When it comes to rare diseases, true strength isn’t measured by physical force, but by one’s courage, resilience, and perseverence.
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.26 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!” 26
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 HPP, LAL-D, aHUS, 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 HPP, LAL-D, aHUS, 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.
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.2,3 HPP is characterized by defective bone mineralization that can lead to deformity of bones and other skeletal abnormalities.2,3,27 Additional complications can also occur, such as profound muscle weakness, seizures, pain, and respiratory failure leading to premature death in infants.2,3,27 HPP can impair growth in children and can continue to affect a person’s ability to carry out routine daily activities.28,29 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.2,30
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.6 LAL-D affects people of all ages, but first symptoms are often experienced during childhood.6 To diagnose LAL-D, measurement of lysosomal acid lipase activity can be performed using a simple blood test.9,31LEARN MORE ABOUT LAL-D This website is not intended for UK audiences. Clicking on this link will take you to a different site; the content of which has not been approved for UK audiences.
Atypical hemolytic uremic syndrome, or aHUS, is a destructive genetic disease that affects vital organs.10,11 aHUS is caused when the complement system, part of the immune system, becomes uncontrolled and attacks the body.10-13The uncontrolled complement causes abnormal clotting and inflammation, which damages tiny blood vessels throughout the body, known as a thrombotic microangiopathy (TMA).10-13 This can lead to organ damage or failure in the kidneys, heart, brain, digestive tract, and other organs, either suddenly or over time.14,15 Although aHUS does affect children, almost half of the people affected are adults.32
Differentiating aHUS from other similar diseases as soon as possible is very important.10,11Some of the signs and symptoms of aHUS include: confusion, diarrhea, nausea, and vomiting, as well as shortness of breath, fatigue, heart symptoms, and kidney symptoms.10-13,32-,36 Certain lab tests can help your doctor determine if you may have aHUS. In particular, he or she can look at your red blood cell and platelet counts to see if they are low.10,14 Creatinine levels can also be measured to see how well your kidneys are working.10,14 The ADAMTS13 laboratory test can help differentiate aHUS from other diseases.10,11LEARN MORE ABOUT aHUS This website is not intended for UK audiences. Clicking on this link will take you to a different site; the content of which has not been approved for UK audiences.
Paroxysmal nocturnal hemoglobinuria, or PNH, is a disease that destroys an important part of the blood—the red blood cells.16-20 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.23 The disease can lead to blood clots, chronic kidney disease, lung problems, and fatigue, and an estimated 35% of patients die within five years of diagnosis.21, 23-25,37 PNH can occur at any age, but the average age at diagnosis is in the early 30s.22
The destruction of red blood cells is the main cause of the major health problems in PNH.16-20 A combination of clinical assessments and lab results, including high-sensitivity flow cytometry testing, can be used to diagnose PNH.38LEARN MORE ABOUT PNH IN THE U.S. LEARN MORE ABOUT PNH IN THE UK
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 HPP, LAL-D, aHUS, and PNH, as well as how you can help the cause.