An Update on Alexis | #WarriorWednesday

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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

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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

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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

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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.

Chelsea's Hope Lafora Children Research Fund Research Roundtable Thursday, April 27th, 10:30 am - 12:00 pm EST. Register to attend via Zoom We'll hear from Lafora Disease and Adult Polyglucosan Body Disease researchers around a common goal: reducing glycogen aggregation in the brain.

First Lafora Disease Research Roundtable

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A square image announcement for the Lafora Disease Research Roundtable. The top half of the image reads: Chelsea's Hope Lafora Children Research Fund Research Roundtable The bottom half contains the event details: Thursday, April 27th, 10:30 am - 12:00 pm EST. Register to attend via Zoom We'll hear from Lafora Disease and Adult Polyglucosan Body Disease researchers around a common goal: reducing glycogen aggregation in the brain. Please join us for our first Lafora Disease Research Roundtable!

When? It will be Thursday, April 27th, 10:30 am – 12:00 pm EST.

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

We’ll bring together Lafora Disease and Adult Polyglucosan Body Disease researchers around a common goal: reducing glycogen aggregation in the brain. The Research Roundtable will feature several presentations, followed by time for group discussion.

The presentations will be geared toward the science community as we work to build allies toward developing treatments for Lafora disease, but everyone is welcome. Families are welcome to attend and ask questions, so we hope you will be able to join us for this event!

It’s only one week away, so register today for the Lafora Disease Research Roundtable!

Also, please register if you are interested but you are unsure if you can attend or not! We hope to send the Zoom recording of the roundtable to everyone who signed up. However, we will not make the recording available publicly.

Chelsea’s Hope is excited for our first Research Roundtable. If successful, we plan to continue the series in the future. Please contact us before the roundtable if you have any questions.

Register for the Research Roundtable