LGMD "焦点访谈"

名称:  Brenda  年龄: 55 岁

国家: 美国

LGMD 子类型: LGMD2A - 又称钙蛋白酶病

 

您在几岁时被确诊:

I was diagnosed when I was 50 years old.

您最初的症状是什么？:

My first symptoms included:  falling, wrist drop, an unusual gait when walking with my hips out in front, leg cramps and rapid weight loss.

您是否有其他家庭成员患有 LGMD：

No other family member has LGMD.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

The greatest challenge in living with LGMD is that I look normal and the disease if forever.

您最大的成就是什么？:

Some of my greatest accomplishments include:  skiing the Alps, sea-kayaking the Atlantic coast, sea-kayaking Lake Champlain, and rollerblading the State of Vermont.  In addition, raising a healthy 17 year old daughter and being married for 25 years to an exceptional husband who loves me dearly no matter what!  I have also maintained a job as the Recreation Director of Vermont’s only 5-Star Resort for 22 years.

LGMD 是如何影响您成为今天的自己的？

I have a positive attitude and stay healthy and happy no matter what.

您希望世界了解 LGMD 的哪些方面？:

I want to tell everyone that I am still the same Brenda who use to dance every chance I got and do cartwheels and backbends on the sandy beach at Gay Head Cliffs in Martha’s Vineyard.  The one who was first to get up slalom on water skis, the first to downhill, cross-country and telemark ski and first to ski the alps in Europe.  First to ski the headwall at Mt. Washington, Tuckerman’s Ravine.  The one to ski all the black & double black diamond trails at Killington ski Resort in Vermont including all the wood’s trails for 30 years.  I will never let this disease label me or bring me to a bed ridden state.  Dr. Anthony Amato said “Good Long Life” ahead at 50 when I was diagnosed.  I want to let the world know that someone with a disability is just like you!

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

Dance with my husband without fatigue.  Ski the powder trails with perfect turns.  Walk on a sandy beach without fatigue.  Hike at a good pace again with no joint pain or wrist drop.  Bike with the ladies rides and be able to keep up.  Fat tire bike on the snow.

如需阅读更多 "LGMD 焦点访谈"，或自愿参加即将举行的访谈，请访问我们的网站： https://www.lgmd-info.org/spotlight-interviews