What form of CNM/MTM do you have?

I am a manifesting carrier of x-linked myotubular myopathy.

When did you first get diagnosed?

I was officially diagnosed with the condition in January 2009.

What symptoms prompted your diagnosis?

I was taken into hospital with very little oxygen in my system in March 2008 and while being treated for this on a specialist ward, the nurses all noticed I was having difficulty getting up from chairs etc. I was then put under a neurologist who delved into the death of my son Andrew in 1986 from unknown causes. She came across his muscle biopsy results from just after he died which proved he had XLMTM. I had a blood test and bingo, the reason for my weakness became known. Unfortunately, I also found out at this late stage what my son Andrew had had and became filled with guilt all over again.

How long did it take to get you diagnosis?

I started seeing a neurologist in May 2008 and after several tests including a painful needle biopsy, I had the blood test in October 2008 and got my results in January 2009, so 9 months in total. However, it probably would have taken longer had Dr Brierley not found Andrew’s results.

How were you diagnosed e.g. muscle biopsy?

Diagnosed by son Andrew’s previous results and then a blood test.

What impact did the diagnosis have on you?

Scared about my future. Worried about whether I had passed on to my daughter, if my sister also had it and her daughter as well. Worried about telling my mum as no history in the family and didn’t want her to blame herself. However the biggest problem was getting used to the breathing machine I have to wear every night / all night and keeping my husband awake.

Have you explained CNM/MTM to family members and what was their reaction?

Can’t keep any secrets from my family!!! As soon as they found out they were all on the internet finding every article they could. Everyone wanted to know how it had happened to me, what my future held, if I would end up in a wheelchair etc.

What implications do you think it has it had on your family?

Caused a lot of problems between my husband and I. We had just started going on holidays 2 – 3 times a year abroad and enjoying ourselves after bringing up our daughter and we saw that as being taken away from us. Also caused problems with my machine as husband is a light sleeper. Thought we may have to move house when I found I couldn’t manage our steep stairs but instead got a stair lift fitted. Had chair raisers fitted to sofas and hand rails installed in shower. A lot of changes happened at home and had to fit new bathroom with walk in shower as I could no longer get into bath for shower.

Has it affected you e.g. telling your children, starting a family, genetic counselling?

My daughter Caroline who was 22 just after my diagnosis decided she wanted to be tested to see if she was a carrier. Her test results showed she was not which was such a weight off my mind that I had not passed it on to my one remaining child. Plus I could look forward to grandchildren in the future. I was very emotional when she received her results – a positive at last after a bad year (I also lost my dad from cancer in December 2008). After Caroline we followed through with my sister Julie and she was also tested as negative.

Do you have advice for people who are looking for a diagnosis?

My advice would be to find a good neurologist first and foremost. Mine is marvellous and has just moved from Ipswich to Bury st Edmunds hospital, so I have transferred with her. Next ask questions in the family to see if there is any family history. Unfortunately that turned up blank in my case. Don’t keep anything back from your neurologist. With hindsight, I had struggled getting up from chairs and with stairs for years, but didn’t want to admit there was anything wrong.

What are your current symptoms?

I have bilateral diaphragmatic weakness which means both diaphragms don’t function properly. I wear a machine to correct my CO2 levels during the night. I become tired easily during the day because of this. I have weakness in both legs, although the left is the weaker and use a walking stick. Both arms are getting progressively weaker, I notice most when doing shopping, reaching for things on high shelves and hanging out washing. I suffer from pain in my neck and shoulder blades.

What treatment are you having and/or have you had?

I have 24 care available through the physio at Ipswich hospital. I go to Papworth Hospital every 6 months for an overnight stay to monitor my breathing and to Bury to see my neurologist every year. I also have a heart scan yearly about 2 months before my next neurologist appointment.

How did you find a doctor?

I was very lucky in that I was given to Dr Brierley as she was based at Ipswich hospital and I was referred directly to her.

What has been your experience of the healthcare system and healthcare professionals?

The doctor who was treating me for Asthma from December 2007 to March 2008 nearly killed me by not recognising the symptoms of oxygen deprivation. I was admitted to hospital initially in March 2008 with infection in my leg from a scratch. Prior to that I had been seeing the same doctor at my surgery complaining of no energy, sleeping all day and not being able to walk more than four paces without stopping for breath. At no time did he check my oxygen levels. I still feel very angry with this doctor and it is part of my life that still haunts me and gave me nightmares for a long time. Other than this one person, I have been given nothing but honesty and the best care from all others, apart from when I was first made to wear my machine and was very panicky. I think I gave the night nurses hell for a few days – it takes your doctor to tell you wear it or you die to make you take note sometimes!!

Has your diagnosis had any health insurance implications for you?

I was able to get Travel Insurance at a premium rate, but have so far been unable to get Life insurance. As I am nearly 47 now, I figure I may as well wait until I am 50 and then retry.

What advice would you give to someone who has just been diagnosed with CNM/MTM?

I had a lovely counsellor offered to me to help with post diagnosis and to supply any further information I needed, so check if there is such a person available to you in your area. I also attended an Expert Patient Program for 6 weeks in June – August 2008 and can highly recommend this. I hated the isolation I felt and although no one else on the course had my condition, they all had long term problems and everyone felt the same feelings of frustration and anxiety about the future. I spent my spare time, of which there was now plenty as I was also made redundant in April 2008, on the internet doing as much research as was possible and managed to find Toni and her wonderful people to talk to. I also found out what help there was out there for me from Occupational Health – they supplied and extra bannister up the stairs, chair raisers, a raised toilet seat (although we didn’t get along with this) a half step at the front door and got me in touch with a place in Ipswich to try out stair lifts and other hand gadgets to help with opening jars etc. Also if you need a walking stick – go to the physio and she will find one that is just right for you. I was getting pains in my back and wrists from using a wrong stick and I also was less confident when walking on my own.

What’s your favourite book/film/ music?

Books – anything by Jeffrey Deaver, Tess Gerriston or my fave is The Davinci Code. Music – Robbie Williams rules for me!! Film – Miss Congeniality.

What did you want to be when you were younger?

When I was younger, I wanted to be a physiotherapist and work on injured footballers especially the ones I had a crush on!

What is a favourite/memorable event from your childhood?

Booking up a family holiday the day before we went and having the time of our lives.

Who do you think has most influenced you in your life and why?

My parents have taught me that a close knit family that sticks together through good and bad are to be treasured. I am so lucky to have my family around me.

What’s the best advice you’ve been given?

My aunt has recently said to my Mum that I need to “stop living in the past and bringing up bad memories and look to the future with a positive attitude”. I realised that was exactly what I was doing and now try not to look back, only forward. A Facebook friend also recently said “if someone tells you you can’t do something, think how you will feel when you prove you can”. Thanks to Scott Crane for his words of wisdom that always inspire me!!

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