Amanda enjoyed a perfectly healthy pregnancy, so when their daughter Carmen was born at the PLC with a bi-lateral lumbar hernia, Amanda and her husband Adam were completely blind-sided. The two “golf balls” poking out of her lower back were actually her kidney and part of her bowel, because the muscle at the back of her abdominal cavity just didn’t develop. Within minutes of being born, Carmen was rushed to the PICU – where she stayed for the next 30 days.
The following March, Drs. Mary Brindle and Steve Lopushinsky conducted a 9-hour operation to correct her hernia using a form of “medical mesh” to act as the back muscles, lift up her displaced organs and hold them in place. They also took a muscle biopsy to try and figure out why she had low tone and just wasn’t thriving. During that surgery, Carman had a near-fatal reaction to the anesthetic and the team had to fight to revive her. That muscle biopsy ultimately determined Carmen has Central Core Disease – a condition so rare that only one other patient at ACH has it. The condition is characterized by profoundly weak muscle tone, a serious or life-threatening breathing problems, and a dangerous reaction to anesthetic.
Because Carmen can’t sit up straight, her lungs are crushed which compromises her breathing even further to the point she has to be on a ventilator at night. To correct this, Orthopedic surgeon, Dr. Fabio Ferri-de-Barros performed a surgery using a non-triggering anesthetic, to put her into halo traction that gently pulls her head upwards and straightens her spine.
Her mum Amanda says that at first halo traction sounded barbaric, but she can see the results already and now has the exact opposite opinion. Carmen will be in traction and in hospital for the next three months, at which time Dr. Ferri-de-Barros will insert titanium rods into Carmen’s back to keep her spine straight. As she grows, the rods will be lengthened non-invasively using magnets outside of her body. This is great news for Carmen, as it means less recovery time and less risk of infection. Getting Carmen sitting up straight will not only make her more comfortable, it will improve her eating and breathing because her stomach and lungs will no longer be squished. Right now, because her lungs are compromised, Carmen is vulnerable to infections – another issue this procedure will hopefully remedy.