LGMD: “Spotlight Interview”

Nom: Yasemin

L'âge: 4 years old

Pays: The Netherlands

LGMD Sous-type: LGMD 2A/R1 calpain 3-related

À quel âge avez-vous été diagnostiqué ??

Our daughter was diagnosed at the age of 2.

Quels ont été vos premiers SYMPTÔMES ?

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.

Avez-vous d'autres membres de votre famille qui sont atteints de LGMD ?

No one else in our family has LGMD.

Quels sont, selon vous, les plus grands défis à relever pour vivre avec le LGMD ??

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

Quelle est votre plus grande RÉALISATION ?

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

Comment le LGMD vous a-t-il influencé pour que vous deveniez la personne que vous êtes aujourd'hui ?

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.

Que voulez-vous que le monde sache sur le 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.

Si votre LGMD pouvait être "guérie" demain, quelle serait la première chose que vous souhaiteriez faire ??

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.