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?
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!