LGMD: “Spotlight Interview”
Age: 4 years old
Country: The Netherlands
LGMD Sub-Type: LGMD 2A/R1 calpain 3-related
At what age were you diagnosed?
Our daughter was diagnosed at the age of 2.
What were your first SYMPTOMS?
She doesn’t have any symptoms yet. Because of the fact she grows very slowly, they did some testing at the hospital and discovered that she has very high CK levels. After further testing, they found out that she has LGMD 2A/R1.
Do you have other family members who have LGMD?
No one else in our family has LGMD.
What do you find to be the greatest challenges in living with LGMD?
We (parents) hope that our daughter grows wit a positive mind. And that a cure will be discovered before the onset of symptoms.
What is your greatest ACCOMPLISHMENT?
As parents, we hope to give her the feeling that she can be anything. Anything with a couple of limits.
How has LGMD influenced you into becoming the person you are today?
She is only 4 years old. We hope that she grows as a person with a strong character. We hope that we can do anything we can do to make he practical life easier for her.
What do you want the world to know about LGMD?
We want the world to know that this disease exists. And that a person with the diagnosis has needs and can easily participate in society.
If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do?
As parents we would celebrate and watch Yasemin grow up knowing that she can handle anything – even if mom and dad are gone one day.