In the pandemic era, so many people are forced onto ventilators to breathe.
But 5-year-old Mariella Vega was put on a vent shortly after birth, not due to COVID-19 but because of a rare genetic disorder.
However COVID-19 nearly took away her chance to come off the vent.
Until this week, when she became free.
Mariella is a sweet little girl who had a lot of hardware pulling her back as she navigates her home.
Victor Vega is her father.
“You would just hear her say, ‘Help me! Help me!’ because she wants to move,” he said. “And she got stuck between furniture pushing the vent.”
Some of her first photos show the ventilator ever present. The big box does what her body does not, forces her to breathe.
Dr. Debra Weese-Mayer is chief autonomic medicine at Lurie Children’s hospital
“When we run, we breathe harder, we breathe bigger and we breathe faster, when we go to sleep we breathe differently,” she said.
It happens automatically for most people. But Mariella has congenital central hypoventilation syndrome or CCHS.
“It can create seemingly devastating consequences but still result in an adorable little girl like Mariella,” Weese-Mayer said.
Believed to be related to SIDS, the condition renders Mariella unable to regulate oxygen and carbon dioxide.
Dr. Tony Chin is an associate professor of surgery at Lurie Children’s Hospital.
“That carbon dioxide builds up and she has problems with getting the oxygen that she needs in her body,” he said.
“They basically would die,” Weese-Mayer said. “It’s really as straightforward as that.”
A ventilator that forces air into the body helps alleviated the dangers of CCHS. But with pretty cumbersome consequences. Until now. Surgeons at Lurie Children’s Hospital used a minimally invasive procedure to implant a pacemaker in Mariella’s diaphragm.
“Instead of a large incision over the chest, there are small tiny incisions about a centimeter to half a centimeter,” China said. “We placed three of them in the chest and we are able to insert this electrode into the chest and secure it in place. … There’s a wire that sends an electric stimulus to the nerve and the nerve then tells the diaphragm to contract.”
And perhaps most exciting for Mariella and her family, the radio frequency signal comes from a tiny backpack, personalized perfectly for a little girl.
“With this little fanny pack or backpack, we can do her breathing for her,” Weese-Mayer said. “We can have this device do the breathing for her.”
There are different settings for play, rest and schoolwork where concentration changes breathing.
“The parents can, with our direction, make modifications as needed,” Weese-Mayer said.
While the ultimate goal is a permanently implanted device, for now the backpack gives this little girl new reach.
“It’s during the daytime, so we can decrease her disease burden and she can get on with the business of being a child,” Weese-Mayer said.
“We see children on the ventilator and we see children come off the ventilator and that is a huge reward for us,” Chin said. “Every little achievement that she makes that’s awesome and we enjoy that.”
But after a February surgery, COVID-19 delayed doctors from being able to program her device.
“We said, ‘Let’s postpone it to another day,’” Vega said. “And talking to the team we had to wait. Those were the longest days of our lives.”
Then came the clearance.
It was a strange feeling at first.
“She was a little hesitant at first, but then she got excited,” Chin said. “And in the background mom was excited dad was excited.”
“It’s been a long wait since we knew that this could happen,” Vega said. “Now we are here and we are enjoying thanks. We are extremely, extremely happy.”
And for the first time in her five years of life, Mariella could outrun her medical team and make plans to do exactly what she wanted to do.
“I will be able to go to my sister’s room and wake her up,” she said.
And the young girl who speaks three languages; sign, Spanish and English, had two words for her doctors.
“Thank you,” she said.
While most cases of CCHS are diagnosed shortly after delivery, some mild cases go unrecognized. Doctors are hoping this disorder is ultimately added to the newborn screening, so all babies are tested at birth.