INDIVIDUAL WITH LGMD: Becky
LGMD “Spotlight Interview” Name: Becky Age: 35 yrs. old Country: USA LGMD Sub-Type: LGMD2B […]
INDIVIDUAL WITH LGMD: Ralph
Name: Ralph Age: 24 yrs. old Country: South Africa LGMD Sub-Type: LGMD2B […]
INDIVIDUAL WITH LGMD: Darlene
LGMD “SPOTLIGHT INTERVIEW” Name: Darlene Age: 65 yrs. old Country: United States LGMD Sub-Type: Non-Dysferlin Miyoshi Myopathy At what age were you diagnosed: I was diagnosed at the age of 64. What were your first symptoms: In retrospect, I now realize that symptoms began in my 40’s or even earlier. I’ve always been active, but as the years went by, skills like running, skiing and skating became increasingly difficult, so I did other activities such as biking, kettlebells, weight and CrossFit training. I coped with my Raynaud’s symptoms by dressing warmer. Visible muscle wasting in my calves in [...]
INDIVIDUAL WITH LGMD: Adriana
LGMD “Spotlight Interview” Name: Adriana Age: 48 years old Country: Argentina LGMD Sub-Type: LGMD2B WHAT AGE WERE YOU DIAGNOSED: I was diagnosed at the age 20. WHAT WERE YOUR FIRST SYMPTOMS: My first symptoms included: difficulty climbing stairs, tiredness, and some falls. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: Yes, my brother also has LGMD. WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD: In the beginning the greatest challenge was the process of accepting the disease. Given that I am a very independent person with a very active life, today my biggest [...]
INDIVIDUAL WITH LGMD: Melanie
LGMD “Spotlight Interview” NAME: Melanie AGE: 33 COUNTRY: USA LGMD Sub-Type: LGMD2b (Dysferlinopathy/miyoshi myopathy) AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed one week before my 29th birthday. WHAT WERE YOU FIRST SYMPTOMS: I could not rise up on my toes, I had hammer toes (foot deformity) and was in pain and fatigued all the time. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: Nope, not one! WHAT DO YOU FIND TO BE THE GREATEST CHALLENGE TO LIVING WITH LGMD: Losing the ability to do everyday tasks and activates has made life quite [...]
INDIVIDUAL WITH LGMD: Emily
03/28/2016 LGMD “SPOTLIGHT INTERVIEW” Name: Emily Age: 29 yrs. old Country: United Kingdom LGMD Sub-Type: LGMD2B At what age were you diagnosed: I received confirmation of my LGMD2B diagnosis at the age 28 but at the age of 24 it was already suspected. What were your first symptoms: My first symptom was struggling to climb stairs and I also noticed that I couldn't stand on tip toes to reach books on my bookshelf Do you have other family members who have LGMD: No, it's just me - all by myself! What do you find to be the greatest challenges [...]
INDIVIDUAL WITH LGMD: Thomas
01/30/2016 LGMD “Spotlight interview” Name: Thomas AGE: 31 COUNTRY: Switzerland LGMD Sub-Type: LGMD 2B / Miyoshi Myopathy At what age were you diagnosed: My first diagnosis (biopsy) was at 28, followed by the proof with genetic test one year later. What were your first symptoms: That is not so easy to say. Now I know where I have to look at, so many examples out of my memories came up; in my childhood we had a steeply rising stair around our home, where I always had difficulties to climb because the steps are very short. In teen age I [...]
INDIVIDUAL WITH LGMD: Janet
LGMD “SPOTLIGHT INTERVIEW” - 01/07/2016 NAME: Janet AGE: 33 yrs. old COUNTRY: United States LGMD Sub-Type: LGMD2B AT WHAT AGE WERE YOU DIAGNOSED: I was originally misdiagnosed with Polymyositis at the age of 17. Years later at the age of 28, I was diagnosed with LGMD2B. WHAT WERE YOUR FIRST SYMPTOMS: I started having difficulty climbing stairs, running, dancing and unable to play soccer as well as any other sports. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: There is no family history of LGMD until me. WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH [...]
INDIVIDUAL WITH LGMD: Molly
11/30/2015 NAME: Molly AGE: 29 years old COUNTRY: United States LGMD Sub-Type: LGMD2B: dysferlinopathy/Miyoshi Myopathy At what age were you diagnosed: I started presenting symptoms when I was 17 and at the time I was told I was suffering from Guillain-Barre. When I was 19, my initial symptoms returned and worsened, however, this time I was diagnosed with polymyositis. After 3 years in and out of the hospital I was finally properly diagnosed via DNA testing with Miyoshi Myopathy and the age of 22. What were your first symptoms: My first symptoms were difficultly walking up stairs and getting [...]
INDIVIDUAL WITH LGMD: Annette
10/16/2016 NAME: Annette AGE: 40-50 yrs old COUNTRY: Ireland LGMD Sub-Type: LGMD2B At what age were you diagnosed: I was diagnosed at the age of 38 yrs. old What were your first symptoms: I was stumbling and falling. I also had problems rising from a seated position and climbing stairs. Do you have other family members who have LGMD: No, I am the only person in my family with this diagnosis. What do you find to be the greatest challenges in living with LGMD: Lack of awareness is prevalent. In addition, many facilities in Dublin (transport, restaurants, some [...]
