News & Blog

Shining a light on Lafora disease for Rare Disease Day 2023

We will show our stripes for Lafora disease on 2023 Rare Disease Day.

SACRAMENTO, Calif. – February 27, 2023 – Chelsea’s Hope Lafora Children Research Fund, a 501(c)(3) nonprofit organization, wants to share stories of Lafora disease patients like Alexis Rodriguez to raise awareness about the ultra-rare epilepsy.

Lafora Disease is a degenerative neurological condition affecting children. It 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. Symptoms include ataxia, childhood dementia, cognitive decline, and difficulty speaking, walking, and eating.

Alexis Rodriguez’s first symptom was a seizure. Now 19, she was a healthy and bright student before the onset of her symptoms. She played the violin, was an avid reader, and was a swimmer on her high school team. Her dream was to become a registered nurse.

Over the past three years, Alexis experienced frequent seizures, could no longer attend school in person and lost her ability to walk and talk. Now, she relies on a customized wheelchair, feeding tube, and full-time care from her single mother, AC, godmother, and nurse.

“Lafora robs the children of the right to live,” says AC.

Alexis’s story is similar to other Lafora patients. Children first show symptoms in their early teens and typically die within 10 years. There are an estimated 200 Lafora patients worldwide. Lafora Disease is terminal; there is no cure. But Rare Disease Day provides hope and a platform to share these stories. Today is the day to help raise awareness!

Alexis’s doctors have applied for FDA approval for the emergency use of a medication to target the glycogen buildup in her muscles. Unfortunately, her insurance company will not cover the cost of this treatment, even though it could slow down the pace of this disease and give Alexis a fighting chance. Her mother started Angels for Alexis in December 2022. To help her family access the treatment, visit https://chelseashope.org/donate/ and specify that you’re donating to “TEAM ALEXIS” for a tax-deductible donation. Follow @angelsforalexis on Instagram for updates.


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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. Today, Chelsea’s Hope Lafora Children Research Fund aims to improve the lives of those affected by Lafora Disease by raising awareness, connecting families, and accelerating research. Follow Chelsea’s Hope across social media @chelseashopelaforacure and find more information online or donate to help accelerate research at chelseashope.org.

Contact info@chelseashope.org for press inquiries.

 

New article about Lafora disease

 New from Dr. Jordi Duran! It’s a review on how the accumulation of glycogen in astrocytes, glial cells in the central nervous system, contribute to Lafora disease and other neurodegenerative conditions.

Chelsea’s Hope Received CZI Grant to Advance Lafora Research

We are so excited and grateful to share that, in partnership with the University of Texas-Southwestern, we’ve received a Chan Zuckerberg Initiative grant to advance Lafora disease research. The project is titled Closing the Knowledge Gaps in Lafora, a Fatal Neurodegenerative Disease.

The research team includes primary investigators Dr. Berge Minassian and Dr. Kit Donohue, as well as Dr. Maria Chahrour, Dr. Sharmistha Mitra, Dr. Felix Nitschke, and Dr. Matt Gentry.
Project goals include:
? Connecting researchers to the patient community
? Engaging patients in research
? Opening the path to therapy

AmazonSmile Ending

AmazonSmile online shopping ending.

AmazonSmile is ending February 20, 2023.

AmazonSmile is ending on February 20, 2023.

Amazon has donated $3,832.56 to Chelsea’s Hope since we joined the AmazonSmile program in 2021.

It might not be much to many, but it’s a lot to us!!! We are grateful for every cent and disappointed that the program is ending. Here’s part of their official statement:

“To help charities that have been a part of the AmazonSmile program with this transition, we will be providing them with a one-time donation equivalent to three months of what they earned in 2022 through the program,* and they will also be able to accrue additional donations until the program officially closes in February.”
So, you have until February 20 to shop and support Chelsea’s Hope.

*Chelsea’s Hope anticipates at least a $200 one-time donation
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