Tyneside baby diagnosed with rare form of epilepsy endures up to 50 seizures a day

26th May 2020

When Catherine Holliday of Forest Hall, Tyneside noticed her newborn son, Paddy was making strange movements and hadn’t smiled at nearly six weeks old, little did she know that he was about to be diagnosed with an incredibly rare form of epilepsy. 

The youngster was initially diagnosed with a milk allergy, but he continued to scream for up to 15 hours a day even after being put on a special milk. After reaching a “breaking point”, Catherine took him to Accident & Emergency and requested that the doctors and nurses examined and assessed him again.  

Paddy was eventually diagnosed with KCNT1, a rare form of epilepsy that leaves children severely disabled. Paddy is now 10 month old and still behaves much like a newborn, devastatingly, he may never walk or talk. Paddy also has visual impairment. Sadly, it’s also unlikely that Paddy will live past 10 years old and will have severe development and learning difficulties throughout his short life. 

Paddy was discharged from hospital with four anti-epileptic medications (AEDs). The effect of all of this has left the family on what they describe as “the rockiest road possible”. 

Catherine commented: “He’s 10 months old now and he can’t do anything, because the gene causes other problems such as Global Developmental Delay and visual impairment. Watching him have seizures doesn’t get any easier because he gets so upset afterwards.”

“We’ve also found out from a support group that 95% of these children don’t walk or talk and the life expectancy is not great. There’s some children that are eight or nine but some don’t live past two or three.”

“The research into this gene is only in America and we are hoping by fundraising through Epilepsy Action they will start to research the gene in the UK. We live in hope that one day there will be some kind of treatment that can help our child live a seizure free life.”

What is KCNT1? 

KCNT1 is an incredibly mysterious form of epilepsy of which very little is currently known. KCNT1 variants are described as causing a very rare, but equally catastrophic childhood epilepsy. KCNT1 variants have been identified in patients presenting with other early-onset epileptic encephalopathies, including West syndrome and Ohtahara syndrome