LIVONIA, Mich. – It was a very merry Christmas for one Livonia family who were able to spend the holidays together at home instead of at the hospital.
Both of the Cologne-Garcia children have spinal muscular atrophy (SMA), a rare genetic disorder that destroys the muscles and nervous system, but a life-saving therapy at Beaumont Children’s Hospital has them incredibly grateful this year.
The Cologne-Garcia kids -- 3-year-old Jackson and 3-month-old Olivia -- both have received breakthrough treatments for their SMA.
“I say we’re so lucky because Jackson when he was treated with Spinraza at the time, he was the youngest in the world to be treated,” said the children’s mother. “And she, so far, is the youngest to be treated with a new drug.”
Separated by just three years, medical advancements significantly improved the prognosis for kids with SMA. And this big brother played a critical role in improving the quality of life for his baby sister.
“I’ve been saying he’s her protector before he even knew,” she said. “It’s just incredible to know that she is going to live an even more normal life than her brother will. And he, in a way, helps pave the way for her which is really cool too.”
In November, the family was in hospital for Jackson, who had surgery on his lower jaw to improve his oral skills..
“We got home from Jackson’s surgery two days before Thanksgiving,” she said. “It just makes us cherish the time that we have with our families so much more.”
Beaumont Children’s Hospital is one of just four hospitals in Michigan that offer the infusion therapy Olivia received.
“We could not have done this without the medical team that we have. They have just been absolutely amazing,” the children’s mother said.
“I never could have imagined having such joy from watching these children grow up,” said the children’s father. “You could be in the worst mood ever and they put the biggest smile on your face just looking at them.”
“We know that every step they take, every milestone they hit is a miracle in and of itself, so we really try to cherish every single moment that we can,” the mother concluded.
Imagine heart surgery without anesthesia, breathing tubes and weeks of recovery time.
A new noninvasive surgery is being offered at Beaumont Hospital that has the patient awake for the procedure.