Featured Article
Every 3rd month we will feature an article written by those who have a story to share about their diagnosis or by a professional who can tell us about the important work that they do.
We would like to welcome Claire who has written about her beautiful daughter, Ella who has a very rare condition called Non-ketotic hyperglycinemia (NKH).
It is NKH awareness day on the 2nd May but it is also Claire and Ella's birthday this month. Happy birthday to you both.
It is extremely rare for a child with a diagnosis of NKH to live pass 21 years of age. Ella will be 23 on the 11th May. I personally know this family very well and I can honestly say throughout Ella's life they have filled it with love, laughter, hope and Strictly Come Dancing!
To find out more about NKH or get advice and support there is link to the foundation for NKH at the end of Claires article. I've read a lot of what is on their website and it is extremely interesting.
Ella was born at the Royal Hampshire County Hospital in Winchester on the 11th May 2003.
Ella is our first child and we were excited for her pending arrival after moving to Andover and our first house six weeks before she was born.
Ella was born after a very long and painful, 27 hour labour. She was a beauty at first sight. Our baby girl, was a surprise as we didn’t want to know the sex. She had a mass of dark hair and rosebud lips, we were thrilled with our daughter. What we didn’t know then, was that she was very poorly and we put her sleepiness down to the long labour and me having every pain relief available! I was aware that Ella wasn’t crying like the other babies on the ward and it was picked up by the registrar when checks were being done before our discharge. This was the start of four of the longest weeks of our life; Ella being taken to the Special Care Baby Unit at the hospital.
Dave and I had to wait in a side room for many long hours whilst the doctors did tests on Ella, including a lumbar puncture for meningitis. When we were finally reunited with Ella, we were given a Polaroid picture and a tiny foot print of hers. Doctors were baffled by this full term baby who was floppy and lethargic and nurses were preparing us for the worst. It was torture. The worst pain was not helped as we stayed on the maternity ward to be close to her and watching the happiness of people having their babies and then leaving with them in their car seats with ‘Welcome Baby’ balloon attached. There was one day when Ella was in special care that I didn’t visit her or sit by her cot side as I needed time to try and process the baby I had been given.
We finally took Ella home after four weeks of being by her side everyday, learning from tests done in this time, that she was brain damaged and most probably blind and the little twitches she was having, were seizures. Ella was discharged without a diagnosis for her brain damage, but four months later we were called back to the hospital with her, for her to have another lumbar puncture. This time, they were testing for a rare condition called Non-Ketotic Hyperglycinemia or NKH for short. We were told to not Google the prognosis and of course we did. We had the results back after four days and NKH was confirmed. We were told that most babies born with the condition don’t survive the neonatal phase, her life expectancy would be five years and she would definitely not reach double figures. Ella had inherited a faulty gene, the same one that both Dave and I had and a fluke that we had passed it on to Ella. The faulty gene doesn’t affect us, but it meant that Ella can’t break down chemical glycine (amino acid) which causes her brain damage and many seizures.
In the four months of nurturing and getting to know Ella at home, I was able to say on the day of her diagnosis, that I knew she wasn’t blind. We knew this as we had seen her following light and she had very good hearing and would startle at every loud noise. I also said to the Paediatrician that day that Ella wasn’t going to die anytime soon, as I could feel her strength and determination to survive. From the weak cry or no crying in her early days, she was certainly letting us know when she was unhappy or hungry and we started to wean her at four months old. Ella was showing signs that she was hungry and was able to take very small mouthfuls of baby porridge from a spoon and with a supportive feeding chair to keep her floppy head from falling.
22 years on, Ella is the oldest known surviving person in the UK with NKH, with around 50,000 cases only, around the world.
Although Ella is described as having severe global developmental delay, she has had 19 years in education, starting at Icknield School, Andover in 2006 and finishing her secondary education at Treloar College, Alton in 2025.
Ella has been nurtured, loved beyond measure and has received the best care throughout her life. She has survived many surgeries, including correction for severe scoliosis and hip dysplasia. As well as school and college, we have been supported by community nurses, doctors, physio, Occupational Therapy, Speech and Language therapy, Great Ormond Street Hospital, Naomi House & Jacks Place and many charities that have fundraised for Ella to have the equipment she has has needed to live her best and most comfortable life.
Dave and I were lucky enough to have a healthy brother for Ella and between us, we have fought for Ella to be part of the world we live in. We are her voice, her safety and her biggest supporters. Ella is non verbal, but it doesn’t mean she can’t hear or understand what is being said. We believe and practice positive communication. We talk to Ella as we do anyone else and she communicates to us by her amazing smile, her claps, her vocal sounds and real tears when she is in pain.
Ella now lives in a residential placement Monday to Friday and we have the pleasure of her company at the weekend and family holidays. She continues to grace our lives with her smiles, her love of leopard print and the colour pink and her enjoyment of music amongst many other attributes.
