Living with MTM can be tough sometimes, not just personally but for my family too. But with so much research in the pipeline I feel that there’s more hope for a successful treatment than ever before.
As a family we enjoy some great experiences and I try not to let my muscle weakness get in the way of enjoying life and travelling or learning but I can’t help but dream about the possibilities of being more physically able one day. Even a little more strength than I currently have, would make a difference.
I also have a team of PAs who I employ under a personal health budget, and they help me live my day to day life the way I like and help give me independence.
In 2010, Zak’s mum wrote:
Zak is a typical 17 years old, but has x-linked myotubular myopathy ‘MTM’.
However, he is one of the lucky ones, born more mildly affected than many with the condition meaning that he never needed help with his breathing after birth nor in his early years; and he even managed to walk and ‘run’ (or walk fast) from the age of 3 until nearly his teens.
In spite of relatively good and strong respiratory function, Zak suffered significant numbers of colds and viruses as a fragile young baby (about every 3 weeks), resulting in 7 episodes of lung collapse and pneumonia before the age of 3 years. Thankfully, his lung function improved over the years, meaning we were able to stop the suctioning to clear his airways between ages of 2 and 3, and from about the age of 4 gave less and less ‘daily’ chest physio. By 8 years of age, we were finally able to stop giving him daily (rotational) prophylactic antibiotics. We now keep dry antibiotics at home to give at the first sign of any chest infection – which is rare these days. Zak started night-time ventilation via a bi-pap machine and nose mask when he was 14 because we discovered he was breathing very shallowly at night, and this caused him headaches in the morning and feeling ‘groggy’.
Becoming a teenager and some rapid growth proved to be a cruel and challenging time for Zak – he had to mentally adjust to not being able to do the things that he once did so easily, such as getting up to standing from sitting and weight-bearing and walking. Zak uses lots of equipment to help him move around ‘independently’ including a powered wheelchair and all-terrain vehicle. Despite his physical limitations, Zak is full of life and loves it! His favourite hobbies (other than PS3 – which he has perfected!), have included mackerel fishing, kayakking and bread making with his dad! He has even tried surfing, body boarding and especially loves to swim so we try to take him regularly. In water Zak feels completely ‘normal’ and weightless: and it reminds him of how it felt to walk and move around more easily.
At the age of 16 Zak had scoliosis surgery to correct curvature of the spine. This was a difficult time for him as he took 10 days before he could be successfully extubated post operatively. We are all grateful to Professor Simonds and the amazing team at The Brompton Hospital who took him into their specialist ICU care two days post operatively because of the respiratory complications following his surgery. They helped him to avoid a tracheostomy. Following extubation he required NIV 24/7 and NG tube feeding and lost all his muscle power. But with their help, Zak was successfully weaned back off NG tube feeding and eventually only required NIV overnight again, building up his strength over several weeks. You can read Zak’s scoliosis surgery experience here. Fortunately, one year ++ on, Zak has regained virtually all of his former strength. His back and neck are still weaker than before surgery but we hope that hydrotherapy will help to build these muscles back up again after more time. Post-operatively, he is still unable to weightbear or stand which he could also do before surgery but this is more due to contractures rather than weakness. We are now hoping to try a standing wheelchair, rather than the frame.
Some weekends Zak enjoys wheelchair football and has even had a go at wheelchair table tennis. He is a member of a great group called Powerpack which organises activities like this for mainstream pupils who are wheelchair users.
Zak goes to a regular secondary school and is academically very bright and capable, currently studying for three A’levels. His biggest annoyance is that he fatigues quite easily so he has had to try to manage studying them on a reduced timetable.
Zak is our lovely, bright and determined young man; who takes what he has been dealt in his “wheel” (as he puts it), and still manages to see the hysterically funny side of life. His motto in life is ‘be grateful for what you do have’.