It does not matter how rare a disease might be before it touches your life but when it does, it ceases to be rare to you. I had never heard of the diseases below; however, when one affected my family I realized that no one is immune to disease – – it crosses all boundaries of age, race, gender, social status and economic level. When I asked people for suggestions of rare diseases that have affected them or their family, I was surprised that almost every person could give me at least one rare disease that had touched their family or close friends. These diseases seemed to stand out to me.
1. Guillain-Barre Syndrome – I had never heard of this rare disease until my cousin was diagnosed with it a year ago. The disorder causes the body’s immune system to attack the nervous system causes symptoms ranging from mild tingling and numbness to complete paralysis. In severe cases, patients must be put on a respirator to breathe. A cause for Guillain-Barre Syndrome has not been discovered; however, in many cases it follows an infection of the digestive tract or respiratory system. MSNBC reported in November that a Virginia teen was diagnosed with Guillain-Barre after he had the H1N1 flu shot. My cousin had just gotten over a stomach virus when he began feeling “off” and within a few hours he was completely paralyzed and on a respirator. Complications from Guillain-Barre Syndrome include respiratory problems, paralysis and the inability to eat (requiring a feeding tube). Some individuals recover after several months of intensive care and may or may not experience relapses; however, some have permanent complications. It has been a year and my cousin is still completely paralyzed. For more information about this rare disease, visit the National Institute of Neurological Disorders and Stroke’s website.
2. Raynaud’s Disease – I worked with a young woman that was diagnosed with Raynaud’s Disease and I witnessed first hand how devastating this disease can be when it is severe. Her fingers would begin to turn a light shade of blue and the color would deepen as it moved up her hand – – her hand would actually be blue. Then it would be cold and as her hand would warm up, she would experience pain. According to the Raynaud’s Association, Raynaud’s is a disorder of the small blood vessels which reduces blood flow to the extremities. Mostly affecting the fingers and hands, skin turns white or blue when exposed to cold and then turns bright red when they begin to warm. There may also be tingling, swelling, numbness and even pain. Episodes may last a few minutes or they may last a few hours and come without much warning. In addition to exposure to cold, stress can trigger a Raynaud’s episode making this very difficult for someone in a high-stress profession. For more information about this rare disease, visit the Raynaud’s Association website.
3. Prader-Willi Syndrome – This rare disease was recently featured on an episode of ABC’s Extreme Makeover: Home Edition (aired on May 9, 2010). The Starkweather family experience first-hand the heartbreak of watching your child suffer with Prader-Willi Syndrome. PWS, as it is often referred to, is a genetic disorder involving chromosome 15 and occur when a fetus is developing. Approximately 1 in 12,000 to 15,000 infants will be born with Prader-Willi Syndrome. PWS results in low muscle tone, distinctive facial features, incomplete sexual development, behavior problems, short height, learning disabilities and mild to moderate mental retardation. One of the worst, and potentially fatal, results of PWS is the constant feeling of hunger the person suffers. The result is excessive eating and life-threatening obesity. Parents are forced to provide constant supervision and even install locks to prevent the child from obtaining food. For more information, on-going research and support, visit the Prader-Willi Syndrome Association’s website.
4. Cockayne Syndrome – This rare disease is a genetic disorder that has several characteristics including premature aging (progeria), sensitivity to sunlight, poor growth and mental and developmental delays. Many children born with Cockayne Syndrome (CS) have a shortened lifespan and do not live beyond 10 to 20 years depending on the severity and type of CS. Cockayne Syndrome is a difficult disease because in addition to the main symptoms, children born with CS may experience a number of other problems including poor circulation, hearing loss, hypertension, liver abnormalities and retinopathy. For more information and support, contact the Cockayne Syndrome Network’s Share & Care, a network of families who have been touched by CS.
5. Langerhans Cell Histiocytosis (LCH) – Langerhans Cell Histiocytosis affects approximately 9 out of every 1,000,000 children born in the United States; therefore, the illness is very rare and does not get enough attention to generate a large amount of data and research. LCH is a rare blood disease caused by too many white blood cells in the body. The white blood cells, which typically fight off germs and disease, group together to attack vital organs of the body such as the lungs, liver, spleen, nervous system, ears, etc. The cause is unknown as is a cure; however, cancer treatments have been effective in treating LCH. Most children recover; however, the disease may become life-threatening depending on the severity and the number of organs that are attacked by the white blood cells. For more information about LCH, and other histiocytosis diseases, visit the Histiocytosis Association of America’s website.
Aleccia, JoNel. “Va. Teen suffers rare illness after swine flu shot” (MSNBC.com, 11/12/09)
National Institute of Neurological Disorders and Stroke
Prader-Willi Syndrome Association (pwsausa.org)
Cockayne Syndrome Network (cockaynesyndrome.net)
Histiocytosis Association of America