LGMD "焦点访谈"

NAME:  Hillary   年龄  32 yrs. old

国家：  USA

LGMD 子类型：  LGMD2A / Calpainopathy

 

您在几岁时被确诊:

我在 13 岁时被确诊。

您最初的症状是什么？:

My first symptom were Tight Achilles tendons, high arches, and a slow runner. I started running just like my older brother, who was diagnosed with LGMD2A at the same time I was.

您是否有其他家庭成员患有 LGMD：

Yes, my older brother (5 years older) also has LGMD2A.

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

The hardest thing about LGMD2A is that it is constantly changing. Over the past 20 years, I have figured out creative ways to accomplish daily tasks. Tasks as easy as going to the restroom independently have needed to be adjusted and recreated many times. At one point I would use my forearms, forehead, and grab bars to literally climb up the wall from a seated position on the toilet. Because the disease is constantly changing, my workarounds and “solutions” only work for a few years and then I am back to the drawing board to figure out something new.

您最大的成就是什么？:

My family is my greatest accomplishment. I got married at age 23 when I was still a very able-bodied individual. In the span of 9 short years, I am now a full-time wheelchair user. My husband and I have had the privilege to adopt two beautiful children. My husband and two kids are my everything. Life isn’t always easy, but with these 3 by my side (or on my lap) I am reminded how beautiful life really is. When I was first diagnosed I always worried how I would chase after my kids or save them from running into the street. I never pictured myself in a wheelchair chasing them! Did you know that wheelchairs can cruise up to 7 miles per hour?! Turns out I had nothing to worry about. I am able to work part-time from home and balance my responsibilities as a wife and mother.

LGMD 是如何影响您成为今天的自己的？

When I was 13 yrs. old I was playing basketball, volleyball, and softball. Sports were my everything. As one can imagine, the diagnosis was a total shock and I was in denial for a while. During tryouts for the JV volleyball team, I was completely shocked that my coaches didn’t think I could keep up. They decided to let me play, but at the end of the season, I had accepted the fact that I wasn’t as fast as my teammates. This came at quite the emotional blow. Luckily, with the influence of my parents and friends, I decided to try new things and I ran for student government and was an editor on the yearbook staff. Keeping busy helped and I found new things that I loved. The experiences and opportunities I had helped me get a scholarship for college and lead to more leadership opportunities on my college campus. Additionally, I have had the opportunity to work in the hotel industry for the past 14 years and now have a position that allows me to work from home. Staying busy has always been one of the best remedies for my mental health, and to be honest I don’t remember a time I wasn’t busy!

您希望世界了解 LGMD 的哪些方面？:

Raising awareness for rare diseases is never an easy task. When you see the firefighters out Filling the Boot, or see the Shamrocks out in local businesses, please keep donating. That money helps further research and it helps send kids to MDA camp. I have hope that the research being performed today will change lives.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

The first thing I would do is chase after my kids, throw them up in the air, and play until I was dizzy!

 

* * * 欲了解更多 "LGMD 聚焦访谈 "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