Tips for Families

We have created a PDF with tips for families living with Lafora disease that will be especially helpful for the loved ones of newly diagnosed patients. Download Living with Lafora Quick Tips or read the information below. Also, download and read the document in Italian: Vivere con la Malattia di Lafora.

Please email info@chelseashope.org if you have advice you would like to share with the community. Also, please contact us for a version of the tips for families PDF with larger font.

WHAT TO LOOK FOR

Does your child have epilepsy? Has your child been diagnosed with Juvenile Myoclonic Epilepsy? Lafora disease mimics Juvenile Myoclonic Epilepsy, so most children are initially misdiagnosed. Early signs that it could be Lafora disease are the slowing down of cognition, the ineffectiveness of seizure medications, and increased myoclonic and absence seizures.

ONSET OF SEIZURES IN ADOLESCENCE THAT MEDICATIONS DON’T HELP

WHO YOU CAN CONTACT

Woman holding a phone - Lafora disease tip about who to contact

  1. Fill out our Patient Contact Form. Please ensure you have a confirmed diagnosis of Lafora disease from genetic testing.
  2. Sign up for newsletters and closed Facebook groups to keep in touch with other families worldwide.
  3. Follow our social media pages.
  4. Get involved in online and face-to-face meetings.
  5. Join our volunteer network!

STAY CONNECTED WITH THE LAFORA DISEASE COMMUNITY

WHAT TO ASK FOR

Medication Recommendations: Many of our specialized doctors recommend a few medications. Please see the scientific articles regarding the finding and benefits of Metformin and Perampanel and ask if these could be suitable for your child.

Genetic Testing: Has your child had a genetic test to confirm they have EMP2A or EMP2B mutations? Please ask your doctor for this if you still need to do genetic testing to confirm a Lafora disease diagnosis.

BE THE VOICE FOR YOUR LOVED ONE

WHAT YOU CAN SEEK

Caregiving support: Seek out your local palliative care teams. Get carers respite and assistance in your country for carers and nurses (if available) when and if you need these supports to help you care for your child.

Therapies: Many therapies in the pipeline for Lafora disease are not yet available, and our collaborations with researchers and pharmaceutical and therapeutics companies are actively happening behind the scenes. When there are updates on therapies available, we will communicate via email, so please ensure you register with us as a family member. We might also communicate updates on social media or directly to your physicians if we have their contact information.

BE A STRONG ADVOCATE

Download the Living with Lafora Quick Tips PDF