Rare Disease Day: Handprints across America

For Rare Disease Day, Feb. 28, organizations around the world are gearing up to raise awareness for the public and policy-makers to research debilitating disorders and diseases that don't get as much national attention as more common ailments.

In the United States, a rare disease is defined as one that affects fewer than 200,000 Americans. There are more than 7,000 rare diseases in the country in the U.S., affecting 30 million people. Two-thirds of patients with rare diseases are children.

"Everyone knows someone with a rare disease," says Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD). "While many of these diseases are serious and lifelong, most have no treatment and many are not being studied by researchers."

From NORD, keep clicking to meet some amazing Americans raising awareness as part of the Handprints Across America for Rare Disease Day 2013...

Anderson-brothers-RareDiseaseDay-photo-e1330456812207.jpg — National Organization for Rare Disorders

Lloyd, Cody, and Henry are three brothers living in Maine with Pelizaeus-Merzbacher disease. Pelizaeus-Merzbacher disease is an inherited genetic disorder caused by an inability to form myelin, a protective covering on nerve cells that's crucial for transmitting nerve signals. Coordination, motor abilities, and intellectual function deteriorate because of the progressive disorder. An estimated 1 in 2000,000 to 500,000 males in the U.S. have the disease; it rarely affects females, according to the NIH. There is no cure or treatment.

64710_359967097370897_100000728285322_1175733_1899805529_n.jpg — National Organization for Rare Disorders

Henry is raising awareness for MPS IIIA, a metabolic disease that's part of a group of conditions called mucopolysaccharidoses. Known as Sanfilippo syndrome, MPS IIIA is marked by severe neurological symptoms, which may include progressive dementia, aggressive behavior, hyperactivity, seizures, deafness and loss of vision. As the disease progresses, children become increasingly unsteady on their feet and most are unable to walk by age 10. MPS IIIA is caused by the missing or altered enzymes than cannot break down molecules that help build bone, cartilage, tendons, skin, corneas and connective tissue. About one in every 25,000 babies born in the U.S. will have some form of the mucopolysaccharidoses.

National Organization for Rare Disorders

Brittany in Virginia was diagnosed with NBIA in Feb. 2006. Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system, according to the NIH. Most patients experience periods of rapid deterioration lasting one to two months, with relatively stable periods in between. Symptoms usually develop during childhood and may include slow writhing, involuntary, jerky muscle spasms, seizures and dementia. The disease cannot be treated or cured, but supportive treatments like occupational or physical therapy or speech pathology can help. The disease affects an estimated one to three out of 1,000,000 people, according to Orphanet.

Jack lives in California and raises awareness for mastocytosis. Mastocytosis is a disease that can cause brownish skin lesions and intense itching. It is caused by the presence of too many mast cells in the body. Rubbing or scratching the skin could lead to hives or blisters. Other symptoms may include pain, abdominal discomfort, nausea, vomiting, and ulcers, according to the National Institute of Allergy and Infectious Diseases. It can also cause anaphylaxis (shock) in some cases. Antihistamines can relieve itching and other symptoms, while a doctor may prescribe other treatments like steroids or epinephrine depending on severity.

Sam has FPIES, Food Protein Induced Enterocolitis Syndrome. This severe type of food allergy can cause vomiting, diarrhea, dehydration, lethargy and changes in body temperature and blood pressure following eating a food trigger, according to the FPIES Foundation. In some cases, sepsis-like shock may occur. The reactions are sometimes triggered by milk, soy, rice and oats. Unlike classic food allergies, FPIES cannot be diagnosed with a skin prick or blood test, and diagnosis is often made based off of medical history, according to the foundation.

Raising awareness in Midlands, South Carolina are Palmetto PHriends Pulmonary Hypertension patients, families, friends: Wendy Steen, Teresa Layton, Gidget Douglas, Pam Carver, and Donna Johnson. Pulmonary hypertension leads to abnormally high blood pressure in the lung's arteries, which causes the right side -- which pumps blood through the lungs -- to work harder than normal. It can lead to heart failure. It usually occurs in women between the ages of 20 and 50. There is no known cure for pulmonary hypertension, according to the NIH, but medications can control symptoms and prevent more lung damage.

Abby in Washington is raising awareness for Lymphangioma. This rare growth of the head and neck area forms inside the womb. A cyst may not form at birth but typically grows as a child gets older. Surgery can remove the lymphangioma but it may be possible to remove all the tissue, or else it may return, according to the NIH.

Braeden supports West Syndrome and 1p36 Deletion Syndrome. West syndrome is characterized by seizures in infancy and childhood, typically between ages 4 to 8 months. The syndrome can be caused by birth injury, genetic or metabolic disorders, or have no underlying cause at all, according to the NIH. 1p36 deletion syndrome often causes severe intellectual disability, rendering most affected individuals unable to speak. Seizures occur in more than half of people with this disorder. 1p36 is estimated to affect between 1 in 5,000 and 1 in 10,000 newborns, according to the NIH. It is caused by the deletion of genetic material from a short arm of the first chromosome. Treatments may include antiepileptic drugs and rehabilitation for speech/hearing problems.

Brayden, 4 months old, from Ohio has ABCA-3 Surfactant Deficiency. The severe, rare respiratory disease is caused by a genetic mutation in the ABCA-3 gene. This gene is involved in the production of surfactant, a mixture of certain fats and proteins that line the lungs' tissue to aid breathing. The lungs then fill with air on each breath, making breathing difficult and impairing oxygen delivery throughout the body. Some children with the disease may require a lung transplant.

Gabriella at Child Life Therapy raising is awareness for Hypophosphatemic Rickets. Affecting 1 in 20,000 newborns, hypophosphatemic rickets is a genetic disease that can cause varying symptoms like slow growth, bone abnormalities that cause pain, bowed legs or knock knees, according to the NIH. The disease is characterized by low levels of phosphate in the blood, which is a mineral essential for bone and teeth function.

Mike in New Jersey is raising awareness for Pompe Disease. A rare disease that affects 1 in every 40,000 births, Pompe can be fatal because it disables the heart and skeletal muscles. The inherited disease is caused by mutations in a gene that makes an enzyme that breaks down a certain form of stored sugars used for energy, glycogen. Symptoms can begin in the first month of life, with feeding problems, muscle weakness and head lag or can onset in childhood or adult years depending on how deficient the enzyme is. There are two approved drugs available to treat the disease and enzyme replacement therapy is being tested in trials, according to the NIH.

Xavier has Schinzel-Giedion syndrome. This very rare syndrome appears at birth, and may present as distinctive facial features, neurological problems and organ and bone abnormalities. In most affected individuals, the middle of the face looks as though it has been drawn inward, according to the NIH. Neurological signs can include feeding problems, seizures, impaired vision or hearing. The condition can also cause defects in organs like the heart and kidneys. The exact prevalence of Schinzel-Giedion is unknown.

Matthew supporting his little sister Lauren in raising awareness for Greig's Syndrome. The disorder, which can range from very mild to severe, affects development of the limbs, head and face. Unknown in its prevalence, the condition is caused by mutations in the GL13 gene, which provides instructions for making a protein responsible for the normal shaping of organs and tissues before birth. People with the condition may have one or more extra fingers or toes, an abnormally wide thumb or big toe, widely spaced eyes and in rare cases, more serious medical problems like seizures and intellectual disability.

Gabby in North Carolina is 10.5 years old and was born with a rare chromosome duplication called trisomy 14 mosaic. This disorder is caused by three copies of the 14th chromosome (typically there are two copies), which can affect growth within the womb and during childhood. Children with trisomy 14 mosaic may be smaller than others in their age group. Some kids may grow into healthy, if small, children, according to the NIH. Others may experience developmental delays, heart defects and other abnormalities.

Brigid in Pennsylvania is raising awareness for Langerhans cell histiocytosis. Langerhans cells typically help regulate the immune system, but with this disease, excess immature cells form tumors in the bones, which can lead to pain and swelling or fractures. In rarer cases, the disease can affect the lungs and liver.

The disease typically is diagnosed in childhood between the ages of two or three, but can appear at any age, according to NIH. An estimated one to two in 100,000 people have the disease.