Имя: Maria Возраст: 29 лет

Страна: США

LGMD Подтип: LGMD 1B

 

В каком возрасте вам был поставлен диагноз:

Initially, I was diagnosed at age two with SMA. I was then re-diagnosed at age 15 with limb-girdle muscular dystrophy.

Каковы были ваши первые симптомы:

My parents said I didn’t walk until 17 months. I also walked with a waddle and was using my arms to help me get up from a sitting position as a toddler.

Есть ли у вас другие члены семьи, страдающие LGMD:

No, I am the only person in my family with LGMD.

Что, по вашему мнению, является наибольшей проблемой в жизни с LGMD:

Mentally: The assumption that we do not live a normal life is the biggest challenge for me. Physically: Learning to accept the progression when I notice something got weaker.

Какое ваше самое большое достижение:

Getting my license and my own car. The process of doing so took a long two years. It felt like there was never an end in sight. Having my car has changed my life and helps me remain independent as possible.

Как LGMD повлиял на то, что вы стали тем человеком, которым являетесь сегодня:

It has definitely shaped my personality and who I am. My fierce personality comes from my determination to show others that we are able. My passionate side comes from fighting since day one, even as a child. Growing up with a disability has shaped me into more ways I could imagine. I know that this disease has made me into the Maria that everyone knows.

Что вы хотите, чтобы мир узнал о LGMD:

I want people to know that it is considered a rare disease so there is no treatment or cure. Also, I want to shout from the mountain tops that it is not MS!

Если бы ваш LGMD можно было "вылечить" завтра, что бы вы хотели сделать в первую очередь:

I’d run to pick up my five nieces and nephews. I’d go to the mall and pick out an outfit without having to worry about being to skinny to fit into anything. And then I would probably go putt putt. That’s definitely something I miss that used to be a huge part of my childhood. My dad would take my sisters and I almost every week as kids and so it became one of my favorite things to do.