Without external assistance, his body “forgets” to breathe. He was born with congenital central hypoventilation syndrome, also referred to as Ondine’s curse. Essentially, the brain fails to signal the lungs to breathe.
Thanks to a pacing device implanted at Mayo Clinic last fall, Vannausdle is breathing well on his own.
“When David returned for follow-up after his pacer implantation, he was bright and conversational,” says Ronald Reeves, M.D., a physical medicine and rehabilitation specialist at Mayo Clinic in Rochester, Minn. That contrasts dramatically with Dr. Reeves’ first meeting with Vannausdle. “Due to the high level of carbon dioxide built up in his system, he was so sedated he could barely talk with me,” he says.
Robin Vannausdle, David’s mom, says the device has been a life changer. “He can go places without having to take so much equipment,” she says. “David is more energetic and his personality has changed. He’s much happier.”
As a child, Vannausdle was tethered to a ventilator’s 10-foot hose all the time. As he got older, he used an oxygen tank during parts of the day and the ventilator at night. About 10 years ago, Vannausdle transitioned to using a BPAP (bilevel positive airway pressure) machine, which pushes air to open the airway. Last year, his hometown physician mentioned the diaphragmatic pacing system available at Mayo Clinic in Rochester.
The system is implanted in a minimally invasive procedure. Tiny electrodes are placed on the diaphragm, the main muscle used in breathing. Wires connect the electrodes to an external batterypowered device about the size of a large remote control. The implanted electrodes stimulate the diaphragm to contract and expand, allowing air to fill the lungs. Patients who use the system can reduce or end their need for a ventilator over time.
“All these years, I’ve thought this is just the way it has to be, with David hooked up to a machine at night. We never thought it could be this good,” says his mother.
The article comes from our Sharing Mayo Clinic print publication.