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Jan 7, 2008 11:10 pm US/Central
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2 Baby Girls Struggle With Rare Genetic Disease
(WCCO)
It's one of the first great successes in the field of genetic counseling and diagnosis. Before 1970, there were at least 60 cases of the fatal Tay-Sachs disease in the United States. Now genetic screening in at-risk populations has reduced the number to only three to five cases each year.
However, there are two little girls with Tay-Sachs in Minnesota right now and their struggles with the fatal disease may have very different outcomes.
For little Cedie, it's hard to know what little she sees or hears anymore as the fatal disease she has is progressing so fast.
"It's devastating knowing what she has and the outcome," said Cedie's mother Vanessa Filsmyer. "But I'd rather know."
Vanessa and everyone in the family are trying to make little Cedie happy and comfortable. Because she couldn't swallow any more, she gets all her medicine and nutrition through a feeding tube.
"It's tough, I can say that," said Vanessa. "But there's no cure, there's no treatment."
Just a few months ago, Cedie seemed to be healthy, but then, some things didn't seem right. Cedie stopped talking and holding her head up on her own. The search for a cause was difficult.
It's the first case Pediatrician Julie Hower of Gillette Children's Hospital has ever seen.
"The carrier rate is one in 300," she said. "It's much more rare than things like cystic fibrosis, sickle cell anemia as examples. Much, much, much more rare than that."
Cedie has Tay-Sachs disease, a genetic abnormality that causes an enzyme deficiency that ends up being toxic to the brain.
Tay-Sachs is nearly extinct because both parents must be carriers to pass on the abnormal gene, and because genetic testing is more widely available, alerting parents who might pass on the disease, not to have children.
"Tay-Sachs is a devastating disease," said Dr. Paul Orchard of the University of Minnesota Children's Hospital. "The babies are born and are like normal in the first several months of life, and then they start to lose motor skills and go down hill neurologically over a period of months and usually die within a few years of diagnosis."
Little Krystie had been on that downhill spiral. Her two dads, Bruce and Rick, had tried for years to have a baby using in vitro fertilization with a surrogate mother.
They noticed their daughter stopped meeting certain milestones.
"By eight months still she couldn't sit on her own," said Krystie's dad, Bruce Steiger. "She couldn't hold her own bottle. So we started to get concerned."
An eye exam the day before Krystie's first birthday led to the diagnosis. An ophthalmologist saw the tell-tale cherry red spot found in all Tay-Sachs cases.
"He looks in her eyes," Bruce Steiger said. "Closes the door and says I'm so sorry."
Still, the dads were optimistic. Now that they had a diagnosis, they had hope for a cure.
"And we found out no," said Steiger. "Tay-Sachs has been around, discovered about 120 years ago, and there still is no cure."
Their only hope is a risky bone marrow transplant at the University of Minnesota.
"So the earlier you pick up the disease and do the transplant, the better off you are," said Orchard.
It's a tough decision for parents. Krystie must undergo chemotherapy to basically shut off her immune system, and then the missing enzyme will be delivered with the healthy transplant cells.
"We're under no illusions that the treatment here at the U, the transplant itself, is the ultimate cure," said Rick Karl, Krystie's dad. "But it's a piece of the puzzle and it's an important piece."
Nine months after Krystie's transplant, she's had some set backs, but there are encouraging signs.
"Her new cells have taken hold well," said Orchard. "And her blood counts are very good. The hope is to not have any further progression of the disease."
The only hope for Cedie is the love her family provides.
"I think it helps to know that she's a special part and she's made us so happy and made my family just come together," said Vanessa. "She's an angel."
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