LGMD: “Spotlight Interview”

이름: Yasemin

나이: 4 years old

국가: The Netherlands

LGMD 하위 유형: LGMD 2A/R1 calpain 3-related

몇 살에 진단받으셨나요??

Our daughter was diagnosed at the age of 2.

첫 증상은 어떤 것이었나요?

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.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

No one else in our family has LGMD.

LGMD와 함께 생활하면서 가장 어려운 점은 무엇인가요??

We (parents) hope that our daughter grows wit a positive mind. And that a cure will be discovered before the onset of symptoms.

가장 큰 성과는 무엇인가요?

As parents, we hope to give her the feeling that she can be anything. Anything with a couple of limits.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

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.

LGMD에 대해 전 세계에 알리고 싶은 내용?

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.

내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇인가요??

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.