Introduction
According to the World Health Organization (WHO), chronic diseases are responsible for 71% of all deaths globally. Chronic diseases are non-communicable and long-term health conditions that can’t be cured, but their effects can be managed. While some chronic diseases are common, such as diabetes, heart disease, and cancer, some are rare and less known.
In this article, we’ll discuss the top 10 rare chronic diseases you should know about.
1. Usher Syndrome
Usher syndrome is a genetic disorder that affects both hearing and vision. The syndrome can cause hearing loss from birth, and vision loss begins later in life, often during adolescence. The severity and progression of the disease vary from person to person, but eventually, most people with Usher syndrome experience total hearing and vision loss. There is currently no cure, but hearing aids, cochlear implants, and even gene therapy may help manage the symptoms.
2. Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that affect the functioning of the skin, joints, and blood vessels. There are 13 types of EDS, but the most common type is hypermobility type. Patients with hypermobility type experience joint hypermobility, skin that bruises easily, and chronic pain. EDS is a lifelong condition, and there are no cures, but physical therapy and medication can help manage the symptoms.
3. Neurofibromatosis
Neurofibromatosis (NF) is a rare genetic disorder that causes tumors to grow on nerves throughout the body. There are three types of NF, but the most common is NF1, which affects 1 in 3,000 people. Symptoms of NF1 can include learning disabilities, hearing loss, and vision loss. There is currently no cure for NF, but surgery and medication can help manage the symptoms.
4. Huntington’s Disease
Huntington’s Disease is a genetic disorder that causes degeneration of nerve cells in the brain. Symptoms usually appear in a person’s 30s or 40s and can include involuntary movements, personality changes, and cognitive decline. There is no cure for Huntington’s disease, and treatment focuses on managing the symptoms with medication and therapy.
5. Epidermolysis Bullosa
Epidermolysis Bullosa (EB) is a genetic disorder that causes the skin to become extremely fragile and blister easily. There are four types of EB, and symptoms range from mild to severe. Severe forms of the disease can be life-threatening and require constant wound care. There is no cure for EB, but treatment focuses on wound care and infection prevention.
6. Cystic Fibrosis
Cystic Fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other organs. Symptoms include frequent lung infections, difficulty breathing, and poor growth. There is no cure for CF, but treatment focuses on managing the symptoms with medication, physical therapy, and lifestyle changes.
7. Pompe Disease
Pompe Disease is a genetic disorder that causes a buildup of glycogen in the body, affecting the muscles and organs. Symptoms can include muscle weakness, difficulty breathing, and heart problems. There is currently no cure for Pompe Disease, but treatment focuses on managing the symptoms with medication, physical therapy, and dietary changes.
8. Myasthenia Gravis
Myasthenia Gravis is a rare autoimmune disorder that causes muscle weakness and fatigue. Symptoms can include drooping eyelids, difficulty speaking, and difficulty swallowing. There is no cure for Myasthenia Gravis, but treatment focuses on managing the symptoms with medication and therapy.
9. Polycystic Kidney Disease
Polycystic Kidney Disease (PKD) is a genetic disorder that causes cysts to form in the kidneys, leading to kidney failure. Symptoms can include high blood pressure, back pain, and UTIs. There is currently no cure for PKD, but treatment focuses on managing the symptoms with medication and lifestyle changes.
10. Ehlers-Danlos Syndrome
Primary Sclerosing Cholangitis (PSC) is a rare autoimmune disorder that causes inflammation and scarring of the bile ducts in the liver. Symptoms can include itching, fatigue, and jaundice. There is no cure for PSC, but treatment focuses on managing the symptoms with medication and lifestyle changes.
Conclusion
While chronic diseases can be challenging to manage, education and understanding can make a significant difference in living with these conditions. By knowing about the top 10 rare chronic diseases, we can better support those who are living with these conditions and advocate for research to find treatments and cures.
