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?
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.