For Rare Disease Day, I thought I'd share some information about my disease. I was originally diagnosed at age 9 with Jr Rheumatoid Arthritis and Re-diagnosed at 14 with MCTD. I was one of 12 kids in Canada with my disease and one of 50 in North America. MCTD is still a rare disease even in adults, having under 200,000 people with it. It is an "overlap" chronic autoimmune systemic rheumatic disease. In my case I have: Lupus, Sjogrens syndrome, Raynauds Syndrome, Vasculitis, Polymyositis, Lupus and Rheumatoid Arthritis. I have added a little bit of info below both on MCTD and each of my diseases (simply the definitions, symptoms & complications) as well as links to learn more about each as well. This is NOT meant to be a diagnostic tool by any means - simply sharing information about the disease I fight every day and have for over 25 yrs and will for the rest of my life. As it is chronic there is no known cause or cure. The most common treatment at the moment is Biologics (immunosuppressants - basically chemotherapy). I know there is a ton of info on here - so I thank you all so much for taking the time and making the effort to learn more about my disease and helping me to fight for education, awareness and A CURE!
Mixed Connective Tissue Disease:
Mixed connective tissue disease (MCTD) is an uncommon autoimmune disorder that causes overlapping features of primarily three connective tissue diseases — lupus, scleroderma and polymyositis. Mixed connective tissue disease also may have features of rheumatoid arthritis. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease.
Signs and symptoms include:
- Raynaud's disease — blood vessel spasms that interrupt blood flow to the fingers, toes, ears and nose
- General feeling of being unwell (malaise)
- Muscle pains (myalgias)
- Joint pains (athralgias)
- Mild fever
- Joint swelling
- Swollen hands and puffy fingers
Raynaud's disease may begin years before other symptoms. As the disease progresses, it can affect any of the major organ systems, including skin, joints, muscles, heart, lungs, gastrointestinal tract, kidneys, central nervous system and blood cells.
Mixed connective tissue disease and its treatment can lead to serious complications, including:
- Pulmonary hypertension. High blood pressure affecting the arteries in your lungs (pulmonary hypertension) is the most common cause of death in people with mixed connective tissue disease. You might experience difficulty breathing or chest pain if you have pulmonary hypertension. People with mixed connective tissue disease usually need to take medications to control pulmonary hypertension.
- Heart disease. Mixed connective tissue disease puts you at risk of developing heart conditions, including enlargement of parts of the heart and inflammation around the heart (pericarditis). Your doctor may routinely monitor your heart with an electrocardiogram.
- Side effects of long-term corticosteroid use. Corticosteroids are commonly used to manage the signs and symptoms of mixed connective tissue disease. These medications are effective, but they carry risks. If you take corticosteroids, your doctor will likely monitor you for adverse effects, such as bone loss due to osteoporosis or avascular necrosis, muscle weakness, and infection.
- Pregnancy complications. There are conflicting studies, some of which suggest that women with mixed connective tissue disease may experience flares during pregnancy. Babies born to women with mixed connective tissue disease are at risk of being born with a low birth weight. If you're planning to become pregnant, talk with your doctor about this risk.
**You can learn more here: http://www.mayoclinic.com/health/mixed-connective-tissue-disease/DS00675 **
Definition: Lupus is a chronic inflammatory disease that occurs when your body's immune system attacks your own tissues and organs. Inflammation caused by lupus can affect many different body systems — including your joints, skin, kidneys, blood cells, brain, heart and lungs.
Symptoms:he signs and symptoms of lupus that you experience will depend on which body systems are affected by the disease. The most common signs and symptoms include:
- Fatigue and fever
- Joint pain, stiffness and swelling
- Butterfly-shaped rash on the face that covers the cheeks and bridge of the nose
- Skin lesions that appear or worsen with sun exposure
- Fingers and toes that turn white or blue when exposed to cold or during stressful periods (Raynaud's phenomenon)
- Shortness of breath
- Chest pain
- Dry eyes
- Headaches, confusion, memory loss
Complications: Inflammation caused by lupus can affect many areas of your body, including your:
- Kidneys. Lupus can cause serious kidney damage, and kidney failure is one of the leading causes of death among people with lupus. Signs and symptoms of kidney problems may include generalized itching, chest pain, nausea, vomiting and leg swelling (edema).
- Brain. If your brain is affected by lupus, you may experience headaches, dizziness, behavior changes, hallucinations, and even strokes or seizures. Many people with lupus experience memory problems and may have difficulty expressing their thoughts.
- Blood and blood vessels. Lupus may lead to blood problems, including anemia and increased risk of bleeding or blood clotting. It can also cause inflammation of the blood vessels (vasculitis).
- Lungs. Having lupus increases your chances of developing an inflammation of the chest cavity lining (pleurisy), which can make breathing painful.
- Heart. Lupus can cause inflammation of your heart muscle, your arteries or heart membrane (pericarditis). The risk of cardiovascular disease and heart attacks increases greatly as well.
Other types of complicationsHaving lupus also increase your risk of:
- Infection. People with lupus are more vulnerable to infection because both the disease and its treatments weaken the immune system. Infections that most commonly affect people with lupus include urinary tract infections, respiratory infections, yeast infections, salmonella, herpes and shingles.
- Cancer. Having lupus appears to increase your risk of cancer.
- Bone tissue death (avascular necrosis). This occurs when the blood supply to a bone diminishes, often leading to tiny breaks in the bone and eventually to the bone's collapse. The hip joint is most commonly affected.
- Pregnancy complications. Women with lupus have an increased risk of miscarriage. Lupus increases the risk of high blood pressure during pregnancy (preeclampsia) and preterm birth. To reduce the risk of these complications, doctors recommend delaying pregnancy until your disease has been under control for at least 6 months.
**You can learn more here: http://www.mayoclinic.com/health/lupus/DS00115 **
Definition: Vasculitis is an inflammation of your blood vessels. Vasculitis causes changes in the walls of your blood vessels, including thickening, weakening, narrowing and scarring.
There are many types of vasculitis. Some forms last only a short time (acute) while others are long lasting (chronic). Vasculitis, which is also known as angiitis and arteritis, can be so severe that the tissues and organs supplied by the affected vessels don't get enough blood. This shortage of blood can result in organ and tissue damage, even death.
Symptoms: general signs and symptoms that many people with vasculitis experience include:
- Weight loss
- Muscle and joint pain
- Loss of appetite
- Nerve problems, such as numbness or weakness
Complications: Complications of vasculitis depend on the type of vasculitis you have. In general, complications that can occur include:
- Organ damage. Some types of vasculitis can be severe, causing damage to major organs.
- Recurring episodes of vasculitis. Even when treatment for vasculitis is initially successful, the condition may recur and require additional treatment. In other cases, vasculitis may never completely go away and requires ongoing treatment.
**You can learn more here: http://www.mayoclinic.com/health/vasculitis/DS00513 **
Definition: Sjogren's (SHOW-grins) syndrome is a disorder of your immune system identified by its two most common symptoms — dry eyes and a dry mouth.
Sjogren's syndrome often accompanies other immune-system disorders, such as rheumatoid arthritis and lupus. In Sjogren's syndrome, the mucous membranes and moisture-secreting glands of your eyes and mouth are usually affected first — resulting in decreased production of tears and saliva.
The two main symptoms of Sjogren's syndrome are:
- Dry eyes. Your eyes may burn, itch or feel gritty — as if there's sand in them.
- Dry mouth. Your mouth may feel like it's full of cotton, making it difficult to swallow or speak.
Some people with Sjogren's syndrome also experience one or more of the following:
- Joint pain, swelling and stiffness
- Swollen salivary glands — particularly the set located behind your jaw and in front of your ears
- Skin rashes or dry skin
- Vaginal dryness
- Persistent dry cough
- Prolonged fatigue
The most common complications of Sjogren's syndrome involve your eyes and mouth.
- Dental cavities. Because saliva helps protect the teeth from the bacteria that cause cavities, you're more prone to developing cavities if your mouth is dry.
- Yeast infections. People with Sjogren's syndrome are much more likely to develop oral thrush, a yeast infection in the mouth.
- Vision problems. Dry eyes can lead to light sensitivity, blurred vision and corneal ulcers.
Less common complications may affect your:
- Lungs, kidneys or liver. Inflammation may cause pneumonia, bronchitis or other problems in your lungs; may lead to problems with kidney function; and may cause hepatitis or cirrhosis in your liver.
- Unborn baby. If you're a woman with Sjogren's syndrome and you plan to become pregnant, talk with your doctor about being tested for certain autoantibodies that may be present in your blood. In rare cases, these antibodies have been associated with heart problems in newborns.
- Lymph nodes. A small percentage of people with Sjogren's syndrome develop cancer of the lymph nodes (lymphoma).
- Nerves. You may develop numbness, tingling and burning in your hands and feet (peripheral neuropathy).
- **You can learn more here: http://www.mayoclinic.com/health/sjogrens-syndrome/DS00147 **
Definition: Raynaud's (ray-NOHZ) disease is a condition that causes some areas of your body — such as your fingers, toes, the tip of your nose and your ears — to feel numb and cool in response to cold temperatures or stress. In Raynaud's disease, smaller arteries that supply blood to your skin narrow, limiting blood circulation to affected areas.
Raynaud's disease is more than simply having cold hands and cold feet, and it's not the same as frostbite. Signs and symptoms of Raynaud's depend on the frequency, duration and severity of the blood vessel spasms that underlie the disorder. Raynaud's disease symptoms include:
- Cold fingers and toes
- Sequence of color changes in your skin in response to cold or stress
- Numb, prickly feeling or stinging pain upon warming or relief of stress
During an attack of Raynaud's, affected areas of your skin usually turn white at first. Then, the affected areas often turn blue, feel cold and numb, and your sense of touch is dulled. As circulation improves, the affected areas may turn red, throb, tingle or swell. The order of the changes of color isn't the same for all people, and not everyone experiences all three colors.
Occasionally, an attack affects just one or two fingers or toes. Attacks don't necessarily always affect the same digits. Although Raynaud's most commonly affects your fingers and toes, the condition can also affect other areas of your body, such as your nose, lips, ears and even nipples. An attack may last less than a minute to several hours.
Complications: If Raynaud's is severe — which is rare — blood circulation to your fingers or toes could permanently diminish, causing deformities of your fingers or toes.
If an artery to an affected area becomes blocked completely, sores (skin ulcers) or dead tissue (gangrene) may develop. Ulcers and gangrene can be difficult to treat. In extreme untreated cases, your doctor may need to remove the affected part of your body (amputation).
**You can learn more here: http://www.mayoclinic.com/health/raynauds-disease/DS00433 **
Definition: Polymyositis (pol-e-mi-o-SI-tis) is a persistent inflammatory muscle disease that causes weakness of the skeletal muscles, which control movement. Medically, polymyositis is classified as a chronic inflammatory myopathy — one of only three such diseases.
Symptoms:Signs and symptoms of polymyositis appear gradually, so it may be difficult to pinpoint when they first started. They may also fluctuate from week to week or month to month.
Polymyositis signs and symptoms include:
- Progressive muscle weakness
- Difficulty swallowing (dysphagia)
- Difficulty speaking
- Mild joint or muscle tenderness
- Shortness of breath
Polymyositis typically affects the muscles closest to the trunk, particularly those in your hips, thighs, shoulders, upper arms and neck. The weakness is symmetrical, meaning it involves muscles on both the left and right sides of your body.
The disease worsens over time. As muscle weakness progresses, you might find it difficult to climb stairs, rise from a seated position, lift objects or reach overhead.
Complications: complications of polymyositis include:
- Difficulty swallowing. If the muscles in your esophagus are affected, you may have problems swallowing (dysphagia), which in turn may cause weight loss and malnutrition.
- Aspiration pneumonia. Difficulty swallowing may also cause you to breathe food or liquids, including saliva, into your lungs (aspiration), which can lead to pneumonia.
- Breathing problems. If your chest muscles are affected by the disease, you may experience breathing problems, such as shortness of breath or, in severe cases, respiratory failure.
- Calcium deposits. Late in the disease, particularly if you've had the disease for a long time, deposits of calcium can occur in your muscles, skin and connective tissues (calcinosis).
**You can learn more here: http://www.mayoclinic.com/health/polymyositis/DS00334 **
Definition: Rheumatoid arthritis is a chronic inflammatory disorder that typically affects the small joints in your hands and feet. Unlike the wear-and-tear damage of osteoarthritis, rheumatoid arthritis affects the lining of your joints, causing a painful swelling that can eventually result in bone erosion and joint deformity.
An autoimmune disorder, rheumatoid arthritis occurs when your immune system mistakenly attacks your own body's tissues. In addition to causing joint problems, rheumatoid arthritis can also affect your whole body with fevers and fatigue.
Symptoms: Signs and symptoms of rheumatoid arthritis may include:
- Tender, warm, swollen joints
- Morning stiffness that may last for hours
- Firm bumps of tissue under the skin on your arms (rheumatoid nodules)
- Fatigue, fever and weight loss
Early rheumatoid arthritis tends to affect your smaller joints first — particularly the joints that attach your fingers to your hands and your toes to your feet. As the disease progresses, symptoms often spread to the knees, ankles, elbows, hips and shoulders. In most cases, symptoms occur in the same joints on both sides of your body.
Rheumatoid arthritis signs and symptoms may vary in severity and may even come and go. Periods of increased disease activity, called flares, alternate with periods of relative remission — when the swelling and pain fade or disappear. Over time, rheumatoid arthritis can cause joints to deform and shift out of place.
Complications: Rheumatoid arthritis increases your risk of developing:
- Osteoporosis. Rheumatoid arthritis itself, along with some medications used for rheumatoid arthritis, can increase your risk of osteoporosis — a condition that weakens your bones and makes them more prone to fracture.
- Carpal tunnel syndrome. If rheumatoid arthritis affects your wrists, the inflammation can compress the nerve that serves most of your hand and fingers.
- Heart problems. Rheumatoid arthritis can increase your risk of hardened and blocked arteries, as well as inflammation of the sac that encloses your heart.
- Lung disease. People with rheumatoid arthritis have an increased risk of inflammation and scarring of the lung tissues, which can lead to progressive shortness of breath.
**you can learn more here; http://www.mayoclinic.com/health/rheumatoid-arthritis/DS00020 **