Dylan

MMA, Cbl C

Dylan was born on the 14th July 2009 and everything was fine.  Here was our perfect little son that we had waited nine months for and it was the most wonderful day of our lives and we couldn’t wait to get him home to start our new life as a family.  Little did we know what was in store for us and that it would be 3 months before we got to finally bring him home, and that after having the best day of our lives we were soon to experience the worst day.

Dylan was alert and cried and slept like any little baby does but from the start he didn’t feed very well, he would latch on but not sustain feeding for any length of time.  Although this caused us much distress, we had plenty of reassurances that this was quite common, especially since Dylan developed jaundice his lethargy and poor feeding was probably caused by this.  We had to transfer to the neonatal ICU for IV fluids but when Dylan was 9 days old they finally let us home as he had fed well all through the previous day and night.  Unfortunately he quickly deteriorated when we got home becoming lethargic again and impossible to feed, and as his bilirubin went up again we had to take him back to hospital.

Still we had lots of reassurances from the medical team that this was probably just the jaundice, but we suspected some thing much more was wrong as he developed strange eye movements, a wandering gaze and posturing of the mouth around the time we went back into hospital and kept querying this with the doctors, but we had to wait two weeks before a neurologist saw Dylan after he had an MRI scan.  Although this scan was clear (as were all the other numerous tests he had had over the previous weeks and as each test came back clear all everyone would be pleased but we knew as each test passed that we were getting into more serious territory.), apart from some cysts which they believed to be temporary, Dylan was getting worse day by day, becoming more lethargic and floppy and requiring more tube top ups.

Dylan had an EEG on the 10th August.  That evening when we returned from having dinner I could see one of the consultants talking to a nurse outside our room and I just knew they were talking about us and it wasn’t good.  They took us down to the parents’ room and told us Dylan’s EEG was abnormal and he had encephalopathy.  We were told Dylan was having hundreds of seizures and they didn’t know why at this stage and might never know why but the next stage would be more tests to see if they could find a reason.  We were told he wouldn’t lead a normal life and that a third of babies die because they can’t cope with the seizures.  We were too stunned to ask any more questions and they left us alone.  All we could do was hold each other and cry and I know we both will never forget the despair we felt.  How could this be happening to us?  How could this be happening to our beautiful baby who has just come into the world and has done nothing wrong to deserve this?

Two days later the neurology team eventually came to see Dylan and we were now being told he wasn’t having seizures but that his EEG showed slower than normal brain activity and they thought perhaps the eye movements and posturing were maybe just involuntary movements.  They didn’t know the cause of the encephalopathy but we would start a series of tests to see if a diagnosis could be made.

We moved to the neurology ward and a few days later the neurologist told us they had a possible diagnosis – his urine showed high levels of methlymalonic acid indicating MMA (and a few days later we discovered he also had high levels of homocysteine indicating cobalamin C).  He told us not to Google it as it would only be bad news but as far as we were concerned nothing could be worse than what we were told on so of course started trying to learn as much as we could as fast as we could and of course discovered how rare his condition is and also how similar other families experiences were to ours.  Getting a diagnosis was almost a relief, at least we knew what was causing his encephalopathy so we had some parameters to work within although as we have since learnt, this condition has affected so many children in so many different ways and as we have heard so many times Dylan will be a ‘wait and see’ child for quite some time.

We finally got Dylan home when he was almost three months old, after a short stint in PICU just after he got diagnosed as his condition deteriorated requiring him to be on a ventilator and he needed two blood transfusions as well.  We also have since learnt that he has bullseye maculopathy and some optic nerve damage and so we have to wait and see how his sight will be.

Dylan is now 4 ½ months old and is doing really well.  He has continuously put on weight and is steadily growing and the metabolic team are really pleased with is progress both clinically and developmentally – as are we!   He is bottle fed with no protein restriction at the minute, and apart from a bit of reflux he feeds well.  He is a little angel and his smile just melts our hearts.  We don’t know what the future holds for Dylan, but no matter what that is, he is our wee man, our pride and joy, and we will do everything we can to help him maximise his potential.  Of course, this is not what we planned when we had all our dreams about his future.  No-one wants or expects something like this to happen to them or their child but we love him to bits and can’t imagine life without him and nothing could ever change that.

Siobhan & Mirko D’Angelo
Belfast, Co Antrim
BT6 8PD United Kingdom
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From the December 2009 OAA Newsletter