VOLUNTEERS NEEDED…LGMD “Spotlight Interviews” By telling your story and sharing your experiences, you can help others understand what it is like to live with LGMD. You play an important role in this global awareness campaign. If you are interested
NAME OF ORGANIZATION: GFB ONLUS (GRUPPO FAMILIARI BETA-SARCOGLICANOPATIE ONLUS) WEBSITE: www.lgmd2e.org FACEBOOK: www.facebook.com/gfbonlus-1045732368903903 TWITTER: twitter.com/gfbonlus WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus on Limb Girdle Muscular Dystrophy type 2E (LGMD2E) IF YOU FOCUS ON A
LGMD “Spotlight Interview” Name: Heidi Age: 50 years old Country: United States LGMD Sub-Type: LGMD2E At what age were you diagnosed: I was diagnosed at the age of 33. What were your first symptoms: I was often stiff and sore,
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?
LGMD “Spotlight Interview on Research” LGMD RESEARCHER: Linda Lowes Affiliation: Nationwide Children’s Hospital, Columbus, Ohio USA Role or Position: Principal Investigator, Research Institute at Nationwide Children’s Hospital, Associate Professor Department of Pediatrics, The Ohio State University What education and training did you have to
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.
LGMD “Spotlight interview” Name: Nicole Age: 24 yrs. old Country: United States LGMD Sub-Type: LGMD 2A / Calpainopathy At what age were you diagnosed: I was diagnosed around 12 years old. What were your first symptoms: My very first symptoms
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
NAME OF ORGANIZATION: Beyond Labels & Limitations WEBSITE: www.BeyondLabelsLimitations.com FACEBOOK: https://www.facebook.com/groups/29111827568/ YouTube Channel: www.youtube.com/user/John71377 WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUS ON: LGMD2A / Calpainopathy IF YOU FOCUS ON A SUB-TYPE, IS THERE A REGISTRY AND HOW
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
LGMD “Spotlight Interview on Research” LGMD Researcher: Melissa Spencer Affiliation: UCLA University of California Los Angeles Role or Position: Professor of Neurology, Director of Neuromuscular Program, Co-Director of Center for Duchenne Muscular Dystrophy What education and training did you have
LGMD “Spotlight Interview” NAME: Mackenzie AGE: 22 yrs. old Country: USA LGMD Sub-Type: Unknown AT WHAT AGE WERE YOU DIAGNOSED: I was just diagnosed last year at the age of 21. WHAT WERE YOUR FIRST SYMPTOMS: My first symptoms included
NAME OF ORGANIZATION: LGMD2L Foundation WEBSITE: LGMD2L-Foundation.org Facebook: Https://www.facebook.com/LGMD2L-Foundation Twitter: @LGMD2L WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: We focus on Limb Girdle Muscular Dystrophy type 2L (LGMD2L) IF YOU FOCUS ON A SUB-TYPE, IS THERE A
LGMD “Spotlight Interview on Research” LGMD RESEARCHER: Mattia Quattrocelli Affiliation: McNally’s laboratory, Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL Role or Position: Postdoctoral Fellow What education and training did you have to arrive at your
LGMD “SPOTLIGHT INTERVIEW” Name: Mandine Age: 31 Country: France LGMD Sub-Type: LGMD2A / Calpainopathy At what age were you diagnosed: I was diagnosed with at the age of 8 years and then received confirmation that is was
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,
LGMD “Spotlight Interview on Research” LGMD RESEARCHER: Charles P. Emerson, Jr., Ph.D. Affiliation: Professor of Neurology; Director, UMMS Wellstone Muscular Dystrophy Program What education and training did you have to arrive at your current position? My undergraduate degree major
LGMD “SPOTLIGHT INTERVIEW” Name: Majed Age: 20 Country: Syria / Germany LGMD Sub-type: LGMD2C AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed at age 8. WHAT WERE YOUR FIRST SYMPTOMS: The symptoms began to appear when I
“LGMD SPOTLIGHT ON RESEARCH” LGMD Researcher: Jeffrey S. Chamberlain, Ph.D. Affiliation: University of Washington School of Medicine Role or Position: Professor, McCaw Chair in Muscular Dystrophy, Director, Wellstone Muscular Dystrophy Research Center-Seattle What education and training did you have to
NAME OF ORGANIZATION: The Speak Foundation WEBSITE: www.thespeakfoundation.com FACEBOOK: www.facebook.com/THESPEAKFOUNDATION WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUSES ON: All forms of neuromuscular diseases including LGMD. Is your organization a Non-Profit? If so, what type: U.S.-based 501 (c)(3) tax-exempt
LGMD “Spotlight Interview” Name: Anne Age: 56 yrs. old Country: United States LGMD Sub-Type: LGMD2A – also known as Calpainopathy At what age were you diagnosed: For having Muscular Dystrophy, I was diagnosed around 4 years of age. The specific
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
LGMD “Spotlight on Research” LGMD RESEARCHER: Kathryn Wagner, MD, PhD Affiliation: Kennedy Krieger Institute Role or Position: Professor and Director of the Center for Genetic Muscle Disorders What education and training did you have to arrive at your
LGMD “SPOTLIGHT INTERVIEW’ NAME: Anamaria AGE: 25 years old COUNTRY: Romania LGMD Sub-type: LGMD2A / Calpainopathy At what age were you diagnosed: I was diagnosed this year by the genetic testing of ”whole exome sequencing”. What were your
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
LGMD “Spotlight Interview on Research” LGMD RESEARCHER: Rita Perlingeiro Affiliation: University of Minnesota Role or Position: Professor of Medicine What education and training did you have to arrive at your current position? PhD in Physiology at the University of Campinas
NAME OF ORGANIZATION: Coalition to Cure Calpain 3 WEBSITE: CureCalpain3.org FACEBOOK: Coalition to Cure Calpain 3: Overcoming LGMD2A/Calpainopathy Twitter: @CureCalpain3 WHAT LGMD SUB-TYPE DOES YOUR ORGANIZATION FOCUS ON: LGMD2A, Calpainopathy IF
LGMD “SPOTLIGHT INTERVIEW” Name: Ralph AGE: 58 Yrs. Old Country: United States LGMD Sub-Type: LGMD2L / Anoctaminopathy At what age were you diagnosed: I started having symptoms at age 47, back in 2006 and was diagnosed by 2011 when
LGMD “Spotlight Interview on Research” LGMD Researcher: Louise Rodino-Klapac, Ph.D Affiliation: Nationwide Children’s Hospital and Myonexus Therapeutics, Inc. Role or Position: Associate Professor (NCH) and Chief Scientific Officer (Myonexus) What education and training did you have to arrive
LGMD “Spotlight Interview” – A Mother’s Perspective Mother’s Name: Aleksandra Country: The Netherlands Son’s LGMD Sub-Type: LGMD2D
NAME: Younis AGE: 14 yrs. old COUNTRY: Syria LGMD SUB-TYPE: LGMD 2C
LGMD Spotlight Interview Name: Jill Age: 33 yrs. old Country: United States LGMD Sub-Type: LGMD2i
LGMD “Spotlight Interview” Name: Deceena Age: 31 yrs. old Country: USA LGMD Sub-Type: LGMD2A – also known as Calpainopathy
LGMD “SPOTLIGHT INTERVIEW” Name: Fred Age: 36 yrs. old Country: United States LGMD Sub-Type: LGMD2A / Calpainopathy
LGMD “SPOTLIGHT INTERVIEW” Name: Vicki Age: 44 yrs. old Country: Canada LGMD Sub-Type: LGMD2A / Calpainopathy
LGMD “SPOTLIGHT INTERVIEW” Name: Kourtney Age: 23 yrs. old Country: USA LGMD Sub-Type: LGMD2B / Miyoshi Myopathy
LGMD “Spotlight Interview” Name: Becky Age: 35 yrs. old Country: USA LGMD Sub-Type: LGMD2B
LGMD “SPOTLIGHT INTERVIEW” Name: Lori Age: 47 yrs. old Country: United States LGMD Sub-Type: LGMD2i
LGMD “SPOTLIGHT INTERVIEW” NAME: Hillary AGE: 32 yrs. old COUNTRY: USA LGMD Sub-Type: LGMD2A / Calpainopathy
LGMD “SPOTLIGHT INTERVIEW” Name: Monkol AGE: 38 Country: United States LGMD Sub-Type: LGMD2G (also known as Telethoninopathy)
LGMD “Spotlight Interview” Name: Karen Age: 54 Yrs. old Country: USA LGMD Sub-Type: LGMD 2I
LGMD “SPOTLIGHT INTERVIEW” Name: Felix Age: 35 yrs. old Country: Brazil LGMD Sub-Type: LGMD2A / Calpainopathy
LGMD “ Spotlight Interview” Name: Asher Age: 10 yrs. old Country: New Zealand LGMD Sub-Type: Unknown
LGMD “SPOTLIGHT INTERVIEW” Name: Ben Age: 23 yrs. old Country: Hong Kong LGMD Sub-Type: LGMD2A / Calpainopathy
Name: Nicole AGE: 37 COUNTRY: United States LGMD Sub-Type: LGMD 2J (Titinopathy)
Name: Ralph Age: 24 yrs. old Country: South Africa LGMD Sub-Type: LGMD2B
LGMD SPOTLIGHT INTERVIEW Name: Amanda Age: 34 Country: Canada LGMD Sub-Type: LGMD2C
LGMD “Spotlight Interview” NAME: Jill AGE: 42 COUNTRY: USA LGMD Sub-Type: autosomal dominant Emery-Dreifuss muscular dystrophy (LMNA mutation/LGMD1B) AT WHAT AGE WERE YOU DIAGNOSED: I was diagnosed when I was 4 years old. WHAT WERE YOUR FIRST SYMPTOMS: I was
LGMD SPOTLIGHT INTERVIEW NAME: Karin AGE: 53 COUNTRY: United States LGMD Sub Type: Unknown AT WHAT AGE WERE YOU DIAGNOSED? I had been having problems years before my diagnosis. It wasn’t until I hit 40 that my life began to
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,
LGMD Spotlight Interview Name: Cecilia AGE: 36 years Country: Argentina LGMD Sub-Type: LGMD2A/Calpainopathy At what age were you diagnosed? I was diagnosed when I was 12 years old. What were your first symptoms: I began walking on my toes.