01/24/2015:

 ИМЯ: Andrew    

ВОЗРАСТ: 34

СТРАНА: United Kingdom

LGMD Подтип: LGMD 2A / Calpainopathy

AT WHAT AGE WHERE YOU DIAGNOSED: 18 yrs. old

КАКИЕ У ВАС БЫЛИ ПЕРВЫЕ СИМПТОМЫ:
I would fall over when trying to run & also struggling standing up from a chair or the ground.

ЕСТЬ ЛИ У ВАС ДРУГИЕ ЧЛЕНЫ СЕМЬИ, СТРАДАЮЩИЕ LGMD:
No , I’m the only one, no history on either parents side of the family.

ЧТО, ПО ВАШЕМУ МНЕНИЮ, ЯВЛЯЕТСЯ НАИБОЛЬШЕЙ ТРУДНОСТЬЮ В ЖИЗНИ С LGMD:
As a full time electric wheelchair user the biggest challenge I face is using the toilet. Being sat down so much I find I suffer from IBS from time to time and being unable to stand to transfer onto & off the toilet it makes traveling a bit of a challenge. Traveling by airplane is also very challenging.

We have an 18 month old baby (our first) & at the moment my biggest challenge is being a good dad, especially when I can’t lift him up or get on the floor & play cars with him.

Having to rely on family & friends for simple DIY things such as putting up a curtain or a shelf. Getting used to having caregivers come into the family to help out

Feeling you should be able to help family & friends when they are going through tough situations (or just simply popping round for a cup of tea or helping people when they move house etc.).

КАКОЕ ВАШЕ САМОЕ БОЛЬШОЕ ДОСТИЖЕНИЕ:
Getting married and starting a family. Finding the right balance between work and home life. Developing a small student accommodation rental business. Becoming Managing Director of the family business (although this is far from accomplished as I’ve got great plans to take the business to new heights). Completing a Masters and PhD degrees.

КАК БОЛЕЗНЬ ЛГМ ПОВЛИЯЛА НА ТО, ЧТО ВЫ СТАЛИ ТЕМ ЧЕЛОВЕКОМ, КОТОРЫМ ЯВЛЯЕТЕСЬ СЕГОДНЯ:
It has taught me to be patient and if I focus my energies on something anything is possible. A well placed smile goes a long way and opens many doors (literally). You have to be positive and not dwell on what’s not possible but concentrate on what you can do , “where there is a will there is a way.”

ЧТО ВЫ ХОТИТЕ, ЧТОБЫ МИР УЗНАЛ О ЛГМД:
Not to take their health for granted , if they see someone struggling , be they disabled or simply old ask if they can help. Put their own problems into perspective and not moan about things that are insignificant.

ЕСЛИ БЫ ЗАВТРА ВАШ ЛГМД МОЖНО БЫЛО "ВЫЛЕЧИТЬ", ЧТО БЫ ВЫ СДЕЛАЛИ В ПЕРВУЮ ОЧЕРЕДЬ:
I like to think I would drive down to a beach , take my shoes off , walk at first and then run over the sand , go for a swim in the sea and then relax on the beach. Lay down on the grass in the sunshine on a warm summers day. In reality I would probably just sit down and then stand up and then sit down and stand up over and over because I could. It would be great to go skiing again and maybe scuba diving but really it would just be nice to be able to clean the house so my wife can take the weekend off while I shop , cook and generally spoil her.

It’s a dream which I believe will be a reality for us one day but in the meantime I’m not holding my breath letting life pass me by , now is the time to achieve things despite the disability.