Baby Gets Early Stem Cell Transplant to Treat Rare Disease Thanks to Newborn Screening

October 22, 2020 5:00 AM

MPS-1 had recently been added to the newborn screening panel when Minette was born, leading to an early diagnosis and the first stem cell transplant at Mott for a lysosomal storage disorder. 

Toddler walking on dirt path surrounded by trees
Thanks to an early diagnosis through newborn screening, Minette got a stem cell transplant to treat her rare lysosomal storage disorder at three months old. Photos courtesy of family.

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 don’t 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 Children’s 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 body’s recycling centers – large molecules go in and come out small enough so the body can use them.

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When these molecules can’t 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 Minette’s, children stop developing between ages 2-4, which is followed by progressive mental decline including loss of physical abilities and language skills.

Newborn screening is crucial to effective treatment

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 Minette’s 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.

"Newborn screening is crucial for making an early diagnosis and initiating treatment, which significantly alters the long term outcomes for patients.” Rachel Fisher, Mott pediatric genetic counselor."
Rachel Fisher

The success of treatment greatly hinges on the timing, says Mark Vander Lugt, M.D., a bone marrow transplant physician at Mott who treated Minette.

Studies show that patients with severe MPS-1 are more likely to have better outcomes if they receive treatment before they turn two, with a higher likelihood that symptoms of the disease stop progressing.

“MPS-1 symptoms tend to show up as children get older when treatment is less likely to be effective,” Vander Lugt says.

“Cases like Minette’s reinforce the important role newborn screening plays in identifying rare diseases early.”

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To be added to the newborn screening panel, the disease must be something that isn’t easily caught, has effective treatment and potential therapies should be accessible for anyone who gets screened. Diseases are evaluated by teams of specialists who determine whether they should be added.

Toddler playing on porch
Today, Minette is a rambunctious toddler “full of personality” and “thriving,” her family says.

Enjoying life post-transplant

Minette’s family says they were grateful for the care she received to help her through the weeks-long hospital stay.

“We knew it would be difficult but the nurses and doctors were incredible,” Samantha says. “For us there was no question Michigan was the right place for her.”

And today, at 21 months old, Minette is a rambunctious toddler “full of personality,” her mom says.

She loves Mickey and Minnie Mouse, drawing, climbing stairs, and ducks and frogs.

“She is truly the smartest and coolest person I’ve ever met, and spending time with her is the greatest gift,” Samantha says.

Last spring, Minette even spent a month camping around the country with her mom, dad, Lee and two dogs (a lab pointer mix named Oreo, and shih Tzu beagle mix named Tibi.)

She continues to receive care at Mott and because MPS-1 is a multi-organ disease, she will be followed and monitored by several specialties including genetics, neurology, physical medicine and rehabilitation, cardiology, orthopedics, ophthalmology and the transplant team.

“She may need some more surgeries, but we’ve already been through some of the biggest battles,” Samantha says. “We don’t know for sure what the future holds, but for now she’s doing incredible and just thriving.”