BATTENS DISEASE

Today was not to busy really. Very quiet early on with the afternoon picking up.

One of the calls was to a patient with Battens Disease. I had no idea what this was so looked it up a minute ago. Apparently only about 500 people in the world have this particular genetic disorder. A gene has to be inherited from BOTH parents and then there's a 25% chance of developing the disease.

Basically the body can't absorb certain enzymes/fats leading to various symptoms including seizures, blindness and it destroys the cells in the brain. The patient was having a seizure. This seizure lasted 30 minutes before we arrived, despite medication. Prolonged seizures like this is called status epilepticus.

We gave her some Diazamuls to try and stop the seizure then grabbed her and ran. You don't hang around in this situation. Her airway was secured with a small oropharangeal airway (a small tube to hold the tongue away from the wind pipe) and an oxygen mask was put on. The seizure continued the whole journey in. There was saliva in her mouth so suction was necessary at times during the very fast trip. By the time we arrived at the pre-alerted hospital the seizure had been ongoing for an hour.

The doctors were intubating her when we left and giving other medication to try and stop the fit.

She was only four years old. I hope that she's OK. I'll think about this wee girl for a long time.