Hartford, Conn. (WTIC News) _ March is Cerebral Palsy Awareness Month. Dr. Paul Kruszka is Chief Medical Officer at GeneDx, a commercial laboratory specializing in genetic testing, headquartered in Stamford.
"Every year about 10,000 children are diagnosed with Cerebral Palsy and a large fraction of these children who are diagnosed have genetic causes and deserve a genetic test to figure out what the diagnosis is," he said.
Dr. Kruszka explains that while a rare disease is a condition that affects fewer than 200,000 people, there are over 10,000 rare diseases diagnosed in the U.S. with 1 in 10 people affected by a rare disease; that adds up to 30 million Americans.
They can be things like epilepsy, autism, and development disorder. GeneDx is working toward making exome and genome testing a standard of care.
"Precise genetic diagnosis not only brings clarity for families but also relieves the guilt that parents often feel when they have a child with a rare disease," explains Dr. Kruszka.
Currently, Connecticut is one of just 14 states that allows Medicaid to cover these types of testing within a neo-natal intensive care unit (NICU). Recently, an event was held at the Connecticut Capitol in recognition of Rare Disease Awareness Day. It is always held the final day of February (the 28th or 29th), the rarest day of the year. Members from GeneDx along with other key stakeholders were in attendance.