Our daughter, Eleni, was born in 2019. It was an uneventful pregnancy and the birth was a straight forward elective csection. 24 hours after we were sent home. Even though we thought it was a bit quick to be going home after major surgery, Eleni had all her newborn checks and passed them with flying colours so we were happy to leave.
At 3 days old we were concerned about Eleni, she was becoming floppy and feeding less. Luckily the midwife came that morning and advised we took her in as she was probably just dehydrated and blood sugars may be low due to lack of milk.
We got to Northampton General Hospital and I was sat holding and trying to feed Eleni when a doctor walked past and stopped in his tracks and ran over, he took her off my lap, put her on the bed and pressed the emergency button. The next thing we know she had a mask over her mouth and is being bagged to help her breathe. Her respiratory rate was 4 breaths per minute, when a baby should be at around 30-50.
Eleni was intubated and put on a ventilator as she stopped breathing on her own, and due to this we had to be transferred to Leicester Royal Infirmary’s children's intensive care. Test after test doctors were struggling to find what was wrong. After blood tests, MRI, lumbar punctures and EEGS Eleni’s diagnosis was clear. She had a rare metabolic disorder which was life limiting. We were advised to withdraw the life support as she just wasn’t breathing on her own and wouldn’t without the help either. So we made the tough decision to let our baby girl go.
The day came and all her family was surrounding her before we took the tube out. Everyone left to sit in the family room to wait for the inevitable, but Eleni had different Ideas. The tube came out and we CRIED and SOBBED, then Neil and I looked at each other, she was breathing, it was getting stronger by the second. Everyone was gobsmacked. Despite this revelation though we were still sent to a hospice for end of life care in which we spent 4 days before taking our amazing, ferocious, fighter of a daughter home.
Eleni was diagnosed with a rare metabolic condition Non ketotic Hyperglycinemia (NKH for short) NKH affects 1 child in every 76,000 born there are approximately 50 kids in the UK and 500 worldwide living with this condition.
Sadly the mortality rate for children born with NKH is high and many die before they make it out of toddlerhood. Those that survive are often extremely disabled with uncontrollable seizures.
Eleni is now 3 and is thriving as much as she can. She is beautiful and sassy and just has a pure beautiful soul !