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ABOUT ME!
❀ HELLO THERE!! Thank you for taking the time to check out my page! ❀
❀ For starters... I wanted to make this page as a guide for individuals that are new to Muscular Dystropy and are intrested in learning more about it... as well I wanted it to be friendly, new, and relatable for individuals that do have Muscular Dystrophy... ❀ About me... My name is Sarah and I'm 24. I'm currently in love with our new pooch we rescued, Cecilia. She's a Chihuahua x Pug mix (we think). ❀ I love pink and red. I'm also into the Frutiger aesthetic right now (aka my stamps). ❀ Let me introduce you to my other half! JOHN! John is literally an angel.. He's funny, caring, resourceful, calm, and well-read... he lights up every room and makes it seem bigger.. and warmer! If something is without him... I don't want it.. or trust it, quite frankly. In short, I'm very proud of us. MUSIC & BOOKS!
MOVIES & SHOWS!
¿MUSCULAR DYSTROPHY?
❀ Hi! Welcome to my personal tab about Muscular Dystrophy. ❀
❀ I have Limb-Girdle Muscular Dystrophy Type 2D/R3... whew... what a long title! ❀ I wanted this little box to myself... because I don’t really get questions about my disability anymore.. Many individuals choose to ask John.. often times right in front of me... eeeyuck!!... I wanted to make this to explain who I am and what I like… on my own time! ❀ Ok back to business! I was born like this… yup! Believe it or not, I was born with Muscular Dystrophy...as a baby...yup...as an athlete...yup! I actually wasn’t diagnosed until I was 20! ❀ That was also the same time I learned that it was permanent and incurable.. and that I would “slowly” lose the function of my arms and legs over time.. ❀ For years... I actually appreciated individuals not asking me about my disease... I liked to hide all comfy and cozy in that grey area, pretending I was “normal” and... less complicated? Now, that fatigue and atrophy have taken over my body, I’m involved in my LGMD community and greater MD community more than ever... and the best part is... they get me completely! My dream is to go to law school, become a disability attorney, and prevent suffering!
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WHAT IS MUSCULAR DYSTROPHY?
❀ Hi! Thank you for wanting to learn more about Muscular Dystrophy. ❀
❀ Muscular Dystrophy is actually a category of rare genetic diseases that cause muscles to become weaker over time. There are many different kinds of MD... different severities.. different muscles they impact... and different ages of onset (when symptoms manifest). ❀ I have LGMD 2D/R3. Weird.. long name?? Let’s break it down! So, we have Limb-Girdle, the name, which describes the areas of impact. 2D is my specific subtype. R stands for autosomal recessive, and the 3 means.. 2D was the third recessive LGMD to be added to our new classification system. ❀ Good question! My Muscular Dystrophy targets both my pectoral (shoulder blades) and pelvic girdles (pelvis), which indirectly causes my limbs to become impacted as well. In other words, because the soil doesn’t have necessary nutrients, flowers do not grow. If the soil had the necessary nutrients flowers would grow. ❀ So.. because my disease is recessive that means I received two mutated copies from both of my parents. This mutated protein is called ‘alpha-sarcoglyan,’ which is necessary for building muscle, and also maintaining them. Symptoms usually present before age 10, for me I was seven, because our fundamental strength can only carry us for so long. My first symptoms were a wadding gait (like a penguin), difficulty climbing stairs, and significant sharp muscle pain in my legs. Now, I use a pink cane (her name is Rosa). I struggle with rising from seated positions, walking “long” distances (lol subjective?), and with my endurance. ✎ Gene Name: Sarcoglycan-alpha ✎ Alternative Names: Adhalin, 50-DAG, A2, and SL50 ✎ Gene Symbol: SGCA Human alpha sarcoglycan gene has been mapped to chromosome 17q21.3 ✎ Genomic Coordinates: 17:48,243,239 – 48,253,292 ✎ Genomic Sequence: AC015909.14 ✎ Homologous Genes: Hologene:9 ✎ Main form of alpha sarcoglycan is 387 amino acids long with a molecular weight of about 50 kD ✎ NCBI Reference Sequence: NP_000014 WHERE IS MUSCULAR DYSTROPHY?
❀ Hi! Thank you for checking out more Dystrophy. ❀
✎ Clevland Clinic Overview ✎ Medline Overview ✎ CDC Overview ✎ Duchenne Muscular Dystrophy ✎ Emery-Dreifuss Muscular Dystrophy ✎ Facioscapulohumeral Muscular Dystrophy ✎ Myotonic Dystrophy ✎ Oculopharyngeal Muscular Dystrophy ✎ Spinal-Bulbar Muscular Atrophy ✎ Spinal Muscular Atrophy ✎ Amyotrophic Lateral Sclerosis (ALS you can sit with us!) ✎ MDA Overview ✎ Medline Overview ✎ Muscular Dystrophy UK Overview ✎ Limb-Girdle Muscular Dystrophy Type 2A/R1 ✎ Limb-Girdle Muscular Dystrophy Type 2B/R2 ✎ Limb-Girdle Muscular Dystrophy Type 2D/R3 ✎ Limb-Girdle Muscular Dystrophy Type 2E/R4 ✎ Limb-Girdle Muscular Dystrophy Type 2C/R5 ✎ Limb-Girdle Muscular Dystrophy Type 2F/R6 ✎ Limb-Girdle Muscular Dystrophy Type 2I/R9 FOR MUSCULAR DYSTROPHY!
❀ Hi! Let's enjoy Muscular Dystrophy together! ❀
✎ Muscular Dystrophy Association ✎ Limb-Girdle Muscular Dystrophy Awareness Foundation ✎ 'Women Living with Muscular Dystrophy' Community ✎ 'Living with Limb-Girdle Muscular Dystrophy' Community ✎ Cerys' Channel ✎ 'Movement Monday' with Bec Seely ✎ General Community! GUESTBOOK!
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✎ Address code hiccups ✎ Change cursor ✎ Add John and Cecilia pngs POLL!
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