Today, February 29th (the rarest day of the year), is Rare Disease Day! This is a day to raise awareness and support those living with rare diseases and their families worldwide. A rare disease is classified by the National Organization for Rare Disorders (NORD) as any disease with less than 200,000 Americans affected. Over 300 million people have a rare disease worldwide, making up 3.5-5.9% of the population. These individuals face unique challenges that come with having a rare disease and often struggle to have wide-spread, accessible health care tailored for their needs. Of the 300 million people affected by rare disease, 72% of the conditions are genetic diseases.
Volunteers and organizations all around the globe join together to raise awareness for and support those with rare disease on this day. Today, the USC Genetic Counseling Program partnered with Child Life specialists (including special guest, service dog Mirabel!) at Prisma Health Children’s Hospital-Midlands to engage with patients and create colorful masks and zebra coloring page drawings with the children. We had so much fun meeting all of them and creating these crafts together!
Our students each chose one rare disease to research and highlight, with facts and community organizations for each listed below:
Sanfilippo Syndrome
Sanfilippo syndrome is a rare genetic condition that causes damage to the cells of the body particularly in the brain and spine which causes fatal brain damage. Sanfilippo is commonly described as “childhood dementia or Alzheimer’s.” There are many organizations that support Sanfilippo including Cure Sanfilippo Foundation.
De Barsy Syndrome
De Barsy Syndrome is a condition that affects connective tissue. It is characterized by loose, wrinkled skin that gives someone the appearance of being older. Other possible features are developmental delay, learning disability, short stature, and visible veins. Cutis Laxa Internationale is a support group that promotes research, raises funds, and connects patients with De Barsy Syndrome and other related diseases.
Alport Syndrome
Alport Syndrome is a rare genetic condition that affects collagen, specifically in the eyes, ears, and kidneys which leads to kidney disease, hearing loss, and eye abnormalities. There are many great organizations where patients and families can receive support and resources like the Alport Syndrome Foundation.
Werner Syndrome
Werner syndrome is a progressive condition where individuals experience accelerated aging. It is characterized by hair loss, muscle atrophy, skin changes, and early cataracts. Patients are also at risk for diabetes, hormone imbalances, arteriosclerosis, and developing certain benign or malignant tumors. There are many resources for patients and families to receive support, such as the Progeria Research Foundation and the National Institute on Aging.
Stargardt Disease
Stargardt Disease is a slowly progressive condition of the retina’s macula, causing vision loss, and is the most common hereditary form of macular dystrophy in both children and adults. There are several support organizations for those with Stargardt Disease including the Macular Degeneration Organization and Foundation Fighting Blindness.
Pitt Hopkins Syndrome
This rare condition is associated with intellectual disability, developmental delay, speech delay, epilepsy (recurrent seizures), breathing problems, and facial feature differences. It is believed that Peter the Wild Boy who lived in Kensington Palace in 1725 and was the inspiration for Peter Pan had Pitt Hopkins Syndrome.
Danon Disease
Danon Disease is a lysosomal storage disorder. Individuals with Danon Disease have cardiomyopathy, myopathy, and intellectual disability. The Danon Foundation provides information, resources, and support for those diagnosed with Danon Disease.
Hermansky Pudlak Syndrome
Hermansky Pudlak Syndrome is a rare genetic condition characterized by oculocutaneous albinism, which causes abnormally light coloring of the skin, hair, and eyes. Other features of this syndrome are issues with vision and blood clotting, pulmonary fibrosis, and issues with the large intestine and kidneys. There are multiple resources available for patients and families, such as the Hermansky-Pudlak Syndrome Network.
Perrault Syndrome
Perrault Syndrome is a rare genetic disorder that only impacts around 100 people worldwide. Individuals with Perrault Syndrome may experience sensorineural hearing loss that presents in early childhood or at birth, and females with the syndrome may experience fertility issues characterized by streak gonads and early menopause. Those affected may find support with the National Association of the Deaf or RESOLVE: The National Infertility Association.
Tuberous Sclerosis Complex
Tuberous Sclerosis is a rare genetic condition that impacts around 50,000 individuals in the United States and is caused by a change in either the TSC1 or TSC2 gene. Individuals with Tuberous Sclerosis develop numerous benign tumors on the heart, brain, lungs, kidneys, and other parts of the body. Neurological symptoms such as seizures, autism spectrum disorder, and intellectual disability may also occur. Symptoms can appear at any point in a person’s life and affected women are at risk for chronic respiratory problems. Tuberous Sclerosis Alliance is an organization that provides resources and support for those affected and their families.
Canavan Disease
Canavan Disease is a rare neurological genetic condition characterized by white matter degeneration. Symptoms include feeding problems, poor muscle tone, seizures, loss of vision, and severe intellectual disability. The prognosis for Canavan Disease is poor, usually resulting in death before age 10. The Canavan Foundation is an organization that supports research for Canavan Disease and also provides support to families and affected individuals.
Aarskog Syndrome
Aarskog Syndrome (or Aarskog-Scott Syndrome) is a genetic condition that affects the development of many parts of the body, including the head and face, hands and feet, and the genitourinary system. It is caused by mutations in the FGD1 gene found on the X chromosome. Because it is X-linked, this syndrome mainly affects males. Some females may present with mild features of the syndrome. The intellectual development of those with Aarskog Syndrome varies widely, from normal intelligence to severe intellectual disability in rare cases. The Aarskog Foundation provides resources and education for individuals affected by Aarskog Syndrome and their families.
Sotos Syndrome
Sotos Syndrome is a rare genetic disorder that is characterized by excessive growth before and after birth, a large and elongated head, distinctive facial configuration, mild intellectual disability, and advanced bone age. Sotos Syndrome Support Association (SSSA) is an organization created by volunteers that are family and friends of those affected by Sotos or similar syndromes. Their mission is to create a social support environment for professionals and families of individuals affected by Sotos.
Acute Intermittent Porphyria
Acute Intermittent Porphyria, or AIP, is a rare metabolic disorder that causes attacks of abdominal pain, nausea, vomiting, and seizures. Inheriting a variant in the HMBS gene predisposes an individual to display symptoms. To display symptoms, an individual must encounter environmental risk factors such as hormonal changes in puberty, prescribed or recreational drugs, excess alcohol consumption, infection, or diet changes like fasting. The American Porphyria Foundation is an organization that helps families and individuals affected by AIP connect with resources and health care providers.
Gaucher Disease
Gaucher Disease is a rare, metabolic disorder that is characterized by an array of clinical features that include an enlarged liver and spleen, anemia, thrombocytopenia, easy bleeding and bruising, and fatigue. Patients and their families can find support with the Gaucher Community Alliance, which offers informational webinars, patient stories, and ways to get involved in advocacy.
Ring Chromosome 22
Ring Chromosome 22 is a rare genetic condition resulting when one chromosome 22 forms a ring structure due to the loss (deletion) of genetic material from both the short arm and long arm of one chromosome 22. The size of this deletion varies. Clinical features include developmental delay, poor muscle tone (hypotonia), severe speech delay, and minor physical features such as large ears and a bulbous nose. This type of chromosome abnormality is typically “de novo,” meaning it is brand new in the child and not something inherited from a parent. Individuals with this condition have a risk of developing a condition called Neurofibromatosis Type 2 (NF2), which is a neurological disorder where tumors develop on nerve tissues. A group founded in 1996 called Chromosome 22 Central provides support for all disorders of chromosome 22. They value compassion, connection, and community.
Through Our Eyes: Experiences from Genetic Counseling Students at the University of South Carolina 