One of the most successful healthcare services benefiting the public is newborn screening. Unfortunately, this life-saving health initiative is not provided for all rare diseases in some U.S. states.
As reported by the NIH, a study of insurance and medical records indicates that healthcare costs for individuals with rare diseases are three to five times higher than those of people without rare diseases.
This article presents a brief history of babies with and without undiagnosed disorders who would have benefited from early newborn screening.
Vaun’s Story
Vaun is now 31. That, in itself, may not seem remarkable, but as his mother explained to the publication Rare Disease Advisor, without the help of newborn screening, Vaun would not have survived his first year.
Vaun’s mother, Paloma Juarez, lives in Kansas City, but fortunately, her doctor only delivered at the Missouri hospital. In May 2016, in addition to the Missouri hospital, only five other states were screening newborns for Pompe disease. Currently, 44 states are conducting screening for the disease, which translates to 87% of all births in the US.
Within hours after Paloma arrived home from the hospital with Vaun, she received a phone call informing her that her baby had been flagged during screening. An appointment was set up for additional cardiology and genetic testing the following Monday.
Doctors discovered that Vaun’s heart was enlarged, and his creatine levels were elevated. A diagnosis of Pompe disease followed, but Paloma was already pregnant with twins, Xavier and Koen. Although Vaun had been receiving enzyme replacement therapy (ERT) that saved his life, a replacement heart was not available for one year.
Now that she was alerted to the possibility of her twins having Pompe disease, Paloma scheduled an amniocentesis in the latter part of her pregnancy. DNA showed that one of the twins, Koen, carried the same mutation as his brother Vaun. However, the fraternal twin, Zavier, was not affected and did not carry the same mutation.
The twins were born in August of 2020. Koen began ERT three days after his birth. Paloma has become a devoted advocate for newborn screening.
Delayed Diagnosis in Rare Diseases
A new study was released by the EveryLife Foundation in September 2023 to coincide with Newborn Screening Month. The report disclosed that rare disease patients may spend an average of six years and make 17 clinic visits before receiving an accurate diagnosis.
Annie Kennedy, Chief of Policy at the Foundation, participated in the study along with 1400 patients and caregivers. She reported that approximately 60% of the cost of delayed diagnosis is shouldered by patients and families.
According to Kennedy, the costs incurred by families are avoidable because technology exists to shorten unnecessary delays and prevent disease progression.
Another voice in support of newborn screening came from the president of the Parent Project Muscular Dystrophy. The organization has been trying to expand the screening based on the FDA’s recent approval of a gene therapy to treat muscular dystrophy.
Dr. Amy Brower relates her story of advocating for her son Joey, who has severe combined immunodeficiency (SCID). Dr. Brower is a medical geneticist at the University of Nebraska Medical Center in Omaha. The odds of acquiring SCID (being born without an immune system) are one in 56,000 births.
Dr. Brower explains that a baby born without an immune system would die within a year after birth. Joey is now 31 years old, and Dr. Brower explains that her medical background helped diagnose and treat his disorder when he was five months old. In Joey’s case, there was a one-year wait for a stem cell transplant.
Dr. Brower further commented that getting into treatment is often accompanied by significant costs and very serious consequences. These statistics are echoed by the NIH as well. It has been proven that an early diagnosis results in an improved outcome.
Using Pompe disease as an example, an average of $219,000 is spent on medical expenses each year a diagnosis is delayed.
For every minute a child is not receiving treatment, that child is losing muscle function that can no longer be restored.
