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Blog post G-Tube Tips for Lafora families

G-Tube Tips – A Mother’s Perspective

G-Tube Tips for Lafora Disease Patients blog

A 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:

  1. A low-fiber formula for nutrition is ideal, as a formula with high fiber is hard for a slow gut to process. A high-fiber formula could cause more frequent constipation and vomiting issues as their bodies cannot break down the fiber quickly enough. A high protein feed with a good water intake is helpful. 
  2. Stool softeners can alleviate any adverse effects, like constipation and vomiting.
  3. If lying down, elevate their head to a 30–45-degree elevation to avoid aspiration into their lungs.
  4. If you can administer the formula slowly or intermittently, then this will help them absorb it and avoid overfill, which can cause vomiting. 
  5. Overnight feeds can help if they get upset with having to be fed this way and put less stress on the body to work quickly. 
  6. Venting/Degassing is good if they are having painful gas issues.

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

Lafora Disease Biomarker Workshop August 19th - 20th Hybrid event hosted by Chelsea’s Hope at UTSW Register Now to Participate

Announcing the Hybrid Lafora Disease Biomarker Workshop

August 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. 

Lafora Disease Biomarker Workshop Biomarker 101 for families Patient sample collections Discussion panels Register Now August 19 - 20 Hybrid at UTSW

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: 

  • Metabolic Biomarkers from Serum, CSF, and MRI/FDG-PET scans
  • Epilepsy & EEG Clinical Markers
  • Cognitive Evaluation & Markers
  • Motor Skill Evaluation & Markers

Questions? Please check out our FAQs section on our webpage. 

White text says 'NEW LAFORA DATABASES' above an image of genetic mutation. It has a purple overlay. Purple text over a white block says 'Canine & Mutation.' There is a photo of a beagle to the left of the text. White and purple circles decorate the edges of the graphic, with the round Chelsea's Hope Lafora Children Research Fund logo in the bottom right-hand corner.

Empowering Lafora Disease Research: Launch of Patient Mutation and Canine Databases

Hear 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.

Lafora Mutations Database Page Lafora Canine Registry and Database
Research Simplified for families

The Latest Research in Lafora Disease – Summarized for Easy Reading

Research 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).