What form of CNM/MTM do you have?
I am diagnosed with centronuclear myopathy but do not know what form of the condition I have.
When did you first get diagnosed?
What symptoms prompted your diagnosis?
Pain, weakness, could not stand on tip toes, difficulty with stairs, falling often, balance issues and major fatigue.
How long did it take to get a diagnosis?
How were you diagnosed e.g. muscle biopsy?
EMG, muscle biopsy and multiple blood tests.
What impact did the diagnosis have on you?
Typical stages of grieving, but now I’m fighting back!
Have you explained CNM/MTM to family members and what was their reaction?
Yes – my mom did a biopsy too and has been very supportive, as have my husband and two kids. My entire family is very loving and supportive of my illness.
What implications do you think it has it had on your family?
More work for my husband, carrying in groceries etc.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
Do you have advice for people who are looking for a diagnosis?
Be your OWN advocate! Don’t settle for a negative doctor. Stay positive!
What treatment are you having, and have you had?
No treatment, however currently I am on the ‘Eat-Clean Diet’ and am gaining more strength and stamina every week. It’s the best thing I’ve ever done.
What are your current symptoms?
My symptoms the past five years have been extreme weakness (even a glass of water made my hands shaky as I brought it to my mouth), more than one flight of stairs was nearly impossible. I had to push myself up from a chair, I could not jump or stand on one leg, I could not open a water bottle, I could not pick up my children, I could not carry a large load of laundry, standing in one place (like in church) caused severe pain in my feet, my hands hurt severely while typing, my wrists hurt always, I was very fatigued / needed to lay down from 3-6 p.m. daily, I could not enter my home while carrying anything (the extra weight made the one flight of stairs too difficult).
Now though, since ‘eating clean’ (getting a LOT of protein), ALL symptoms have improved. I feel 75% better and can now carry things in from the car, I can carry my laundry, my feet don’t hurt as badly, I am now back in the gym, and I can jump (about 2″ off the floor, but it’s a big improvement). I no longer need the three hour rest / nap and I’m back in the kitchen baking (which was too painful before). I can do 40 pounds on the leg extension machine at the gym now. In my 20’s I could easily do 90 pounds but since my diagnosis I became weaker every year until I could no longer do the weight machines at the gym.
Because of the new diet, my myopathy has significantly improved. I am hoping my strength continues to improve. I’m not a doctor, but this diet has helped me so much! I have my children eating lean meats, nuts, veggies, fruits, and whole grains too now. It’s very strict, but well worth it. I haven’t told my MDA doctor of my improvements yet as I’ve only met with him once. My last appointment was in December when he told me I was 60% as strong as a normal ‘Healthy woman my age’.
How did you find a doctor?
I searched the internet to find my doctor in Charlotte, North Carolina. He is a neuromuscular specialist who has 20 + years of experience. He treats muscular dystrophy and myopathy patients as well as MS and many other illnesses but is not an MDA doctor.
What has been your experience of the healthcare system and healthcare professionals?
Mostly pessimistic/telling me I WILL need a wheelchair by age 50.
Has your diagnosis had any health insurance implications for you?
What advice would you give to someone who has just been diagnosed with CNM / MTM?
Stay positive and eat clean.
What’s your favourite book/film/music?
Book: The Purpose Driven Life by Rick Warren.
What did you want to be when you were younger?
What is a favourite/memorable event from your childhood?
Vacations at Grama and Paps and Aunt Carol and Uncle Bruce’s house.
Who do you think has most influenced you in your life and why?
God – my faith has helped me significantly.
What’s the best advice you’ve been given?
Eat clean and stay as fit as possible.