INDIVIDUAL WITH LGMD: Heather
Name: Heather Age: 60 years old Country: USA LGMD Sub-Type: LGMD2A/R1 calpain 3-related At what age were you diagnosed? I was diagnosed at the age of 30. What were your first SYMPTOMS? My first symptoms included walking with a side-to-side gait, struggling to do stairs, and falling. Do you have other family members who have LGMD? No, I am the only one in my family with LGMD. What do you find to be the greatest challenges in living with LGMD? The greatest challenge for me is to stay as independent as possible without assistance. So far, I’ve been [...]
INDIVIDUAL WITH LGMD: Boonsub
Name: Boonsub Age: 31 Country: THAILAND LGMD Sub-Type: LGMD 2A/R1 calpain3-related At what age were you diagnosed? I was diagnosed at the age of 20. What were your first symptoms? Rhabdomyolysis (Muscle pain and dark urine) due to heavy exercise. Do you have other family members who have LGMD? No, I do not have any family members with LGMD. What do you find to be the greatest challenges in living with LGMD? Since I was diagnosed, running and climbing the stairs have been challenging. Thus, I have no opportunity to participate with others to do adventurous activities. What is [...]
INDIVIDUAL WITH LGMD: Yasemin
LGMD: “Spotlight Interview” Name: Yasemin Age: 4 years old Country: The Netherlands LGMD Sub-Type: LGMD 2A/R1 calpain 3-related At what age were you diagnosed? Our daughter was diagnosed at the age of 2. What were your first SYMPTOMS? She doesn’t have any symptoms yet. Because of the fact she grows very slowly, they did some testing at the hospital and discovered that she has very high CK levels. After further testing, they found out that she has LGMD 2A/R1. Do you have other family members who have LGMD? No one else in our family has LGMD. What do you [...]
INDIVIDUAL WITH LGMD: Sophia
LGMD “Spotlight Interview” Name: Sophia Age: 8 Country: USA LGMD Sub-Type: LGMD 2A/R1 calpain 3-related At what age were you diagnosed? I was officially diagnosed at age 6 from genetic blood testing. What were your first symptoms? I had pneumonia when I was 4.5 and my mom brought me for blood work because I was sick for a long time. My liver enzyme levels were very high so the doctors started to look for a reason why. I also started walking on my toes. I was in and out of lots of hospitals and misdiagnosed for 1.5 years. It [...]
INDIVIDUAL WITH LGMD: Jade
LGMD "SPOTLIGHT INTERVIEW" Name: Jade Age: 20 years old Country: United States LGMD Sub-Type: LGMD 2A/R1 calpain 3-related At what age were you diagnosed? I was officially diagnosed in March 2021, so this is all still new to me. What were your first SYMPTOMS? The first time I noticed symptoms, I thought I was just dehydrated. I felt weak, my legs like jello, and pain in my hips. Now that I am aware of my diagnosis, I can look back and see symptoms from as early as the age of 12. I played softball and couldn’t make my [...]
INDIVIDUAL WITH LGMD: Sanjana
LGMD "SPOTLIGHT INTERVIEW" Name: Sanjana Age: 55 yrs. old Country: India LGMD Sub-Type: LGMD2A/R1 Calpain 3 - related At what age were you diagnosed? I was diagnosed at the age of 13. What were your first SYMPTOMS? Symptoms started showing around the age of five. I would toe walk while climbing stairs or walking uphill. I needed knee support while getting up from a seated position. I would balance on my toes while sitting in a squatting position. Do you have other family members who have LGMD? Yes, my two elder brothers also have been diagnosed with LGMD2A/R1. [...]
INDIVIDUAL WITH LGMD: Jasmine
Name: Jasmine Age: 24 years old Country: USA LGMD Sub-Type: LGMD 2A/R1 calpain 3-related At what age were you diagnosed? I was just recently diagnosed at the age of 24. What were your first symptoms? Toe walking was my first symptom. I’ve noticed weakness since I was a little girl. I remember in elementary school that when it was my turn to play basketball against the other team it took me forever to get up from the floor to run down to the other side of the court. I was using my hands on my knees to stand up. [...]
INDIVIDUAL WITH LGMD: Tatyana
LGMD “SPOTLIGHT INTERVIEW” Name: Tatyana Age: 33 yrs. old Country: Russia LGMD Sub-Type: LGMD 2A / R1 Calpain3-related At what age were you diagnosed: I was diagnosed with an unknown subtype of LGMD at 14-15. When I was 27 or 28, my diagnosis was confirmed genetically. What were your first symptoms: My first symptoms were difficulty with running, climbing stairs and also I never could do pull-ups. Do you have other family members who have LGMD: No, I’m the only one with LGMD in my family. What do you find to be the greatest challenges in living with LGMD: Acceptance [...]
INDIVIDUAL WITH LGMD: Denise
LGMD “Spotlight Interview” NAME: Denise AGE: 49 COUNTRY: New Zealand LGMD SUB-TYPE: LGMD 2A/R1 Calpain3-related AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed with LGMD when I was 18 years and received a confirmed diagnosis of LGMD 2A/R1 when I was 39 years old. WHAT WERE YOUR FIRST SYMPTOMS: My initial symptoms were difficulty with running and climbing stairs. DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: No, I am the only family member with LGMD. WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD: My greatest challenges have been losing arm strength, [...]
INDIVIDUAL WITH LGMD: Jillena
LGMD “Spotlight interview” Name: Jillena Age: 32 yrs. old Country: United States LGMD Sub-Type: LGMD2A - a form of Calpainopathy AT WHAT AGE WERE YOU DIAGNOSED : I was initially diagnosed with LGMD at the age of 21. And then, I received genetic confirmation of my LGMD2A subtype a couple months ago. WHAT WERE YOUR FIRST SYMPTOMS : After I had my second child, I began to notice that stairs became difficult for me. In fact, I would crawl up them. I had scoliosis so I just attributed my difficulty doing stairs to the scoliosis. But, then, I had my [...]
