COUNTRY: United Kingdom
LGMD Sub-Type: LGMD 2A / Calpainopathy
AT WHAT AGE WHERE YOU DIAGNOSED: 18 yrs. old
WHAT WERE YOUR FIRST SYMPTOMS:
I would fall over when trying to run & also struggling standing up from a chair or the ground.
DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:
No , I’m the only one, no history on either parents side of the family.
WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH 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.).
WHAT IS YOUR GREATEST ACCOMPLISHMENT:
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.
HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
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.”
WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
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.
IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
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.