INDIVIDUAL WITH LGMD: Cyanne
LGMD “Spotlight Interview” Name: Cyanne Age: 29 Country: South Australia LGMD Sub-Type: LGMD Type 2i / R9 Dystroglycan-related At what age were you diagnosed? I was diagnosed with muscular dystrophy when I was just 2 years old. It wasn’t until I was 21 that I found out I had LGMD Type 2i. Or R9 now as the name has been changed. What were your first symptoms? The very first symptom my mum noticed was that I could not hold my head up when I was in a baby walker. Plus, I was not crawling when others my age were. [...]
LGMD RESEARCHER: Qi Lu
"LGMD SPOTLIGHT ON RESEARCH" LGMD RESEARCHER: Dr. Qi Lu Affiliation: McColl Lockwood Laboratory for Muscular Dystrophy Research Role or Position: Director, McColl Lockwood laboratory for muscular dystrophy research, Carolinas Medical center, Atrium Health, Charlotte What education and training did you have to arrive at your current position? I have a degree in medicine in China and obtained Ph.D. degree From London University, UK What led you to follow a career in research and in studying muscular dystrophy in particular? I had been trained as a pathologist for many years prior to my Ph.D. study in London, and naturally have been [...]
ORGANIZATION: LGMD2i Research Fund
NAME OF ORGANIZATION: LGMD2i Research Fund WEBSITE: http://www.lgmd2ifund.org/ FACEBOOK: https://www.facebook.com/jeanpierre.laurent.58173 WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus exclusively on LGMD2I IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN? We are aware of one registry: the Global FKRP Registry (https://www.fkrp-registry.org/). While it is based in the UK, it is an international registry, adapted to the nature of rare diseases. LGMD2I is a very rare disease, which means that the number of people affected by it is small from the point of view of drug developers. Because advanced clinical studies [...]
INDIVIDUAL WITH LGMD: Dan
LGMD “Spotlight interview” Name: Dan Age: 40 Yrs. Old Country: United States LGMD Sub-Type: LGMD2i At what age were you diagnosed: I was diagnosed at the age of 30. What were your first symptoms: My first symptom was leg weakness. I remember stepping over a roll of carpet and falling down because my leg gave out. I walked with an unusual gait. And, I was not able to do one sit up without grabbing my legs to pull myself up. Do you have other family members who have LGMD: No, I am the only one in my family with LGMD. [...]
ORGANIZATION: CureLGMD2i Foundation
NAME OF ORGANIZATION: CureLGMD2i Foundation WEBSITE: www.curelgmd2i.com FACEBOOK: www.facebook.com/CureLGMD2i/ WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: LGMD2i and The Dystroglycanopathies (FKRP) IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN? FKRP Registry at https://www.fkrp-registry.org Is your organization a Non-Profit? If so, what type: Yes, U.S.-based 501 (c)(3) tax-exempt public charity WHAT INSPIRED THE CREATION OF YOUR ORGANIZATION: CureLGMD2i was initially founded as the Samantha J. Brazzo Foundation by the Brazzo family in 2011, after their young daughter, Samantha, was diagnosed with LGMD2i. They realized that there were no other organizations raising [...]
INDIVIDUAL WITH LGMD: Zia
LGMD SPOTLIGHT INTERVIEW Name: Zia Age: 26 Country: Australia LGMD Sub-Type: Limb-Girdle Muscular Dystrophy type 2i AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed with Muscular Dystrophy at the age of two. After many tests and doctor visits, I was fully diagnosed Limb-Girdle Muscular Dystrophy type 2i at the age of 22. WHAT WERE YOUR FIRST SYMPTOMS: At the age of 1, Mum noticed that my twin sister and I weren’t walking, we weren’t even crawling properly more like shuffling on our bottoms. It was then that our Mum knew something wasn’t right. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE [...]
INDIVIDUAL WITH LGMD: Jill
LGMD Spotlight Interview Name: Jill Age: 33 yrs. old Country: United States LGMD Sub-Type: LGMD2i […]
INDIVIDUAL WITH LGMD: Lori
LGMD “SPOTLIGHT INTERVIEW” Name: Lori Age: 47 yrs. old Country: United States LGMD Sub-Type: LGMD2i […]
INDIVIDUAL WITH LGMD: Karen
LGMD “Spotlight Interview” Name: Karen Age: 54 Yrs. old Country: USA LGMD Sub-Type: LGMD 2I […]
INDIVIDUAL WITH LGMD: Anna
LGMD SPOTLIGHT INTERVIEW Name: Anna Age: 36 yrs. old Country: Canada LGMD Sub-Type: LGMD2I At what age were you diagnosed: I was initially diagnosed with a “non- specific muscle myopathy when I was a young child (sometime in grade school). Later in life, when I was 26, I was given a “working diagnosis” of LGMD. Finally, at the age of 36, I was formally / clinically diagnosed with LGMD 2I via genetic testing. What were your first symptoms: I’m not really sure what my first symptoms were because though I had this disease from birth my parents never talked [...]
