A

Acute Leukemia: a broad group of medical conditions related to a leukemia diagnosis. Forms of acute leukemia include: Acute lymphoblastic leukemia, chronic myelogenous leukemia, acute myelogenous leukemia, acute erythroid leukemia, T-cell acute lymphoblastic leukemia, adult T-cell leukemia/lymphoma, precursor t acute lymphoblastic leukemia/lymphoma

Adrenal Cancer – with distant metastases or inoperable, unresectable, or recurrent: cancer of the adrenal glands, located on top of the kidneys, so long as the cancer has either spread from the original site, cannot be operated on, cannot be cut out, or comes back repeatedly.

Alexander Disease (ALX) – Neonatal and Infantile: a rare degenerative neurological condition primarily affecting infants and children. The condition causes developmental delays and alters some physical characteristics.

Alstrom Syndrome: a rare genetic disorder affecting multiple organ systems producing a wide variety of symptoms, usually characterized by changes in vision hearing, and developmental delay. It may cause childhood obesity, diabetes, and heart disease with slow progression to kidney disease.

Amegakaryocytic Thrombocytopenia: more commonly known as AMEGA, is a bone marrow failure condition caused by the body’s inability to produce adequate platelets, resulting in abnormal bruising and bleeding.

Amyotrophic Lateral Sclerosis (ALS): also known as Lou Gehrig’s Disease, is a type of muscular dystrophy characterized by slow nerve cell death in the brain and spinal cord.

Anaplastic Adrenal Cancer – with distant metastases or inoperable, unresectable, or recurrent: cancer of the adrenal glands, located on top of the kidneys that does not increase hormone production, and presents primarily with abdominal pain. To qualify, the cancer must either: spread from the original site, cannot be operated on, cannot be cut out, or comes back repeatedly.

Aortic Atresia: a rare and fatal congenital (present at birth) heart condition that generally causes death in the neonatal period. A person with this condition lacks, or has a very small, valvular opening from the left ventricle of the heart into the aorta.

Astrocytoma – Grade III and IV: a type brain cancer. Grade III refers to anaplastic astrocytoma which grows faster grade II and most often affects adults aged 30 to 50, representing 4% of all brain tumors. Grade IV refers to glioblastoma and represents the most aggressive form of this cancer, accounting for 23% of the brain tumors in adults aged 50 to 80.

Ataxia Telangiectasia: a rare degenerative neurological condition affecting balance, causing blood vessel widening, and impairing immune system function.

B

Batten Disease: a rare and fatal degenerative neurological condition presenting in childhood, associated with blindness, seizures, and brain atrophy.

Bilateral Retinoblastoma: a tumor that develops on the retina, or the nerve rich cells at the back of the eye, on both of the eyes.

Bladder Cancer – with distant metastases or inoperable or unresectable: cancer of the bladder, the organ responsible for holding urine before it leaves the body, that has either spread from the original site, or cannot be operated on, cannot be cut out.

Bone Cancer – with distant metastases, or inoperable, or unresectable: cancer of the skeletal system that has either spread from the original site, cannot be operated on, or cannot be cut out. Bone cancers are more common in people with cancer of other organs including the breasts, kidneys, lungs, or prostate, that has spread to the skeletal structure.

Breast Cancer – with distant metastases, or inoperable, or unresectable: cancer of the breast tissue that has either spread from the original site, cannot be operated on, or cannot be cut out. There are two common forms of breast cancer, one known as ductal carcinoma that affects the tubes that move milk from the breast to the nipples, and the other known as lobular carcinoma that affects the lobules, or parts of the breast that make milk.

C

Canavan Disease (CD): a rare genetic degenerative cerebral condition causing progressive nerve cell damage.

Cerebro Oculo Facio Skeletal (COFS) Syndrome: a rare congenital disorder characterized by photosensitivity, premature aging, growth failure, and impaired central nervous system development.

Chronic Myelogenous Leukemia (CML) – Blast Phase: final stage of white blood cell cancer.

Creutzfeldt-Jakob Disease (CJD) – Adult: a degenerative and infectious brain disease that causes brain tissue to develop holes and take on a sponge-like texture.

Cri du Chat Syndrome: a rare genetic condition caused by a missing portion of the fifth chromosome, characterized by a cat-like cry in infancy, growth failure, and mental retardation.

D

Degos Disease, Systemic: a vascular system disease affecting small and medium arteries and creating a vessel blockage and tissue death.

E

Early-Onset Alzheimer’s Disease: a genetic brain disorder leading to dementia and short term memory loss, with symptoms appearing before age 65.

Edwards Syndrome (Trisomy 18): a genetic disorder occurring as a result of an additional copy of the 18th chromosome, associated with the deformity of vital organs including the heart and kidneys.

Eisenmenger Syndrome: a congenital (occurs at birth) heart defect where a hole between the left and right ventricles of the heart cause blood that has been oxygenated by the lungs to flow back into the heart rather than throughout the body. This prevents oxygenated blood, which the body needs to survive, from reaching the body’s organs. Other heart defects that can lead to this condition are: atrioventricular canal defect, atrial septal defect, cyanotic heart disease, patent ductus arteriosus, and truncus arteriosus.

Endomyocardial Fibrosis (EMF): also known as Davies’ disease a heart condition where the lower chambers of the heart experience a change in their lining ultimately changing normal cells into fibrous tissue. This can lead to left and/or right sided heart failure.

Ependymoblastoma (Child Brain Tumor): a form of brain cancer. Though rare in general, it is the second most common form of cancer in children, typically presenting in infancy.

Esophageal Cancer: cancer of the esophagus, or the tube that runs from the throat to the stomach. It is uncommon form of cancer, primarily affecting men over age 50.

F

Farber’s Disease (FD) – Infantile: a rare genetic disorder causing accumulation of fatty tissue in the joints, liver, and central nervous system. It is one of the many diseases in a group of metabolic disorders.

Fibrodysplasia Ossificans Progressiva: a rare genetic disorder of the connective tissue, which causes muscles, tendons, and ligaments to harden and affects mobility.

Friedreichs Ataxia (FRDA): a genetic disease causing progressive central nervous system presenting a variety of symptoms.

Frontotemporal Dementia (FTD), Picks Disease -Type A – Adult: form of dementia caused by shrinkage of the frontal and/or temporal anterior lobes of the brain, resulting in issues with language and/or changes in behavior.

Fukuyama Congenital Muscular Dystrophy: a rare genetic form of muscular dystrophy starting at birth with slow progression, resulting in muscle weakness and joint deformity.

G

Gallbladder Cancer: cancer of the gallbladder, or the organ just underneath the liver, which stores bile, the digestive fluid made by the liver. The condition generally presents itself with no symptoms, but is not often caught in the early stages because the location and size of the organ makes it easy for a tumor to grow unnoticed for quite some time.

Gaucher Disease (GD) – Type 2: a rare genetic disorder causing accumulation of fatty tissue in the joints, liver, and central nervous system. It is one of the many diseases in a group of metabolic disorders.

Glioblastoma Multiforme (Adult Brain Tumor): aggressive form of brain cancer where tumors grow quickly and present abnormal cells in both the brain and spinal cord.

Glutaric Acidemia Type II (Neonatal): recessive genetic disorder affecting a person’s ability to break down fats and proteins to use for energy, affecting newborns and infant children.

H

Head and Neck Cancers – with distant metastases, or inoperable, or unresectable: cancers anywhere in the head or neck that has either spread from the original site, cannot be operated on, or cannot be cut out. Cancers in this category include cancers in the: larynx, nasal cavity, salivary glands, throat, sinuses, lips, or mouth.

Heart Transplant Graft Failure: also known as primary graft failure (PGF) is a severe condition that occurs in the immediate post operative period after heart transplantation. The condition occurs when the donor heart develops severe ventricular dysfunction.

Heart Transplant Wait List 1A/1B: this condition requires a heart transplant and is categorized into two status categories: Status 1A-patient is hospitalized with a seven day life expectancy without a transplant, or the patient must require a ventilator, a device to help the heart continue pumping and/or IV drugs. Status 1B—patient is not hospitalized but does require a device to help the heart continue pumping and/or continuous IV medications.

Hemophagocytic Lymphohistiocytosis (HLH), Familial Type: a hereditary rare disease which causes the body to have too many infection fighting cells in the body, leading it to cause damage to good cells in the body, destroying the vital organs.

Hypoplastic Left Heart Syndrome (HLHS): a rare congenital (occurs at birth) heart defect where the left side of the heart is underdeveloped. This underdevelopment prevents the left side of the heart from sending enough blood through the body, which in turn, causes the ride side of the heart to work harder to make up for the lack circulation from the left side. Over time, the extra work on the right side of the heart causes it to fail.

I

Idiopathic Pulmonary Fibrosis: a lung disease caused by excess fibrous material forming in the lungs. Idiopathic suggests that the reason behind the excess fibrous growth is unknown.

Infantile Neuroaxonal Dystrophy (INAD): a developmental disorder affecting the central nervous system. Children may learn motor skills, but will experience developmental delay and eventually lose the skills they learned.

Infantile Neuronal Ceroid Lipofuscinoses: extremely rare recessive genetic disorder that causes excess fat buildup in many vital organs including the spleen and kidneys.

Inflammatory Breast Cancer (IBC): a rare form of breast cancer that presents without a lump. The breast becomes red, swollen, and inflamed because the cancer blocks the vessels in the breast. This is an aggressive form of cancer, accounting for less than 5% of all cases in the United States, and is typically diagnosed in younger women compared to other forms of breast cancer.

J

Junctional Epidermolysis Bullosa, Lethal Type: one of the more serious conditions in a group of conditions that cause the skin to blister as a response to minor injury. Blisters can occur in the mouth and make it hard to eat, which leads to malnutrition. Most people affected do not live more than one year.

K

Kidney Cancer – inoperable or unresectable: cancer of the kidney that cannot be operated on or cut out of the body.

Krabbe Disease (KD) – Infantile: a rare, most often fatal degenerative disease that attacks the myelin sheath (electrical insulator) that protects the central nervous system.

L

Large Intestine Cancer – with distant metastases or inoperable, unresectable, or recurrent: cancer of the large intestine that has either spread to another area of the body, cannot be operated on, cannot be cut out of the body, or comes back.

Late Infantile Neuronal Ceroid Lipofuscinoses: extremely rare recessive genetic disorder that causes excess fat build up in many vital organs including the spleen and kidneys that does not present symptoms until a child has reached late infantile age.

Leigh’s Disease: an extremely rare metabolic disorder affecting the central nervous system, characterized by issues with mobility.

Left Ventricular Assist Device (LVAD) Recipient: a person who has received a left ventricular assist device (LVAD). An LVAD is a mechanical device used to help circulation in a failing heart. The implantation of the device is often a precursor to heart transplantation.

Lesch-Nyhan Syndrome (LNS): a rare genetic condition caused by mutation of a gene on the X chromosome that causes a uric acid build up in all bodily fluids, which leads to issues with the kidneys, gout, poor muscle control and mental retardation.

Liver Cancer: cancer of the liver, typically caused by cirrhosis, or scarring of the liver.

M

Mantle Cell Lymphoma (MCL): a form of lymphoma cancer that resides in the “b-cells” of the lymph nodes. This rare form of lymphoma has no known cause and is more common in men than in women.

Maple Syrup Urine Disease: a genetic metabolic condition that makes it difficult for the body to break down some proteins, resulting in urine that smells like maple syrup.

Merosin Deficient Congenital Muscular Dystrophy: one of the rare genetic forms of muscular dystrophy starting at birth with slow progression, resulting in muscle weakness and joint deformity.

Metachromatic Leukodystrophy (MLD) – Late Infantile: one of the genetic disorders impairing or preventing the growth of the myelin, or the protective sheath of the nerve fibers, which leads to death within a few years in most cases.

Mitral Valve Atresia: a congenital (present at birth) heart defect where the mitral valve of the heart is underdeveloped preventing blood from the left atrium from flowing into the left ventricle. This condition is associated with hypoplastic left heart syndrome.

Mixed Dementias: a condition affecting those who suffer from both Alzheimer’s disease and vascular dementia at the same time, causing symptoms of one or both of the conditions, such as: memory issues, confusion, depression, and agitation.

MPS I, formally known as Hurler Syndrome: a genetic disorder caused by a lack of the enzyme responsible for breaking down complex carbohydrates called glycosaminoglycans, which causes them to build up in the cells and inhibits normal cell function.

MPS II, formally known as Hunter Syndrome: a genetic disorder caused by a lack of the enzyme responsible for breaking down complex carbohydrates called mucopolysaccharides, which causes them to build up in the cells and inhibits normal cell function. Typically, this condition only affects males.

MPS III, formally known as Sanfilippo Syndrome: a genetic disorder caused by a lack of the enzyme responsible for breaking down complex carbohydrates called mucopolysaccharides, which causes them to build up in the cells and inhibits normal cell function. The type a person has depends on which enzyme they lack.

Mucosal Malignant Melanoma: a rare, yet aggressive form of melanoma cancer typically developing in the head or neck, presenting in blue to black irregularly shaped lesions.

N

Neonatal Adrenoleukodystrophy: a rare genetic condition affecting the ability to produce myelin to protect the nerve cells in the body, causing a variety of symptoms including: seizures, vision problems, mental retardation, deafness, speech difficulties, adrenal dysfunction, and more. The neonatal form progresses more rapidly than adult onset of the condition.

Niemann-Pick Disease (NPD) – Type A: a rare genetic disease characterized by a lack of active enzymes that help break down fatty acids, which leads to a build up in the cells affecting most major organs including the brain, spleen, and bone marrow. Those with Type A will likely also experience jaundice and major brain damage.

Niemann-Pick Disease-Type C: a rare genetic degenerative disease characterized by a lack of enzymes that help break down cholesterol, causing a buildup in vital organs. This form is similar to Type A, but is much more severe. The condition generally leads to death at two to three years of age.

Non-Small Cell Lung Cancer – with metastases to or beyond the hilar nodes, or inoperable, unresectable, or recurrent: most common form of lung cancer that typically spreads slower than small-cell lung cancer. To qualify, it must have spread to or beyond the hilar nodes, or cannot be operated on, cannot be removed from the body, or continues to come back. (60)

O

Ornithine Transcarbamylase (OTC) Deficiency: a rare genetic disorder caused by a mutation in the ornithine transcarbamylase enzyme rendering it ineffective. This condition is the most common of urea cycle disorders. The urea cycle is responsible for taking ammonia out of the blood stream.

Osteogenesis Imperfecta (OI) – Type II: a rare condition causing fragile bones that break easily, often with no apparent cause for the break. Type II is the most severe form of the condition, generally causing death at or shortly after birth.

Ovarian Cancer – with distant metastases or inoperable or unresectable: cancer of the ovaries, or the reproductive organ in women that holds eggs, that has either spread, cannot be operated on, or cannot be removed from the body. The cause of this cancer is unknown, but it is the fifth most common cancer in women, and leads to more deaths than any other reproductive cancer in women.

P

Pancreatic Cancer: cancer of the pancreas, or the organ located behind the stomach responsible for the secretion of many enzymes that help break down fats and hormones that play a role in blood sugar control. The condition is more common in women, presents with no symptoms at first, and is most common in those who smoke or are obese.

Patau Syndrome (Trisomy 13): a genetic disorder occurring as a result of an additional copy of the 13th chromosome, causing a number of potential deformities including: extra digits, decreased muscle tone, cleft palette or lip, seizures, missing skin, and more.

Peritoneal Mesothelioma: a form of mesothelioma, or cancer caused by asbestos exposure that starts in the abdomen as the mesothelial cells create a layer of peritoneum. This type of cancer is present in 10 to 20% of all cases of mesothelioma.

Pleural Mesothelioma: the most common form of mesothelioma or cancer that develops in the mesothelium, the membrane that lines most vital organs, caused by asbestos exposure. This form of mesothelioma develops in the lining of the lungs, or the pleural membrane.

Pompe Disease – Infantile: a genetic condition that causes a complex sugar known as glycogen to build up in the body’s cells. When glycogen builds up in various organs and tissues, particularly the muscles, it inhibits their ability to function normally. The infantile version of this condition starts to display symptoms within a few months of birth and results in growth failure and failure to thrive, in addition to breathing problems. If left untreated, Pompe disease will likely cause the child to pass away at some point within the first 12 months of life.

Primary Cardiac Amyloidosis (Stiff Heart Syndrome): a heart condition where deposits of abnormal proteins take the place of healthy heart tissue making it difficult for the heart to function properly. This condition can also lead to heart blockage and arrhythmias.

Primary Progressive Aphasia: a neurological condition causing people to have linguistic issues. Individuals with this condition may experience trouble when it comes to naming items, and may wrongly use word endings, verbs, and tenses. The condition usually starts at some point before age 65 and gets worse with time.

Progressive Multifocal Leukoencephalopathy (PML): a rare disorder causing damage to the myelin or the protective covering over the nerves and white matter of the brain. The JC virus, which most people contract without symptoms by the time they reach 10 years old, is what causes PML. When the immune system is suppressed, the JC virus is more likely to cause PML.

Pulmonary Atresia: a congenital (present at birth) heart defect where the pulmonary valve of the heart is underdeveloped preventing blood from flowing to the lungs where it becomes oxygenated. Without oxygenated blood, the body cannot survive.

R

Rett (RTT) Syndrome: a central system disorder causing developmental reversals, most commonly in terms of using the hands and language.

S

Salivary Tumors: tumors on the salivary glands, which may or may not be cancerous. Salivary tumors are not common and only represent two to four percent of all head and neck neoplasms.

Sandhoff Disease: a rare genetic disorder that causes issues with fat storage and forces fat to build up in the cells of the brain and other vital organs, causing a degenerative effect on the central nervous system.

Single Ventricle: a congenital (present at birth) heart defect where the heart has only one ventricle. A normal heart has two ventricles that allow for the even circulation of blood from the heart to body. The lack of one of the necessary ventricles causes the one remaining ventricle to have an increased workload that overtime will cause that ventricle to fail.

Small Cell Cancer (of the Large Intestine, Ovary, Prostate, or Uterus): an aggressive type of cancer that rapidly grows in one or more of the organs listed.

Small Cell Lung Cancer: an aggressive form of lung cancer, less common than other types. The two types of small cell lung cancer are small cell carcinoma and combined small cell carcinoma.

Small Intestine Cancer – with distant metastases or inoperable, unresectable, or recurrent: cancer of the small intestine that has either spread to another area of the body, cannot be operated on, cannot be cut out of the body, or comes back.

Spinal Muscular Atrophy (SMA) – Types 0 and 1: a neuromuscular degenerative disease due to a missing gene. The disease causes issues with the motor neurons that lead to muscle weakness and atrophy, which can lead to death. Type 0 refers to prenatal onset, where as Type 1 refers to onset at birth and the few months after.

Spinocerebellar Ataxia: an inherited disease that is degenerative and progressive, with multiple types. Each type of the condition presents differently and could be considered a disease in and of itself.

Stomach Cancer – with distant metastases or inoperable, unresectable, or recurrent: cancer of the stomach that has either spread, cannot be operated on, cannot be removed from the body, or comes back multiple times.

Subacute Sclerosis Panencephalitis (SSPE): a deadly progressive and debilitative condition affecting the brain, caused by an abnormal response to the measles virus. Though most people who get measles recover well on their own, anyone who has a suppressed immune system is at a greater risk for this condition.

T

Tay Sachs Disease – Infantile Type: a deadly genetic disease of the central nervous system, caused by a mutation on the 15th chromosome. Infantile type refers to onset before birth, which causes symptoms to show at around three to four months of age. Symptoms include: blindness, deafness, decreased muscle tone, seizures and dementia.

Thanatophoric Dysplasia, Type 1: a severe skeletal condition causing short limbs, additional skin folds on the arms and legs, underdeveloped lungs, and short ribs, among other signs and symptoms. Type 1 is differentiated by having curved thigh bones and flattened bones in the spine.

Thyroid Cancer: cancer of the thyroid gland, or the gland responsible for secreting hormones that help regulate the metabolism. There are four different types of thyroid cancer: anaplastic, medullary papillary, and follicular. This type of cancer is three times more common in women than in men.

Tricuspid Atresia: a congenital (present at birth) heart defect where the tricuspid valve of the heart is missing or undeveloped preventing blood from flowing to the lungs where it becomes oxygenated. Without oxygenated blood, the body cannot survive.

U

Ullrich Congenital Muscular Dystrophy: a form of muscular dystrophy primarily affecting the skeletal muscles, responsible for effective movement. The muscles are so weak walking without assistance is not possible for most. Individuals suffering from this condition may also suffer from contractures and joint stiffness that inhibits mobility.

Ureter Cancer – with distant metastases or inoperable, unresectable or recurrent: cancer of the ureter, or the small muscular tube responsible for moving urine from the kidneys to the bladder, that has either spread, cannot be operated on, cannot be cut from the body, or comes back more than once.

W

Walker Warburg Syndrome: a rare form of congenital muscular dystrophy responsible for brain and eye abnormalities.

Wolman Disease: a rare condition which inhibits the breakdown of fats and cholesterol in the body producing a buildup of these chemicals in the major organs including: kidneys, spleen, liver and small intestine. Individuals with this condition may also see calcium deposits on the organs.

Z

Zellweger Syndrome: a rare congenital condition caused by a lack of microbodies present in the cells. Patients with this condition typically do not survive more than one year.