Newly diagnosed with Lafora disease?

We are here to help you.

1. Learn what Lafora disease is

Start by understanding the basics. Knowing what symptoms to expect and how the condition typically progresses can help you feel more prepared to support your loved one.

👉 Read our Lafora Disease Overview

2. Talk with your care team

Your neurologist will be an important guide. They can help manage seizures, monitor other symptoms, and connect you with specialists. In addition:

Ask about genetic testing to confirm the exact mutation
Request referrals for speech, physical, or occupational therapy
Discuss what to expect over time

This conversation can be overwhelming, so consider bringing a list of questions and taking notes during your visit.

3. Register for research

Joining a patient registry is one of the most powerful things you can do. It not only connects you with the latest updates, it also helps scientists move research forward faster.

👉 Join the Lafora Disease Clinical Registry (Madrid)

4. Learn about treatments being studied

Although there is no cure yet, research is making exciting progress. New approaches are being explored, including:

Antisense oligonucleotides (ASOs) – which may target the disease at the genetic level. Learn about the ION283 Safety Study here.
Repurposed drugs, like Metformin – already approved for other conditions

👉 View the Lafora Disease Therapy Overview

👉 View the Lafora Therapy Clinical Pipeline

By staying informed, you’ll be ready when new options become available.

5. Connect with other families

You don’t have to do this alone. Lafora families understand exactly what you’re going through, and we are here to support you.

There are several ways to get involved:

👉 View upcoming events

Even a single conversation can make a world of difference.

You’re not alone

As our founder Linda Gerber said:
“Together, we can maintain hope.”

And that hope starts now! With you, your loved one, and the growing Lafora community beside you.

Stay connected with Chelsea’s Hope

Join the Lafora disease registry.

The first step is to sign the informed consent form, so if you are interested, please email registry@lafora.es.

Learn more about the Lafora Disease Registry

Frequently Asked Questions

Why get genetic testing for Lafora disease? Should siblings get tested?

A diagnosis of Lafora disease is confirmed by testing for mutations in the EMP2A or EMP2B genes. Siblings who share both biological parents with a child with Lafora disease may be at risk, families should consider testing and discuss with their doctor on an individual basis. Siblings that only share one parent are unlikely to be at risk and usually do not require testing. Testing siblings even if they do not have symptoms is important because there are treatments available that can delay symptom onset and prevent the progression of the disease.

Why participate in a Lafora disease registry?

The Lafora Disease Registry aims to have a database of children living with Lafora disease, know their symptoms, stage, and use this information to prepare for future clinical trials. If you are interested in participating in the registry, or would like more information, you can email registry@lafora.es.

Also, Chelsea’s Hope is in the process of creating a caregiver registry to provide better support for the needs of caregivers, understand what caregivers feel is important in patient care, allow for more networking, and for clinical trial planning. Stay tuned for more information about that, soon!

How do I find a good neurologist?

A neurologist who is a childhood epilepsy specialist would be most appropriate for children with Lafora disease. Your child’s pediatrician may be able to guide you in choosing a neurologist who is a good fit for your family. In addition, by connecting with the Lafora community, you may benefit from the perspectives of other families or experts.

What questions should I be asking the doctor?

You may know some of the latest research before your doctor, or you may have heard about a treatment, supplement, or diet that you want to try. You should ask your doctor for their recommendation prior to starting something new.

If your doctor doesn’t have an answer, you could ask them who you could be referred to that could help – for example, a dietician, physical therapist, occupational therapist, or social worker.

What support systems are available (mental health, support groups, child care facilities, etc.)?

We are always here to help you in any way we can. Part of our mission is to support those affected by Lafora disease, after all! Chelsea’s Hope has a Facebook group, exclusively for families, which we invite you to join. You can also connect with our Director of Family support, join a monthly parent support group, or learn more about our sibling support program.

We also recommend some other organizations and readings on our Resources page, some of which we’ll highlight here:

Rare disease resources for families, by fellow rare disease families: https://www.librarey.com/
The National Organization for Rare Disorders supports rare disease families in the United States.
Caregiver Support: https://www.raregivers.global/
Mental Health: https://www.mentalhealthishealth.us/for-you/
Patient Advocate Foundation: https://www.patientadvocate.org/
Support for Parents: https://courageousparentsnetwork.org/

Join the Facebook Family Group

You are not alone.

Join our Lafora disease family page on Facebook, a private space to share information about caring for a loved one with Lafora disease. Newly diagnosed families can connect with a community that understands exactly what you’re going through! The Facebook group is a place where we can share concern, love, support, and hope with each other.

Please note: your approval request may be denied if you do not answer the questions or are not a Lafora disease family member.

Join the family group

Finally, everyone is welcome to give us a like on Facebook! The Lafora disease community spans families to include friends, clinicians, researchers, industry partners, and well-wishers. Please follow along for the latest updates and check out our latest post to the right.

Read patient and family stories

Mathilde Daubjerg

Denmark Meet Mathilde, who, at the age of 21, has been battling…

Emine Malaj

Emine (Emi) Malaj, Leicester, United Kingdom Written by Fatos…

Zaina Zaid Nemer

Zaina, from Gaza City, is the seventh patient in the ION283…

Tracy Anastasio

Lanzarote, Spain In March 2022, Tracy, then aged 13, had her…

Carmen Anastasio

Lanzarote, Spain In June 2022, Carmen, then aged 12, had her…

Mia Vivian Clement

Maine, USA Mia Clement was a healthy student-athlete before…

Jessica Nicole Ambroe

Johnstown, PA USA 2023 marks 16 years in our fight…

Anissa Merriam

Anissa Merriam Anissa Merriam was a vibrant teenager,…

Gigi Breadiy

Azeza Kasham from Ann Arbor, Michigan, is pleading for…

Milana Gajic

Bosnia and Herzegovina The Gajic family from Banja Luka in Bosnia…

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Latest news

Vibe Bio and New Hope Therapeutics launch today

June 22, 2022/by Niki Markou

Today, I’m thrilled to share that our community is growing as our partnership with Vibe Bio officially launches to form New Hope Therapeutics – our joint company dedicated to pursuing a treatment for Lafora disease. I first learned about Vibe Bio and its cofounder Alok Tayi through a mutual contact, and after hearing about Vibe […]