LGMD "焦点访谈"

名称:  Deceena   年龄: 31 yrs. old

国家:美国

LGMD 子类型:   LGMD2A – also known as Calpainopathy

 

您在几岁时被确诊:

I was diagnosed at the age of 29.

您最初的症状是什么？:

Muscle weakness in my legs was my very first symptom. I was unable to go up stairs like a normal person, starting in 2008 following the birth of my second child. Doctors chalked it up to just having had a baby and gave me the advice to go exercise. I was only 22 and I knew there was something more going on. I only wish my doctors would have taken me more serious. I went to numerous doctors and specialists, all who said I was “fine”. I ended up finding a holistic based physician who uttered the words “Oh my goodness, why has nobody helped you?” He sent me to PT, and on my last day my PT asked me is anyone in my family had Muscular Dystrophy? (No). He mentioned to me there are forms which are recessive, and he suggested my doctor start finding appropriate testing and referrals for MD. This was the first person to ever mention the words “Muscular Dystrophy” to me, ever. I then found an amazing group on Facebook that allowed me to post videos of myself. Shortly after this, I was led to genetic research with the Jain Foundation, and was able to see Dr. Jerry Mendel which ended in a definitive diagnosis of LGMD2A. The process from my new provider, to genetic testing, to diagnosis was about 3 MONTHS after many YEARS of being told I was “fine” and to exercise. I received my diagnosis 关于 my youngest daughters 1^st birthday. A day I will always remember….

您是否有其他家庭成员患有 LGMD：

我的家族中没有人患有 LGMD。

您认为 LGMD 患者在生活中面临的最大挑战是什么？:

Currently, my greatest challenge is explaining to my children that I am unable to do certain activities, or run and play with them, or even list them up; and explaining why. It is very difficult sometimes to answer their questions. The second greatest challenge is having people make rude comments about how I should save the handicap parking for those with handicaps. I may look like a “normal” person, however, I DO have difficulty walking long distances and I can no longer go up stairs or a curb without the assistance of my husband.

您最大的成就是什么？:

I would say that my greatest accomplishment would be learning love and compassion for all. I never realized the emotional challenges those with a disability are faced with. Most would think it’s just physical, but it’s not. I have found a partner who chose to stand beside me and still marry me 9 days later. We had a very frank and difficult (for me) conversation about if we should continue on knowing the difficulties physically, emotionally, mentally we would be facing this awful disease. He could have walked away, knowing I had a progressive neurological disease, but he loves unconditionally and has taught me the true meaning of unconditional love and acceptance. He has taught me to love deeper and always, in every situation-even situations which we think are terrible. We have built a beautiful family which is my greatest accomplishment. I hope we can continue to lead by example with love and compassion, for our children to see and hopefully live. This world would be such a better place is people treated people like people, and not like their disability.

LGMD 是如何影响您成为今天的自己的？

Having LGMD has taught me how to advocate and speak up. I have had to advocate for myself for many years, telling physicians they were WRONG. Who does that?? This girl right here! This has inspired me to now become the voice 对于 others. I advocate wholeheartedly for those who are unable to, or those who may need some assistance. I look at having a disability as a gift. I am given opportunities that help define and shape the beliefs I have today. I will always speak up, even when it is uncomfortable and when nobody else wants to. I will always question my physicians, and I won’t stop. Having LGMD has turned me into this fierce person with the drive and determination I have today.

您希望世界了解 LGMD 的哪些方面？:

I don’t even know where I would start on this question. Mainly, those with LGMD are NO different than anyone without it. I still breathe and I still have feelings. I still love the same, and I still hurt the same. I want to be happy and have the same opportunities as those without MD. I am no different, except maybe a little more aware of how people treat people.

如果您的 LGMD 明天就能 "治愈"，您首先想做的是什么？:

The absolute first thing I would do would be running to my children, then wrestling with them on the floor, and jumping up with them and tossing them in the air. I miss this more than I can express in words. I was able to do this with my older children who are almost 12 and 9, but haven’t been able to do it with the younger two who are 6 and almost 3. After that, I would jump into my husband’s arms and just stay there for a moment. Then I would need to go for a run, a long run. Running was my activity of choice, which I haven’t been able to do for many years.

 

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