The Vancouver Island community has come together in an emotional show of support for nine-year-old Charleigh Pollock after news broke that the B.C. government is discontinuing coverage of the only…
Patient Worthy's award-winning podcast "Wait, How Do You Spell That? A Rare Disease Podcast" is back with a new episode. This week, Colby is sitting down with Drs. Julie Gerberding…
Children with late-infantile onset Batten disease (CLN2) may be treated with an enzyme replacement therapy (ERT). However, this therapy cannot reverse the damage or progression children have already experienced. Researchers…
In total, there are thirteen subtypes of Batten disease. Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare and inherited neurodegenerative disorder that causes visual impairment, behavioral…
7-year-old Isla Edwards suddenly found herself struggling to see. Her vision became fuzzy when trying to focus on objects at a distance. Her parents assumed this meant Isla needed…
When Tom and Tammy Parteleno first learned that their son Michael had Batten disease, it felt overwhelming. Scary, even. What would the future bring for their son? The Parteleno family…
According to a story from CBS News Boston, Scarlett is just six years old and was recently hit with a devastating diagnosis: Batten disease. Unfortunately, very little can be done…
7-year-old Peter Heath loves to tell jokes, play with Legos, hang out with his friends, and spend time outside. Guided by his white cane, which Peter aptly named Marshmallow, Peter…
According to an article in Batten Disease News, enrollment is complete for a Phase 1/2 clinical trial. Within the trial, researchers will be evaluating Batten-1 for adolescents and adults with…
For the first three years of Brody Koslowski's life, he seemed - on the surface - to be a healthy, happy boy. So his parents, Matt and Molly, were…
Amanda Gilpin, a resident of Karratha in Western Australia, noticed that her little daughter occasionally would roll her eyes in response to some of her motherly advice. At times, she…
LEXEO Therapeutics and FUJIFILM Diosynth Biotechnologies have just announced their collaborative partnership. The aim is to develop and ultimately manufacture the AAV-mediated gene therapies developed by LEXEO. LEXEO LEXEO is…
According to a press release from late July 2021, LX1004, a treatment for patients with CLN2 Batten disease, received both Orphan Drug and Rare Pediatric Disease designations from the…
In a news release from June 29, 2021, biotechnology company Neurogene Inc. shared that its adeno-associated virus (AAV) encoding a codon-optimized human CLN5 transgene (hCLN5) received Orphan Drug designation from…
Mike Jackson's young daughter Evelyn was diagnosed with Batten disease after a neurologist suggested a genetic test which the family could take for free. John Barclay's daughter River passed away…
As originally reported in the BBC; In Leyland, Lancashire, Mother Melanie Moffatt describes feeling miserable on Christmas. She was spending it alone with her 10 year old daughter Matilda who…
In recent years, there have been huge progressions in the field of gene therapy. At its core, gene therapy addresses genetic disorders by using genes to directly treat or…
There are multiple forms of Batten disease, each with their own distinct genetic cause. One of these forms is caused by a mutated CNL6 gene, but researchers were unsure as…
According to Batten Disease News, Invitae and Axovant Gene Therapies partnered up to offer free genetic testing in North America. This will focus on children who are thought to…
How will this affect my child? Will this diagnosis change the way my child can receive medical treatment? If an emergency arises, do I have the knowledge needed to…
As previously published in Scientific American, slightly after her first birthday, Emma Larson lost the use of her legs and started experiencing difficulty crawling. She was diagnosed with spinal muscular…
Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…
The Carroll family recently welcomed their daughter Renesmee into the world. They immediately checked for symptoms of Batten disease, a rare, fatal nervous system disorder, as two of Renesmee's siblings…
Neurogene, which works to provide treatments for rare neurological disorders, has recently joined with Behind the Seizure. Behind the Seizure was established by two other companies, BioMarin and Invitae, with…
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All parents have fears for their children, but few of them expect their child to be diagnosed with a disease so rare there are only 2-4 diagnoses for every 100,000…
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