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Charleigh CLN2 Batten Disease


Charleigh CLN2 Batten Disease

Charleigh is a little girl who lives on Vancouver Island Canada and is currently battlingCLN2 Batten Disease. She was diagnosed on May 22, 2019, at the Victoria ChildrensHospital in Vancouver. Since her diagnosis, she motors around by using her wheelchair and help from her mom and her stepdad.

Unfortunately, Charleigh doesn’t speak anymore but gives emotions using facial expressions. She is still a outgoing, fun little girl who loves to do activities and was recently in the Buccaneer day parade with Helmet Head Canada spreading awareness about her condition.

Helmet heads is helping out Charleigh by not only spreading awareness but also making her wishes come true by giving her the special opportunity by being a special guest in a parade, offering her and her family precious memories to cherish forever along with special toys to hold onto those precious moments. Helmet heads Canada is
all about spreading joy to children by donating toys to hospital’s, always going above and beyond for them while watching them smile from ear to ear.

If you wish to help Helmet Heads, here is the link:

What is CIN2 Batten Disease?
CIN2 Batten disease is a disorder caused by mutations in the TPP1 gene, which includes an enzyme called tripeptidyl peptidase 1. This enzyme is crucial for breaking down proteins in the lysosomes, the cell's recycling center. When this enzyme is
deficient or dysfunctional, waste products accumulate in the brain and other tissues, leading to the severe symptoms associated with the disease.

Symptoms and Progression
The symptoms of CIN2 Batten disease typically appear between the ages of 2 and 4 and include:

Vision Loss: One of the early signs, often progressing to blindness.
Developmental Delays: Children may miss developmental milestones such as walking or talking.

Language Skill Deterioration: Initial speech development may regress, leading to loss of language skills.

Seizures: These often begin around the same time as other symptoms and can become progressively worse.
As the disease progresses, children experience cognitive decline, motor difficulties, and loss of coordination. Unfortunately, the life expectancy for children with CIN2 Batten disease is significantly reduced, typically ranging from 6 to 12 years. However, there is a spectrum, and some children may pass away in early childhood, while others might live into their late teens or early twenties.

The Rarity of CIN2 Batten Disease
One piece of good news is that CIN2 Batten disease is incredibly rare. In British Columbia, for example, there is currently only one known case and that is Charleigh. This rarity offers some relief to parents concerned about genetic disorders but also presents challenges for those affected, as the rarity can complicate research and treatment development due to limited data and resources.