One day, out of nowhere, you discover that your otherwise healthy daughter seems to be having trouble keeping her balance. She was never the clumsy type, but she’s now running into furniture at a record rate. Stumbling into things. Not wanting to ride her beloved bicycle.
We take her to the eye doctor, thinking she probably needs glasses, but the usual tests detect nothing wrong with her vision.
The problem worsens, so we get a second opinion. The next eye doctor also confirms her eyes are healthy, but suggests that if the problems persist, we should consider taking her to a neurologist, so we do. There, a fear we didn’t know we had would be realised: Our girl would be diagnosed with a fatal condition called Batten Disease.
What is Batten Disease?
The Cleveland Clinic defines Batten Disease as:
“A group of genetic conditions that cause cells to collect waste instead of getting rid of it. This leads to seizures, vision loss and problems with thinking and movement.”
Who is at risk for Batten Disease?
Because it is an inherited metabolic disorder, caused by a gene change, you are at risk of getting it if both biological parents carry and pass on the gene variant.
Thankfully, it is extremely rare, but the disease still impacts 14,000 children and young adults worldwide.
What are the symptoms of Batten Disease?
As described in the introduction story, vision loss and balance in children are typically the first indicators that Batten Disease may be present.
Other symptoms include: seizures, difficulty with cognitive functions, behavioural changes, stuttering and other speech difficulties, memory loss, sleep disturbances, hallucinations, heart problems and muscle issues.
Infants and toddlers often develop normally, achieving milestones at appropriate times, so it’s especially important to be vigilant if your child develops these symptoms as they grow.
If you suspect your child may have Batten Disease, the steps to diagnosis often include genetic testing, tissue samples (via biopsy) and an electroretinography eye exam to check the health of the optic nerve and measure how the retina responds to light. Consult with your medical professionals to schedule the appropriate tests.
What are the treatments for Batten Disease?
Though presently there is no cure for Batten Disease, currently there are treatments in place to manage symptoms. These may include mental health counseling (for the patient and entire family, to help navigate the progression of the disease), physical and occupational therapy and medications (there is one FDA-approved infusion treatment currently available).
There are also promising clinical trials involving gene replacement therapy and stem cell transplants that patients may qualify for—your doctor will likely recommend participation if it’s available.
Life Expectancy
Each child is different, but those who are diagnosed in infancy typically survive 5 – 6 years after the diagnosis; those diagnosed later in childhood often live into early adulthood. The later the symptoms appear, the greater their likelihood for a longer life.
Though incredibly rare, adults can also be diagnosed with Batten Disease, but seldom past the age of 30.
Don't Lose Hope
If someone you love has been diagnosed with Batten Disease, or you suspect your child may have it, there are scientists working toward developing new therapies and ultimately searching for the cure.
- The Batten Disease Global Research Initiative, co-founded by groups in Australia; Canada; the United Kingdom; and the United States, awards grants each year to scientists and doctors who have projects working toward common goals.
- There is an annual Winds of Change family conference (this year it takes place in Chicago) that offers support and networking.
- Support is available for those with newly diagnosed children and everyone is invited to become an advocate to end Batten Disease.
We hold everyone living with Batten Disease and their families, in our hearts.
Thank you WFF… I wasn’t familiar with this topic, and this information can help many people 🙏💖🙏