Mission

Congenital heart disease (CHD) is one of the most frequently diagnosed congenital disorders afflicting ~1% (or about 40,000) births per year in the U.S. One type of complex CHD is Transposition of the Great Arteries (TGA), which is a serious, rare complex heart problem where the two main arteries leaving the heart are transposed (reversed).  1,153 babies are born with TGA each year in the United States, which means that every 1 in 3,413 babies born in the U.S. is affected by TGA.  Elliott’s complex CHD was extremely rare as she was diagnosed with double transposition; TGA and transposition of the atrial chambers.  She also had Double Outlet Right Ventricle (DORV) and pulmonary atresia. If TGA goes uncorrected, 50% of patients will die within the first few months, and 90% will die within the first year. Elliott's TGA went uncorrected for over 3 years, defying the odds of survival (again).

Rare cancers are those that affect fewer than 40,000 people per year in the U.S. (less than 6 in 100,000 people).  As a group, they make up ~25% of all cancers diagnosed each year. Because rates of cancer in children are very low, all pediatric cancers are considered rare. In addition, ~25% of all cancer deaths each year are due to rare cancers. Elliott's tumor was a Paraganglioma, which is a rare neuroendocrine tumor that secretes catecholamines, including adrenalin. ~2 out of every 1 million people will be diagnosed with a paraganglioma. Most paragangliomas have no known cause, but up to 35% are hereditary caused by gene mutations that are passed from parents to children. It's also important to note that Paragangliomas are typically found in adults between the ages of 30-50 years,  which makes Elliott’s paraganglioma extremely rare (in Children).

There are approximately 7,000 rare diseases affecting 25-30 million people  in the U.S. This equates to 1 in 10 Americans with a rare genetic disease.  Elliott's younger sister, Sutherland, has a rare neurogenetic disorder caused by a stop codon mutation in the SLC6A1 gene, which is responsible for encoding the GAT-1 protein (gamma-aminobutyric acid).  SLC6A1 is an autosomal dominant genetic disorder characterized by the loss-of-function of one copy of the human SLC6A1 gene.  The incidence of SLC6A1-related disorders is estimated to be 2.65 per 100,000 births, resulting in a wide range of neurologic conditions and neurodevelopment disorders such a epilepsy, schizophrenia, mild to severe intellectual disabilities, autism spectrum disorders,  anxiety disorders, language disorders, including no speech. Elliott's sister is severely intellectually disabled, cannot speak, and suffers daily from absent seizures.