This is our son Roman, who is now 7 months old and has x-linked myotubular myopathy.
My pregnancy was totally normal but I didn’t feel Roman move much and they told me that was probably normal because I had an ‘anterior placenta‘ (which is when the position of the placenta is at the front wall of your womb, at your belly side). Now I know that wasn’t the case, but the lack of movement was because my baby had muscle weakness. The midwives also said that Roman was a big baby, but it turned out he wasn’t – he was actually born at just 5lbs 13oz. My pregnancy bump measured ‘large for dates’ and it turned out that I had 2 and a half litres of fluid in my womb because Roman was unable to swallow it, again due to his muscle weakness.
Since Roman was born, he has only ever been home for 2 days. He spent 6 weeks following his birth in Telford ICU and Neonatal Unit because he was born floppy. At birth, he took one breath and then it took him 9 minutes to start breathing again. He has had many episodes where he has needed resuscitation and help to start breathing like this. Roman has a lot of problems with his airways and moving and he has a lot of secretions which he cannot manage himself, so he has to have regular suction to keep his airways clear.
So far, Roman has had numerous blood tests, a muscle biopsy, MRI scans to find a diagnosis, blood tests to check for infections and a bronchoscopy to look down into his airways and clear them out.
As his airways have been so difficult to manage, with times when he is very poorly, he has stayed in Stoke Hospital since he was 6 weeks old. Roman is now on a ventilator overnight through a tracheostomy tube, which he had put in this January. We have had his diagnosis now too, which we know is myotubular myopathy type 1 (MTM1 or x-linked myotubular myopathy). It is known to be the most severe form, but non-progressive. As a result of his condition, we know he will likely have a short life expectancy. Because myotubular myopathy causes muscle weakness, we know that Roman will never walk and is more than likely never to talk, as his voice box was closed at birth.
Roman has two big sisters, Mercedes and Winter-Rae, who really miss him not being at home and not living the normal family life they are used to. It’s our aim to get him home from hospital soon so we can be together as a family.