8-month-old NH boy diagnosed with fatal genetic disease
MANCHESTER — Colton Faint is a happy 8-month-old, weighing just 11 pounds, according to his aunt, Shauna Broome. But baby Colton just got a fatal diagnosis.
“My sister is a mess,” Broome said. “This is just not what she expected.”
Colton is the third child of Krystal Faint but the first between her and her new husband, Christopher.
Colton was born in November 2016, two months premature. In January, his parents noticed he was frequently vomiting after eating. Doctors assumed it was a milk allergy, so his parents were urged to try new formulas until they found one that would work. But Colton still wasn’t gaining weight.
After several hospital stays with still no answers, Colton was referred to a GI specialist.
In May, doctors found Colton had a delayed swallow, and they inserted a feeding tube. Shortly after, it appeared he was having difficulty breathing. He would cough and hold his breath.
One night, his mother found him unresponsive and blue. She administered CPR and he was revived and rushed to the hospital, where he stopped breathing yet again. The Faints then brought Colton to Children’s Hospital Boston. On July 10, doctors diagnosed baby Colton with Type 2 Gaucher Disease.
Type 2 Gaucher Disease is a rare genetic disorder usually detected within the first three to six months of life, according to the National Gaucher Foundation. It is fatal, usually causing death before age 2. The disease results from not having enough glucocerebrosidase (GCase) enzyme, which is responsible for breaking down a fatty chemical called glucocerebroside. Because the body cannot break down the chemical, the fatty cells build up in areas such as the spleen, liver and bone marrow. It causes irreversible brain damage, and there is no cure. Fewer than 1 in 100,000 children are affected.
If both parents are carriers, like in Colton’s case, each child has a 25 percent chance of having Gaucher disease, according to the National Gaucher Foundation. It's a statistic that has extra meaning for the Faint family as Krystal Faint is currently pregnant with her and Christopher's second child.
Broome says Colton can get enzyme replacement therapy, but it won’t prolong his life. It will, however, treat his symptoms. But these treatments comes with a hefty price tag, $200,000 a year. Krystal Faint no longer works, instead staying home to care for her son, so money is getting tight.
“I feel a little off asking people for money,” Broome said. “But it’s a baby, and its medical reasons.”
Broome has set up a GoFundMe page to help with medical costs for baby Colton.
Broome said the family is taking the diagnosis one day at a time.
“You hear about this happening to other people, but it’s kind of unusual for something to hit you like this, especially when it comes to a baby,” she said.