Caring for a child with a rare genetic disorder
I
knew one thing when I started medical school — I would never go into pediatrics. When I did my pediatrics rotation, though, I fell in love with it. I enjoyed the patients
and the parents, and I guess it was meant to be. I’ve kept a picture of one of my patients — Isabel — on my desk for a long time. I started seeing her as a newborn. We weren’t sure what was wrong with Isabel at first. She would slough her skin and hair very rapidly. She couldn’t sweat. She grew teeth very quickly and then lost them by 6 months old. I started doing some research and sent her files to a geneticist who diagnosed her with a rare form of ectodermal dysplasia, a genetic condition with only six previously reported cases in the world. All of the tissues in her body were aging rapidly, which led to infection. There’s no cure. All I could do was try to prevent her from getting infections and to intervene quickly when she did. Because she couldn’t sweat, temperature control was critical, too, and I monitored it regularly and tried to maintain a steady balance in her body. Isabel was a fighting little girl. She enjoyed going to Disney World and spending time at her family’s camp in Mississippi. She loved
Dr. Sheila Pitre (BS ’87)
Pediatrics | The Children’s Clinic of Thibodaux 20 years in practice
life and so did her family. Kids tend to handle illness — even fatal illness — better than their parents do. They’re more worried about their parents than they are about themselves. We lost Isabel one year ago at the age of 5. You try your best to help, but there are those kids who you just can’t save. I believe that God put these kids on earth for a reason, and that’s to teach us how precious life is. Isabel was one of those kids. She was a blessing. ■
“I grew up in a farming family, and my parents insisted that we went to college. If we could stay local and save money, then we did. When I got to medical school, I realized that Nicholls had given me a very strong base. The pre-med classwork really helped me get through the first couple of years in med school.”
KIDNEY STONE SURGERY simple path that it should have. The surgery was successful, but it was real scary, tedious work that would probably only take 35 minutes today. I also performed the first ureteroscopy in Louisiana. I knew a guy who worked for the company that created the ureteroscope, an instrument that can be passed through the urethra and bladder and look up the kidney tube to find and remove the stone. At the time, there had been no training on how to use this new scope.
Voilà! The Magazine of Nicholls State University
I told the company rep about one of my cases, and he said let’s see if it works. It did, but it wasn’t without anxiety. I love practicing urology, but what I really love is treating patients. There’s a lot more to patient care than treating their illness. I try to spend time discussing the issues surrounding the problem — whether it’s anxiety, depression or family conflict. If you just walk in and say you need an operation and then walk out, you miss a lot. ■
“I originally went to Nicholls to study math, then changed my major to pre-med after working part time at Thibodaux Regional. The biology foundation I got from Nicholls made medical school a lot easier. I didn’t have to go back and learn things; I had already been taught the basics.” FALL 2013
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