The mission of Chelsea’s Hope is to improve the lives of those affected by Lafora Disease and help accelerate the development of treatments.
Chelsea’s Hope Lafora Children Research Fund is an IRS 501(c)3 non-profit organization. EIN: 27-1008382
Chelsea’s Hope, Post Office Box 348626, Sacramento, CA 95834
G-Tube Tips – A Mother’s Perspective
/by Niki MarkouA Mother’s Perspective on the Benefits of a Feeding Tube for Lafora Disease Patients
Has your child got a Gastrostomy tube, or have you been advised they will need it?
It is a very daunting decision to make as you are still grieving from the devastating diagnosis and watching your child change so rapidly. Take the time to research gastronomy tubes (g-tube) and decide when you feel ready. It is another big change for you, the family, and especially your child. Here are a few recommendations I’d like to share to help make this decision and to make it easier if and where possible.
The benefits of getting a gastrostomy tube inserted early can be helpful as your child is less at risk when their Lafora symptoms are less severe. Having the g-tube early will save on trips to the hospital if there are emergencies where you need to administer emergency medications. You can save the stress by helping your child in the comfort of your own home. You can also give additional nutrition if they are not adequately meeting their dietary requirements. A g-tube will help keep them strong for a lot longer, especially if you can provide them with nutrition that they necessarily wouldn’t eat if you asked them to.
Tips for caring for your child with a gastrostomy tube:
More information on g-tubes
Our Resources page has links to helpful tips. More information on ways to care for your child with a gastrostomy tube can also be found here. You can also join the TubeFed community on Facebook. Finally, check out these resources I’ve found helpful.
My recommendations are from my own experience with my daughter and shared from a mother’s/carer’s point of view. Please discuss everything with your healthcare team and follow any medical practitioner’s advice when given.
Sending Love
Niki
Parent and Director of Family Support
Announcing the Hybrid Lafora Disease Biomarker Workshop
/by Kit DonohueAugust 19-20, 2024 at UT Southwestern
Chelsea’s Hope is proud to partner with the UT Southwestern Medical Center (UTSW) in Dallas, Texas, to host a biomarker workshop. Our goal is to provide a platform for community education about the role of biomarkers in accelerating the path to clinical trials for Lafora disease.
For Families
Have you ever wondered why we collect blood serum and CSF samples for our children with Lafora? Do you have questions about why patients undergo regular MRI scans? This workshop is designed to educate about how biomarkers can accelerate the path to therapy approval in clinical trials. Also, we want to learn which biomarkers are the most promising for use in treating Lafora disease. Above all, this knowledge will lead to a brighter future for our children. Please register to attend virtually.
For the Lafora Research Network
Clinicians and researchers, we will be sponsoring several expert discussion panels during the workshop to reach a consensus on protocols for sample collection and critical markers to track. Please register to be a part of the discussion for the topics below:
Questions? Please check out our FAQs section on our webpage.
Empowering Lafora Disease Research: Launch of Patient Mutation and Canine Databases
/by Christine KellyHear from Emilie Heller about the launch of two databases she worked on:
“Hi everyone! My name is Emilie and I’ve just wrapped up my time at Chelsea’s Hope as the Research Network Development Intern. I’m excited to share about the launch of two Lafora databases.
Patient Mutation Database
Our new Patient Mutation Database is a comprehensive list of all the reported and published mutations leading to Lafora disease. Firstly, this database will assist with identifying disease-causing mutations. Furthermore, the database will improve our ability to predict mild versus classical disease progression to better treat Lafora patients. The mutation database will be freely available to anyone who registers for access. Researchers and clinicians are also invited to report novel mutations to help us develop a more accurate picture of disease-causing mutations in Lafora disease.
Launch of Canine Registry and Database
During my time interning at Chelsea’s Hope, I also compiled a central database with comprehensive data on affected canines. Numerous canine breeds are susceptible to Lafora disease, a rare and fatal progressive epilepsy causing neurodegeneration. By focusing on canine research on Lafora disease, scientists aim to unravel crucial insights into this complex disorder.
Formed by compiling many studies among leading research institutions, the initiative establishes a dedicated database and registry exclusively focused on collecting canine data related to Lafora disease. This database will serve as a repository for invaluable information, encompassing genetic data, phenotypic profiles, and treatment regimens for affected dogs.
Our organization will maintain and regularly update this database of mutations associated with Lafora disease in canines and their associated phenotypes. By cataloging genetic variations observed in affected canines, researchers will be able to identify patterns and correlations that could shed light on the underlying mechanisms of the disease. This comprehensive canine database is poised to facilitate targeted investigations into the genetic basis of Lafora disease, both paving the way towards finding a cure for our canine friends, and accelerating treatment for human patients with Lafora.”
Researchers and veterinarians can request access to the database. Dog owners can add their affected dog to the Lafora Canine Registry.
Disclaimer: Emilie’s post was edited for clarity.
Find the webpages and forms for accessing the databases on the Chelsea’s Hope website. The organization looks forward to empowering Lafora disease research and fostering collaboration. Finally, please email katherine@chelseashope.org with any questions.
The Latest Research in Lafora Disease – Summarized for Easy Reading
/by Maysoon HussainResearch Simplified for Families
Interested in learning about the new research developments in Lafora disease in a concise and easy-to-read form?
Keep reading for summaries of some of the latest published research in Lafora disease. Our goal is to make the research easier to read and understand for families. You’ll find the research simplified in one-page PDFs, but we will also link to the full peer-reviewed publications.
1. Early Treatment With Metformin Improves Neurological Outcomes in Lafora Disease
2. Effect of Alglucosidase alfa (Myozyme) Therapy in Lafora Disease
3. Antisense oligonucleotide (ASO) therapy targeting Gys1 gene
4. Identifying CSF and PET scan biomarkers to evaluate progression of Lafora Disease
Questions? Contact Maysoon Hussain (maysoonhussain1@chelseashope.org).