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