INDIVIDUAL WITH LGMD: Soralla
LGMD “Spotlight Interview” Name: Soralla Age: 28 Country: United States LGMD Sub-Type: LGMD 2A/R1 calpain 3-related At what age were you diagnosed? I was diagnosed at age 23. What were your first symptoms? My symptoms at the beginning were light weakness from my lower body, it was hard to go up the stairs as fast as I was used to, or getting up from the floor especially when we would sit in the quad in Physical education class. Keep in mind these symptoms started in the 11th grade of high school. Yet I was not diagnosed until I was [...]
INDIVIDUAL WITH LGMD: Kae
Name: Kae Age: 29 yrs. old Country: Canada LGMD Sub-Type: LGMD 2B/R2 Dysferlin-related / Miyoshi Myopathy At what age were you diagnosed? I was diagnosed with LGMD when I was 17 years old. What were your first Symptoms? Not being able to walk on my tippy-toes, jump high, climb 2 steps at a time, or run as fast starting around age 14. Do you have other family members who have LGMD? Yes, my older brother also has LGMD. What do you find to be the greatest challenges in living with LGMD? The greatest challenges [...]
INDIVIDUAL WITH LGMD – Saira
Name: Saira Age: 29 Country: Indian living in the UAE LGMD Sub-Type (if known): LGMD 2B/R2 Dysferlin-related At what age were you diagnosed: I was diagnosed at the age of 16. I got the genetic confirmation in February 2020. What were your first symptoms: Falling all of a sudden and getting up from sitting down on the ground were the first symptoms. Do you have other family members who have LGMD: No, none of my family members have LGMD. I am the only one diagnosed with LGMD. What do you find to be the greatest challenges in living [...]
INDIVIDUAL WITH LGMD: Eric
LGMD “SPOTLIGHT INTERVIEW” Name: Eric Age: 23 yrs. old Country: USA LGMD Sub-Type: LGMD 2B/R2 Dysferlin-related At what age were you diagnosed: When I was two, I was misdiagnosed with Muscle Myopothy. Two decades later, I was accurately diagnosed with LGMD. What were your first symptoms: My first symptoms were, delay in speech, walking poorly, and I couldn't sit still. Do you have other family members who have LGMD: Nope, I am the only one in my family with LGMD. What do you find to be the greatest challenges in living with LGMD: There are a bunch of challenges, the [...]
INDIVIDUAL WITH LGMD: İbrahim
LGMD “SPOTLIGHT INTERVIEW” Name: İbrahim Age: 55 yrs. old Country: Turkey LGMD Sub-Type: LGMD 2B/R2 Dysferlin-related At what age were you diagnosed: I was diagnosed at the age of 25. What were your first symptoms: At first, I was feeling tired in repetitive movements. The weakness appeared to start in my ankles. It was more in my left foot. Do you have other family members who have LGMD: No, there is no one is my family who has this same diagnosis. What do you find to be the greatest challenges in living with LGMD There was mild fatigue in [...]
INDIVIDUAL WITH LGMD: Tasha
“LGMD Spotlight Interview” Name: Tasha Age: 27 Country: United States LGMD Sub-Type: LGMD2B At what age were you diagnosed: I was diagnosed at age 12. I was a 6th grader at that time in elementary school. What were your first symptoms: Earliest symptoms were when I was a toddler. As my mom would explain, I would trip on a blade of grass and fall down. We really noticed something wasn’t right when I played softball and couldn’t run right. I would lean my shoulders back, stick my stomach out, and run on my tippy toes. To this I received the [...]
Individual with LGMD: Rodrigo
LGMD "SPOTLIGHT INTERVIEW" Name: Rodrigo Age: 29 yrs. old Country: United States LGMD Sub-Type: LGMD2B / Myoshi Myopathy At what age were you diagnosed: I was diagnosed with LGMD2B at the age of 24. What were your first symptoms: My symptoms appeared around the age of 17. Do you have other family members who have LGMD: I have 2 brothers who show symptoms but have not been diagnosed. What do you find to be the greatest challenges in living with LGMD: Mobility is my greatest challenge. What is your greatest accomplishment: My greatest accomplishment is in allowing my artistic talent [...]
INDIVIDUAL WITH LGMD: Aric
LGMD "Spotlight Interview" Name: Aric Age: 22 yrs. old Country: United States LGMD Sub-Type: LGMD2B At what age were you diagnosed: I was diagnosed at the age of 21. What were your first symptoms: My first symptoms were not being able to climb stairs or stand on my tip toes. Do you have other family members who have LGMD: I do not. What do you find to be the greatest challenges in living with LGMD: In my normal day, I have trouble walking up stairs and getting out of my car -- things that most people would never think [...]
ORGANIZATION: Jain Foundation
NAME OF ORGANIZATION: Jain Foundation WEBSITE: www.jain-foundation.org FACEBOOK: www.facebook.com/JainFoundation/ TWITTER: https://twitter.com/JainFoundation WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: Dysferlinopathy (LGMD2B/Miyoshi Myopathy Type 1), which are caused by mutations in the dysferlin gene. IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW CAN PATIENTS JOIN? Yes, we have a registry for patients with dysferlinopathy. We encourage patients to contact us at [email protected]; more details about the registry can be found at https://www.jain-foundation.org/patient-physician-resources/patient-registration Is your organization a Non-Profit? If so, what type: We are incorporated as a private non-profit foundation in the U.S. As such, we don’t [...]
INDIVIDUAL WITH LGMD: Kourtney
LGMD “SPOTLIGHT INTERVIEW” Name: Kourtney Age: 23 yrs. old Country: USA LGMD Sub-Type: LGMD2B / Miyoshi Myopathy […]
