No Mom’s Land

Dealing with an UNdiagnosis
By Amy Crelly

“The whole experience just helped me be even more compassionate,” says Dr. Julie Vails, of the search for a diagnosis for her own son.

Every day Dr. Julie Vails answers patients’ questions and solves medical puzzles at Vails Family Practice in Elk Grove, but when her own son’s development began to puzzle pediatricians (including her), she found herself on the other side of the exam table, coping with terrible uncertainty.

When little Luca was born in October 2007, his exam results didn’t raise flags. But by his six-month well-baby exam, Luca had fallen under the fifth percentile for height. At first, Julie and her husband Tripp (5’ and 5’8” respectively) thought “no big deal.” Yet Luca’s head circumference moved up the growth charts, from the 50th to the 95th percentile.

“I quietly thought my son was a little funny looking,” Julie recalls, “but he was on task developmentally and I assumed that was just my medical mind going crazy.” Luca’s facial features were similar to those with hypochondroplasia (a form of short-limbed dwarfism), but his limb proportions were normal on x-ray. The pediatrician advised the family to keep monitoring Luca’s growth, a “wait and watch carefully” approach Julie knew well.

Then, one day in January 2009, a little old lady told Julie her “Down's baby” was very cute. “When I told her my son did not have Down syndrome, she asked why the doctors hadn't told me yet—because ‘they all look alike’!”

“I could have screamed,” says Julie. This stranger had verbalized something Julie had sensed all along. “My mommy instinct was going off,” says Julie. “My doctor instinct was going off.” She took Luca to a neurologist for another opinion. “In five minutes he said, ‘Oh, yeah, something is wrong,’” and Luca was diagnosed with hypochondroplasia.

Luca’s pediatrician and endocrinologist, however, still questioned the neurologist’s assessment, and when Julie began to reach out to other parents through Little People of America (LPA), more doubts arose. “Everyone was so welcoming and incredible—but there wasn't anyone with such subtle features [as Luca’s].” Luca was also already taller than many of the little people at events. “Many LP parents asked us why we were there. I kept thinking, Do I have it all wrong?”

Julie found herself researching night and day. “I was afraid of both jumping the gun and missing a major diagnosis in my own kid… It was very hard—not the diagnosis, the UNdiagnosis. I was trying not to be the crazy patient, and I hated not being able to ‘fix’ whatever was wrong right then.”

The family took Luca to the Skeletal Dysplasia Clinic at Children's Hospital Oakland for yet another opinion in March. There he was diagnosed with congenital short stature—meaning? “He is just short,” explains Julie, who says the experience has made her an even more compassionate family practitioner.

“Sometimes, you just have to let your kids show themselves,” says Julie. “[Doctors] can’t put people through a machine and say, ‘here’s your medical destiny.’ As difficult as it is, sometimes we just have to watch and wait, but that’s so hard for a mom... Now I understand that more than ever.”