Zak presented as a "floppy" baby - and was as limp as a ragdoll. Because he had difficulty coping with his secretions and was having trouble breathing he was admitted to SCBU where he spent the first 3 weeks of his life. He never required ventilation. He was given hundreds of test for numerous conditions - all of which came back as "normal". It was a real mystery to the medics and they put it down to "benign hypotonia". After four fairly serious episodes of pneumonia and left lung collapse and still a big query as to what was exactly wrong with Zak, it was decided that Zak should have a muscle biopsy at 6 months. Following this, he was diagnosed with "Myotubular Myopathy", but at that stage and in view of his good progress since birth, the medics weren't too sure whether he had the milder "recessive" form or a mild version of the more severe "x-linked" version. At 2 years of age, after extensive DNA testing at Cardiff, Zak was confirmed as having the "x-linked" form of the condition.

Zak's milestones were very encouraging - he was sitting at 7 months, standing at 11 months and walking unaided at 22 months. He started to climb the stairs with the help of a stair rail at 2 years 4 months. His neck muscles are still particularly weak and at 4 years of age he needed to roll from his back onto his his side or onto his tummy in order to get up to sitting. He still cannot get from sitting to standing independently or unless he pulls himself up against a chair and, likewise, he cannot get himself down to floor level unless he throws himself against a chair or "collapses" onto the floor. He used to fall over quite a bit when walking but now he is older he is walking with more confidence and falling less. He can now ride a special low-gear bike and can swim with water wings. For longer distances Zak uses a major buggy.

For the first 20 months of life, Zak was suctioned on a daily basis, but then this gradually became only when he had a cold, and was gratefully replaced by a nebuliser. At the first sign of a cold Zak needs to be nebulised and given chest percussion up to 4 times a day to keep his lungs clear. In view of the 7 episodes of left lung collapse and pneumonia that he has had since birth, Zak has a daily dose of antibiotics to keep bugs at bay. These are usually increased when he has a cold or chest infection. He also has every vaccination there is going!! Zak had chicken-pox at age 3 and this, surprisingly, knocked him back for a while. Unfortunately it was too late for him to have an antedote, but instead he was given a very expensive anti-viral drug which helped. He lost mobility at this time and it took at least 2 months to get him back on his feet and walking again. If not kept on their feet during periods of illness, children with muscle weakness can quickly lose muscle power.

Zak is under his local hospital for acute / general care and The Hammersmith Hospital in London for specialist care. Dr Francesco Muntoni (Reader in Paediatric Neurology) is a UK specialist in Myotubular Myopathy. Many of the UK MTM children are under his care and like Zak, they too see consultants at their local hospitals. Zak see's Dr Muntoni and a whole army of other experts four times a year. At The Hammersmith he has been monitored for swallowing and for night-time hypoventilation.

Zak now does extremely well and has now won an award for his outstanding educational achievements from the Buckinghamshire Lifelong Learning Partnership (the under 7's category) and £100, most of which he squandered on James Bond cars and toys!!