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Acromegaly is a rare hormonal disorder that occurs when your body makes too much growth hormone (GH). In adults, too much of this hormone causes bones, cartilage, body organs, and other tissues to increase in size. Common changes in appearance include enlarged or swollen nose, ears, hands, and feet.

Activated PI3K Delta Syndrome (APDS) is a very rare inherited condition that affects the immune system. It happens because of changes in certain genes that cause the immune system to work incorrectly. People with APDS often get frequent and serious infections, especially in the lungs and sinuses. Over time, this can lead to swollen lymph nodes, enlarged spleen, lung damage, autoimmune problems, and even a higher risk of lymphoma. Many patients struggle with fatigue, poor growth, and missed school or work.

Living with APDS can be challenging. Most people need lifelong treatments like immunoglobulin therapy, antibiotics, and sometimes hospital stays. Some require immune-modulating drugs or even stem cell transplants. Even with care, lung damage and other complications can make everyday life harder—limiting exercise, causing breathing problems, and creating stress about infections and cancer. This often impacts education, jobs, and family life.

Acute lymphocytic leukemia, commonly referred to as ALL and also called acute lymphoblastic leukemia, is the most common type of cancer in children. With this condition, the bone marrow developes immature cells and they do not fight infection very well. They crowd out the healthy cells, which can lead to infection, anemia, and easy bleeding. These immature cells can also spread to other parts of the body, including the brain and spinal cord.

Alpha mannosidosis is a rare genetic condition characterized by an inability to properly break down certain groups of complex sugars in the body’s cells. The accumulation of sugars affects many of the body’s organs and systems, including the central nervous system. Alpha mannosidosis is one of more than 40 types of lysosomal storage disorders (LSD’s). 

Alzheimer’s disease is an irreversible, progressive brain disorder. It slowly destroys memory and thinking skills and, eventually, the ability to carry out the simplest tasks. Symptoms usually first appear in people in their mid-60s. However, early-onset Alzheimer’s can begin as early as age 30, although this is a rare occurence. Alzheimer’s disease is the most common cause of dementia among older adults.

Amyotrophic lateral sclerosis (ALS) is a rare neurological disease that primarily affects the nerve cells responsible for controlling voluntary muscle movement. It eventually affects the ability to chew, swallow and even breathe. 

Atypical Hemolytic Uremic Syndrome (aHUS) is a rare, life-threatening disorder characterized by uncontrolled activation of the complement system, which leads to damage of blood vessels and the formation of small blood clots throughout the body. This process can cause destruction of red blood cells, low platelet counts, and serious kidney injury. aHUS can occur in both children and adults and may lead to chronic kidney disease or other organ complications. The condition can range from intermittent episodes to severe, progressive disease and can significantly affect long-term health and quality of life.

B-cell lymphoma refers to a group of cancers that attack the immune system. It is the most common type of non-Hodgkin lymphoma. The cancer grows in the B cells, also called B lymphocytes, which make antibodies to attack invading pathogens. 

Skin cancer occurs when there are mutations in the DNA of the skin cells. Each year in the U.S., more people are diagnosed with skin cancer than all other types of cancer combined.  Basal and squamous cell carcinoma are the two most common forms of skin cancer with over 5 million cases estimated last year.  

Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, is a group of rare genetic condition characterized by an inability to properly break down certain groups of complex sugars in the body’s cells. In these disorders, a cells’ ability to remove a waste product called ceroid lipofuscin is affected.

Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.

Bone sarcomas are rare cancers that originate in the bones, accounting for less than 1% of all diagnosed cancers. The three main types are osteosarcoma, Ewing sarcoma, and chondrosarcoma. Symptoms typically include persistent bone pain, swelling, and sometimes fever or pathologic fractures. The severity varies, with those caught early and contained to one tumor having a 70-80% survival rate, while metastatic disease drops to 20-30% survival. Osteosarcoma and Ewing sarcoma primarily affect children and young adults, with a median age of onset in the teenage years, while chondrosarcoma usually occurs in adults aged 40-75.

Breast cancer is a type of cancer that starts in the breast. It can start in one or both breasts and in different parts of the breast. Cancer starts when cells begin to grow out of control. There are many different types of breast cancer and the type is determined by the specific kind of cells in the breast that are affected. Breast cancers are also classified by certain types of proteins or genes each cancer might make.

Burkitt Lymphoma is a fast-growing type of blood cancer that affects the lymphatic system, which helps the body fight infections. It starts in a type of white blood cell and can spread quickly to other parts of the body, like the brain, spine, or abdomen. Burkitt Lymphoma is rare but serious, and it needs immediate treatment. Care usually includes strong chemotherapy, and with early treatment, many people can recover.

Cardiomyopathy occurs when the normal muscle in the heart thickens, stiffens, thins out, or fills with substances the body produces that do not belong in the heart muscle. As a result, the heart muscle’s ability to pump blood is reduces and can lead to irregular heartbeats and heart failure.

Cervical cancer happens when unhealthy cells grow in the cervix, the lower part of the uterus. It is usually caused by a long-lasting infection with certain types of HPV, a common virus. Most HPV infections go away on their own, but some can cause cell changes that may turn into cancer if not found early. In its first stages, cervical cancer often has no symptoms, though it may sometimes cause unusual bleeding, discharge, or pain. The disease usually develops slowly over many years, but if untreated it can spread to nearby organs and become life-threatening. Treatments may include surgery, radiation, chemotherapy, or newer medicines, and can affect fertility and long-term health.

Chronic Kidney Disease is the condition in which the kidneys become damaged and cannot filter the blood as well as they should.  This can cause excessive fluid and waste to remain in the body, leading to other health problems, such as heart disease and stroke. It is estimated that more than 37 million people in the US have chronic kidney disease.

Chronic Lymphocytic Leukemia is a type of cancer that affects a specific kind of white blood cell called B-lymphocytes, which are part of the immune system.

CLL primarily affects older adults, usually those over 60 years old. It is more common in men than in women. This is the most common form of leukemia in adults. Often people discover this disease during routine blood tests that start showing an increased number of lymphocytes (type of cell). As the disease progresses people may experience fatigue, weight loss and frequent infections.

Approximately 20,000 new cases of CLL are diagnosed each year in the United States. It is the most common type of leukemia in adults, with an estimated 200,000 people living with the disease in the US currently.

Chronic obstructive pulmonary disease, or COPD, refers to a group of diseases that cause airflow blockage and breathing-related problems. It includes emphysema and chronic bronchitis. COPD makes breathing difficult for the 16 million Americans who have this disease.

The Clinical Trials Travel Assistance Fund assists with the cost of travel associated with participation in a clinical trial. Clinical trials for rare diseases and cancers often struggle to recruit enough participants, largely due to travel expenses and distance from trial sites. These challenges can delay or prevent the approval of potentially life-saving treatments. These costs disproportionately affect lower-income individuals, rural residents, and racial and ethnic minorities. Travel assistance programs are available based on condition area which are separated into individual programs as listed below. These programs are restricted to those with commercial/private insurance and uninsured individuals. Organizations interested in donating to this fund may choose to contribute to one or more programs.

• Clinical Trial Travel Assistance Program: Adult Oncology Conditions
• Clinical Trial Travel Assistance Program: Pediatric Oncology Conditions
• Clinical Trial Travel Assistance Program: Cardiology Conditions
• Clinical Trial Travel Assistance Program: Neurological Conditions
• Clinical Trial Travel Assistance Program: Immunology Conditions
• Clinical Trial Travel Assistance Program: Endocrinology Conditions
• Clinical Trial Travel Assistance Program: Gastroenterology Conditions
• Clinical Trial Travel Assistance Program: Respiratory Conditions
• Clinical Trial Travel Assistance Program: Infectious Diseases
• Clinical Trial Travel Assistance Program: Mental health/psychiatry Conditions
• Clinical Trial Travel Assistance Program: Dermatology Conditions
• Clinical Trial Travel Assistance Program: Hematology Conditions
• Clinical Trial Travel Assistance Program: Ophthalmology Conditions
• Clinical Trial Travel Assistance Program: Rheumatology Conditions
• Clinical Trial Travel Assistance Program: Urology Conditions

Colorectal cancer is a disease in which cells in the colon or rectum grow uncontrollably, often beginning as small polyps that can become cancerous over time. It’s among the most common and deadly cancers in the U.S., though early detection through regular screening can significantly reduce mortality. Because symptoms often appear late, many people are diagnosed at advanced stages when treatment is more complex. The disease can cause abdominal pain, rectal bleeding, changes in bowel habits, fatigue, and weight loss, all of which can limit a person’s ability to work and carry out daily activities.

Common Variable Immune Deficiency (CVID) is a chronic primary immune disorder in which the body’s immune system does not produce sufficient functional antibodies to protect against infections. As a result, individuals often experience recurrent infections of the sinuses, ears, lungs, and other organs, and may also develop autoimmune conditions or chronic inflammation affecting multiple organ systems.

The condition is lifelong and progressive if not adequately treated. Management typically needs ongoing immune-modulating therapy (such as immunoglobulin replacement), infection-prevention strategies, and regular follow-up with specialists. Without consistent treatment and monitoring, people with CVID remain at risk for chronic lung disease, gastrointestinal complications, liver disease, and an increased likelihood of certain malignancies.

Cystic fibrosis is a progressive, genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs – which limits the ability to breathe.

Cystinosis is a rare genetic condition that causes a buildup of a natural substance called cystine in the body. Over time, this buildup can damage the kidneys, eyes, muscles, and other parts of the body. It often starts in babies or young children and can lead to serious health problems if not treated. Medicines can help lower cystine levels and slow down damage, but treatment needs to be taken every day to work well.

Diabetes is a chronic condition in which the body does not properly process food for use as energy. Most of the food we eat is turned into glucose, or sugar, for our bodies to use for energy. The pancreas, an organ that lies near the stomach, makes a hormone called insulin to help glucose get into the cells of our bodies. With diabetes, your body doesn’t make enough insulin or can’t use it as well as it should. More than 37 million US adults have diabetes, and 1 in 5 of them don’t know they have it.

This fund supports individuals experiencing symptoms like memory loss or motor dysfunction that may signal a neurodegenerative disorder. It provides access to precision diagnostics — including genetic sequencing and biomarker analysis — to aid in the early detection of conditions such as Alzheimer’s, Parkinson’s, or Huntington’s disease. Early and accurate diagnosis helps guide treatment planning, improve disease management, and connect individuals to essential support services.

This fund supports adults experiencing muscle weakness, coordination loss, or other symptoms that may indicate a neuromuscular condition. It offers access to advanced diagnostic testing — including genetic testing and biomarker analysis — to help identify conditions such as ALS, Myasthenia Gravis, or Multiple Sclerosis. These precision tools are critical for confirming the specific diagnosis, informing treatment planning, and ensuring timely access to appropriate therapies or clinical trials.

This fund supports adults with suspected brain or spinal tumors by providing access to critical diagnostic testing — including genetic testing and tumor marker analysis — to help classify the tumor and inform treatment planning. For conditions like glioblastoma or meningioma, advanced testing such as genomic profiling may be needed to determine eligibility for targeted therapies or clinical trials, which can be especially important for individuals facing aggressive or rare tumor types.

This fund supports adults with signs or imaging results that may indicate a rare sarcoma, such as liposarcoma or osteosarcoma. It provides access to genetic and precision biomarker testing to help accurately identify the tumor type and guide the care team’s approach. These diagnostics are especially important when the disease is fast-moving or has already spread, helping ensure timely decisions around surgery, chemotherapy, or clinical trial options.

This fund supports adults with symptoms or imaging findings that may point to a rare sarcoma, such as liposarcoma or osteosarcoma. It provides access to genetic and precision biomarker testing to help accurately classify the tumor and guide treatment planning. These diagnostics are especially important when quick decisions are needed around surgery or chemotherapy, particularly in cases where the disease is aggressive or has spread.

This fund supports individuals with solid tumors, such as breast, lung, or colorectal cancer, by providing access to essential diagnostic testing — including genetic and biomarker testing like HER2, KRAS, and EGFR. These tools help identify tumor subtypes and guide treatment decisions, ensuring patients are matched with the most effective, personalized therapies. Precision diagnostics like these are especially critical for those who may not have access to large cancer centers or specialized oncology care.

This fund supports individuals with suspected autoimmune diseases by providing access to advanced diagnostic tools — including genetic panels, autoantibody markers, and immune system profiling. These conditions, like lupus, rheumatoid arthritis, or autoimmune encephalitis, are often complex and misdiagnosed without precision testing. Early and accurate diagnostics help guide timely treatment decisions and support long-term disease management.

This fund supports individuals with suspected inherited or rare cardiovascular conditions by providing access to precision diagnostics — including genetic testing and biomarker screening. These tools are critical for identifying conditions like cardiomyopathies or arrhythmogenic syndromes, which often go undiagnosed for years. Early detection can help prevent sudden cardiac events and guide appropriate lifestyle changes, treatment plans, and ongoing care.

This fund supports individuals undergoing evaluation for suspected or rare infections that may resemble autoimmune or malignant conditions. It provides access to molecular and biomarker testing to help identify specific pathogens — whether bacterial, viral, fungal, or parasitic — and guide the most appropriate course of treatment. These precision diagnostics are especially important for individuals with atypical symptoms or weakened immune systems.

This program supports individuals with symptoms that may point to an inherited metabolic disorder, such as Fabry disease, Gaucher disease, or phenylketonuria. It provides access to genetic and enzyme testing to help confirm a diagnosis and guide timely treatment. Because these conditions often present with vague or nonspecific symptoms, precision diagnostics are key to preventing long-term organ damage or disability.

This fund supports families of children with seizure disorders or developmental delays by providing access to genetic and biomarker testing. These precision diagnostics help identify underlying conditions such as Dravet syndrome, CDKL5 deficiency, or Lennox-Gastaut syndrome. An accurate diagnosis not only guides personalized treatment plans but also improves access to early interventions, support services, and emerging therapies. Timely testing is especially important in early childhood, when rapid diagnosis can significantly impact developmental outcomes and quality of life.

This fund supports children experiencing loss of motor or cognitive function who may be facing a rare neurodevelopmental or neurodegenerative condition. It provides access to diagnostic testing — including genetic sequencing and metabolic panels — to help confirm conditions such as Batten disease, alpha-mannosidosis, or lysosomal storage disorders. Early and accurate identification is critical for guiding treatment decisions, care planning, and connecting families with long-term support services.

This fund supports children showing signs of neuromuscular conditions — such as delayed motor skills, hypotonia, or frequent falls — by providing access to advanced diagnostics. This includes genetic testing for conditions like Duchenne Muscular Dystrophy or Charcot-Marie-Tooth Disease. Early and accurate diagnosis is key to guiding therapy, coordinating school accommodations, and improving long-term quality of life for both children and their families.

This fund supports children with signs of brain or spinal tumors by providing access to diagnostic imaging and tumor marker testing. Conditions like medulloblastoma or gliomas often require advanced molecular profiling to accurately guide treatment. Precision diagnostics are essential for selecting the most appropriate therapies while helping minimize long-term effects on a child’s development and quality of life.

This program supports children with suspected blood cancers by providing access to essential diagnostics, including genetic, cytogenetic, and flow cytometry-based testing. These tools help identify conditions like acute lymphoblastic leukemia (ALL) or chronic myeloid leukemia (CML). Early and precise diagnosis is critical to selecting the right treatment regimen and improving survival and long-term outcomes.

This fund supports children with symptoms of soft tissue or bone cancers by providing access to precision diagnostics, including genomic profiling. These tools help identify rare tumors such as osteosarcoma or synovial sarcoma and play a critical role in guiding curative treatment plans — including surgery, chemotherapy, or clinical trials — at the earliest possible stage.

This program supports children with suspected solid tumors by providing access to genetic and precision biomarker testing. Conditions like Wilms tumor and pediatric renal cancers require urgent and specialized diagnostics to accurately classify the disease. Early identification is essential for guiding targeted therapies and surgical planning — especially in young patients, where timing can significantly impact outcomes.

Diffuse Large B-Cell Lymphoma (DLBCL) is a type of non-Hodgkin lymphoma that beings in the lymphatic system. It affects a specific type of white blood cell that plays a crucial role in the immune system.

Symptoms of DLBCL can develop quickly and may include swollen lymph nodes, fever, weight loss and fatigue.

​​​​Some people may also experience abdominal pain, chest pain, or difficulty breathing if the lymphoma spreads to those areas. DLBCL is aggressive and spreads quickly, but it is also one of the most treatable types of lymphoma when diagnosed early.

DLBCL is the most common type of non-Hodgkin lymphoma in the United States, accounting for about 22-24% of all non-Hodgkin lymphoma cases. Each year, approximately 18,000 to 20,000 new cases of DLBCL are diagnosed in the U.S. DLBCL can affect individuals of any age but is more common in older adults, particularly those over the age of 60. It is slightly more common in men than in women.

Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak.

Eosinophilic esophagitis (EoE) is a chronic, allergic inflammatory disease of the esophagus. It occurs when a type of white blood cell, the eosinophil, accumulates in the esophagus. The elevated number of eosinophils cause injury and inflammation to the esophagus, making it difficult to eat due to pain and inflammation. Eosinophilic esophagitis was once thought to be a component of gastroesophageal reflux disease (GERD), but is now known to be a separate entity with other treatment options.

Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare autoimmune disease that causes swelling and damage in small and medium-sized blood vessels. It happens when the immune system attacks the body’s own tissues, especially in the lungs, nerves, skin, and digestive organs. People with EGPA often have a history of severe asthma, chronic sinus infections, and high levels of eosinophils (a type of white blood cell). The symptoms can vary but may include numbness, fatigue, pain, rashes, and trouble breathing.

Over time, EGPA can lead to serious problems like heart inflammation, nerve damage, or organ failure if it’s not treated. Treatment usually includes medications to lower inflammation and control the immune system. Supportive therapies help with asthma symptoms, pain, or mobility issues. With early diagnosis and the right treatment, many people can manage their symptoms, but relapses and complications can still occur.

Epidermolysis bullosa (EB) is a group of rare genetic disorders characterized by extremely fragile skin that blisters and tears easily. There are four main types of EB: simplex, junctional, dystrophic, and Kindler syndrome, each varying in severity from mild to life-threatening. Common symptoms include painful blisters on the skin and mucous membranes, which can lead to scarring, fusion of fingers and toes, and complications affecting internal organs. 

Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations, and sometimes loss of awareness.

Facioscapulohumeral muscular dystrophy, or FSHD, is a genetic disorder that leads to the weakening of skeletal muscles. Typically beginning in early teenage years with the loss of muscles in the face (facio), shoulders (scapula), upper arms (humerus), legs or core, FSHD can spread to any muscle. Around 20 percent will need a wheelchair by age 50. Over 70 percent experience debilitating pain and fatigue. There is currently no effective treatment or cure. This disorder impacts an estimate of 1 in 8,000 individuals – or 870,000 people worldwide. About ten percent develop symptoms before age 10.

Fibrodysplasia ossificans progressiva (FOP) is a very rare genetic connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and skeletal muscles.

Follicular lymphoma (FL) is a form of non-Hodgkin lymphoma that affects cells called B lymphocytes. The most common symptom is painless swelling of lymph nodes. Other symptoms may include fatigue, unexplained weight loss, night sweats, and frequent infections. FL usually progresses slowly over years but can occasionally transform into a more aggressive lymphoma.

Close to 14,000 new cases are expected to be diagnosed each year in the US. The disease primarily affects older adults and is more common in Caucasians, with non-Hispanic whites having the highest incidence rate of 4.1 per 100,000, compared to 2.4 for non-Hispanic blacks and 1.7 for Asian/Pacific Islanders.

The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to break down lipids. Lipids are fatty substances like oils, waxes, steroids, and other compounds that are important parts of the membranes found within and between cells and the myelin layer that coats and protects the nerves. The GM1 and GM2 gangliosidoses – which includes Tay-Sachs disease and it’s more severe form, Sandhoff disease – have deficiencies of the enzyme beta-hexosaminidase.

Gastrointestinal (GI) cancer is a term used for the group of cancers that affect the gastrointestinal tract and other organs that are contained within the digestive system, including the esophagus, pancreas, stomach, colon, rectum, anus, liver, biliary system, and small intestine.

Graft-versus-host disease (GVHD) is a serious immune-mediated complication of allogeneic stem cell or bone marrow transplantation. It occurs when donor immune cells attack the recipient’s tissues and may present as acute or chronic disease. GVHD is an acquired condition related to transplant and immune compatibility, not a genetic disorder.

GVHD can be long-term or lifelong and commonly affects the skin, gastrointestinal tract, liver, lungs, eyes, and mouth. Symptoms may include skin rashes, diarrhea, liver dysfunction, dry eyes or mouth, joint stiffness, and pulmonary impairment. Ongoing immunosuppressive treatment and monitoring are often required to prevent progressive organ damage and serious infections.

The condition significantly impacts daily functioning and quality of life, often beginning within months of transplant and persisting for years. Individuals frequently need long-term specialty care, infection prevention strategies, and supportive management for organ complications. Frequent medical visits, medication burden, and caregiver involvement are common and place sustained physical, emotional, and financial strain on patients and their families.

Guillain-Barre (gee-YAH-buh-RAY) syndrome is a rare disorder in which your body’s immune system attacks your nerves. Weakness and tingling in your extremities are usually the first symptoms. These sensations can quickly spread, eventually paralyzing your whole body. 

Hairy Cell Leukemia is a rare type of blood cancer that affects a kind of white blood cell called B cells. These cells build up in the bone marrow and spleen, making it hard for the body to make healthy blood cells. People with this condition may feel tired, get infections often, or notice a swollen spleen. It usually grows slowly and can be treated with medications like chemotherapy or targeted therapy.

According to ongoing studies by the CDC, heart disease is the leading cause of death in the United States. Coronary artery disease (CAD) is the most common type of heart disease and affects at least 20 million adults in the US. CAD is also the leading cause of heart attacks. A heart attack is when part of the heart muscle does not get enough blood and can cause damage. Fast treatment is important because treatment delays cause worsening heart damage. About 805,000 people have a heart attack each year in the US. High blood pressure and high blood cholesterol are key risk factors for heart disease. Consistent and adequate control of both is imperative to lower risks associated with heart disease.

Hepatitis C is a liver infection caused by the hepatitis C virus (HCV). Hepatitis C is spread through contact with blood from an infected person. Today, most people become infected with the hepatitis C virus by sharing needles or other equipment used to prepare and inject drugs.

HIV stands for human immunodeficiency virus.  It weakens a person’s immune system by destroying cells that help fight disease and infection. While there is currently no effective cure for HIV, it can be controlled with proper medical care. Prevention of transmission of HIV is also now possible with highly effective treatments. 

HIV stands for human immunodeficiency virus.  It weakens a person’s immune system by destroying cells that help fight disease and infection. While there is currently no effective cure for HIV, it can be controlled with proper medical care. Prevention of transmission of HIV is also now possible with highly effective treatments. 

HIV stands for human immunodeficiency virus.  It weakens a person’s immune system by destroying cells that help fight disease and infection. While there is currently no effective cure for HIV, it can be controlled with proper medical care. Prevention of transmission of HIV is also now possible with highly effective treatments. 

HIV stands for human immunodeficiency virus.  It weakens a person’s immune system by destroying cells that help fight disease and infection. While there is currently no effective cure for HIV, it can be controlled with proper medical care. Prevention of transmission of HIV is also now possible with highly effective treatments. 

ITP is a condition in which platelets (blood cells that cause blood clots to form) are destroyed by the immune system. The low platelet count causes easy bruising and bleeding, which may be seen as purple areas in the skin, mucous membranes, and outer linings of organs.

Inflammatory bowel disease (IBD) is an umbrella term used to describe disorders that involve chronic inflammation of your digestive tract. Ulcerative colitis and Crohn’s are two types of IBD. This condition involves inflammation and sores (ulcers) along the superficial lining of your large intestine (colon) and rectum.

Inherited Retinal Dystrophies (IRD) and Macular Degeneration are eye disorders that are often caused by an inherited gene mutation.  These can result in vision loss or blindness. IRD affects 1 in 3500 people in the U.S. and Europe.

Interstitial lung disease refers to a larger group of disorders that cause inflammation and scarring in the tissue around the air sacs of the lungs. This scarring makes the lungs stiff and less able to move oxygen into the bloodstream. People with ILD often experience shortness of breath, dry coughing, and fatigue that gradually worsen over time. ILD can develop from autoimmune conditions, environmental or occupational exposures, certain medications, or unknown causes. Because the disease progresses differently for each person, early recognition and ongoing medical care are important to maintain lung function and quality of life.

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating.

Lambert Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases such as vitiligo or may coincide with or precede a diagnosis of cancer such as small cell lung cancer. Symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth.

LGMD can begin in childhood, adolescence, young adulthood, or even later. Both genders are affected equally.

Lipodystrophy is a rare group of disorders characterized by the loss of body fat (adipose tissue), which can be partial or generalized, inherited or acquired. The main symptoms include abnormal fat distribution, insulin resistance, diabetes, hypertriglyceridemia, and fatty liver disease. The severity varies widely, from mild cases with localized fat loss to severe generalized forms with life-threatening metabolic complications. Common physical features include prominent musculature, enlarged liver and spleen, and acanthosis nigricans. Mental health issues, such as depression and anxiety, are also prevalent due to the impact on physical appearance and quality of life.

Systemic lupus erythematosus (SLE) or Lupus is a chronic, multisystem autoimmune disease in which the immune system attacks healthy tissues, causing widespread inflammation that can affect the skin, joints, kidneys, heart, lungs, and central nervous system. The disease course is highly variable—ranging from mild to life-threatening—and marked by cycles of flares and remission. Despite significant advances in treatment, lupus remains one of the most complex autoimmune diseases to manage due to its unpredictable nature and multi-organ involvement.

Lysosomal Acid Lipase Deficiency (LAL) is a rare, progressive inherited disorder that affects the body’s ability to produce an enzyme called lysosomal acid lipase. This enzyme is needed in order to breakdown fats and cholesterol in your cells. When this enzyme is missing, fats accumulate in organs and tissues throughout the body leading to liver and cardiovascular disease.

Mantle cell lymphoma (MCL) is a rare and aggressive form of non-Hodgkin lymphoma that affects B-lymphocytes in the mantle zone of lymph nodes. MCL typically presents with swollen lymph nodes, fatigue, night sweats or unexplained abdominal swelling. This can be an aggressive and fast-growing cancer.

MCL affects middle-aged to older adults, with a median age of diagnosis around 65 years. Males are four times as likely to be diagnosed as women. There are close to 4,000 new diagnoses each year.

Marginal Zone Lymphoma (MZL) is a slow-growing type of blood cancer that affects certain white blood cells in the immune system. It can start in the lymph nodes, the spleen, or other tissues like the stomach or lungs. Some people may not have symptoms at first, but others may feel tired, notice swollen lymph nodes, or get frequent infections. Treatment depends on how fast the cancer is growing and may include monitoring, medication, or chemotherapy.

Metachromatic leukodystrophy is a rare hereditary (genetic) disorder that causes fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This buildup is caused by a deficiency of an enzyme that helps break down lipids called sulfatides. 
 

Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ, and system functioning, and, in most cases, mental development. One type is called MPS II (MPS 2, also known as Hunter syndrome) is caused by lack of the enzyme iduronate sulfatase. MPS II is the only mucopolysaccharidosis disorder in which the mother alone can pass the defective gene to a son (called X-linked recessive). The disease is almost exclusively found in young males, although cases of affected females have been reported. People with MPS II typically experience joint stiffness, progressive loss of skills, retinal degeneration, and progressive hearing loss.

Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ, and system functioning, and, in most cases, mental development. One type is called MPS III (MPS 3, also known as Sanfilippo Syndrome) is marked by severe neurological symptoms that include progressive dementia, aggressive behavior, hyperactivity, seizures, some deafness and vision loss, and an inability to sleep for more than a few hours at a time.

Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ, and system functioning, and, in most cases, mental development. One type is called MPS IV (MPS 4, also known as Morquio Syndrome) and is further classified as Type A or Type B. They are similar in symptoms, but Type A appears to be less severe. People with MPS IV experience spinal nerve compression, clouded corneas, hearing loss, joint stiffness, and restricted breathing.

Mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. The result is permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ, and system functioning, and, in most cases, mental development. One type is called MPS VI (MPS 6, also known as Maroteaux-Lamy Syndrome) has a variable range of severe symptoms. While children usually have average intellectual development, they share many of the physical symptoms found in other more severe forms of MPS. These patients may become deaf, have clouding of their cornea, heart and heart valve disease and progressive skeletal changes.

Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.

Multifocal Motor Neuropathy (MMN) is a rare disorder characterized by slowly progressive muscle weakness, primarily of the arms and legs. The term multifocal means arising from two or more spots. The term motor refers to the motor nerves, which are those that carry nerve impulses from the brain to the muscles. The exact underlying cause of this disorder is not fully understood. The disorder is acquired at some point during a person’s life; a person is not born with the disorder.

Multiple myeloma cells are abnormal plasma cells (a type of white blood cell) that build up in the bone marrow and form tumors in many bones of the body. Normal plasma cells make antibodies to help the body fight infection and disease.

Myelodysplastic syndromes are a group of cancers in which immature blood cells in the bone marrow do not mature or become healthy blood cells. Patients who have myelodysplastic syndromes have immature blood stem cells that don’t mature over time, as they should. These non-functional immature cells begin to take up space in the blood, leaving fewer healthy blood cells. As many as 30,000 new cases are diagnosed each year. It’s uncommon before age 50, and the risk increases as a person ages. Approximately 170,000 people currently suffer with MDS in the US.

Myotonic dystrophy (often shortened to “DM”) is a genetic disorder that affects many parts of the body. There are different types of DM, and some cause more serious problems than others. There is currently no cure for myotonic dystrophy but actively managing symptoms can help individuals achieve quality of life.  The worldwide average incidence is 1 in 8000 people. It is believed that at least three million people are impacted by Myotonic dystrophy globally, but it is believed to be under reported.

Neuromyelitis optica (NMO), also known as Devic’s disease, is a rare condition where the immune system damages the spinal cord and the nerves of the eyes (optic nerves). NMO can affect anyone at any age, but it’s more common in women than men.

Niemann-Pick disease refers to a group of inherited metabolic disorders (lysosomal storage disorders) in which abnormal amounts of lipids (fatty materials such as waxes, oils, and cholesterol) build up in the brain, spleen, liver, lungs, and bone marrow. Defective or insufficient amounts of enzymes are unable to break down lipids into smaller components to provide energy for the body.

Obesity is a common, serious, and costly chronic disease of adults and children that continues to increase in the United States. Stigmas associated with weight can have devastating social, psychological, and physical effects for people living with obesity. Conditions related to obesity include heart disease, stroke, type 2 diabetes, and certain types of cancer. These are among the leading causes of preventable, premature death.

Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by progressive muscle weakness. It primarily affects the muscles of the eyes (oculo-) and throat (pharyngeal), leading to difficulties in swallowing (dysphagia) and drooping eyelids (ptosis).

Ovarian cancer arises when abnormal cells develop in or on the ovaries and grow unchecked, often spreading before symptoms are recognized. Because early signs are vague and overlap with common conditions, many U.S. cases are diagnosed at advanced stages. About 19,000 women are diagnosed annually, with risk highest in those aged 55 and older, though younger women may also be affected. Genetic factors such as BRCA mutations play a role, and outcomes are shaped by access to early detection, specialized care, and counseling.

Pancreatic cancer is cancer that forms in the cells of the pancreas. Pancreatic cancer begins in the tissues of your pancreas — an organ in your abdomen that lies behind the lower part of your stomach. Your pancreas releases enzymes that aid digestion and produces hormones that help manage your blood sugar.

Parkinson’s disease is a brain disorder that causes unintended or uncontrollable movements, such as shaking, stiffness, and difficulty with balance and coordination. Symptoms usually begin gradually and worsen over time. As the disease progresses, people may have difficulty walking and talking.

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare blood disorder where the body’s immune system attacks red blood cells. This can lead to symptoms like fatigue, dark-colored urine, shortness of breath, and a higher risk of blood clots. PNH can be serious, but there are treatments that help protect red blood cells and reduce symptoms. Some people may need ongoing medication or blood transfusions to stay well.

Phenylketonuria, often called PKU, is an inherited disorder that can cause intellectual and developmental disabilities if not treated. In PKU, the body cannot process a portion of a protein called phenylalanine, which is in all foods containing protein. If the phenylalanine level gets too high, the brain can become damaged. All children born in U.S. hospitals are tested routinely for PKU soon after birth, making it easier to diagnose and treat affected children. Lifelong treatment and dietary restrictions are necessary as there is no cure for PKU currently.

Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.

Prostate cancer is marked by an uncontrolled (malignant) growth of cells in the prostate gland. The prostate is the walnut-sized gland in men, located just below the bladder and in front of the rectum, surrounding the urethra – the tube that carries urine out of the bladder. The prostate produces and stores fluid that helps to make semen. Prostate cancer is the most common type of cancer found in men in the United States, aside from skin cancer, and often begins without symptoms. 

Pulmonary hypertension happens when the pressure in the blood vessels leading from the heart to the lungs is too high. With pulmonary hypertension, the blood vessels to the lungs develop an increased amount of muscle in the wall of the blood vessels.

Rheumatoid arthritis (RA) is a long-term disease where the body’s immune system mistakenly attacks the joints, especially in the hands, wrists, and knees. This causes swelling, pain, and stiffness that can make it hard to move or do everyday activities. Over time, RA can damage joints permanently and may also affect other parts of the body like the lungs, heart, or eyes. It usually gets worse without treatment, but many people can live well with the right medicine and support.

Sarcoidosis is a condition that develops when groups of cells in your immune system form red and swollen (inflamed) lumps, called granulomas, in various organs in the body. This inflammatory process can be caused by infections or environmental factors. Sarcoidosis can affect any organ. Most often it affects the lungs and lymph nodes in the chest. It causes fatigue and other symptoms depending on what part of the body is impacted. While some individuals can make a full recovery, for others the disease causes permanent scarring (fibrosis) in the lungs or other organs and can lead to life-threatening heart or lung problems.

Schizophrenia is a chronic and severe mental disorder that affects a person’s thoughts, feelings and behaviors.  This disorder affects a person’s perception of reality, social interactions and thought processes.  People with schizophrenia can have trouble distinguishing reality from fantasy, expressing, and managing normal emotions and making decisions. While schizophrenia is a chronic disorder, it can be treated with medication, psychological and social treatments, substantially improving the lives of people with the condition.

Schizophrenia is a chronic and severe mental disorder that affects a person’s thoughts, feelings and behaviors.  This disorder affects a person’s perception of reality, social interactions and thought processes.  People with schizophrenia can have trouble distinguishing reality from fantasy, expressing, and managing normal emotions and making decisions. While schizophrenia is a chronic disorder, it can be treated with medication, psychological and social treatments, substantially improving the lives of people with the condition.

Schizophrenia is a chronic and severe mental disorder that affects a person’s thoughts, feelings and behaviors.  This disorder affects a person’s perception of reality, social interactions and thought processes.  People with schizophrenia can have trouble distinguishing reality from fantasy, expressing, and managing normal emotions and making decisions. While schizophrenia is a chronic disorder, it can be treated with medication, psychological and social treatments, substantially improving the lives of people with the condition.

Schizophrenia is a chronic and severe mental disorder that affects a person’s thoughts, feelings and behaviors.  This disorder affects a person’s perception of reality, social interactions and thought processes.  People with schizophrenia can have trouble distinguishing reality from fantasy, expressing, and managing normal emotions and making decisions. While schizophrenia is a chronic disorder, it can be treated with medication, psychological and social treatments, substantially improving the lives of people with the condition.

Severe combined immunodeficiency (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID appear healthy at birth but are highly susceptible to severe infections.

Sickle cell disease is group of disorders that cause red blood cells to become misshapen into a sickle shape and break down.  This causes the cells to die, leaving a shortage of healthy red blood cells and can block blood flow causing pain.  Infections, pain, and fatigue are common symptoms. 

Soft tissue sarcomas are rare cancers that grow in soft tissue of the body, like muscles, fat or blood vessels.  They can happen anywhere in the body, but are most common in the arms, legs and abdomen. These rare cancers only account for about 1% of all adult cancers.

The American Cancer Society estimates 13,590 new cases of soft tissue sarcomas in the US annually. There are approximately 50,000 people in the US living with soft tissue sarcomas today. It tends to affect the older population but can occur at any age. African Americans tend to have poorer survival outcomes compared to white patients – potentially due to a combination of biological factors and socioeconomic disparities affecting their access to care.

SMA is a genetic disorder that starts in the central nervous system (CNS) and affects all the muscles in the body.  Due to the degenerative nature of the disease, people with SMA will experience a decline in muscle strength over time, although the rate and severity can vary among individuals.

A stroke happens when blood flows to the brain is blocked. This prevents the brain from getting oxygen and nutrients from the blood. Without oxygen and nutrients, brain cells begin to die within minutes. Sudden bleeding in the brain can also cause a stroke if it damages brain cells. A stroke is a medical emergency. It can cause lasting brain damage, long-term disability, or even death. Stroke is the leading cause of serious long-term disability in the United States. It is also a leading cause of death.

Tenosynovial Giant Cell Tumor (TGCT) is a rare disease that grows in the soft parts of the joints, like the knee or hip. It mostly affects young or middle-aged adults and can cause pain, swelling, and problems moving the joint. Sometimes it comes back even after surgery, and people may need more than one operation. The more serious kind, called diffuse TGCT, is harder to treat and can cause lasting joint damage.

Thyroid Eye Disease (TED) is a rare condition that causes swelling and changes around the eyes. It happens when the body’s immune system attacks the muscles and tissues behind the eyes. This can lead to bulging eyes, eye pain, double vision, and trouble closing the eyes. TED often affects people with thyroid problems like Graves’ disease. In serious cases, it can affect vision. Treatment may include medicine, eye drops, or surgery to help protect the eyes and improve how they feel and look.

Urea cycle disorders (UCD) are congenital diseases that are caused by a dysfunctional urea cycle. The genetics and biochemistry of these disorders have been extensively studied. They are the result of a deficiency of one of the six enzymes that catalyze the various biochemical reactions in the urea cycle which converts ammonia to urea for removal via urine.  UCD’s belong to inborn errors of metabolism that are associated with fatal brain damage and death in newborns.  

Waldenstrom’s macroglobulinemia (WM) is a rare blood cancer affecting approximately 3 in every million people annually in the United States. Predominantly diagnosed in older adults, most patients are around the age of 70 when diagnosed, with men being twice as likely to develop WM as women. The condition is also more common among White individuals compared to other racial groups. WM leads to the overproduction of abnormal white blood cells, resulting in symptoms such as extreme fatigue, swollen lymph nodes, unexplained weight loss, night sweats, and occasional nose or mouth bleeding.

Although WM is generally incurable, it can often be managed as a chronic condition. Diagnosis involves detecting specific proteins in the blood and analyzing bone marrow samples. Treatment options have advanced over time and may include targeted therapies, antibody treatments, chemotherapy, and other medications to control the disease. Ongoing research aims to develop new treatments for patients who do not respond well to existing therapies. Despite improved survival rates with newer treatments, challenges remain, such as addressing disparities in disease impact across different racial groups and managing treatment side effects.

Wiskott–Aldrich syndrome (WAS) is a rare, inherited primary immune deficiency caused by a genetic mutation affecting clotting and immune function. The condition is present from birth and primarily affects males due to its X-linked inheritance pattern.

WAS is a lifelong condition requiring ongoing management. Individuals are prone to recurrent infections, bleeding complications due to low platelet counts, and inflammatory or autoimmune manifestations. Symptoms commonly include frequent infections, easy bruising or bleeding, eczema, and increased risk of serious immune-related complications. Without consistent medical care and immune-supportive treatment, complications can lead to long-term organ damage and reduced quality of life.

The condition has a significant impact on daily life, often beginning in infancy or early childhood. Ongoing specialty care, regular medical monitoring, immune-supportive therapies, infection prevention strategies, and caregiver involvement are typically required. Frequent healthcare visits and complex care needs place sustained physical, emotional, and financial strain on individuals and their families.

X-linked agammaglobulinemia (XLA) is a rare, inherited primary immune deficiency characterized by a near-complete absence of functional antibodies. This deficit results in significant vulnerability to infections. The condition is genetic and present from birth, overwhelmingly affecting males due to its X-linked inheritance pattern.

XLA is a lifelong condition requiring ongoing management. Individuals are prone to recurrent and severe bacterial infections, particularly affecting the respiratory tract, ears, sinuses, and gastrointestinal system. Without consistent immune-supportive treatment, infections can lead to permanent organ damage.

The condition has a substantial functional impact on daily life, often beginning in infancy. Individuals require regular medical monitoring, lifelong immune-supportive therapy, infection prevention strategies, and prompt treatment of infectious episodes. Frequent healthcare encounters, travel to specialty providers, and caregiver involvement are common and place ongoing strain on families.