Marie and John live in Ireland; Marie is diagnosed with MTM and the couple have lost three sons to the condition. Nathan was born in 2000 and lived for16 days, Sean was born in 2004 and lived for 31 days and Alex was born on Christmas day 2008, living for just 20 minutes – this is their story.
Nathan was born on 28th October 2000, six weeks early by c section. He was rushed straight to Pbu which at the time was fine as me and my husband John understood this would happen. When John was finally let see Nathan he arrived back with a picture of him and a face as white as a ghost but told me he was fine and as I looked at the picture of my baby, I was in love with him more than you could imagine. When I finally I saw him I knew straight away something was wrong and the doctors sat us down and explained that he was a very floppy baby and he couldn’t breathe without the ventilator and that basically they hadn’t a clue what was up. So he was transferred when he was 5 days old to Crumlin Children’ Hospital in Dublin, which is a 3 hour drive away but we stayed in parents accommodation in there.
It took many tests and was 3 days before we got results to confirm X Linked MTM. It was the first case they had ever dealt with. So from there on in it was touch and go with Nathan. We made it back to Pbu in our own hospital a week after leaving for Dublin and Nathan passed away peacefully at 3.30 am on 14th November 2000 in my arms. After Nathan died I too was checked for MTM which in turn came back that I had a mild form of it which did not shock me as I had trouble running and climbing stairs, which until then everyone, including me had put down to laziness.
After four years we were pregnant again with another boy and I was closely monitored throughout my pregnancy. We were told it was likely this boy too would have MTM, as I had a lot of fluid around the baby and what they called lack of movement. Of course I didn’t believe that, as I felt I had a lot of movement.
My waters broke on 7th October 2004 at 31 weeks and Baby Sean was born at 8.05am. He was not responding well and after a two second cuddle he was up to Pbu. So up we travelled an hour later to see my beautiful boy; he looked just like his brother, lovely dark hair and cute button nose like his daddy! He was stable and we were comfortable up there, as we knew the nurses from before who are absolute angels.
He presented the same signs as Nathan and was sent up to Crumlin but only for a day, to have a muscle biopsy as no surgeon in Galway had ever operated on such a premature baby before. The results came back positive that he too had X Linked MTM but our neurologist said it would have to come to us turning off the machine as he was stable. That was on Friday, on Monday morning we received a phone call to tell us to come in straight away, as he had taken a turn for the worst. Sean slipped away at 5.40am in my arms aged 31 days.
Little Alex was born Christmas day 2008 and to our absolute shock passed away after 20 minutes. He presented no signs of MTM through the pregnancy and up till the moment I had my section was still moving.