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ABOUT ME!
❀ HELLO THERE!! Thank you for taking the time to check out my page! ❀
❀ For starters... this page is not only my blog where I share my feelings and experiences with Muscular Dystrophy.. but this page for everyone! It’s for.. individuals that are new to the topic of Muscular Dystrophy and want to learn more information. It’s for individuals suffering with Muscular Dystrophy.. so we can relate and connect with each other. It’s for children and their parents impacted by Muscular Dystrophy (the reason for my color scheme).. I want them to see Muscular Dystrophy from a 24-year-old perspective and understand their future is bright and full of life. Last, it’s for researchers and individuals in science-related fields that need a direct and reliable Muscular Dystrophy perspective. ❀ About me (more information in my ‘¿MUSCULAR DYSTROPHY?’ tab)... My name is Sarah and I'm 24. I’m a Taurus, which means that I value hard, steady work! My moon is in Pisces which means I value compassion and trust my intuition. And last, my rising sign is in Leo, which means I try to be as self-aware as I can.. and I also love my hair (Fun fact: I’ve had the honor of donating my hair five times in my life.. I just grow it out to my hips and chop it into a bob c:) ❀ I'm in love with our new pooch my we rescued, Cecilia. She's a Chihuahua x Pug mix. 
❀ My favorite colors are pink and red. And, my favorite aesthetic is Frutiger (check out stamps!). ❀ My favorite show is Dateline and I love listening to StarTalk Radio. I’m a huge space fanatic and Neil deGrasse Tyson fan! ❀ My favorite season is Spring time (I’m excited for the cold to be over so I can garden again.. I love eggplant flowers, they’re beautiful!). ❀ I love any outdoor activity with John! ❀ After taking a hiatus to focus on work and us, John is back in school! Whoo-hoo! I am very proud of him for returning, working extra hard, and focusing on himself! (Fun fact: John’s birthday is soon! Happy Birthday, love! MUSIC & BOOKS!
MOVIES & SHOWS!
¿MUSCULAR DYSTROPHY?
❀ Hi! Welcome to my personal tab about Muscular Dystrophy. ❀
❀ I wanted this little box to myself... to discuss how involved Muscular Dystrophy is in my life... as well all the ways my life is independent from Muscular Dystrophy. For readers impacted by Muscular Dystrophy, I want to show that while our disease is physically consuming, degeneration can also be a mindset... and just because we are physically limited that does not mean we cannot have fulfilling lives, big dreams and strong goals. Above all, I want to emphasize that we can accomplish anything we set our minds to. ❀ Ok back to business! Starting from the beginning with my diagnosis story.. I was diagnosed by my geneticist at 20 with Limb-Girdle Muscular Dystrophy Type 2D/R3... whew... what a long name! During my visit my doctor emphasized that we would be parting ways as he could not do anything more for me... meaning my disease is rare and there was not enough literature on it for him to advise me in good faith. He then suggested I join a support group because individuals with rare neuromuscular diseases are experts in their own bodies and development. As well, he told me to live my life to the fullest. And, I thank him because this was the best advice for my life and stability. ❀ After I left the appointment I never looked back. I kept my chin up and focused on my quality of life. At 22, I met my college sweetheart and life partner, 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. ❀ I also graduated from college with my second degree in psychology.. which I am very proud of myself for.. because college can be physically demanding for individuals with Muscular Dystrophy, which deters them. Since then, I have been involved in my Limb-Girdle Muscular Dystrophy community and greater Muscular Dystrophy community. I am active in social settings. As well, I assist individuals in obtaining disability benefits by answering questions and helping with applications. And, I reassure mothers with children affected with Muscular Dystrophy (I fill in the gap where medicine falls short) by sharing my story, which gives them confidence their child will be okay and have an enriching life. ❀ Now, I'm 24. I just applied to law school and I'm waiting on a call back. I'm very hopeful (fingers crossed!) My dream is to become a disability lawyer, and help my community. As well, I want to prevent suffering, but also alleviate burdens if an individual is 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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