As a mother whose daughter has a rare syndrome that is known in less than a dozen other children, I know what it’s like to battle the unknown.
For parents whose children have Batten Disease, not only are they battling the unknown but they are forced to helplessly watch their children deteriorate right before their eyes. More devastatingly enough, Batten Disease has no known cure.
The disease itself is complex. Overall, it is lumped in with a group of disorders known as Neuronal Ceroid Lipofuscinoses (NCLs). More specifically, Batten Disease “is one of approximately 50 diseases called lysosomal storage disorders (LSD).”* In LSDs, the patients cells have the inability to remove waste from the body which then leads to a build-up of proteins and lipids.
Before I get into the complexities of Batten disease, let’s look at the four categories of NCLs,
Congenital: this is the most severe and rarest form. Babies diagnosed with it typically pass shortly after birth.
Infantile: begins between 6 month to 2 years. The disease progresses rapidly and does not often have a survival rate past 5 years old.
Late infantile: begins between 2 to 4 years. The survival rate ranges between the ages of 8-12.
Adult NCL: begins before the age of 40. Often is called Kufs or Perry’s disease. Survival rate varied although the disease does shorten lifespans.
So what exactly is Batten Disease and what does it affect?
To understand Batten Disease, you have to first understand body tissue. Simply put, tissue consists of a group of cells that have similar shapes and functions. For example, connective tissue is jokingly referred to as the body’s “duct tape” as it helps connect and hold things into place like bones and organs.
A tissue’s productivity depends on how well the cells within it functions so let’s take a closer look at cells. Within each cell is something called a lysosome. In a nutshell, a lyosome’s job is to get rid of things that are no longer needed in a cell. Some like to call them “digestion machines” as they hold many enzymes that help break down and remove food. I like to call them “garbage disposals” because they eat up everything that is not needed . If you are in the market for a more scientific explanation, lysosomes specifically break down proteins, nucleic acids, carbohydrates, and lipids.
In Batten Disease, cells lose their ability to remove waste. As a result, all of these proteins, nucleic acids, carbohydrates, and lipids build up within the lysosome. This buildup leads to neural cell death which then affects the tissue in the brain and other parts of the body.
As the disease progresses, patients can experience:
- Blindness
- Seizures
- Intellectual decline
- Dementia
- Motor problems
- Repetitive Speech
To date, there have been many gene mutations associated with Batten Disease. For example, “More than 60 different mutations in the CLN3 gene have been shown to cause juvenile Batten disease.However, most children with the disease are missing the same string of 1,000 DNA building blocks from the CLN3 gene; this mutation is known as the “1kb deletion.” **
Identifying gene mutations, like any disease, is the first step in finding a cure. What is needed next are therapies to offset the mutations.
In the next few days, I will be putting together entries on the latest research involving Batten Disease.
In the meantime, take a look at some information sources on Batten Disease:
Beyond Batten Foundation: http://beyondbatten.org/understanding-batten/diagnosis-symptoms/
NIH: http://www.ninds.nih.gov/disorders/batten/detail_batten.htm
Sources:
*http://bdsra.org/what-is-batten-disease/
**http://beyondbatten.org/research/cln3-gene/#sthash.tzKzTwg9.dpuf
http://www.ninds.nih.gov/disorders/batten/detail_batten.htm
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