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 has to do a lot of exercise to remain healthy and keep active. He enjoys horse-riding at Riding for The Disabled which is excellent for his balance, posture and not to mention his confidence! Since starting hydrotherapy his physical ability has improved dramatically and he has ‘muscled up’ no end. Apparently the water temperature being at a certain level helps work the muscles at their optimum level.
A few ‘complementary’ health programmes have been tried out too. Zak tried homeopathy a couple of times, which unfortunately didn’t seem to work for him. Also Zak saw a nutritionist who basically cut out half his diet/favourite foods which resulted in him losing weight – this was of course abandoned. (It’s important that Zak’s weight is kept up as much as possible to keep him healthy). Holistic massage was a good therapy and seemed to work pretty well. Zak enjoyed this no end!!
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!!
He was invited to attend a fantastic dinner and presentation with his big sister Sophie, mum Wendy and dad Simon – which they all really enjoyed, along with the other winners and their families.
Being the youngest winner, he was thoroughly indulged all evening!! His infant school headteacher had entered him because she, all the teachers and learning support assistants, were so impressed with his strong physical determination and high academic achievements, despite having physical limitations. Zak showed how, given the right encouragement, support and sympathy, a child with medical and physical problems can excel in a mainstream school environment.
For Wendy and Simon, the award was a very moving and momentus occasion as it made them realise how far Zak has come. He has and still continues to achieve so much in all respects since those frightening and worrying early years, when he was so weak and medically fragile.
Zak is a gorgeous, funny, very bright little boy and his family love him dearly. He has enriched their lives. His big sister has helped him no end and has been a good role model. She will encourage him to try everything that she can do! Zak’s family carry on in a positive vane – enjoying each day.