ABOUT BATTEN DISEASE: NEURONAL CEROID LIPOFUSCINOSES (NCLs)

Liam Heffernan and his older sister Saoirse both died from Batten Disease – an inherited rare and fatal neuro-degenerative disorder that affects babies, young children and juveniles. Named after the British neurologist Dr Frederick Eustace Batten who first described it in 1903, Batten Disease belongs to a group of disorders called neuronal ceroid lipofuscinoses (NCLs). Although Batten Disease is the juvenile form of NCL, most doctors describe all forms of NCL as Batten Disease.

Batten Disease is not contagious, but it is also not preventable. Only a small handful of KNOWN cases of Batten Disease have been recorded in Ireland. Batten Disease affects 2-3 of every 100,000 births in the UK and USA; 1 of every 12,500 births in Finland; and 1 of every 20,000 births in Norway & Sweden. There is as yet no known cure for Batten Disease. Because NCLs are the result of a defective gene, they can often strike more than one person in a family – as happened in the case of Saoirse and Liam Heffernan.
Early symptoms of Batten Disease are not easily recognised by medical personnel, and symptoms vary with each child. Typical symptomatology:

• Visual impairment often progressing to complete blindness
• Seizures, which may be frequent and difficult to control
• Decline in cognitive function
• Personality and behavioural changes
• Loss of communication skills
• Loss of fine and gross motor skills
• Abnormal body movements
• A general progressive deterioration

Other symptoms that may develop include:
• Slowing of head growth with age
• Poor circulation in lower extremities, legs and feet cold as well as bluish-red in colour
• Decreased body fat and muscle mass
• Curvature of the spine
• Hyperventilation and/or breath-holding spells
• Difficulty in swallowing and feeding
• Teeth grinding
• Constipation