Laura's interview
Error
How did all start?
I was always weaker than my peers as a child but it was ignored. By high school I would fall up the stairs. In my mid twenties I began having severe fatigue, palpitations and increased weakness.
Do you already have a diagnosis? How long did it take you to get it?
I was finally diagnosed in 2013, I spent 15 years trying to convince cardiologists to take me seriously. It wasn’t until my younger brother nearly died of heart failure at age 36 and was found to have a genetic mutation that I was taken seriously and treated. I have a genetic mutation in the LMNA gene and it causes many illnesses.
For what medical specialties have you been treated? What has been the most useful specialty for your?
Cardiology is the most beneficial specialty for me because I have Class IV heart failure, dilated cardiomyopathy, AFib and Vtach. I am pacemaker dependent and will eventually require a heart transplant Neurology monitors my Emory Dreyfus Muscular Dystrophy type 2 Pulmonologist helps with the muscle weakness that affects my breathing GI helps me with the pancreatic and GI issues
What has been the most useful thing for you so far?
Having a diagnosis and understanding of my medical issues has allowed me to finally receive care. Without the genetic testing, I would probably already be dead
What have been your biggest difficulties?
I have struggled for years just to receive care. I have had doctors tell me that my issues are “all in my head”. I have been told I am just need to diet and exercise. And I have been told I am just lazy. All the years I fought to exercise, I did every diet known to man and I never got any stronger. Unfortunately, all those years caused me significant muscle damage that I can never regain.
How has your social and family environment reacted? Have your social or family relationships changed?
I do not have any social friendships now that I stopped working. My husband cares for me and helps me. I used to garden and enjoy being outside. Now I stay indoors for the most part. I don’t go anywhere or do anything. I struggle to spend time with my grand daughter because I can’t keep up with a 2 year old.
What things have you stopped doing?
Gardening Being able to Brush my hair Baking Crocheting Babysitting my grand daughter
What do you think about the future?
I worry about how my life will end but I try to keep myself from dwelling on it. I want to enjoy each day and spend as much time with my family as possible. I participate in research trials and submit my blood and tissue samples in the hopes that someone will find a way to help people like me. Unfortunately both of my children also have this genetic mutation.
So far, which years have been the best years in your life? What have you done during them?
My 20s were the best years. I went to college, got married, had my 2 sons. I worked as a Registered Nurse until age 48. I raised my children and enjoyed time outdoors and in the garden.
What would you like to do if you didn’t have your condition?
I would have remained on my large property where I was living a self sustaining lifestyle and enjoying my life. I would have still been working as an RN taking care of patients. A job that I love!
If you had to describe your life in a sentence, what would it be?
Woman who has survived untold atrocities and yet; I survive.
Finally, what advice would you give to a person in a similar situation?
Never give up! Fight to get all the care you deserve.
