Lafora Body Disease Day is a time to raise awareness to help reach a cure to #FightLafora.

SACRAMENTO, Calif. – September 23, 2022 – Chelsea’s Hope Lafora Children Research Fund announced that October 1, 2022, is the second annual 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 cannot maintain a normal glycogen concentration, 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.”

Sibling Mariah Merriam talks in our video launching October 1st, about her challenges of being the only sibling without Lafora disease and the survivor’s guilt she feels watching her sister Anissa and brother Ty slowly die whilst she lives her life as a normal young adult. She discusses the signs she noticed in her sister as the years went on until they received the diagnosis and her life’s mission to study in a Lafora lab on research to find a cure for her siblings. To listen to her story please go to our YouTube page.

Mother of Anissa, Mariah and Ty and Research Director Jenifer Merriam says, “This is a disease where we watch them go backward. My daughter Anissa, a once vibrant teenager now 24-years-old, suffers from seizures daily and childhood dementia. She has a g-tube placed in her stomach for medications and experiences ongoing cognitive decline along with swallowing issues.” Anissa’s doctors have informed her family that in time and without treatment or a cure, she will lose her ability to walk and talk and most likely not survive past 10 years from the onset of her symptoms.

Volunteer parent advocate Niki Markou, from Sydney, Australia, who has an 18-year-old daughter with Lafora, believes that the funding delays in trialing the breakthrough drugs will impact the current children significantly. “It is hard to maintain hope when trials keep being pushed back due to funding. It means we have to work harder to raise the capital ourselves in such a short period of time. It feels impossible! This is why we need the help to treat these children before they die. No child should face their own death.”

“Lafora disease is a severe progressive neurological condition. The onset is at puberty, as if puberty is not hard enough. Children begin developing seizures and the seizures become more frequent and more severe as the disease progresses,” says Executive Director Lena Ismail. Our kids begin experiencing ataxia, childhood dementia and they typically die within 5-10 years of their seizure onset. There’s currently no treatments and no cure available for lafora disease. There’s not even been a clinical trial and not because researchers haven’t discovered treatments. We have great preclinical data. It’s because we can’t get them into our kids due to funding.”

October 1, 2022, would have been Chelsea’s 32 birthday. Today is the day to help us reach a cure and #FightLafora. Your support will make a real impact on the lives of our Lafora warriors and their families. Today is the day you can help!

###

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. Under their leadership, the organization became the key source of information on Lafora disease for affected families and the primary source of research support. Chelsea’s Hope’s mission is to raise awareness about Lafora Disease, connect families and help fund research to find a cure.

To help fund trials to find a cure for Lafora Disease, visit chelseashope.org/donate. Follow Chelsea’s Hope on Facebook and Instagram @chelseashopelaforacure.