The pain of losing a child to a genetic disorder is familiar to Milan and Elena Villarreal.
Josephine, their first child, was identified as having spinal muscular atrophy type 1 when she was only six months old.
Significant developmental delays are brought on by the disorder’s gradual, severe muscular tone and weakening.
Untreated youngsters frequently pass away before turning two. Nine months after that, Josephine passed away.
The Villarreals have experienced the delight of witnessing a kid succeed.
They discovered Evelyn, their second child, might also have SMA in 2014 after learning they were carriers of the faulty SMN1 gene.
A blood test conducted when Evelyn was only a few weeks old confirmed their worst suspicions.
were previously aware of how SMA affects a baby’s capacity for sitting, walking, swallowing, and breathing.
Milan Villarreal claims, “We knew what we were dealing with. “Evelyn had a sister who passed away from SMA, which is the only reason we were aware to test her.
Nobody ought to experience that. In addition to saving their lives, newborn screening can also improve their mobility.
Milan discovered a clinical study in Ohio that would offer gene therapy treatment to restore a necessary protein for sustaining normal muscular function while conducting an urgent online search for research and treatment options for Evelyn.
“Evelyn was born at the ideal moment and location. Elena, her mother, adds, “We were able to acquire this treatment early.
The Villarreal family has praised Evelyn on each accomplishment. She was the first infant in the clinical experiment to be able to turn over, which was a significant development.
“We wanted to surprise the physicians, so we didn’t notify them before our check-up. Elena recounts, “Our neurologist simply started crying. “Evelyn was the first to start walking as she moved forward.
Everything was incredibly fantastic. Just so much hope was given.
Evelyn, who is now 7 years old, attends school, likes science and art, creates artwork, writes stories, walks quickly, swims, and flies kites.
She particularly enjoys playing with Mila, her 2-year-old younger sister, who is a carrier of the faulty SMN1 gene but does not have SMA.
The Villarreal family claims that they are strongly in favor of newborn screening since it can assist kids in receiving therapy as soon as possible, which is essential for SMA.
Early Detection Is Crucial
In the United States, it is currently advised to screen newborns for SMA type I as part of standard public health newborn screening programs.
SMA affects one in 10,000 infants at birth. Early diagnosis is essential for both survival and enhancing a patient’s quality of life.
Accurate testing enables immediate care and treatment, saving neonates from lifelong illnesses or an early demise.
Through its Newborn Screening Quality Assurance Program, the Division of Laboratory Sciences in the National Center for Environmental Health of the CDC contributes significantly to newborn screening.
The initiative offers states one-on-one technical assistance, training, advice, competency testing, quality assurance tools, and support for their laboratories.
In order to improve and maintain the quality and accuracy of newborn screening test findings for certain genetic, metabolic, and endocrine abnormalities in all 50 states and around the world, CDC has the only laboratory in the world.
Every state conducts newborn screenings for a variety of significant but curable congenital conditions.
These include endocrine disorders, several inborn metabolic abnormalities, and lysosomal storage diseases, in addition to SMA, cystic fibrosis, and sickle cell disease.
Baby diagnoses and treatments can be started straight away thanks to early and reliable testing.
What It Does
A few drops of blood are drawn from the heels of newborn babies, samples are blotted onto special filter paper, and then sent to state laboratories for screening for severe illnesses.
The initiative is supported by the Newborn Screening and Molecular Biology Branch of the Division of Laboratory Sciences of the CDC.
To mimic the sample types that newborn screening facilities evaluate, the CDC makes dried blood spots. These sample areas are used by laboratories to ensure the accuracy of their testing.
The Newborn Screening Quality Assurance Program of the CDC is run by Joanne Mei, who states that “we make roughly a million dried blood spots per year.”
The preparation of the filter paper cards is the first step in this task, which begins in the morning.
The blood is detected on the cards by a robot after we place them on a rack.
Depending on whatever prenatal screening illness we’re attempting to mimic, we either add various biochemical indicators or incorporate cells from patient samples with certain molecular markers.
These materials, often referred to as dried blood spot quality assurance samples, are used by newborn screening facilities all over the world as an independent review of their work.
The samples assist them in locating the genetic or biochemical markers linked to newborn screening abnormalities.
It is impossible to get the supplies needed to create dried blood spots for quality control in a condition that uses molecular testing.
These tests seek for DNA, and the blood of donor patients with the condition serves as the source.
A Resourceful Response
The Sequoia Foundation and the California Department of Public Health collaborated with the Molecular Quality Improvement Program (MQIP), a division of the CDC’s Newborn Screening and Molecular Biology Branch, to find patients and family members with rare diseases like SMA and collect blood samples from them.
MQIP developed a method for mass-producing cells that were first obtained from patient blood. These patient cells are infected by researchers with the Epstein-Barr virus, which enables unrestricted cell growth.
Now that the CDC has a trustworthy source, it is possible to produce huge quantities of dried blood spots with the precise DNA mutations that cause sickness.
In order to test this new sample type for use in newborn screening labs to find SMA, severe combined immunodeficiency, and cystic fibrosis, the CDC successfully piloted it in 2020 and 2021.
The CDC has now distributed this kind of dried blood spot material to all states and numerous international programs screening for SMA and severe combined immunodeficiency proficiency testing.
The samples might also be used by laboratories to create or validate brand-new screening exams. More babies can now gain from this. Everything revolves around the infants, and the labs that help them by preserving and advancing better lives.