Sofia was born on 27th June 2019 via cesarean. It was noticed, while in the recovery room, that Sofia was jerking her leg. After being checked over, we were told it was just a side effect of low blood sugars.
We stayed in hospital on the transitional ward for 3 nights. During this time, midwives raised their concerns over Sofia’s eye rolling. Again, after being checked over by three different pediatricians, we were told she was fine.
During our first few days at home in Newton Aycliffe, our community midwife also became concerned about Sofia’s eye movement. She was also still occasionally jerking her leg so I decided to take Sofia to the hospital to get her checked over. She had a blood test and we were told to video any jerkiness and eye rolling and come back in 4 days.
I managed to capture her jerking, this time it was both of her arms.
We presented the video to the Doctors at the Hospital and were told Sofia had Benign Infantile Myoclonus. This is a non serious spasming of the limbs when tired. We were told she would grow out of it in six months time and to keep an eye on it.
Two weeks later, when Sofia was two months old, we noticed that the innocent looking jerks had turned into something more aggressive. Her entire body would stiffen and her eyes would roll at the same time. These appeared in clusters. We took her straight to A&E where she was diagnosed with Epilepsy instead of Benign Infantile Myoclonus.
We stayed in hospital and had an MMR and an EEG and were sent home with anti seizure medication.
After another three hospital admissions over the course of five weeks we were eventually transferred to a Children’s Hospital to be under the care of a pediatrician neurologist. We stayed here for three weeks.
After more tests including another EEG, ECG, blood test and a Lumbar Puncture, it was discovered that Sofia actually had an extremely rare disease called Non-Ketotic Hyperglycinemia (NKH for short).
NKH is a rare, life-limiting inherited disease characterised by accumulation of excess glycine in the body.
Affected infants suffer epilepsy and profound delay in development and NKH is often fatal in early childhood. Approximately 1:76000 children get NKH. There is believed to be around 500 children worldwide currently with the condition.
Myself and a team of family and friends are starting our fundraising journey by taking part in the Boxing Day Dip. We will be braving the freezing temperatures of the North Sea to raise money for a charity called Josephs Goal.
This charity raises vital funds for Prof. Nicolas Greene and his team at UCL for their NKH research studies.
Please give what you can and help our baby and her NKH friends worldwide.
www.justgiving.com/sofiachurchmannkh
