Zak Hughes is 15 years old and lives in the UK with his mum Wendy, dad Simon and sister Sophie. Zak’s story was the first to appear on our website when we started out in 2001. Below Zak and Wendy talk about Zak’s life.
What form of CNM/MTM do you have?
Zak: I have X-linked myotubular myopathy.
When did you first get diagnosed?
Wendy: At 6 months of age it was decided that Zak should have a muscle biopsy because of the number of times he had lung collapse and because until then, Zak was mostly in SCBU and hospital in Bristol very floppy, with lots of secretions and by then, three episodes of lung collapse and pneumonia.
None of the genes for MTM were discovered and the diagnosis could only be made by muscle tissue analysis. So they really didn’t know what type of myotubular myopathy they were looking at / dealing with. Before the biopsy, they suspected a whole series of different diseases like Prader Willi, Spinal Muscular Atrophy (SMA) to a benign hypotonia. We were told however Zak had given them serious concerns. It was actually a relief when we got a diagnosis because it gave us some idea of what the progression of Zak’s condition would be, although we had to rely on out of date papers dating back from the 1960’s! Although the outlook was bleak – we rebelled against these horrible ‘gloom and doom’ papers and it totally changed our perspective in life and attitude towards how we should be expected to treat our disabled son. We rebelled against his disability and his medical fragility and decided to treat our boy as normally as possible, pushed him on physically and just hoped for the best.
What symptoms prompted your diagnosis?
Zak: Poor respiratory function and being floppy.
How long did it take to get your diagnosis?
Wendy: We didn’t get to know which gene was implicated in Zak’s form of MTM until he was nearly 18 months old – this was when the team at Cardiff discovered the first MTM1 gene. Although at that time they couldn’t say whether I was a carrier or not, my DNA had to go off for further analysis.
How did the diagnosis come about?
Wendy: Muscle biopsy and DNA test.
What impact/implications did the diagnosis have?
Wendy: We had decided not to have more children anyway, although it was my dream to have at least four after we had our first born, Sophie. Testing for an affected baby was possible but seemed like a much more complicated process back then with more risks about needing a late termination. There was only amniocentesis available at that time (but now you can be tested within first few weeks to determine the sex). Although it must still be a scary process for anyone to go through and I admire the bravery of the parents who do go ahead with further pregnancies.
Have you explained CNM/MTM to family members and what was their reaction?
Wendy: I have two sisters and a few nephews and nieces, so obviously, as a carrier myself, they might also have been implicated. My sisters did give bloods for DNA analysis to see if their children were affected but it appeared that I am the first carrier of MTM in our family history. It amazes me how a genetic disease like MTM can suddenly appear ‘spontaneously’ in families with no earlier family history!
Do you have advice for people who are looking for a diagnosis?
Wendy: Some genetic centres will test for all the genes. If you are not happy with the advice you are given, go to see a specialist linked to a genetic diagnostic testing centre – such as Dr Heinz Jungbluth or Dr Fiona Norwood in London.
What are your current symptoms?
Zak: As I’ve become a teenager and grown, I have not been able to walk and need to use a powered wheelchair and help and also need NIV night-time ventilation, but generally I’m pretty well.
Wendy: No other family members have any symptoms, although there is the possibility that Zak’s sister could be a carrier like me.
What treatment are you having/had?
Zak: I take tablets called pyridostigmine (mestinon) three times, sometimes four times a day if it’s a busy day and it makes me feel a bit more energetic. I hated the nighttime ventilation at first and the first machine and masks were awful. But the Brompton sorted that out. The machine was quite noisy to get used to (a ‘breathing monster’) but now I’ve got more used to it and a more comfortable mask, so I have it on from when I go to bed until about 5.00 a.m. It gets slightly uncomfortable if I keep it on too long, so I like to have a couple of hours sleep without it too!
How did you find a doctor?
Wendy: A doctor in Bristol realised that this was a condition he wasn’t 100% familiar with, so referred Zak to Professor Francesco Muntoni’s team at the age of one year. Thankfully he had worked with Professor Muntoni at Hammersmith Hospital, London, so had the foresight to realise that rare conditions are often better treated by people who are very familiar with it – he has seen Zak his whole life. (Professor Muntoni has now transferred to Great Ormond Street Hospital, London).
What has been your experience of the healthcare system and healthcare professionals?
Zak: I have quite regular appointments, and when I come out of an appointment I think ‘thank God that’s done’ because it’s boring isn’t it being picked around and prodded and poked. But I suppose it has to be done and they do give very good advice.
Wendy: We have been lucky to be linked to a specialist hospital – that really does make all the difference and we always learn so much from these specialist appointments. If we visit our local team, it’s more often the other way round – we tell them stuff!! But that’s not to say they don’t pick up on and help to provide the equipment and services that are recommended by the specialists who really know the condition, at GOSH. And hopefully it’s helping to extend their knowledge too – so we have always found it really beneficial all round, to see teams locally and at the specialist hospitals.
Has your diagnosis had any health insurance implications for you?
Wendy: We have had to pay for special medical insurance cover for holidays and trips etc but have never had a problem getting it and so no it’s not really applicable. The NHS covers all treatment costs, although we have had to buy some equipment ourselves, because NHS will only cover the basic essentials.
What advice would you give to someone who has just been diagnosed with CNM/MTM ?
Wendy: To read as much as possible to learn from other parents / individuals. Try to plan ahead as much as possible in terms of adaptions or equipment so there is a smooth transition if things do change (and it’s not a last minute panic to adapt things in your life) but bear in mind everyone is different and you / your child will follow their own course. Try not to treat yourself or your child as ‘disabled’ – really push them to do things physically and join in with ‘normal’ childhood activities – there is usually some way around difficulties. Although it might not feel like it in those early years when things seem bleak – often, things can get better and improve, so always remain hopeful and optimistic and enjoy every minute of every day (with no regrets).
In this respect, we benefited from not knowing the course of Zak’s condition because there just wasn’t the information or internet back then and we may have treated Zak differently if we had known more about the statistics of the condition – even perhaps not pushing him to try to do as much as he did. We put our heart and soul into our children don’t we and all we can do is our best for them and hope things will improve for them. Regular exercise like hydrotherapy and even horse-riding (if tolerated) can really help to build up strength and stamina.
Zak: Try to be determined in your outlook and have a go at anything suggested to see if it makes a difference, it usually pays off.
What is your favourite book/film/music?
Zak: My favourite author is Robert Muchmore, because they’re action-packed and thrilling – in my own writing, I like to be adventurous. My favourite film is ‘Enemy At The Gates’ which is about a Russian sniper.
What do you want to do when you are older?
Zak: I’ve no idea at the moment, but I would like to go to University and at the moment I’m quite keen on Modern History. I also quite like the idea of computer programming.
What is a favourite/memorable event from your childhood?
Zak: Going to Florida on holidays. Swimming in the warm water, sunshine, swimming with dolphins, driving boats in the intercostals waterways and eating ‘popcorn shrimp’. My mum reckons it was a tonic and helped make me stronger. Something that was verified by my respiratory consultant – she thought they should be handing out ‘prescriptions’ for holidays in Florida to patients with chest complaints!
Who do you think has most influenced you in your life and why?
Zak: Stephen Hawking – because he shows me that you can do anything with your life! I really admire his brain too.
Zak and Wendy: We think Toni Abram and the Information Point is truly inspirational to us and many other families and individuals affected by MTM / CNM. So we want to take this opportunity to congratulate Toni on her 10th birthday and thank her for her dedication, hard work and commitment in everything she does for our community.
Toni knits us all together so nicely, inspires us with wonderful stories, signposts us to services and information to help our everyday lives and helps us to feel less isolated, like we are part of a great big FAMILY! We are so proud of you Toni and everything you have contributed and achieved and strived to do to make things better for MTM / CNM over the past 10 years – you are truly inspirational!
What’s the best advice you’ve been given?
Zak: To have a go at anything and not let your disability get in the way of your aspirations. My grannie wrote some words by Edward Everett Hale from the story ‘Ten Times One Is Ten’ in my christening card which says: ‘To look up and not down, to look forward and not back, to look out and not in, and to lend a hand’ which I think is good advice.