Super Gav is hero for life-saving new newborn screening


The Minnesota Department of Health (MDH) announced it has added three disorders – Mucopolysaccaridosis Type 1 (MPS-1), Pompe Disease and X-linked Adrenoleukodystrophy (X-ALD) – to its list of conditions for which all newborns in the state are screened.

The goal of newborn screening is to extend and improve the lives of children born with serious but treatable disorders. Without screening, children with these disorders are often diagnosed too late to benefit from treatment. These disorders were added after being recommended at the national level and by Minnesota’s advisory committee. Minnesota Commissioner of Health Dr. Ed Ehlinger approved the additions in April 2016. By adding these three conditions, Minnesota will now screen newborns for 60 conditions – including all those on the U.S. Secretary of Health and Human Services’ recommended screening panel – making it one of the most comprehensive newborn screening programs in the country.

Until now, children with any of these three rare, inherited disorders faced lives of significant disability or early death. Based on preliminary data from two states already screening for these disorders, Missouri and New York, health officials expect around 5-15 Minnesota children to benefit from this screening each year. Screening for the conditions is expected to begin in January 2017. The Commissioner of Health may add new conditions for screening under Minnesota Statutes, section 144.125, subdivision 2, but is required to seek legislative approval for any associated fee increases. No fee increases are required for the program at this time.

“The names of these conditions may be hard to pronounce, but their impact on Minnesota’s newborns and their families is clear,” said Assistant Commissioner Allwood. “By adding these disorders to the newborn screening panel, we will be able to diagnose and begin treating these disorders much earlier, leading to much better outcomes for Minnesota’s newborns.”

The announcement of the screening additions was made at a news conference in Winona that included MDH Assistant Commissioner Allwood; state Sen. Jeremy Miller; state Rep. Gene Pelowski; Dr. Sarah Lallaman, Winona Health pediatrician and medical chief for primary care and wellness services; and the family of Gavin Quimby, a Minnesota child who died in September 2015 of metachromatic leukodystrophy (MLD).
“Today we celebrate the culmination of years of tireless work by Shanna and Nick Quimby, the Hunter’s Hope Foundation, the Minnesota Department of Health (MDH), and many others interested in expanding Minnesota’s newborn screening list,” said Sen. Miller. “I was honored to join this fight two years ago by introducing the Super Gav Act. Gavin Quimby was one of the bravest individuals I’ve ever met. The courage he showed while fighting MLD continues to be an inspiration. Although he is no longer with us, his memory will live on in every child in Minnesota who receives successful treatment for one of these terrible diseases thanks to their addition to Minnesota’s newborn screening panel.”

Although MLD is not being added to the list at this time, newborn screening for MLD continues to be explored and advancements are being made that might someday allow it to be added to routine newborn screening. “MDH is grateful to Sen. Jeremy Miller and the Quimby family for their strong support of adding the other disorders to the panel,” Allwood said.

“Nick and I are very excited about these three disorders from the Super Gav Act being added to Minnesota’s newborn screening panel,” said Shanna Quimby. “We are looking forward to seeing babies receive successful treatment as a result of being diagnosed as early as possible. While we are thrilled with the progress that has been made so far, we will continue to passionately pursue MLD research in honor of our son Gavin’s memory.”

Each of the disorders is caused by an inherited genetic mutation. Symptoms can include bone abnormalities, muscle weakness, nerve impairment and hearing loss, respiratory failure and heart failure. If left untreated, children can die. However, if the condition is detected through newborn screening and treated, the children’s outcomes are significantly improved.

Since 1965, when Minnesota started screening for PKU (phenylketonuria), all Minnesota newborns have had the opportunity to have newborn screening. Shortly after birth, a few drops of blood are collected from the baby and sent to the MDH Public Health Laboratory for testing. If the screening indicates the infant may have one of the disorders on the list, MDH contacts the baby’s primary health care provider for follow-up testing and consultation.

More information about newborn screening and the disorders being screened is available on the Newborn Screening Program website.


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