What Is Batten Disease? 3 Children Die In 3 Days Of Rare Condition

A couple from Springville, Utah, witnessed the simultaneous deaths of their three children from a rare disorder that affects the nervous system at an early age. Batten disease, an unusual neurological disorder, claimed the lives of Les and Celeste Chappell's children, The Washington Post reported Wednesday.

Batten disease is inherited from birth, with early symptoms appearing at the ages of 5 and 10 years old. The Chappell children — Christopher, 20, Elizabeth, 19, and James, 15 — had suffered from Batten disease for several years. The medical condition affected the children's ability to move, swallow and remember.

The Chappells placed their children on life support but were well aware that death was inevitable. The couple was faced a difficult decision: Keep their suffering children alive on feeding tubes or allow them to die.

Three hospital beds took over the Chappell family's living room. Morphine and lorazepam, sedatives used to manage seizures, were administered to the children for their comfort. Saying a prayer before halting the feeding tubes, they watched as each child die one by one.

The couple was initially told by a hospice team that the children could potentially hold on for days, even weeks, the Washington Post reported. The Chapell children, however, died rather quickly. A funeral service was held the following day.

Early signs of the disease can appear subtly, which often materialize into personality and behavioral changes, according to the National Institue of Neurological Disorders and Stroke (NINDS). It can be inherited by a child if an individual receives two copies of the gene.

Loss of vision is typically the initial indicator of the condition. An eye examination can be used to diagnose Batten disease. Neurologists will also perform a series of laboratory examinations. Blood tests, skin or tissue sampling, urine tests and DNA analyses are among a series of diagnostic tests used to determine Batten disease.

Children who have a sibling affected by the disease reportedly have a 25 percent chance at acquiring it, according to the Brain Foundation. The sibling could also have a 50 percent chance of being an unaffected carrier, or a 25 percent chance of being an unaffected, non-carrier.

Batten disease is commonly used to make reference to all forms of Neuronal Ceroid Lipofuscinoses (NCL). It's the most common version of NCLs. The are four other main variants of NCLs, including congenital NCL, infantile NCL (INCL or Santavuori-Haltia disease), late infantile NCL (LINCL or Jansky-Bielschowsky disease) and adult NCL (ANCL, Kufs disease or Parry’s disease).

The Food & Drug Administration (FDA) approved the first-ever treatment that could aid Batten disease sufferers in April 2017. The treatment, Brineura, would be able to slow the loss of walking ability in Batten patients. This treatment is meant to benefit patients 3-years-old and older with late infantile neuronal ceroid.

"The FDA is committed to approving new and innovative therapies for patients with rare diseases, particularly where there are no approved treatment options," Julie Beitz, M.D., director of the Office of Drug Evaluation III in the FDA’s Center for Drug Evaluation and Research, said in a press release April 2017. "Approving the first drug for the treatment of this form of Batten disease is an important advance for patients suffering with this condition."