10/16/2016

NAZWA:  Annette               WIEK: 40-50 yrs old

KRAJ:  Ireland

Podtyp LGMD:   LGMD2B

 

W jakim wieku zostałeś zdiagnozowany?:

I was diagnosed at the age of 38 yrs. old

Jakie były pierwsze objawy?:

I was stumbling and falling.  I also had problems rising from a seated position and climbing stairs.

Czy masz innych członków rodziny cierpiących na LGMD?

No, I am the only person in my family with this diagnosis.

Co uważasz za największe wyzwanie w życiu z LGMD?:

Lack of awareness is prevalent.  In addition, many facilities in Dublin (transport, restaurants, some theaters) are not anywhere near wheelchair accessible.

LGMD has impacted my professional life as I am no longer able to work full time and there have been financial consequences of this.

Jakie jest twoje największe osiągnięcie?:

I try to remain positive and optimistic.  I am fortunate that I am able to maintain an almost independent life. I am delighted to be taking part in a clinical outcome study in Newcastle, UK (the people there are wonderful).

Jak LGMD wpłynęło na to, że stałeś się osobą, którą jesteś dzisiaj:

I appreciate what I can do and try not to get downhearted regarding the things that are no longer possible.

Co chciałbyś, aby świat dowiedział się o LGMD?:

I am blessed with a wonderful family and core group of friends who never let me down.

LGMD is a challenge but with a good support system in place, life can be good.  Greater funding allocations are imperative in order for LGMD to be treated and not be a life altering condition.

Gdyby jutro można było "wyleczyć" chorobę LGMD, co byłoby pierwszą rzeczą, którą chciałbyś zrobić?:

I would play with my beloved niece Emily, bring her to the park and do all the things a good auntie should do.

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