What is PCDH19 epilepsy? Six-year-old boy needs cannabis to treat rare form of seizure

A mother from Kenilworth, Warwickshire, has urged the National Health Service (NHS) to give her six-year-old son cannabis as he is suffering from a rare condition which causes him to suffer up to 30 fits a day.

Alfie Dingley is said to be the only boy in Britain to suffer from a form of epilepsy known as PCDH19 which is caused by a genetic mutation.

According to Hannah Deacon, her son suffered the first attack when he was just eight months old. As he kept growing, the seizures kept multiplying.

"You get woken up in the middle of the night by a terrible scream. They come in clusters – between 20 and 30 seizures a day for up to five days at a time," Deacon was quoted as saying by the Daily Mail.

The 38-year-old mother said she had found a doctor in Holland who was willing to prescribe cannabis oil and hence they shifted there in September 2017.

"Nothing short of a miracle," Deacon said as the medication brought the boy's seizures down to about one a month.

Deacon, a hairdresser, said as they were running out of money, they had to shift back to Britain. However, after shifting, the medication could not be continued as the drug is illegal in the country.

Deacon said: "We have proved this treatment is successful for him. This is a child's life and health. We need this treatment desperately."

Baroness Meacher, chair of the All-Party Parliamentary Group for Drugs Reform, told the Daily Mail: "It is scandalous that a six-year-old boy is prevented from having the medicine that can transform his life."

However, the Home Office on Saturday night (17 February) said it would not issue a licence for the personal consumption of a "Schedule 1 drug" such as cannabis.

Deacon has now created a Facebook page called as "Alfie's Hope" to help support her son's medication.

What is PCDH19 epilepsy?

This rare condition is characterised by brief recurrent seizure clusters. PCDH19 was initially identified as the causative gene in 2008 and by 2015, more than 140 patients were reported, Epilepsy Genetics reported.

The condition affects females more than males. The first clinically described epilepsy was discovered in the early 1970s in families with girls affected by epilepsy.

Seizures

According to Epilepsy Genetics, seizures usually occur when a child is between 3 months and 3 years old.

The seizures tend to occur in clusters in the beginning and can vary a lot. Some of them last from days to weeks.

The seizures are said to be difficult to control and they usually need many anticonvulsant medications to treat and control.