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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.

EPISODE HIGHLIGHTS

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

Want to read some research on Lafora disease but a more simplified version? Well Dr Jordi Duran from the Institute for Research in Biomedicine (IRB Barcelona) in Barcelona, Spain has provided us with an easier version of his latest research paper for us to read.

Research Paper: Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora

This paper discusses the accumulation of glycogen aggregates and understanding the role of the protein p62

To read more

President of Chelsea’s Hope, Frank Harris was featured on @wcbtv channel 3 in Tennessee to raise awareness and discuss his story of caring and loosing his daughter Kelsey who had Lafora disease.

To watch the video

October 1^st Marks Inaugural Awareness Mission

for Lafora Disease

Lafora Body Disease Day is raising awareness for funding, research, and medical therapies

SACRAMENTO, Calif. – September 30, 2021 – Chelsea’s Hope Lafora Children Research Fund today announced that October 1, 2021, is the inaugural Lafora Body Disease Day. The mission is to create awareness, connect families, fund research, and maintain hope, with awareness efforts continuing throughout the month.

Lafora Disease is a degenerative neurological condition affecting children. Lafora Disease is a genetic condition in which patients are unable to maintain a normal concentration of glycogen, resulting in a toxic accumulation of glycogen, or Lafora Bodies, in the heart, spine and brain. Lafora Disease is terminal, there is no cure. Children first show symptoms in their early teens and typically die within 10 years. Unfortunately, accurate diagnosis is often not made until anti-epileptic medications no longer control the seizures.

“There are no initial signs or symptoms,” said Frank Harris, the President of Chelsea’s Hope Lafora Children Research Fund. “Children are normal, active and intelligent throughout their elementary school years. Seizures are typically the first symptoms, but then the disease shows its true horror. The seizures become increasingly uncontrollable. Then these once normal, healthy children suffer with further physical and neurological degeneration. They lose their ability to walk and talk. They must be fed via a G-tube and need around-the-clock care. And these families know that without a cure, their children will die in a vegetative state, typically within 10 years of onset.”

Families are very involved in raising awareness of Lafora disease, such as Azeza Kasham and Moniqueca Barfield, who have been advocating for medical and financial support in the fight against their children’s affliction. Azeza lost her first-born son, Haitham, at age 16 and is now fighting for her 12-year-old son, Gehad. Moniqueca is a mother of 18-year-old Khari, who developed symptoms and experienced her first seizure when she was 12.

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Chelsea’s Hope was created in 2007, when Linda Gerber and a small group of dedicated friends developed a website to share her daughter Chelsea’s story with family and friends. Under their leadership, the organization became the key source of information for affected families and the primary source of research support. It is the mission of Chelsea’s Hope to raise awareness about Lafora Disease, connect with other Lafora families and help fund research to find a cure.

To help fund research to find a cure for Lafora Disease, visit chelseashope.org/donate. Chelsea’s Hope can also be followed on Facebook @chelseashopelaforacure.

Official document PRESS RELEASE_Chelsea’s Hope_Lafora Body disease Day