About CLN3
Batten Disease
Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body. These genetic mutations disrupt the cells’ ability to dispose of wastes. Cells are thrown out of balance with the build-up of proteins and lipids (fats). There are 13 known forms of Batten disease and you will often hear them referred to as CLN1-CLN14. It is estimated that 2-4 births per 100,000 in the U.S. are affected by Batten disease, though some researchers in the field suggest these numbers are low. (bdsrafoundation.org)
CLN3, often called juvenile Batten disease, is an ultra-rare, fatal, inherited disorder that primarily affects the nervous system and left untreated, is fatal. Children with CLN3 disease develop normally, even excelling in school until ages 5–6 years, when progressive vision loss becomes noticeable. Shortly thereafter, parents report personality changes and behavioral issues. Typically, within 2–3 years after symptom onset, total vision loss occurs, and seizures begin. This is followed by declining speech and the progressive loss of motor coordination. Eventually, children become wheelchair-bound, bed-ridden, and die in their late teens to late twenties. Some children display heart arrhythmias in their late teens requiring pacemakers. Psychosis, hallucinations and/or dementia can appear anytime during the disease. While this is the general order of symptoms as they appear, affected children and young adults can vary significantly in the time it takes to develop the next symptom and not every child experiences every symptom listed. (beyondbatten.org)
Symptoms
Symptoms vary from person to person. The first signs of Batten disease include:
Vision Loss
Epilepsy (seizures).
Cognitive problems, trouble learning or difficulty keeping up in school.
Problems with speaking. This includes speech delays, stuttering and repeating words or phrases several times.
Clumsiness and issues with coordination, balance and movement.
Other signs appear later, or they may overlap with the first symptoms. They include:
Tremors, tics, muscle spasms and myoclonus (abnormal muscle twitches).
Changes in mood, behavior or personality.
Hallucinations and episodes of psychosis (being out of touch with reality).
Sleep disturbances.
Muscle spasticity and rigidity (muscles that are always tight or flexed).
Weakness in the limbs, which progresses into paralysis.
Heart problems, such as arrhythmia (in teenagers and young adults).
(https://my.clevelandclinic.org/health/diseases/6018-batten-disease)
Foundations dedicated to Batten Disease:
Beyond Batten Disease Foundation was established to eradicate juvenile Batten disease by raising awareness and funds to accelerate research for a treatment or cure.
Our long-term vision is a world without Batten disease. Our mission is to support Batten families, fund and facilitate research and advocate for treatments and a cure.
There IS HOPE!
There are talented doctors, scientists and researchers who are working on clinical trials with medication, gene therapy and looking into ASO therapy (exon skipping).
There is an off-label drug (used for a different disease) that shows promise of slowing down the progression of this disease (it's in a clinical trial right now). Since this drug is FDA approved for a different disease it can be prescribed but is very expensive, if not covered by insurance.