26 August 2005 – 4 February 2006

Archie McInerney was born on the 26 August 2005 at 5.20 p.m. at Kings College London, five weeks earlier than expected. When he was born he didn’t really breathe and the Doctors gave him a helping hand for the first couple of minutes. He was immediately transferred to the Neonatal Intensive Care Unit and when the consultant spoke to us, she told us that he had been put onto a ventilator to keep his lungs inflated and that this was quite common in premature babies.


We then went to see our little baby and was shocked by the vast amount of equipment and monitors. The first few days we just thought Archie was early, they tried to take him off the ventilator a couple of times and he just did not tolerate it. It was at this point that the consultant made us aware that Archie seemed very floppy and that if this didn’t improve within a couple of days that they would need to get a Neurologist to take a look at him.These days passed, Archie did improve slightly but you could see from his movements and that of the other babies in the NICU that he wasn’t a normal baby. The Neurologist came to see Archie and us and we sat in a room that we affectionately nicknamed the ‘Room of Doom’. She told us that Archie’s respiratory problem and his floppiness (hypotonia) could be caused by lots of diseases, she mentioned Myasthenia, Prader Willi, SMA and Myotonic Dystrophy, she also mentioned Congenital Myopathies but mentioned that these were very rare. She suggested a clinical work up starting with an MRI Brain Scan, then an EMG, plus lots of DNA and blood tests.

A day or two after Archie went down for an MRI and when we got the results saying there was no damage we were ecstatic. Slowly the DNA tests started coming back, first SMA was ruled out, then Prader Willi, and finally Myotonic Distrophy. It was then suggested that Archie had an EMG done, by now Archie was starting to move a bit more and also was now opening his eyes, we were greatly encouraged by this, he was also extubated (taken off full ventilation) and put on CPAP which just helps with the breathing rather than doing it for him.

Sure enough Archie’s EMG appeared normal, once again I was very happy, but then I started to worry what exactly was wrong with my boy? The decision was made to have a skin and Muscle Biopsy performed, Archie was now eight weeks old and a mystery to the doctors. They wanted to do the biopsy earlier but given Archie’s frail state didn’t think it was a good idea, however Archie was now a little bit stronger so they scheduled him for the 17 October 2005. He went to theatre for this minor op and responded very well, coming back off the ventilator that same day, finally we were told that they would have the results on the 26 October 2005.

To say we were scared of the diagnosis is an understatement, finally at around 4 pm the doctors called us in to tell us that Archie had a very rare muscle disease called myotubular myopathy and that the outlook wasn’t great, our world fell apart.

Over the coming weeks our little boys personality start to shine through, he had such a sweet smile and a lovely nature. Archie was slowly getting stronger and a decision was made to perform a Nissens Fundoplication operation to help with his feeding, this was scheduled for Friday 13 January 2006, Archie however had other ideas and decided to get Pneumonia. Eventually he was well enough for the operation and on 27 January he went to surgery, all went well and Archie seemed to be going from strength to strength.

On Saturday 4 February 2006 Archie really seemed to be happy, he was smiling away at us all, however later in the day his heart slowed down and after 45 minutes of emergency treatment he slipped away from us.