When it comes to rare diseases, true strength isn’t measured by physical force, but by one’s courage, resilience, and perseverance.
People with rare diseases, and those who support them, are often overlooked because their conditions are misunderstood or little is known about them. Even reaching a diagnosis for a rare disease can be a long and frustrating experience. The average time from a person’s first symptom to an accurate diagnosis is approximately five years, and for some people it can take up to 20 years.25 They’ll typically visit more than seven physicians, on average, before receiving an accurate diagnosis, so they must possess a mental toughness and a spirit that screams, “I refuse to be ignored!” 25
As a hero supporting the Uncommon Strength campaign, your mission is clear: share your heroic life and unique experiences with the world to help raise awareness of rare diseases so others can see the unseen. Together, we can inspire others affected by rare diseases like aHUS, gMG, HPP, LAL-D, and PNH to join forces and take on the challenge of raising awareness of rare diseases around the world.
It can be difficult to get to the right diagnosis for a rare disease, as aHUS, gMG, HPP, LAL-D, PNH, and other rare diseases often resemble different, more common conditions. It can take many doctors, many appointments, and sometimes many years to figure out what is wrong.
Scroll down to explore the archenemies or click on one of the buttons below to go directly to the rare disease of your choosing.
Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare, chronic disease with a high risk of recurrent episodes that progressively damages the kidneys and other organs, potentially leading to sudden kidney failure (requiring dialysis or transplant); stroke; heart attack; and premature death due to clotting and inflammation in small blood vessels (thrombotic microangiopathy, TMA).1-4
aHUS may appear suddenly and severely or present without severe initial symptoms—symptoms may vary both in type and frequency.26,27 aHUS can appear to be flu like, with lethargic behavior, pale color and loss of appetite. Other signs and symptoms include confusion, stomach pain, diarrhea, nausea, vomiting, shortness of breath, heart symptoms, seizures, inflamed colon, blood vessel damage, and kidney symptoms.1-4
Available tests can help diagnose aHUS early and distinguish it from other hemolytic diseases with similar symptoms such as HUS caused by Shiga toxin-producing Escherichia coli (STEC-HUS) and thrombotic thrombocytopenic purpura (TTP).1-4
In aHUS, TMA is caused by an uncontrolled activation of the complement system, a part of the immune systems.2-5 Complement-mediated TMA also causes reduction in platelet count (thrombocytopenia) and red blood cell destruction (hemolysis).1,2
LEARN MORE ABOUT aHUS
Myasthenia gravis (MG) is a debilitating, chronic and progressive autoimmune neuromuscular disease that can occur at any age but most commonly begins for women before the age of 40 and men after the age of 60.5,6,28,29 It typically begins with weakness in the muscles that control the movements of the eyes and eyelids, and often progresses to the more severe and generalized form, known as generalized myasthenia gravis (gMG), with weakness of the head, neck, trunk, limb and respiratory muscles.6
While most patients with gMG can be managed with therapies for MG, 10-15% of patients fail to respond adequately to or cannot tolerate multiple therapies for MG and continue to suffer profound muscle weakness and severe disease symptoms that limit function.30-32
MG is typically diagnosed with a physical examination to evaluate distinct symptoms of muscle weakness, such as impaired eye movement, droopy eyelids, inability to hold the head straight, speech disturbances, and limb weakness. Blood tests for anti-acetylcholine receptor (AchR) or other antibodies are also used, as well as nerve and muscle stimulation and chest computed tomography or magnetic resonance imaging.5,33
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Hypophosphatasia, or HPP, is a genetic, progressive, ultra-rare metabolic disease in which people experience effects on multiple parts of the body, leading to serious complications.7,8 HPP is characterized by defective bone mineralization that can lead to deformity of bones and other skeletal abnormalities.7,8,34 Additional complications can also occur, such as profound muscle weakness, seizures, pain, and respiratory failure leading to premature death in infants.7,8,34 HPP can impair growth in children and can continue to affect a person’s ability to carry out routine daily activities.35,36 Getting a diagnosis of HPP can be straightforward through a combination of full clinical assessment and a routine blood test for low alkaline phosphatase (ALP) activity.7,37
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Lysosomal acid lipase deficiency, or LAL-D, is a genetic, chronic, and progressive ultra-rare metabolic disease. It causes an uncontrolled accumulation of lipids, including cholesteryl esters and triglycerides, which may lead to damage of multiple vital organs, such as the liver, heart, intestines, and spleen.11 LAL-D affects people of all ages, but first symptoms are often experienced during childhood.11 To diagnose LAL-D, measurement of lysosomal acid lipase activity can be performed using a simple blood test.14,38
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Paroxysmal nocturnal hemoglobinuria, or PNH, is a disease that destroys an important part of the blood—the red blood cells.15-19 The constant destruction of red blood cells (called hemolysis) is serious because red blood cells have the important job of helping to deliver oxygen and remove waste from the body.22 The disease can lead to blood clots, chronic kidney disease, lung problems, and fatigue, and an estimated 35 percent of patients die within five years of diagnosis.20,22-24,39 PNH can occur at any age, but the average age at diagnosis is in the early 30s.21
The destruction of red blood cells is the main cause of the major health problems in PNH.15-19 A combination of clinical assessments and lab results, including high-sensitivity flow cytometry testing, can be used to diagnose PNH.40
LEARN MORE ABOUT PNH
Whether you’re living with a rare condition, know someone with one, or just want to show your support, you have the unseen power to take on the challenge of raising awareness of rare diseases around the world.
Learn more about the organizations allied with the rare disease community and raising awareness of rare diseases like aHUS, gMG, HPP, LAL-D, and PNH, as well as how you can help the cause.