Scott Howell

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.

Melissa

Melissa is a Graphic Artist and lives in Saskatchewan, Canada. Below Melissa and her mother Brenda tell the Information Point all about Melissa.

What form of CNM/MTM do you have?

Melissa: It is believed I have the most severe form, which is X-Linked.

When did Melissa first get diagnosed?

Brenda: Began tests at three months and diagnosed at six months.

What symptoms prompted Melissa’s diagnosis?

Brenda: Severe bronchitis and very weak muscles.

How long did it take to get a diagnosis?

Brenda: Three months to identify myotubular myopathy but 15 years for type.

How was Melissa diagnosed?

Brenda: Muscle biopsy.

What impact did the diagnosis have?

Brenda: The doctors were very concerned for Melissa respiratory health and her prognosis was poor.

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

Brenda: Yes, some surprise and wonder about family planning in the case that it is genetic heredity. Siblings grew up with knowledge and prepared for parental planning. We believe the males in family are not affected or carriers but have not been able to determine if females may carry the gene or Melissa maybe started her own gene.

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

Brenda: We’re living life optimistically. Melissa has proven herself against the odds and even though her physical challenges are great, she has found many ways to connect with the world outside our home using her ingenuity and intelligence. We’re learning a life long lesson, some days are great and some have much frustration and tears.We live most of our days living like other families. Melissa is the youngest, with four older siblings.

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

Brenda: Yes for the siblings.

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

Brenda: Be patient, nothing is written in stone.

What are Melissa’s current symptoms?

Brenda: Severe muscle weakness, gastrointestinal tube feed, bouts of lethargy due to weakness. Limited time/opportunities to be out due to remote rural living and weather versus the powerchair Melissa uses. Melissa also has a very high roof in mouth. They did think it was cleft but it is actually just very high with extra bone tissue. Severe scoliosis – organs not compromised.

What treatment does Melissa have or has she had?

Brenda: Tube feeding – Melissa was only able to reach 39 lbs and began to lose weight quickly entering puberty. Her weight has been stable at 95 – 100 lbs for about six years now. Melissa had a very significant positive change in health when she was put on Bi-PAP at 14 years old. She has a bi-annual sleep test, blood and oxygen testing.

Melissa: I would have to say that both of those changes were scary but I am so glad they happened now. When it was time for me to get my G-tube, the way they showed me how it worked scared the daylights out of me. Immediately I said ‘no’ and with being 14 at the time, I had final say in my healthcare. If it wasn’t for my mom stepping in and technically overruling my decision, I would not be here.

For the Bi-PAP, we had a misunderstanding with our respirologist at the time. He simply said ‘Naslette or Mask?’ and we of course said ‘Naselette’, which was a low dose of oxygen throughout the night. I spent a few years on .5 oxygen while sleeping which only acted as a ‘bandaid’ in the fact that it kept my blood oxygen levels normal, but I wasn’t pushing out enough air while I slept, so my carbon dioxide levels were too high, causing severe headaches and sleep deprivation for both me and mom.

Finally the respirologist suggested that we switch to Bi-PAP with the full face mask. That was tough. It was tough because as a young adult, I felt it was another thing that made me ‘uncool’ and dependant. It took about three months to get comfortable enough to wear it all night. We started out wearing it for about 20 minutes before bed, then back on .5 oxygen for the night. Slowly we worked our way up to the point where I was falling asleep while watching TV with it on. That was when mom was like ‘OK, you’re good to go now!’ haha. Now, I can’t sleep without it. It makes me sleep so much better. Whenever I go for my sleep tests, the doctors and techs are amazed that within five minutes of falling asleep, I go into ‘Delta sleep’, which is the deepest sleep state and I stay there until I wake up. Now the worst thing about it is when it’s time for a new mask or harness. Our providers do not deal with the same suppliers anymore for the mask that I prefer, so we have to do some searching online. I found a website that ships to us, who carries my mask, and we just send them a doctors note with the name of the mask and they sell it to us. The hardest part though is finding a harness that is small enough. We’ve had to bust out the sewing machine a few times to alter harnesses before haha.

How did you find a doctor?

Brenda: Initially our family doctor referred Melissa to a pediatrician and then we were sent to the Royal University Hospital at Saskatoon. Dr Lowry (neurologist) oversaw Melissa’s development with other doctors and physio and occupation therapists at Kinsmen Childrens Centre in association with Royal University Hospital. After reaching 18 years of age Dr. Lowry stayed on her case as required and we now see a respiratory specialist Dr. John Reid.

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

Brenda: Take information with a grain of salt. Try to stay optimistic no matter how poor the outlook is said to be. Be very vigilant and loud in getting the treatment that is needed. Best advice I was given as a caregiver is ‘Squeaky wheel gets the grease’.

Has the diagnosis had any health insurance implications for you?

Brenda: Not to date – Melissa has coverage through the Para Program In Saskatchewan and Social Service Coverage. Also equipment through Saskatchewn Abilities Council and Saskatchewan Aid to Independant Living (SAIL).

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

Brenda: Be optimistic. Stay away from persons with colds, flus, chronic coughs. Keep doors, handles, sitting areas disinfected. Get the flu shot every year. Stay inside during cold weather. Lots of percussion therapy to keep lungs clear. We would percuss Melissa every 1.5 hours when sick. Pneumonia was very common for her to get but since being out of school and siblings have moved out, her respiratory health has been good and we have overcome some flus with little effort. Siblings were educated about common colds and flus and trying to avoid getting them. We encouraged neighbors and friends not to visit when they are sick. Melissa also has a suction machine to help her clear mucus and phlegm, an absolute necessity as well as Bi-PAP.

Melissa: I have to agree with everything mom has said. Mom maybe goes a little overboard sometimes with her ‘preventative measures’. I have so many stories about them haha. Like when there was a big health scare a few years ago, and people were wearing facemasks when they were sick … well, mom made me wear one while I wasn’t sick, and everyone thought I WAS sick. It was funny to see people cut a wide path around me haha, the only time people got the heck out of my way in public. One time we were at the hospital for our bi-annual sleep test. While we were being admitted (through emergency, which would be faster) I had this stupid mask on, and it was hard to breath through. I found a small little area where no one was near me, and I made eye contact with Mom who was standing in line and signed to her that I couldn’t breath. If looks could kill … haha, she was mean-mugging me from across the waiting room if I dared to take it off. Finally she gave in and let me have a breather. I no sooner got that stupid mask pulled down to take a nice deep breath when a nurse came flying around the corner and chewed a strip off of me, cause she thought I was sick. Haha … poor nurse, almost gave her a heart attack.

Melissa, what is your favourite book/film/music?

Melissa: I don’t usually read books. But I do remember reading a novel in middle school over and over called ‘Blitz’, it was about a fire engine horse from way back in the day. I think it was fiction though, it seemed a bit too ‘epic’ haha. I do read a lot every day though. I read lots of gaming websites and stuff about country music, or facts about science, technology, and my favourite movies.

My favourite movies are definitely the Aliens franchise. The first three Resident Evil movies, The Messenger: The Story of Joan of Arc. I watched lots of the same things my two brothers who are slightly older than me watched, so pretty much all of Arnold Schwarzenegger’s movies, etc. My favourite music is definitely Country Music, but REAL country, not the stuff they call Country now. My favourite artist is Terri Clark. I have had the pleasure of meeting her several times now, and each time I feel the most nervous, which is funny because she is so ‘real’, and genuine, and normal, everyday, puts her pants on one leg at a time type of person, yet it feels like I am meeting the Queen every time. Haha!

Melissa, what did you want to be when you were younger?

Melissa: A country singer … haha. And apparently my dad remembers me trying to convince him to bring home a bull for me to ride in our living room haha, so I guess a bull rider too.

What is a favourite/memorable event from Melissa’s childhood?

Brenda: Melissa has many, once we were informed of Melissa’s disease we went into panic mode and straight into protection. With time we ventured to put Melissa in playschool against doctors recommendation. We tried very hard to let Melissa experience life in a positive manner. The unplanned best part of Melissa’s young life is having four older siblings that treat her as an ordinary person. She had to fend for herself against two slightly older brothers and another older sister and brother. Little things like a trip to the city, McDonalds, pets (goat, horses, dogs, cats, birds, mice, ‘scoby duck’) horse back rides, wagon rides, fighting with her brothers, family movie night, monopoly … the little things are the best. Lots of love, lots of laughs. Disneyland was good for all of us and arranged by the Children’s Wish Foundation. Melissa now fundraises for them each year they have the ‘Wish Parade’.

Melissa: Again, so… many… stories.

Melissa, who do you think has most influenced you?

Definitely my mom and my sister Rosine. Those two women are the two women I strive to be.

Melissa, who would you most like to have dinner with (living or dead)?

My Grandpa Klassen, my Grandma Dunn and my Auntie Gilda and my Uncle John from my moms side. They are all passed on and I only have a few memories of them as a child. But I often wonder what they might be like now that I am an adult. I miss them and I enjoy the stories my mom and dad tell me of them.

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

Melissa: Don’t let anyone pull the wool over your eyes’ from my mom. She has been preparing me from a young age to ‘stand up’ for myself and not be a victim.

Brenda: Miracles will happen. Never give up.

Logan

Logan lives with his mum Kathleen and dad Brian in North Carolina. Below Kathleen tells Our World all about Logan.

Logan Forbis was born on February 6th, 2012 at Women’s Hospital of Greensboro with complications. He was born with breathing issues, not able to swallow and low muscle tone, which caused him to have very little movement. He was at Women’s hospital NICU for a week, where they ran several blood test, scans and he was on a CPAP breathing machine. At one week old, he was transferred to UNC Children’s Hospital NICU for further testing. Logan underwent several blood tests, MRI, Electrical Muscle Stimulation test and a muscle biopsy. Logan had many ups and downs and was on and off the ventilator four times. After seven weeks of waiting, Logan was diagnosed with X-linked myotubular myopathy.

Once we had a diagnosis we decided it was in Logan’s best interest to have a gastrostomy tube in place so we would have a way to feed him. Logan came home on April 16 and has done well at home. He has a feeding tube pump, pulse oximeter, suction machine and oxygen as needed. He needs physical therapy, occupational therapy and speech therapy. His movements have improved since birth, but he has no head control and has to have his head tilted so he doesn’t choke. On August 6th, 2012, Logan was fighting pneumonia and almost lost his battle. He was on his way to the pediatricians office for a check up when he all of a sudden went downhill fast. Logan was intubated and never came off the ventilator. On August 24th, Logan had a trach placed. He came home once again on September 19th and is totally vent dependent. But, since being trached, it has allowed Logan to use his energy to do other things, rather than working so hard to breathe. We are so impressed with how smart Logan is. He tries his hardest to do the things a ‘normal’ baby would do, but his little body won’t allow him to. He is a true blessing, and teaches us something new everyday.

What form of CNM/MTM does Logan have?

Logan has x-linked myotubular myopathy.

When did you first get diagnosed?

He was diagnosed at seven weeks old.

What symptoms prompted the diagnosis?

Hypotonia, high arched pallet, and no gag reflex.

How long did it take to get Logan’s diagnosis?

Seven weeks.

How was Logan diagnosed?

Muscle biopsy and blood work.

What impact did the diagnosis have on you?

It changed our world. The prognosis varies from person to person, so we didn’t know how long we would have with Logan, We took him home with a gtube, feeding pump, suction, pulse ox, oxygen as needed, and prayed a LOT! We always knew there would be a chance that he would have to be trached, but we wanted to give him a chance. There were a few times we had to call 911 because he got choked up on secretions, but would recover pretty quick, other than that, we took him out as much as we could. He was doing great at home until he caught pneumonia in late July 2012, and after three failed extubations, we decided to trach him. He is at home now, and has so much more energy to do other things besides work to breathe.

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

At first everyone was devastated. We had no idea what to expect, but as time goes on, it gets easier for everyone. We cherish every moment we have with our sweet boy.

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

If anything, it has made us stronger. It brought us all closer together, and our community rallied around us and gave us so much support. As each day went by, we just held our heads up high and learned how to do everything possible to care for him, so we could bring him home.

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

I had genetic testing done and I am not a carrier, but we know that there is still a small chance it could happen again. I want to talk with a genetics counselor, because we do want more kids one day.

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

Be patient. It takes a while to get the results. And don’t go looking on the internet too much because there are websites that are not current, and some of the things you see can be scary. But, there are also really good websites and support groups to ask questions on.

What are Logan’s current symptoms?

Logan still has significant hypotonia, but can move all extremities and we are working on trunk and head control, he has respiratory insufficiency, but is trached, he has a feeding tube, pectus carnivitum and undecended testicles.

What treatment is Logan having?

We did a Mestinon trial when Logan was four months old and it didn’t go over to well because he was accidentally overdosed. But we did notice an increase in movement when he was on it. It is something we would like to consider once he turns one.

How did you find a doctor?

Logan was at UNC Children’s hospital, which is one of the best hospitals in North Carolina for specialists. We found a fantastic genetics doctor, pulmonologist, and ENT doctor.

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

A lot of doctors in our area have never heard of MTM. So, it was a challenge for everyone to learn about MTM and the next steps to take.

Has your diagnosis had any health insurance implications for you?

Logan has been lucky to have good insurance and the help of the government.

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

Be patient, and work with your child everyday and get those muscles moving!

What are Logan’s favourite things to do?

Logan LOVES the Mickey Mouse Clubhouse on the Disney channel, and loves anything that lights up and makes sounds.

What has been the hardest thing about the transition home?

I would have to say the private duty nursing. It is hard having no privacy at times and having someone else handling our child, but it’s also nice to have the help. We have definitely gotten attached to a few of our nurses.

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

Logan has influenced us in ways we could never imagine! He has given us a whole new outlook on life. Not only has he influenced us, but he has also influenced our community to support those who need it.

Who would you most like to have dinner with (living or dead)?

Alison and Paul Frase.

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

Be your child’s advocate! And, don’t let anyone tell you how to care for your child. You know him best.

Read Logan’s blog

Kyle

Kyle is 14 years old and lives in Vermont with mum Betsy and dad Scott. He recently finished 9th grade at Vergennes Union High School with honors. Below Kyle and Betsy talk about Kyle’s life.

What form of CNM/MTM do you have?

Kyle: X-linked MTM.

When did you first get diagnosed?

Kyle: As an infant.

What symptoms prompted your diagnosis?

Betsy: Kyle was very hypotonic at birth.

How long did it take to get a diagnosis?

Betsy: Months – a muscle biopsy sample had to be sent to Boston.

What impact did the diagnosis have on you?

Betsy: The diagnosis was devastating to us but in a way good news because it meant that things would not get worse.

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

Betsy: Supportive.

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

Betsy: It had a huge impact on our family as we had to adjust to a new ‘normal’. Need to write a book about it.

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

Betsy: Kyle has two sisters that will see a genetics specialist.

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

Betsy: Getting a diagnosis helps your mind settle on ‘what will be’ and helps you find other affected families, who are very supportive.

What are your current symptoms?

Betsy: Kyle still has low tone, he has a trach, a g-tube, a ventilator, etc. but is strong enough in his upper body to drive a hands-only lawn mower. He recently suffered a minor fracture of the femur in February after he fell out of his chair. A caregiver was assisting him and the joystick was bumped. A lesson to remember to switch off his chair when not moving!

What treatment are you having, and have you had?

Betsy: Supportive therapies and IV pamidronate for brittle bones.

How did you find a doctor?

Betsy: We use our primary care who refers us to appropriate specialists.

Has your diagnosis had any health insurance implications for you?

Betsy: Kyle’s health insurance coverage in the state of Vermont has been excellent.

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

Betsy: Plug in with others who can support you.

What’s your favourite book/film/music?

Kyle: Favourite music: Keith Urban. Favourite movie: Spiderman. Favourite books: Adventure stories.

Favorite things to do?

Kyle: Playing the Wii, driving the lawn mower and going fishing with my dad!

Betsy: In his spare time, Kyle watches videos of the adventurous, late Steve Irwin, the Australian ‘crocodile’ man and conservationist. He also loves to watch educational shows such as ‘Trucks’ and ‘Gears’, which teach him about auto mechanics. He loves to play TV games, including tennis on the Wii, which he is very good at!

Summer is without a doubt Kyle’s favorite season. He looks forward to the warm weather. His newest activity he has taken up, which he absolutely loves, is power soccer. There is a growing power soccer team in Burlington which practices once a week, and competes occasionally in other areas of the Northeast.

We also have a new little four legged friend in our family, a puppy who is part Chihuahua, part Yorkie, and part Maltese. She sits on Kyle’s lap and curls up on his bed at night. A furry friend makes life feel special for Kyle!

Recently we also had a special time at a camp called Double H, a Hole in the Wall camp started by Paul Newman. I would highly recommend this camp as a fun place to come for a few days, bring family, and plan on fun!

What do you want to do when you are older?

Betsy: One of Kyle’s favourite classes last year was welding and electricity. He would love to be able to use tools and to work on cars some day, as a mechanic.

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

Kyle: My parents.

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

Kyle: Do your homework!

Joe

What form of CNM/MTM do you have?

I have the x-linked form.

When did you first get diagnosed?

I was first diagnosed in the spring of 2001 when I was eleven.

What symptoms prompted your diagnosis?

They were very mild symptoms such as flat-footedness, foot pain, and weakness.

How long did it take to get you diagnosis?

It took several years before I received a definitive diagnosis. The first hospital I went to was in Indianapolis when I was eight. While there, they initially treated me for being flat footed and my tight Achilles tendons were the focus. I bounced from clinic to clinic after that until Shriner’s Hospital in St. Louis. It was here that they performed a muscle biopsy which showed that I had CNM.

What impact did the diagnosis have on you?

As odd as it sounds now, at the time it was almost a relief to find out that I had limited control in my strength. When I was eleven, the only thing I was upset about not doing was running fast and it was very frustrating to not be able to change that. Walking up steps, getting out of chairs etc weren’t factors to me that early in my diagnosis. Furthermore, I wasn’t willing to accept the future implications and so the best way that I felt it should be handled was only letting a few people in on what I was diagnosed with. At this time though, I hadn’t considered how it would progress as I got older once I grew taller etc.

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

Since I was young when I got diagnosed, I never really had to explain it to any family members. My parents, my brother, and three sisters have always been extremely supportive when it comes to my condition. Nonetheless, there was a difficulty when the condition progressed. Initially I didn’t need help with everyday tasks, but it reached a point late in middle school that I noticed that I needed a hand up steps etc and to me that was difficult to let anyone in on–let alone my family. But ultimately they’ve always been beyond supportive.

What are your current symptoms?

Difficulty walking, getting up from chairs, walking up stairs. I also have joint pain some of the time, as well as back pain. I also developed scoliosis a few years back which adds to the difficulty of walking since I’m favoring my left side.

What treatment are you having, and have you had?

I’ve worn orthodics in shoes. I also work on soft impact strengthening exercises to maintain the strength I have. For a while I also went to aquatic therapy sessions.

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

Be informed, stay a step ahead of the condition. Don’t be afraid to ask for help and don’t let it impact your day to day routines any more than it should. The muscle condition has its limitations, but don’t let that bring you down. Just like any other limitation in life, you have to learn from it and find a way to overcome it.

What’s your favourite book/film/music?

That’s a tough one! Favorite book would be Scar Tissue. My favorite film is: Kill Bill Vol. 2. Favorite music: The Red Hot Chili Peppers.

What did you want to be when you were younger?

I wanted to be a few things when I was younger. A writer, play for the Indiana Pacers, a songwriter, a musician, and a journalist.

What is a favourite/memorable event from your childhood?

Shooting hoops in the backyard of my old house.

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

My parents have always been a great influence in my life and have passed down great principles to me, but the other person who also has influenced me a lot in my life is my older brother Jack. He’s lifted me up figuratively and literally.

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

The best advice I’ve been given has been to not sell myself short.

Jacob

Jacob is 9 years old and lives with mum Amanda and dad Dennis in the USA. Mum Amanda says, ‘it is so hard to believe that Jacob is approaching his 10th birthday. Our little boy is growing up and he acts every bit like the pre-adolescent he is becoming’. Currently in third grade, Amanda describes Jacob as very tech savvy, utilising these skills to help him at school and at home, from communicating to reading to completing homework to playing games and listening to music. Below Amanda writes more about Jacob.

What form of CNM/MTM does Jacob have?

Jacob has the x-linked form of myotubular myopathy.

When did Jacob first get diagnosed?

He was diagnosed at 8 days old.

What symptoms prompted Jacob’s diagnosis?

When Jacob was born, he was described as ‘floppy’ and was in respiratory distress. Initially, his condition was attributed to his traumatic birth; however, after a few days of no improvement, my husband and I were questioned about any family history of neuromuscular disease. We immediately knew what we were dealing with because I have a significant family history of myotubular myopathy.

How long did it take to get a diagnosis?

We received Jacob’s diagnosis 8 days after Jacob was born.

How was Jacob diagnosed?

A muscle biopsy was done when Jacob was 5 days old.

What impact did the diagnosis have on you?

It is difficult to explain the full impact that Jacob’s diagnosis has had on us. We were immediately immersed in a world we never imagine existed, let alone imagined we would ever be a part of. As new parents, we wanted to hold our baby and protect him. Instead, we had to sign consent for operations to save his life. Our perspective on what is important in this life has been forever altered.

What are Jacob’s current symptoms?

Jacob exhibits the classic symptoms of XLMTM. He has very low muscle tone and uses a ventilator via tracheostomy to help him breath and a gastrostomy tube for nutrition. Also, he uses a power wheelchair for mobility.

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

Dennis, Jacob, and I have the most supportive, accepting, and understanding extended family. As I said before, MTM was familiar to my family, so there were really no surprises. We were able to garner crucial advice about medical decisions from my maternal aunt, whose son was also affected by XLMTM.

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

Jacob was the first and only child for Dennis and me. I believe our (nuclear and extended) family was brought closer together by Jacob’s diagnosis and the surrounding circumstances. All of our decisions became focused on what was best for Jacob and how we could give him the best possible life. Dennis and I moved back to our hometown to surround ourselves with family.

Courtney

Bridget lives in Birmingham Alabama, USA with her two sons. Her older son Courtney is 15 years old and is a student at A.H. Parker High School. Courtney was diagnosed with MTM at 3 days old.

What form of CNM/MTM is Courtney diagnosed with?

X-linked (I think).

When was he first diagnosed?

January 17, 1997.

What symptoms prompted the diagnosis?

Courtney had floppiness after birth, cyanosis and very low muscle tone.

How long did it take to get you diagnosis?

The results came back within a few days.

How did the diagnosis come about?

Muscle biopsy.

What impact did the diagnosis have on you?

I was in shock. I was 19 when he was born and I didn’t know what the diagnosis meant.

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

We all learned about it at the same time, so we all got the explanation together.

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

We all just took the advice from the therapists, doctors and medical staff on what to expect.

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

Well, I have another child and he is not affected. But, my children have different fathers, so I am not sure if this truly makes genetic counseling an issue. I was told by a counselor that I should seek screening if I wanted to have more children. I also lived in an area that was contaminated with a variety of toxins and I was told that could have caused this diagnosis as well.

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

I would advise to get as much clarity about the diagnosis as you can. Seek specific info, because there is so much information out there and it can be overwhelming.

What are Courtney’s current symptoms?

Right now Courtney is getting weaker and requiring more assistance with daily skills.

What treatment has Courtney received?

At one point he was receiving physical and occupational therapy but after his trach was removed he lost a lot of his strength. Now, we just do at home strengthen to keep up the current abilities he can maintain.

How did you find a doctor?

I was referred to a doctor right after Courtney was discharged from the hospital, but I quickly changed because I didn’t like the care. I found a family/friend pediatrician and she has been his primary doctor ever since. We also saw a neurologist; this doctor was the same one who performed the muscle biopsy. Now, we see the doctors in the MDA rotation at Children’s Health Systems of Birmingham, Alabama.

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

It has been on a scale from 1-5, maybe a 2.9. Some of the doctors don’t know about the disorder and I ended up explaining it to them. I get upset with the doctors for trying to guilt trip me into making decisions concerning my son. For the past four years the doctors have tried to get me to get my son a feeding tube. I object every time, because I am not willing to put him at risk because they think he doesn’t weigh enough. So, that is why my rating is where it is.

Has your diagnosis had any health insurance implications for you?

None, I have only had to switch from name brand medicines on some of his prescriptions.

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

Get as much reliable information as possible. Filter what you read and hear carefully, everyone with this diagnosis has a story to share, but every ‘body’ is different.

What’s is Courtney’s favourite book/ film/music?

My son loves comedies, cartoons and all types of music.

What is a favourite/memorable event from Courtney’s childhood?

When he learned to walk; he never crawled as a baby; but one day after his 1st birthday he just stood up and walked.

What are Courtney’s hobbies?

Courtney has the gift of drawing. His art mirrors cartoons, he takes regular pictures of everyday and famous people and makes them look like a cartoon character. I think it’s a great way to express himself. I try to load pictures every week, because he draws all the time, so once I scan them I post them to his blog.

Who most influenced Courtney in his life and why?

My family, for encouraging me to do and be my best

If Courtney could have dinner with one person, alive or dead, who would it be?

Courtney would like to have dinner with Tyler Perry.

Something Courtney would change?

The progression of his MTM.

What’s the best advice you’ve been given or what is your philosophy on life?

I can do all things through Christ Who gives me strength. To do what you can do while you can.

Patrick

What form of CNM/MTM do you have?

Recessive type.

When did you first get diagnosed?

When I was twelve, I was first told I had muscular dystrophy in 1957 in Children’s Hospital Belfast. My GP told my parents I would grow out of it.

What symptoms prompted your diagnosis?

Weakness, always falling and not able to get up.

How long did it take to get your diagnosis?

Nothing more happened until I was forty and I decided to learn to drive and got in touch with MDA who arranged for me to see Dr Victor Patterson at the Muscle Clinic in Belfast City Hospital who had a biopsy done and diagnosed myotubular myopathy.

How were you diagnosed?

Muscle biopsy.

What impact did the diagnosis have on you?

Relief, at last there was a name.

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

None, they knew there was no cure.

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

I suppose at the back of their mind they hoped the doctors could do something and find a cure.

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

Yes, very much, particularly the lack of information in my young days when I read in MDA magazine in 1964 that no-one lived beyond their teens – I am now sixty five.

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

Keep asking questions and always get diagnosis confirmed twice.

What are your current symptoms?

Although still able to walk a little with the aid of a stick, I feel my muscles are getting weaker, have slight high blood pressure and pain in the joints, I am still working in a office and still drive my car with lightened power steering and power brakes etc.

What treatment are you having, and have you had?

8mm of salbutomol daily and water tablet for blood pressure. I find that salbutomol gives me more energy especially helps more oxygen to legs.

How did you find a doctor?

Through Family Care Officer at muscular dystrophy association.

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

With the exception of the Muscle Clinic which I attend yearly, complete indifference. GP’s and hospital doctors, physios and nurses are not familiar with my condition, so when I broke my leg and had to have a pin put in, I had to educate the surgeons and nurses how to handle me, but the doctor from the muscle clinic was fantastic.

Has your diagnosis had any health insurance implications for you?

Could not get life-cover.

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

It is not the end of the world; children are living a lot longer nowadays and there is a lot of research going on. Keep in touch with other families and MDA and this website.

What’s your favourite book/film/ music?

Films: Shane and The Quiet Man (John Wyane and Maureen O’Hara) Music: Folk and light classical.

What did you want to be when you were younger?

Architect.

What is a favourite/memorable event from your childhood?

Meeting JFK and Princess Grace in Ireland in 1963.

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

My parents, who didn’t treat me any different and although times were hard, did everything possible to help me be strong and take on the world with the motto ‘I can and I will’.

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

Accept your limitations but reach for the stars. Don’t be too proud to ask for help and best of all have faith in your God.

 

Madeline

Madeline lives with her mum Jacqueline and dad Scott in Philadelphia. Below Jacqueline tells the Information Point all about Madeline.

What form of CNM/MTM does Madeline have?

My three year old daughter, Madeline, has RYR1-RM (or RYR1-related myopathy). This is an autosomal recessive genetic disorder that is caused by RYR1 gene mutations. The label of CNM resulted from Maddie’s recent muscle biopsy that showed ‘numerous muscle fibers with internally placed nuclei’. However, the muscle biopsy also showed other muscle fiber irregularities, like ‘ill-defined cores’. So, I guess she doesn’t fit perfectly into any one category. She had the label of central core disease prior to muscle biopsy as well.

When did Madeline first get diagnosed?

We got our genetic diagnosis when Maddie was 10 months old. Maddie was born hypotonic (or floppy) and within 12 hours of life she was in neonatal intensive care for feeding difficulties. She has oral-motor hypotonia caused by the disease. This started our search for a diagnosis.

What symptoms prompted Madeline’s diagnosis?

Eventually at about three months old, neurologists had determined that Maddie’s issue was neuromuscular in nature and we were referred to Dr. Carsten Bonnemann. He was the first to notice that Maddie had ophthalmoplegia (some of her eye muscles are paralyzed) and this with her low muscle tone and gross motor weakness gave him some clues.

How long did it take to get Madeline’s diagnosis?

It was exactly 10 months until we got a genetic confirmation of Madeline’s neuromuscular disease. I remember being so relieved to get a diagnosis, but so scared at how rare it was and how little seemed to be known about treatment.

How was Madeline diagnosed?

Genetics – Maddie has recessive mutation of the RYR1 gene. Scott and I are both carriers of one mutated copy of RYR1. It’s referred to as compound heterozygosity because Scott and I don’t have the same mutation.

What impact did the diagnosis have on you?

As a mother, the diagnosis was a wake up call that there would not be a clear path from diagnosis to treatment and then to a cure. I had held out hope that once we got our diagnosis, the medical community would know how to solve the problem. I had to face the fact that the science and care was just emerging in this rare neuromuscular disease. It is shocking at first.

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

We always try to keep an open communication with our family about Maddie’s diagnosis and its implications. However, we are still learning and understanding ourselves. We don’t always have answers, but we do our best.

Our family has been hugely supportive and accepting. They couldn’t love Maddie more. They help us so much in our day to day and they even champion our efforts to raise money for rare neuromuscular disease. One of Maddie’s older cousins even asked for donations for our cause for his birthday last year. We really couldn’t be more supported.

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

I think it has made our family stronger. I guess I can only speak for myself, but having Maddie has made my capacity for love, understanding and patience so much greater. We move slower, appreciate the small things and have much more joy. This isn’t to say there are not times when I am sad, angry or overwhelmed at the challenges. It can be frustrating to watch Maddie fall, struggle to walk, or climb a few stairs. But when we make the focus on Maddie’s strengths, how smart she is and how much fun she is to be around, it makes the diagnosis seem like a smaller thing.

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

Scott and I have postponed expanding our family to focus on Maddie, but we are considering pre-implantation genetic diagnosis in the future.

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

Be persistent. Find a neuromuscular program or clinic at a major medical center and if you can’t travel there, contact them by email or phone. They may be able to look at medical records that are faxed or emailed.

What are Madeline’s current symptoms?

Madeline walks slowly and fatigues easily. She has a wide gait and hyperlordosis, meaning her belly sticks out and her back arches when she walks. Maddie can’t walk long distances, she can’t run or jump. Maddie climbs up a couple of stairs with two hands on the railing, pulling herself up. She has just recently started to get up from the floor by herself using a Gower’s type maneuver, but usually she has to pull up on someone or something. She falls unexpectedly and, thankfully, less frequently than she used to. Maddie eats and chews slowly and it takes about an hour to feed her a meal. She was recently diagnosed with central and obstructive sleep apnea and is starting Bi-Pap at night.

What treatment is Madeline having or has she had?

Maddie gets physical and occupational therapy at school twice a week, as well as private physical therapy weekly. We are introducing Bi-Pap and the CoughAssist for respiratory support. Maddie is followed by a feeding specialist for her feeding/chewing/weight gain issues. Also, Maddie had an eye patching regimen for the first couple years of her life for amblyopia and she had surgery for eye alignment last July.

How did you find a doctor?

We are so lucky to be 20 minutes away from a major children’s hospital (CHOP-Children’s Hospital of Philadelphia), so I have been referred to many of Maddie’s specialists by our neuromuscular treatment team there. However, in a few cases these referral haven’t been a good fit for my family and so I sought out the advice of other parents (some with children who have congenital myopathy and some who don’t).

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

I think the healthcare system works best for strong patient advocates. Getting what Madeline needs in a timely manner often requires persistence and frequent follow up on my part. Waiting around for an unreasonable amount of time can be the norm unless good clear communication is established with the medical team.

I make it a priority to find a healthcare provider that is willing to communicate by email, phone, or even cell phone. There are times when we have been on waiting lists for months, usually it helps to have the referring doctor call to expedite the process, or simply look elsewhere for the treatment if it was available sooner by an equally good provider. I have changed Maddie’s doctors on more than one occasion. We found a great fit right away with her pediatrician and neuromuscular specialist, but we had more trouble finding a feeding specialist, pulmonologist and especially an ophthalmologist.

I have found that I am not comfortable with physicians who are overly paternalistic. I tend to have strong opinions about which treatments are appropriate for Madeline and if I voice a concern, I expect an honest thoughtful discussion about it. If this doesn’t happen, I just look for another healthcare provider who is willing to take my opinion, as Maddie’s mother, seriously. Many treatments have a risk/benefit ratio and no one but our family can make the decision about what risks are worth taking when it comes to Maddie’s life and health.

Has your diagnosis had any health insurance implications for you?

Having a child with CNM forces you to think about healthcare more, the co-pays, the benefit limits etc. Before Maddie, I rarely accessed the healthcare system and now we tend to max out our benefits especially in areas like physical therapy. When I changed jobs to spend more time with Maddie, we were at risk for a gap in healthcare and that prospect was very scary. We had to spend extra money to COBRA my healthcare benefits over that time, but we just couldn’t take any chances. A simple upper respiratory illness ended in a three day hospital stay for Maddie last January. Going without healthcare for even a month isn’t an option.

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

After Maddie was just born and we were still seeking a diagnosis, I would blog about our medical and emotional journey on a MDA website. I received several amazing emails from individuals that felt Maddie sounded like them as a child. Their emails were filled with their accomplishments in life and the ways they rose above their challenges with muscle disease to form relationships, love their families and find their passion for life. One man in particular told me his parents never focused on his diagnosis. He was just another person in the family with his own unique strengths and weaknesses. I hope to approach Maddie’s life this way. To treat her as an individual with her own distinctive set of strengths and weaknesses and to never let one single thing or diagnosis define her.

What is Madeline’s favourite book / film / music?

Maddie says her favorite movie is ‘Brave’, her favorite music is ‘kids music’ and her favorite songs are ‘Old MacDonald had a Farm’ and ‘Firework’ by Katy Perry. She loves to go and get new books at the library almost every week with her Nana, but she doesn’t have a favorite book right now.

What dies Maddie want to be when she is older?

Madie wants to be a cook or a doctor right now.

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

We have no idea what the future holds, so enjoy the moment.

Corinna

What form of CNM/MTM do you have?

I have been diagnosed with the recessive form of CNM/MTM.

When did you first get diagnosed?

I was 11 years old (1992) when they finally were able to put a name to my disability.

What symptoms prompted your diagnosis?

General skeletal weakness, unable to walk very far, run, walk up steps, get up from the floor, get up from a chair and not the best balance either.

How long did it take to get you diagnosis?

It took 10 years for the diagnosis.

How were you diagnosed?

I had very many muscle biopsies and also blood tests.

What impact did the diagnosis have on you?

It was wonderful to have a name for the condition, but unfortunately at that time we could not find out much about the condition.

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

As I was only a child myself and all my family could see that I was a lot weaker than all my siblings, cousins etc they were also quite relieved to have a name for the condition.

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

The big implication that the diagnosis had on my family was that as there was no family history of this condition anywhere, my parents had to go and have muscle biopsies which as we all know isn’t the best experience, which also did not shed any light on where the condition stemmed from as neither one of my parents’ results showed that they where carriers of the condition so it is quite a mystery to know where I have had this condition from.

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

It is quite a difficult condition to explain to people, it has affected me with the reactions of people to the condition, I have lost count of the times people have thought that I was drunk! At the present moment it is affecting me quite a great deal more than it ever has as I would like to become a mother and my husband would love to be a father but we are in limbo at the moment to what to do.

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

Keep positive there will be answers for you.

What are your current symptoms?

My current symptoms are similar to what they have always been, weakness of the skeletal system, which generally means that I am unable to walk for long periods of time, unable to run, walk up steps, quite unsteady on my feet especially when the ground is uneven.

What treatment are you having and have you had?

I have never had a great deal of treatment, the most I have had was a few weeks of intensive physiotherapy. But I do make sure that I keep fit, I will try and do at least 1/2 hour of exercise every other day. The exercise mostly consists of stretching and going on my stepper machine to try and strengthen my leg muscles.

How did you find a doctor?

Was referred to a specialist when I was a child, and once I was considered an adult was sent to an adult Muscular Consultant who specialises in all kinds of muscular skeletal problems.

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

When I was a child I did get to see all the best consultants but unfortunately once I was considered an adult I haven’t had the best experience.

Has your diagnosis had any health insurance implications for you?

No not really.

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

It might seem a bleak place now, but life is what you make it, listen to your body and it will tell you how far to push it. I have always thought of having cnm / mtm as a bit of a challenge for me and have given myself goals to achieve in life, yes it is always 10 times as hard and a million times more frustrating but I have achieved everything I have wanted to do, I have a good job a lovely home and a wonderful loving husband and a very loving and supportive family. Keep your head held high and don’t let the frustrations of everyday life get to you, let cnm / mtm make you a stronger person as it has made me.

What’s your favourite book/film/music?

I absolutely love pop music, my favourite film is at the moment ‘Marley and Me’, my favourite book at the moment is ‘Faceless’ by Martina Cole.

What did you want to be when you were younger?

I wanted to be a hairdresser when I was younger.

What is a favourite/memorable event from your childhood?

Playing in the garden with all my siblings and cousins on a sunny day having fun in and out of the paddling pool.

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

My parents have had the most influence on my life as they have always made sure that I am realistic about my capabilities, they haven’t wrapped me up in cotton wool. They have supported me in everything that I have done, and as a result I think that has made me a very contented and positive person.

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

The old cliché ‘make the most of life’, ‘do what you want to do and don’t let anyone hold you back’.

Scott

What form of CNM/MTM do you have?

The form of centronuclear myopathy that I have is dominant. I know this because I was recently tested and found out that I have the Dynamin 2 gene.

When did you first get diagnosed?

I was first diagnosed at the age of four.

What symptoms prompted your diagnosis?

The symptoms that prompted the diagnosis are: I had a very weak cry, my body was extremely lethargic, lots of saliva, and difficulty swallowing. How long did it take to get your diagnosis? From a muscle biopsy, we received my diagnosis immediately.

How were you diagnosed e.g. muscle biopsy?

I was diagnosed by the doctors performing a muscle biopsy. They took muscle from my left arm.

What impact did the diagnosis have on you?

The diagnosis did not really have that much of an impact of me. I was too young to know the difference. For my parents, it answered unknown questions they had for a long time.

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

My family has always been very supportive. Originally, when I was younger, the doctors told my parents that I had Myotubular Myopathy. This past year my parents and sister took a blood test to see if they were carriers of the CNM / MTM gene. We received the results a few weeks ago and the results show that no one is the carrier. They then informed me that the term myotubular myopathy is now linked to the X-linked form and the name of the disease that I have is centronuclear myopathy because of the Dynamin 2 gene. We shared the results with my family and they are very supportive. My family is the best!!!

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

They had to learn how to deal with a chronic disease and helping me through it.

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

Find a great neurologist who has experience with muscle diseases.

What are your current symptoms?

My current symptoms are that I am extremely thin, have weakness now with my respiratory system as I no longer have the strength to cough up my secretions, and I am prone to pneumonia.

What treatment are you having and have you had?

When I was younger I had speech therapy. During school, I had physical therapy. I now use several breathing devices including a cough assist machine, nebulizer, and the VEST, along with a Bipap machine when I am sleeping.

How did you find a doctor?

I found my neurologist through the MDA Clinic and my pulmonologist through the Rehabilitation Institute of Chicago (RIC). My parents did a lot of research to find the best doctor in each field. All of my doctors write the books to educate other doctors, as well as research in the field. Not only are all my doctors brilliant; they all truly care about me.

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

My neurologist and pulmonary specialist are wonderful. Finding the best doctor ‘for you’ is the most important.

Has your diagnosis had any health insurance implications for you?

I was covered under my father’s insurance and now I have Medicare as well.

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

The best advice I would give anybody who has recently been diagnosed would be to tell the person who has it that he/she has the disease – the disease does not have them. Have a positive outlook on life. When somebody lives life with a negative attitude it makes them depressed. A quote that I wrote a couple years ago is … ‘Smiles are contagious. Spread them to everybody, everywhere, each and every day!’

What’s your favorite book/film/music?

My favorite book is ‘The Man Who Ate the World: In Search of the Perfect Dinner’. My favorite film is ‘RENT’. I love all sorts of music. It all depends on my mood and how much energy I have at that moment. I have every kind of music on my iPod.

What did you want to be when you were younger?

When I was younger I did not know for sure what I wanted to be when I grew up. However, from growing up in the hospital or going to rehab, I now know that I want a job where I help other children who are in hospitals. My goal one day is to be a Child Life Specialist at a Rehab Center such as the one at Rehabilitation Institute of Chicago.

What is a favourite/memorable event from your childhood?

This question is very hard for me to answer. I had the most amazing childhood. I have so many amazing memories. In every memory, my entire family enjoys being together and having fun. Here are a few: Swimming with dolphins in Mexico, going on amazing vacations all over the world, meeting and spending time with different celebrities from sports stars, to actors, to comedians, and even gold medal Olympians.

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

The people who have had the most influence in my life are my parents. I say this because they have always raised me to try everything, and experience all that I can. My parent’s motto has always been ‘If there is any way that Scott can do it … we are there’. They do this so I can experience as much as anyone can. They make endless phone calls and do a lot of research, Google for information, etc. so if there is even a chance I can try something, I do it!

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

The best advice I have been given is to live life to the fullest. That is what I do each and every day.

Learn more about Scott:

• Food glorious food
• Hospice patient savours chance to cook four course meal
• Meet Scott Crane, The determinator

Mike

What form of CNM/MTM do you have?

I have autosomal dominant form of centronuclear myopathy which is caused by the DNM2 gene.

When did you first get diagnosed?

I was diagnosed in 1998 after my daughter Toni was diagnosed with centronuclear myopathy. Previously, I had been diagnosed with a form of muscular dystrophy but on seeing Toni’s muscle biopsy result, doctors concluded that I must have centronuclear myopathy also. They now think my mother may have had centronuclear myopathy also, although this was never tested for – she went undiagnosed in her lifetime, dieing aged 81.

What symptoms prompted your diagnosis?

Trouble walking, difficulty climbing stairs and ladders, on the positive side I can still drive my Motability car.

How long did it take to get your diagnosis?

It took around 9 years; I first began to have problems around 1989 and was referred to a hospital in 1993, however I did not have a muscle biopsy until 1997 – a diagnosis of muscular dystrophy followed. Had Toni not been diagnosed with centronuclear myopathy, my own diagnosis would most probably have taken longer or may not have been forthcoming for some time.

What impact did the diagnosis have on you?

It was worrying and stressful as I did not know how fast to expect the condition to progress. A couple of years after my diagnosis I took redundancy because I felt I could no longer cope with tasks at work such as steps, stairs, running and lifting. However, I try to remain positive and although I was told there was no way of knowing what the the future held, since my diagnosis I have flown in vintage aircraft, sat in Alpine snow at 11,000 feet, traveled to Canada, Norway, Italy, Austria, Germany, Slovenia (yes I do love wild mountains) – credits are due to Di my ‘minder’/wife.

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

Yes, in the beginning – they were also worried and concerned about what the diagnosis would mean in the future.

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

Be stubborn and make sure you get one as it helps mentally to come to terms with what is wrong. Also, without a definite diagnosis you can’t get help in terms of support from an employer or the state benefits you may be entitled to.

What are your current symptoms?

General weakness, trouble with stairs, walking and getting out of chairs.

What treatment are you having, and have you had?

Hydrotherapy and physiotherapy.

How did you find a doctor?

Referred from my local hospital to see a specialist.

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

Both good and bad; in many cases they are lacking in knowledge of muscle diseases. They haven’t heard of muscular dystrophy let alone centronuclear myopathy. A number of years ago one GP actually asked me when I was going to get better.

I am fortunate that I live a half hour drive from the Neuromuscular Centre in Winsford, a specialist centre which treats people with muscle disease but it is currently the only centre in the UK. If the centre were not on my doorstep, there would be no specialist treatment available to me.

Has your diagnosis had any health insurance implications for you?

Higher premiums for holiday insurance – I would always recommend checking around and not taking the first price offered.

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

Nelson Mandela said ‘Do not judge me by my successes, judge me by how many times I fell down and got back up again’. Educate yourself and find out as much as you can about your condition so that you can advocate for yourself. Try to join a community or support group and do your best to remain positive, if you really want to do something, there are ways to get around most problems.

What is your favourite book, music, film or other hobby?

I very much enjoyed the Shogan novels by James Clavell. I am not big on films but enjoy a range of music including classical, country, folk and pop – I enjoy going to concerts and am looking forward to seeing Brian May (Queen guitarist) and Kerry Ellis (West End and Broadway star of Wicked, We Will Rock You and Oliver) perform together later this year.

I am a licensed radio amateur, having passed the City and Guilds radio amateur exam in 1983. I use the callsign G1CZU in most of Northern Europe and Canada and have been involved with the local scouts Jamboree on the Air event for 27 years now.

Over the last 15 years a good friend and I have spent a lot of time building, repairing, recycling and donating computers; approximately 400 computers have been worked on for OAP’s, school children, university students, families who could not afford to buy new machines and charities, family and friends.

What did you want to be when you were younger?

I would have liked to work with aircraft – I used to spend a lot of time at airfields watching aircraft when I was younger and was a member of The London Gliding Club in Dunstable. In my late teens I became an airport fire security officer, which was the starting point for 35 years as a fire / security officer protecting people, fine arts, power stations and research facilities. The roles were very active and often involved climbing vertical ladders of 90 – 100 feet.

What is a favourite/memorable event from your life?

My earliest memory is aged 3/4 years old sitting on the tailboard of a removal lorry with our wirehaired fox terrier, moving from a city side street house in Northampton to a bungalow in the Northamptonshire countryside, two miles from the nearest small town with open country side front and back. Aged 16, I experienced my first trip out of UK to Germany, travelling 2,000 miles all around the country including the Black Forest. More recently, I parascended over The Gulf of Mexico and flew in a 50+ year old DHC2 Beaver float plane over the coast of Vancouver Island, British Columbia, Canada.

What is the best advice you have ever been given?

I like the following wise words from the Dalai Lama and Mahatma Ghandi ‘With realization of one’s own potential and self-confidence in one’s ability, one can build a better world’ and ‘You must not lose faith in humanity. Humanity is an ocean; if a few drops of the ocean are dirty, the ocean does not become dirty’.