At birth, Minette looked perfectly healthy, and her parents took their 7 pound, 9- ounce, brown-eyed baby girl home thinking all was well.
But her newborn screening test revealed something different.
The results indicated Minette had a rare lysosomal storage disease known as mucopolysaccharidosis type I, or MPS-1. Babies usually dont show any symptoms at birth, but the condition is progressively debilitating, eventually causing permanent damage to mental development, organ function and physical abilities.
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And at nine days old in January, 2019, after a series of tests run by the newborn screen follow up team in pediatric genetics at Michigan Medicine C.S. Mott Childrens Hospital, Minette was officially diagnosed with MPS-1.
There were no signs of this disease during pregnancy or after her birth, says her mother Samantha Mejia, of West Bloomfield, Mich.
It was so important that we identified it early so she could get treatment that would give her a better chance of living a more normal life.
MPS-1 means the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules (glycosaminoglycans) within structures called lysosomes. Lysosomes are essentially the bodys recycling centers large molecules go in and come out small enough so the body can use them.
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When these molecules cant be broken down, they build up in the cell, causing many organs and tissues of the body to become enlarged, damaged and unable to work properly. Some children may develop mild to moderate mental impairment or learning difficulties, respiratory problems, sleep apnea and heart disease.
In severe cases like Minettes, children stop developing between ages 2-4, which is followed by progressive mental decline including loss of physical abilities and language skills.
MPS-1 was added to the Michigan newborn screen in August, 2017 just a little more than a year before Minette was born joining a list of more than 50 disorders that can now be detected through a simple blood test after birth.
Prior to being added to the newborn screen, many children were often diagnosed between ages one-and-a-half and three years old because they start losing developmental milestones or begin showing certain facial features as a result of glycosaminoglycans storage, such as thickened nostrils, lips or ears.
The clinical diagnosis of MPS-1 is often delayed because the symptoms tend to be non-specific early on. Newborn screening is crucial for making an early diagnosis and initiating treatment, which significantly alters the long term outcomes for patients, says Rachel Fisher, pediatric genetic counselor at Mott and a lysosomal storage disorder newborn screen coordinator for the state of Michigan.
Because of Minettes early diagnosis, her Mott care teams could quickly take next steps for treatment. She started enzyme therapy within six weeks, and at three months of age underwent four days of chemotherapy before ultimately getting a hematopoietic stem cell transplant to help replace the enzyme her body was missing.
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