Convaid joins Rare Disease Day Organization and others in bringing awareness of Rare Diseases, which are defined as a disease or disorder that affects fewer than 200,000 Americans at any given time, or, in Europe fewer than 1 in 2000 people.
On February 29, 2016, Convaid will share the story of Andrew and his family, who thrive in spite of Cornelia de Lange Syndrome (CdLS), a rare disease that affects 1 in 10,000 people and 1 in 30,000 live births.
Andrew’s grandmother Dawn and mom Keeley will share their real life story of raising a child with CdLS in the context of an otherwise typical family environment. They use a Convaid Cruiser to include Andrew in family outings, community events and in a school setting.
According to Rare Disease Day Organization, “Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.”
There are over 6,000 rare diseases that are known to medicine today. In the United States, we cap the number at 200,000, to qualify as a rare disease, however, in the European Union, as many as 30 million people may be affected by Rare Diseases.
The site claims that 80% of rare diseases have identified genetic origins while others are the result of bacterial or viral infections, allergies, environmental causes, or are degenerative and proliferative. Half of rare diseases touch children, adding that the fact that there are often no existing effective cures adds to the high level of pain and suffering.
Rare Disease awareness proponents suggest that the lack of scientific knowledge often leads to a delay in diagnoses, and inequality of medical access often results inadequate care, placing a heavy social and financial burden on Rare Disease sufferers and their families.
In the case of CdLS, it is present from birth and comes from three rogue genes, typically a rare and random mutation.
Common characteristics include low birth weight, delayed growth and small stature, and small head size. Typical facial features include thin eyebrows which frequently meet at mid-line, long eyelashes, short upturned nose and thin, down-turned lips.
Other frequent findings include excessive body hair, small hands and feet, partial joining of the second and third toes, inward curving fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.
Children with CdLS tend to develop slowly, with delayed speech and communication.
Check back with the Convaid Blog for Andrew’s story on Rare Diseases Day, Monday, February 29th!