, which means it was a fluke, as my husband and I are not carrying the variant.

How did her diagnosis inspire you to start the CACNA1A Foundation?
When we received the diagnosis, I naively thought we’d change her medications, and everything would be OK! I quickly learned that there are no specific treatment options for the disorders caused by a CACNA1A variant. I was told by a geneticist at Columbia to go on social media to see if I could find other parents whose kids had the disease and what medications their children took to manage the symptoms. It turns out there was a Facebook group with 45 members. We were all in the same boat – none of our doctors knew how to treat it. I connected with another mom online, and together, we formed the Foundation in 2020.

CACNA1A’s 4th annual virtual 5K in Spring 2024 that raised $86,775 to push science forward, with over 660 individuals and 37 teams across the globe.

Tell us about the CACNA1A Foundation.
Our mission is to build a collaborative research network of patients, families, clinicians, and scientists that will work together to raise awareness and accelerate the understanding, diagnosis, and treatment of CACNA1A-related diseases.

We have successfully organized a global research network of over 60 scientists who are now working collaboratively to find new treatments and, hopefully, one day, a cure. I am incredibly proud of the Family Conferences we have hosted so families can learn about the latest science and meet others traveling the same road. The next one is July 19 and 20 in Bethesda, MD. It’s very lonely having a child with a rare disease, but as we like to say, we are stronger together!

What is your goal for the CACNA1A Foundation?
The Foundation focuses on three main goals – supporting families by developing resources to help them better navigate their child’s disease, raising awareness of CACNA1A-related neurodevelopmental disorders, and supporting research to find better treatments for our community. Our ultimate goal is to find a gene therapy that will “fix” the mutated channel, and while we are funding research in this area, a cure is still years away. In the short term, we are working to find therapeutics that will improve quality of life, such as debilitating migraines, balance problems, and expressive communication issues that our children struggle with. Treating the symptoms, such as seizures, has unfortunately been trial and error for most of our children. We are in the process of publishing clinical care guidelines so that when a child is diagnosed, doctors know how to best treat the disease, which is very exciting.

How is Emily doing today?
Emily is doing really well. When she was younger, we were constantly dealing with medical emergencies.

Today, she lives semi-independently in an Abilis-sponsored group living environment in Darien and works as an assistant in a 4’s classroom at a preschool. She loves the kids, and it’s been such a wonderful experience for her.

Medically, she still struggles with seizures, daily headaches, and ataxia (balance issues), and her MRI now shows some atrophy in her cerebellum, where this gene is expressed. However, if you meet her, she is always smiling. She faces challenges head-on, works hard, is incredibly resilient, and has the best sense of humor. She’s really fun to be with and inspires everyone she meets.

What are your and Emily’s favorite things to do together in Stamford?
Emily’s favorite thing to do in Stamford is to play pickleball. She takes a weekly lesson at Pickleball America and has become quite a good player, so we like playing together. She has always loved the Stamford Nature Center; recently, we took my grandson there for the first time. It’s a treasure!

How do you hope your story inspires others?
When you have a child with special needs, your path is probably not the one you envisioned when you were pregnant. And while there are challenging moments, know there are many more beautiful ones.

My message to parents is that if you think there is something not right with your child’s development, fight for genetic testing. Trust your gut. Don’t let your doctor tell you to wait and see if a symptom improves. The bottom line is if something doesn’t feel right, don’t be afraid to investigate, ask questions, or push back. You have to be your kid’s greatest advocate.

My daughter’s diagnostic journey took 20 years, but that’s changing. Most of the kids in our community are under the age of 8. Genetic testing has come so far, and science is moving at such a fast pace. I’ve never been more hopeful than I am now.

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