Scott Howell from Moreton on the Wirral in the UK is 4 years old and has X-linked myotubular myopathy. He lives with his mum Chantelle, older sister Emilie and younger brother Alfie and goes to The Lyndale School in Eastham. Scott is 24 hour ventilator dependent and fully gastrostomy fed but does not this affect his everyday life. Below Chantelle writes about Scott, her happy, loveable little boy.
What form of CNM/MTM does Scott have?
X-linked myotubular myopathy.
When did Scott first get diagnosed?
Scott was five weeks old.
What symptoms prompted Scott’s diagnosis?
Poor respiratory effort and floppiness.
How long did it take to get a diagnosis?
It was only about three weeks for preliminary results, then six weeks for definitive results.
How did the diagnosis come about?
Muscle biopsy from left thigh.
What impact did the diagnosis have on you?
Scott was only five weeks old but as a parents point of view this was devastating news. I only knew what I was told by the doctors and this was not a very good picture. I researched a lot after Scott got his diagnosis and found half of what the doctors said was untrue or very exaggerated.
Have you explained CNM/MTM to family members and what was their reaction?
Obviously it was myself who told family members and they all had mixed emotions and points of view, which was really difficult as Scott’s mum, as at that point in time I just needed support not people making their own judgments but once they had got over the initial shock they were all very supportive and still are.
What implications do you think it has it had on your family?
As I already had a young daughter (17 months old) it was very difficult to juggle my daughter and spending time with Scott in hospital. I put my daughter in a private nursery just to make life a lot less hectic which I feel alleviated some of the stress but I was constantly called to hospital as Scott was very unstable. As time went on this seemed like ‘normal life’ to myself and our family. Scott has been home since he was 10 months old with a few stays in hospital but he is in a fantastic routine now and it’s a lot less chaotic.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
I was always very honest with my daughter and other people about Scott’s condition. I have had genetic counselling which confirmed I am not a carrier of Scott’s condition. As for starting a family Scott was my second child and I thought my family was complete but my third child surprised me and was born in November 2010 a healthy baby boy. I had tests whilst I was pregnant as there is still a slight chance that I can have another child with MTM but they came back negative.*
What are Scott’s current symptoms?
Scott is currently very well and has no major symptoms apart from being 24 hour ventilated and fully gastrostomy fed. In 4 years Scott has had numerous operation’s which include tracheotomy, gastrostomy, fundoplication, botox to the salivary glands, two portacaths and just last June 2010, he had a right lower lung lobectomy where half of his lung was removed.
What treatment has Scott had?
In the past Scott has had three monthly pamidronate infusions and botox injections. Scott is regularly reviewed by respiratory consultant, neuromuscular consultant, physiotherapist and his dietician.
How did you find a doctor?
Scott was referred from our local hospital where he was born.
What has been your experience of the healthcare system and healthcare professionals?
Very mixed, if Scott needs something there always seems to be a fight for everything, which is really difficult but on the other hand Scott has an amazing team of carers, which usually runs quite smoothly until staff sickness.
Has the diagnosis had any health insurance implications?
I have tried several times to get health/life insurance for Scott to no avail.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
Live life to the max, take everyday as it comes, every second I spend with Scott is a blessing. Life throws these difficult situations at people who are special, strong people who can deal with anything that may arise, I really do believe this to be true but I’m sure some people may disagree.
What is Scott’s favourite film?
Scott’s favourite films are Toy Story and Shrek. He has watched them millions of times and never gets bored. He even laughs before the funny parts now as he knows what is coming up next.
Who do you think has most influenced you in your life and why?
We know another child with MTM that is a huge influence on Scott and myself. He is 15 now and has overcome some really hard times in his life but he never complains. He is absolutely amazing and is such a inspiration. Scott is fascinated by him when we visit each others families, also his mum is amazing, if I have any questions or situations and I do not know about them or how to deal with them, she is always on hand to answer or help in anyway she can which is fab and puts me at ease a lot more.
What’s the best advice you’ve been given?
Scott would not be Scott without MTM. Which is so true because I absolutely adore him.
* When an MTM mutation is found in a boy his mother is tested. If her DNA test is negative for the MTM mutation it is likely that the mutation arose at his conception. In this case the risk to a woman having further affected sons is very low but it is not zero due to the risk of germaline or gonadal mosaicism whereby one of her ovaries could carry this mutation in the cells of the ovary. This would have to occur after the conception of the mother but during the time when she is a developing embryo. Testing is not available to find if a woman is a gonadal or germaline mosaic but testing in future male pregnancies is available if a woman wishes. For further information on this subject visit the NHS National Genetics Education and Development Centre.