Batten Disease

People often tell me that it must be rewarding to perform my clinical work with children. It can be. Working with children, however, had meant that I had to leave my armour at the door. Children have a surprisingly good instinct to ferret out deception, so for me, that had meant having an open door in my heart. They had to trust me, so that they would let me interfere with their lives.

Humour was often the only protection that I had to guard against this open doorway. When it came to cases of child abuse, there was anger, but only when I had left the building, strapped on my armour and beat the stuffing out of my twice-taped punching bag. Sometimes, however, humour and anger is not enough.

One day, a 3-year boy and his father walked into my clinic. The boy had started tripping occasionally over things and had become atypically fatigued during play. However, he seemed bright enough, and I sent him on his way while my clinical team did their work behind the scenes. I saw the father and son a few more times as follow-up. The diagnosis, when it came, via genetic testing was not positive. The boy had Batten Disease.

The name Batten Disease brings the taste of ashes to my mouth. It is an incurable disease with a wide range of onset and progression. But there are always neurological impairments. Unfortunately, the boy had the CLN2 version of the disease. The Batten Disease Support & Research Association (BDSRA) described the progression as following:

Children are healthy and develop normally for the first few years of life. Towards the end of the second year, developmental progress may start to slow down. Some children are slow to talk. The first definite sign of the disease is usually epilepsy. Seizures may be drops, vacant spells or motor seizures with violent jerking of the limbs and loss of consciousness. Seizures may be controlled by medicines for several months but always recur, becoming difficult to control. Children tend to become unsteady on their feet with frequent falls and gradually skills such as walking, playing and speech are lost. Children become less able, and increasingly dependent.

By 4–5 years the children usually have myoclonic jerks of their limbs and head nods. They may have difficulties sleeping and become distressed around this time, often for no obvious reason. Vision is gradually lost.

By the age of 6 years, most will be completely dependent on families and careers for all of their daily needs. They may need a feeding tube and their arms and legs may become stiff. Some children get frequent chest infections. Death usually occurs between the ages of 6 and 12 years (but occasionally later).

I visited the boy and his father every few weeks for several years. Life shrunk down to the size of the house, then even further to the confines of a hospital bed. It was particularly sad when his beautiful curls had to be cut off, to keep them from tangling in his tubes.

He did not last beyond 6 years. Neither did his sibling, a few years later. Their passing broke something in everyone that had worked with the family. The pain of the memory still stirs, unblemished in me.

In any case, I hope this brief story will alter your perspective, at least for a while. As one of my fellow writers had recently written, be kind. Life is hard enough.

If you get the chance, please donate to your local Batten Disease organisation if there is one; or alternatively, give some love to your local children’s hospital.

You can also find additional information on the disease on

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