Jenifer Merriam and Niki Markou are courageous moms, serving on our Board of Directors. They share what it’s like to cope with a child’s suffering with a rare disease with no cure. These moms are working together to fund research for medical therapies and were recently awarded a Chan Zuckerberg Initiative Rare As One grant, which will help in their race against time for their children.
Niki, can you introduce yourself?
I live in Sydney, Australia and have an 18 year old daughter who has Lafora disease. She was healthy until she was 14, when she fell down and had a seizure.
Jenifer, can you introduce yourself?
My daughter was a healthy teen and around age 15, she started experiencing myoclonic jerking in her hands and arms. Eventually she began having frequent seizures, cognitive decline and was diagnosed with Lafora disease.
What are your current barriers for gaining access to treatments for Lafora Disease?
In the labs, they’ve found therapies, but we don’t have any human clinical trials, which is what we’re raising awareness around. With therapies available, we want to get our children to clinical trials to see if the therapies work. We’ve had planned clinical trials before that haven’t successfully happened because there aren’t enough Lafora patients for a return on investment.
What are you doing to move forward in finding potential treatments for Lafora?
We talk to a lot of organizations for similar diseases, talk to professors and biochemists around the world, meet and brainstorm, seek alternative pathways and drugs that could be used. Every minute we have we are taking this on, trying to find a solution.
You can also search on your podcast app, Once Upon A Gene and look for episode 138