Baby Fights Rare Genetic Disorder
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For most parents, the birth of a child seems like a miracle. That was certainly the case for a Gates couple. After years of trying, Dave and Kara Gagliano were finally able to get pregnant. Through prayers, and in vitro fertilization, baby Stella was born on November 16, 2010. Now her parents are hoping for one more miracle.
"She's a spunky little thing," Kara said.
Her name means star in Italian, and at just eight months old, Stella is already the star of her family.
"We just appreciate every second we have with her," Dave said.
Soon after Stella was born, her parents noticed she was having a hard time eating and wasn't gaining weight. Dave and Kara thought she had an infection until her family doctor discovered a large mass in Stella's abdomen.
"That started the battery of tests and it was her spleen that was enlarged," Kara remembered.
Stella underwent a bone marrow biopsy. Dr. Chin-To Fong at Golisano Children’s Hospital suspected a rare genetic disease that affects 1 in 100,000 newborns. A specialist in New York City confirmed what Fong feared: Stella had Type 2 Gaucher’s Disease.
"It affects brain function and the degree in which brain function is affected gets worse over time," said Fong.
Gaucher's is caused by a genetic defect and most commonly associated with physical symptoms like by skeletal weakness and bone disease. In Stella’s case, the disease is also attacking her brain.
"Currently, there is no treatment for the neurologic degeneration," Fong said.
Stella is undergoing enzyme replacement therapy to treat her physical condition. This will prolong her life, but there is no cure.
"The protein that we're giving her is not expected to enter the brain and give the same kind of magic it would to the rest of the body," said Fong.
Most babies with Stella's form of Gaucher's don't live more than two years, but the Gaglianos aren't giving up.
"We believe miracles can happen,” said Kara.
"I'm definitely hoping for some medical breakthrough," Dave said.
And if one little star could beat the odds just to be born, maybe there's one more miracle in her future.
"I'm definitely hoping for some medical breakthrough. I'm just hoping she can hold on so she can live to see that," Dave added.
Stella and her family recently met with another specialist at the National Institutes of Health in Maryland. Cells from Stella and her father are being studied to help the medical field better understand this condition.
In the meantime, Stella will now undergo enzyme replacement therapy weekly. This therapy isn't cheap – it costs thousands of dollars each time. Stella's family is selling bracelets that say “Stars for Stella” on them to raise money to pay her medical bills. For more on how to get one call 585-230-9421. Click the links below to find out about two upcoming fundraisers.
Stars For Stella Golf Tournament
Stars For Stella