Superman Elliot’s fight against Non Ketotic Hyperglycinemia (NKH)

Elliot Paul Silveri was born with a rare genetic disorder called Non Ketotic Hyperglycinemia (NKH). There is no cure and the outcomes even if considered a mild form of the disorder are still overwhelming.  Elliot was born in Rockhampton base hospital on the 22nd March 2016.

After a few complications during an induced labor little Elliot was brought into the world at 9:26pm with a faint single cry. Little did Michael and I know that the rest of the family would not hear his cry for the next month.  His first feed had to be syringed into his mouth but he was still sent home the very next day. Over the following days I became more and more stressed over Elliot. He was incredibly sleepy and when he did open his eyes they appeared to be rolling back, he was so floppy. Elliot is my 5th child I knew and felt something was wrong. It is one thing to have a large sleepy baby but he wasn’t waking up much at all, not during his bath or to eat and he hadn’t cried since he was born.

Like many other NKH parents stories I was told by the visiting nurse that he was just sleepy and hasn’t learnt what to do yet, he was recovering from a stressful birth. I was convinced that I was over-reacting told to continue daily routine. Until Elliot started to ‘flinch’. These jerking movements quickly developed into more severe and obvious seizures. My heart sank. I knew all along.  Elliot was 6 days old when Michael took him to the ED at Rockhampton base hospital. He was transferred straight to the Lady Cilento Hospital in Brisbane, where he remained for the following 3 weeks.

The first 2 weeks were full of tests trying to find out what was wrong with Elliot. They found a staff infection along with an enterovirus infection on his brain Elliot was in a fully sedated state to control the seizures. But when the treatment of these did not appear to be helping more and more tests were performed. Blood tests, MRI’s, EEG’s and two lumbar punctures after every test they could do. Doctor’s returned and told Michael and I the heartbreaking news. That they were 99.9% Elliot’s diagnosis was (NKH) nonketotic hypyerglycinemia. We did not have any idea what NKH was, but as they explained what that meant our world was slowly crashing with each word.

I went numb I didn’t know how to react. I was hurt and felt a shattering pain in my heart. I have never felt a pain worse in my life as I felt in that moment, I saw Michael’s face and knew he was feeling the exact same way.  The doctors informed us they could only try treat Elliot will medication that may help him, or it may be too late they did not know. They just kept telling us it’s up to Elliot to show us how strong he is. Giving up on Elliot never crossed our minds. Nor did it cross any of the Doctor’s at Lady Cilento they were ready to start the treatment as soon as possible.

So treatment was started, superman’s battle with NKH had only just begun. Each time the doctors came to see us NKH was becoming a little more understandable, being told most NKH babies die, not many make it out of PICU. The first weeks of Elliot’s life I was living every minute in fear. Not knowing whether Elliot was going to survive, scared I may have to let go and say goodbye. Three little words breaking and tearing your insides up NKH, INCURABLE, TERMINAL.

A few days after the NKH treatment Elliot was showing signs of improvement. He was fighter, the seizures slowed down then eventually stopped, he opened his beautiful blue eye’s waking in short periods. Superman Elliot just kept going, the following week he started drinking from a bottle, not every feed and only around half of what he required. This was a huge effort for Elliot and made him very tired but it was something. More little improvement started, he was moving his little arms and legs and was beginning to wake up for longer.  As these little improvements continued the doctors became confident in their diagnosis and were incredibly happy with how well he had reacted to the medication. He surprised them all they decided that there was nothing more they could do that couldn’t be done back home in Rockhampton.

Our Superman is on a concoction of medication, these medications keep him alive, they keep Elliot here with us. You learn never to take your little superman for granted. He is the strongest person I know. Our Superman is an inspiration. We cherish every second we have Elliot, NKH superhero’s inspire, love, fight, succeed, amaze you and try conquer every obstacle that gets thrown in their way. You see how hard they fight to keep going and eventually you accept it. You educate yourself about it. You deal with it. You confront it. You challenge it. You fight for your child, and by their side simply because you believe.

Thank you everyone who took the time to read Elliot’s story. Elliot is our little superman, stronger then we could have ever imagined him to be.  Please consider making a donation to the NKH Crusaders they support a Genetics and Inherited Metabolic Disease specalist Doctor in Colorado. Dr. Johan Van Hove who has dedicated his whole career to NKH and trying to find a cure. Give Dr. Van Hove his best chance at beating this rare condition. Even if you just like, follow and share the NKH crusaders page. Elliot also has his own page we would love you to like, share and follow Superman Elliot’s NKH Fight.

Your kindness and support really does mean the world to us, thank you.