Author: Michelle Pflumm

Saving Grace: A whodunit solved with clues from the Middle East

microcephaly
Microcephaly causes small head size, seizures, developmental delays and intellectual disabilities. Did the Lennons’ unborn child have it?

Addison Lennon met all her early milestones: she sat up on time, crawled on time and walked on time.  At about 4 months, however, she had a seizure, and her parents started to worry. By 9 months, her head appeared small for her age.

Her neurologist reassured the family that Addison could still be within the lowest 5 percent of the normal range. “We were thinking she was typical,” says Kari Lennon, “she would be in that 5 percent.”

At 15 months, however, Addison had another seizure that was a lot more severe.  She had been tested for everything.  No one could pinpoint the cause of her so-called microcephaly, or small head.

Kari spent countless hours online in search of answers.  “How I could fix Addie? How could I make her better?” (Read on, or watch this video:)

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Better diagnostic testing for newborns with galactosemia

Babies with galactosemia cannot properly break down the sugar galactose.

For babies born with galactosemia, the simple act of feeding can be deadly. In this rare inherited disease, infants are deficient in an enzyme known as GALT, leaving them unable to metabolize galactose, a sugary byproduct of lactose found in milk and other dairy foods. Instead, galactose builds up and wreaks havoc. If the condition isn’t caught at birth and treated with a lactose-free diet, infants can develop cataracts, brain swelling and organ failure and die within the first few weeks of life.

However, some babies do have enough enzyme to keep the levels of this sugar down, and have a much milder ”variant” form of the disease. The trouble is, the existing newborn screening test cannot always distinguish these children from those with the more severe form of the disease. 

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Muscle weakness sliding into place

A zebrafish embryo (top) with weakened muscles.

Our ability to walk, run or breathe is dependent on the electric slide of actin, myosin and other proteins within our muscles. Much of our understanding of this synchronized dance comes from studying mice and human patients with genetic mutations that cause muscle weakness. Now, Alan Beggs, director of the Manton Center for Orphan Disease Research at Children’s, has taken a step in a different direction: zebrafish.

By modeling muscle diseases in these fast-growing fish, Beggs hopes to gain quicker insight into how our muscles move and develop therapies, particularly for a group of rare muscle-weakening disorders known as congenital myopathies.

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