Elliot early days and diagnosis

Elliot is 4 years old and has type D. He is a very unique case of Molybdenum Co-Factor Deficiency.

Early days and diagnosis

Elliot was diagnosed at 3 days old. When he was born he was unresponsive and he needed help to get himself breathing. We had a really traumatic labour that was extremely fast and scary. A few hours after he was born he started doing these jerky movements, not having seizures, just the startle reflex was very prominent. He didn't want to feed and I was trying to breastfeed him as I had done with my other children and he was different from the very beginning.

The doctors didn't think there was anything wrong initially. They said that maybe he had an infection and they were going to send him over to neonatal as mum had Strep B. They wanted to get him checked and some get some blood tests and everything done. 

We got kept in from then, we stayed in neonatal. When he was 2 days old we got transferred to Sheffield Childrens as we were told they had found something. We weren't told what it was - just that they had found something. So we went ahead to the Metabolic Unit there. The Metabolic ward did more bloods, sent thigs off to get tested. 

We got called into a room when he was 3 days old. I will never forget it. It was the evening. It was the consultant that we still see now at Sheffield. He said that he had been diagnosed with Molybdenum Co Factor Deficiency and that his life expectancy was 14 weeks due to the fact that there was no treatment. 

At this point the trial that was originally going on with the Cpmp had just closed two days previous to Elliot being born. So we were on that cusp of not knowing whether or not we would get the medication. The consultant told us that he wouldn't be eligible for it. 

In the evening of the 15th September we suddenly got rushed into a room. I rang my partner and said we've been offered the treatment, we need to go to Manchester. It was just this whirlwind of emotions that we were being given a chance. 

Elliot had been nil by mouth since just after he was born. He was on a glucose drip. Obviously I tried to breastfeed at the very beginning so I was expressing. It was just awful.

So off we went to Manchester and it was a complete rollercoaster of emotions. My husband was at home with the other children at that point Elliot's sister Alice was only 14 months old herself. It was just - "what am I going to do if this doesn't work?" 

We were lucky that it did work and there was a noticeable difference within 24 hours. 

When we arrived at Manchester Elliot was screaming and they said that it would be because he was having horrendous headaches. When I say screaming I mean screaming. There was no consoling him. Within 24 hours he was settled. 

You are able to hold him like a normal new born. Yes he had lots of wires and things were being monitored but it was like having a normal new born again. It was the most amazing thing ever. 

 We stayed in hospital at Manchester for quite a while. He had a central line fitted when he was just over a week old. They made sure that he was stable and everything. He had his first bath at Manchester Children's Hospital and everyone there was just just absolutely amazing and I cannot fault any of the help, support, medical treatment or anything because I am just so thankful for them.