Fighting the Rare Documentary

/by

Release date June 26, 2023

Fighting the Rare is a documentary offering a glimpse into research on Lafora disease through the testimonies of researchers, patients, and their relatives.

Why Lafora disease?

Lafora Disease is a rare neurodegenerative condition affecting children. It is terminal; there is no cure. Healthy children first show symptoms in their early teens, epilepsy followed by cognitive decline, and typically die within 10 years. Lafora disease is ultra-rare, with around only 80 registered children affected in the world and a suspected 200-300 patients worldwide.

Research on Lafora Disease is an example of how a disease can be studied, from its discovery to obtaining the first treatments. In Fighting the Rare, using family stories and the study of Lafora as a backbone, general concepts related to biology and medicine, diseases, the scientific process, and the importance of research are explained. It is a must-watch for the rare disease and health community.


Who is in the documentary?

The documentary was created by Dr. Jordi Duran, Dr. Jaume Duran, and César Valdivia, who collaborated with a worldwide network of people fighting Lafora disease, including these researchers: Dr. Berge A. Minassian (the University of Texas Southwestern Medical Center); Dr. José María Serratosa (Institute for Health Research F. Jiménez Díaz); Dr. Matthew S. Gentry (University of Florida); and Dr. Joan J. Guinovart (Biomedical Research Institute); Dr. Salvador Borrós and Dr. Cristina Fornaguera (Chemical Institute of Sarrià). They interviewed two families telling their stories: Niki Markou from Sydney, Australia; Jenifer and Mariah Merriam from Arizona, USA.

Want to share this news with your community? Download the toolkit now! Sharing the documentary will help raise awareness about Lafora and other rare diseases.

We are so excited to watch the documentary!

An Update on Alexis | #WarriorWednesday

/by

Alexis in her wheelchair, May 2023.An update on Alexis was provided by Kim Marino on May 16, 2023:

“Alexis has been stable for the last couple of months but just recently within the last couple of weeks seizure activity has picked up a great deal. The seizure activity has led to behavior problems which is understandable. Though we haven’t had any gran mal seizures we are having a lot of myoclonics. Alexis hasn’t been able to even stand as much as she has been in the past couple of weeks. Her verbal communication has become worse. Now that summer is here we will try and get her out as often as possible to enjoy the weather and family.”

  • Alexis May 2023

  • Alexis and AC

  • Alexis and family enjoying the sun

123

As Alexis’s Lafora disease symptoms continue progressing, helping her access an experimental treatment is more important than ever. Her team of doctors, including geneticists and neurologists, has applied for FDA approval for the emergency use of medication to target the glycogen buildup in her muscles. However, Alexis’s 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, AC, started a GoFundMe for Alexis in December 2022. 100% of the proceeds will go towards the cost of this medication and any additional expenses that may be incurred during the process. You can donate to become one of Alexis’s Angels today and share her story with everyone you know!

Read Alexis Rodriguez’s Story

June Research Roundtable Registration

/by
June Lafora Disease Research Roundtable image of a pink background with a pinned piece of paper. It has a logo reading: Chelsea's Hope Lafora Children Research Fund Research Roundtable Next lines of text: Thursday, 22 June 10:30 am - 12 pm EST Button text reading: Register to attend via ZoomPlease join us for our June Research Roundtable! Registration is now open.

When? It will be Thursday, June 22, 2023, from 10:30 am – 12:00 pm EST.

Where? The Roundtable will be virtual. You can register to attend via Zoom! 

We will be hearing from experts on clinical markers in Lafora Disease. Like the April Roundtable, there will be presentations and ideally time for discussion at the end.

Families are welcome to attend and ask questions, so we hope you will be able to join us for this event! We recommend that you refer to Science Terms 101 if you are not a researcher or clinician attending. It’s full of helpful definitions of scientific terms you might hear. You can download the PDF and print it out for your reference!

The Roundtable is only one month away, so register today!

Also, please register if you are interested but you are unsure if you can attend or not! We will email a summary of the Roundtable to everyone who registered. It will also be posted on our Research Roundtable page.

Chelsea’s Hope is excited about our June Research Roundtable. Please contact us if you have any questions.

Register for the Research Roundtable
Lafora Bodies

Lafora Disease Science Terms 101

/by

We’ve just published the helpful PDF filled with Lafora Disease Science Terms that you can download for your own use or to share.

Our community benefits from a number of dedicated research champions who work alongside our families to find a cure for this devastating disease. There is a lot that we can learn about Lafora disease from our scientists. As you read their scientific publications and listen to their presentations, please refer to the Science Terms 101 publication for terms that will help you understand their research.

Lafora Bodies

Lafora Bodies

For example:

Glycogen: When our bodies have extra sugar (glucose), they store it in the form of glycogen, which is made up of a bunch of sugars linked together. Our bodies use sugars to make fuel for our cells (the way that gasoline or electricity fuel a car). When your body needs energy quickly, it can remove the sugar from this storage device and use it for fuel.

Protein-Coding Gene: A piece of DNA that contains instructions for synthesizing a protein. Patients with Lafora Disease have mutations in one of two genes:
1. EPM2A: the gene with instructions for making the protein laforin.
2. EPM2B (also called NHLRC1): the gene with instructions for making the protein malin.

Besides glycogen and proteins, Lafora Disease Science Terms 101 includes definitions for biomarkers, knock-in and knock-out mouse models, and more! Get your copy today.

Download Lafora Disease Science Terms PDF

Thank you to Chelsea’s Hope Science Director Dr. Kit Donohue, for defining the terms.