Parent Project Muscular Dystrophy’s Post

Duchenne muscular dystrophy is a genetic disorder causing progressive muscle degeneration and weakness. Symptoms typically begin in early childhood and include difficulty walking, running & jumping, frequent falls, and trouble climbing stairs. As the disease progresses, it can ultimately affect breathing and heart function. Saturday’s first-ever World Duchenne Awareness Day stresses the importance of advocating for the rights, inclusion and well-being of people living with this condition. https://lnkd.in/ePnjCmNg

Duchenne muscular dystrophy (DMD) is a genetic disorder that leads to progressive muscle degeneration and weakness. This condition primarily affects boys and is caused by a mutation in the gene responsible for producing a protein called dystrophin. As a result, individuals with DMD experience a range of symptoms that can significantly impact their daily lives. Symptoms of Duchenne muscular dystrophy typically manifest in early childhood, with affected children showing signs such as difficulty walking, running, and jumping. They may experience frequent falls and have trouble climbing stairs as the disease progresses. Over time, DMD can also affect vital functions such as breathing and heart health, leading to serious complications. In an effort to raise awareness and advocate for the rights, inclusion, and well-being of individuals living with Duchenne muscular dystrophy, the first-ever World Duchenne Awareness Day was held on Saturday. This global initiative aims to shed light on the challenges faced by those with DMD and emphasize the importance of supporting and empowering individuals affected by this condition. The significance of World Duchenne Awareness Day extends beyond simply raising awareness; it serves as a call to action for governments, healthcare providers, researchers, and the general public to prioritize the needs of individuals with Duchenne muscular dystrophy. By fostering a greater understanding of the condition and promoting initiatives that enhance the quality of life for those living with DMD, we can work towards creating a more inclusive and supportive society for individuals affected by genetic disorders. As we commemorate World Duchenne Awareness Day, it is essential to recognize the resilience and strength of individuals facing the challenges of Duchenne muscular dystrophy. By coming together to advocate for their rights and well-being, we can make a meaningful difference in the lives of those impacted by this condition and pave the way for a more inclusive and compassionate world. Through continued research, education, and advocacy efforts, we can strive to improve outcomes for individuals with Duchenne muscular dystrophy and work towards a future where all individuals, regardless of their health conditions, are valued, supported, and empowered to live their lives to the fullest.

One year ago this month, I started working in the Duchenne Muscular Dystrophy (DMD) disease area as a market access consultant, and it has been a truly humbling experience. Saturday marked the very first World Duchenne Awareness Day 7th Sept, and it prompted me to reflect on the importance of disease awareness, specifically from our perspective as professionals here on LinkedIn. I imagined a world where disease awareness wasn’t considered important: Junior doctors passing up opportunities to specialise in specific conditions, researchers struggling even more to secure funding, investors prioritising conditions they are more familiar with, top talent not drawn to innovative treatments in unfamiliar diseases, and payers struggling to fully appreciate the unmet need for patients and society. One cannot underestimate the ripple effect of disease curiosity; the impact on patients, caregivers, and society. Learn about Duchenne Muscular Dystrophy here. You never know how your curiosity might start a ripple. https://lnkd.in/eA52AmdB #WorldDuchenneAwarenessDay #DiseaseCuriosity

Battling Batten Disease: A Fight Against the Rare and Relentless Batten disease is a rare and devastating neurodegenerative disorder that primarily affects children, leading to severe neurological impairment and, ultimately, a shortened life expectancy. As one of the most common forms of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), Batten disease is characterized by the accumulation of fatty substances called lipopigments in the body's cells, leading to progressive damage to the nervous system. Read more at https://lnkd.in/es-_Nu3k #rare360 #rareadvocacy #livingrare #rarediseases #battendisease

Multiple Sclerosis Multiple Sclerosis (MS) is an auto immune disorder in which the myelin sheath, the insulative cover of the neuron axon, degenerates. This causes the brain to have trouble transmitting signals, which can result in a range of symptoms. For instance, a person could lose their sight or functioning in extremities. I was able to see an MRI of a woman who appeared to have MS. I had never seen an image of this disease in real time, I found it fascinating. Below is an MRI scan of a brain with lesions, the white spots. Lesions are a key indicator of MS and commonly used to diagnose the disease, which can be very difficult to otherwise diagnose.

Pituitary disorders caused by pituitary tumors are an underdiagnosed set of conditions that can wreak havoc on the hormonal system of the body, resulting in a multitude of seemingly unrelated symptoms such as weight gain and vision loss. Pacific Pituitary Disorders Center answers 9 Everyday Questions About Pituitary Tumors and Pituitary Adenomas in their blog. Click on the link in our bio to find out more: https://lnkd.in/gyezRMPA #SaintJohnsHealthCenterFoundation #ProvSaintJohns #pituitarydiscorder #pituitary #topdoctors

DOWN SYNDROME: Down syndrome is a genetic condition where a person is born with an extra copy of chromosome 21. This means that they have a total of 47 chromosomes instead of 46. This can affect how their brain and body develop. People diagnosed with Down syndrome have happy and healthy lives with supportive care. SYMPTOMS: *A flattened face, especially the bridge of the nose. *Almond-shaped eyes that slant up. *A short neck. *Small ears. *A tongue that tends to stick out of the mouth. *Tiny white spots on the iris (colored part) of the eye. *Small hands and feet. #snsinstitutions #snsdesignthinkers #snsdesignthinking

Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system). In MS , the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. It's not clear why this happens but it may be a combination of genetic and environmental factors. It causes wide range of potential symptoms, including problems with vision, arm or leg movement, sensation or balance. It's a lifelong condition that can sometimes cause serious disability, although it can occasionally be mild. #multiplesclerosis #multiplesclerosissucks #multiplesclerosiswarrior #multiplesclerosissupport #multiplesclerosissociety #multiplesclerosisfighter #multiplesclerosisproblems #multiplesclerosisawareness #May2024 #may2024 #deesthafoundation

TECHAGAPPE (39th Edition) Medical Article… HEALTH TIPS FOR BLOOD RELATED DISORDERS… In our journey towards maintaining optimal health, understanding, and managing hematological disorders plays a crucial role. Hematology, the branch of medicine concerned with the study of blood, blood-forming organs, and blood diseases, encompasses a range of conditions from anemia, polycythaemia Vera, thrombocytopenia, sickle cell disease to more complex disorders like leukaemia, haemophilia, myeloma etc. Here are a few vital health tips to prevent and manage these disorders. Continue reading here… https://lnkd.in/g9Tzwt3M #agappe #agappeblogs #techagappe