LGMD: “Spotlight Interview”

Nome: Yasemin

Idade: 4 years old

País: The Netherlands

LGMD Sub-tipo: LGMD 2A/R1 calpain 3-related

Com que idade foi diagnosticado?

Our daughter was diagnosed at the age of 2.

Quais foram os seus primeiros SINTOMAS?

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.

Tem outros familiares que sofrem de LGMD?

No one else in our family has LGMD.

Quais são, na sua opinião, os maiores desafios de viver com a LGMD??

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

Qual é a sua maior realização?

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

Como é que a LGMD o influenciou a tornar-se a pessoa que é hoje?

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.

O que quer que o mundo saiba sobre a 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.

Se a sua LGMD pudesse ser "curada" amanhã, qual seria a primeira coisa que gostaria de fazer??

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.