News & Blog

Text along the bottom of the square image reads: we are excited to announce our new partnership! The round Chelsea's Hope Lafora Children Research Fund logo is on the top left and the Probably Genetic logo is on the right.

Probably Genetic Partnership Announcement

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Chelsea’s Hope partners with Probably Genetic to identify Lafora disease patients

Text along the bottom of the square image reads: we are excited to announce our new partnership! The round Chelsea's Hope Lafora Children Research Fund logo is on the top left and the Probably Genetic logo is on the right.

Chelsea’s Hope Lafora Children Research Fund is excited to announce our new collaboration with Probably Genetic as a patient-finding partner for our community. If you or anyone you know is looking for a trusted genetic testing resource, Probably Genetic runs a no-cost, low barrier testing program for individuals experiencing seizure and developmental delay-related disorders.


Read more on the Probably Genetic Partnership

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizure or developmental delay-related disorders. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease-causing mutations.

We are looking forward to reducing the diagnostic odyssey of many patients through our Probably Genetic partnership.

Genetic Testing Eligibility

To participate, candidates must reside in the United States. Take a brief, easy-to-understand online quiz to determine your eligibility for the program. Also, caregivers, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance.

How it works

  • First, go to the Symptom Checker page on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes.
  • The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks.
  • If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up.
  • Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not seizure-related.
  • You will have access to post-test genetic counseling with a board-certified genetic counselor if you qualify for testing. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results.
  • View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data.
Take the Symptom Checker Here

The Probably Genetic team is always open to feedback so the program is as successful as possible for the Lafora disease community!

Fighting the Rare Documentary

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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

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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