George Fox loved growing up in Florida. When he and his high school sweetheart got married and settled down in the Florida Keys, they looked forward to a dream life. After their son Phoenix was born, George beamed when the doctor remarked on how strong his baby appeared. George and his wife took their precious child home, excited to begin a new life as a family.
Within weeks, however, little Phoenix began showing symptoms of a life-threatening heart abnormality. After months of extensive tests, doctors discovered that Phoenix’s heart issues were symptomatic of a more insidious problem. He was diagnosed with Pompe disease, an incurable muscle-wasting condition that can cause heart weakness and, if left untreated, can result in death. One in 28,000 Americans suffer from Pompe.
Thankfully, a treatment was available that halted further progression of the baby’s devastating disease. Without this treatment, Phoenix would not have survived his first year; however, that treatment could not turn back the clock and undo the damage already done to Phoenix’s tiny body. If only there could be a simple test that could diagnose babies like Phoenix immediately after birth and would allow doctors to provide treatment at the first symptom to mitigate progression of the disease.
Such a test is not science fiction. It exists.
Screening programs save lives
For more than 50 years, every newborn in the U.S. can be screened for a range of debilitating and deadly diseases through a dried blood spot taken by a heel-prick. Of the 4 million babies born in the U.S. each year, one in 300 are found to have a potentially devastating condition through this testing. Newborn screening is the most successful public health program in the history of our country.
A bill currently before Congress, the Newborn Screening Saves Lives Reauthorization Act, or S. 2158, would continue to provide assistance to states in order to improve and expand newborn screening programs, thus preventing families from suffering avoidable tragedy. Earlier this year, the House version of the bill (H.R. 2507) was passed, but the bill is still awaiting action by the Senate.
Time is running out
The original bill, passed in 2008, is set to expire on September 30, 2019, jeopardizing implementation of newborn screening for diseases that now have treatments, like Pompe.
Three years after Phoenix was born, science answered the challenge, and newborn screening was made available for Pompe; however, only 20 states in the U.S. screen for the disease. If S. 2158 does not pass, other states may not be able to implement testing for Pompe and other newly-detectable diseases.
Phoenix is now 16 years old. True to his name, he has risen from the ashes, coping with a disease that has robbed him of his childhood and made him dependent on a feeding tube, ventilator, wheelchair, and hospital lift for the rest of his life. How many more of America’s children will face the same fate, if S. 2158 is not passed?
In honor of Phoenix, his family, and the 30 million other Americans living with a rare disease like Pompe, please go to RareScreening.org to contact your Senators and ask them to co-sponsor and support S.2158.