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.