Tracey with daughter Caroline Andrew and Tracey

My name is Tracey and I live in Ipswich, Suffolk. Twenty two years ago, on 16 February 1986, I had a little boy called Andrew at Ipswich Hospital, born at 33 weeks and very floppy and unable to breathe for himself. Six weeks later we went for 10 days to Great Ormond Street but they sent us home saying he was getting stronger and it may just take some time for him to get better. He came off the ventilator but was fed by NG tube and was put onto CPAP.

At nearly 3 months he had a muscle biopsy and on 24 May we were told heprobably wouldn't survive but they still were not certain what was wrong with him. We prepared to take him home, but unfortunately he died the night before he was due to be discharged.

Whilst grieving for Andrew I fell pregnant again and in August of 1986 after more testing and genetic counselling we were told that it was either Myotonic Dystrophy or Myotubular Myopathy that Andrew had had. With this knowledge I was told to abort the baby I was carrying and also that I would probably be affected by the time I was 30. Nine months to the day we lost Andrew, my daughter Caroline was born on 25 February 1987 and she currently is doing fine with no signs of Myotubular Myopathy.

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On 3 March 2008 I was admitted to hospital after having a really rough time of it for over 3 months. My O2 level was down to under 50% and my CO2 was 14. My doctor hadn't listened to me and had been treating me for Asthma when my system was poisoning itself because of my inablility to breathe properly and I was close to death. I was forced to wear a Bipap machine at night - it took the consultant telling me 'you either wear it or die' to force my hand.

I was in Ipswich for 3 weeks before being shipped off to Papworth for a week with the diagnosis of Obesity Hyperventilation Syndrome being made (my diaphragm doesn't work properly so I hyperventilate and build up CO2 during the day). At the same time the nurses noticed I was having trouble getting in and out of bed and up from chairs and also coping with stairs.

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Several tests for Myotonic Dystrophy ruled out this condition until finally in October last year my neurologist managed to track down Andrews old pathology reports from 3 months after his death. There in front of me was the cause of Andrew's death all those years ago - X-linked Myotubular Myopathy. It was like losing my son all over again.

I had the blood test in October straight after this consultation and on 8 January 2009 I received the letter I had been dreading confirming that I too had Myotubular Myopathy. I am still trying to come to terms with the fact that I have this and the uncertain future that lies ahead for not only myself and my husband who had just started to enjoy our lives on our own again, but also for my daughter who now faces the 3 month wait to find out if she or her children may also be affected in the future.

I have so many questions to have answered and would very much appreciate hearing from anyone who like me has had this double blow or found out they have MTM late in life.