Since May is celiac awareness month, I thought it was the perfect time to share Lily’s celiac story. Her mom sent this to me in hopes that it will help other parents who are searching for answers about their children’s health.
from Lily’s mom, Linda
“Lily was recently diagnosed with celiac disease at age 11, but I am now certain that this has been a lifelong problem.
In May 2011, Lily (age 10) broke her arm for the 5th time. It was the 4th humerus fracture, but the first in 3 years. After the 4th break, we ran blood work but it showed that her calcium and Vitamin D levels were fine, so we (and the pediatrician) wrote it off to an active girl.
This time, I was determined to figure out what the problem was. My research showed me that humerus fractures only account for 5% of pediatric fractures, and she had broken them 4 times! After a frustrating summer of multiple blood draws and a not very proactive pediatrician, we finally got a referral to Pediatric Endocrinology at the major university teaching hospital near us.
That doctor started out by saying that they get kids in all the time to evaluate for recurrent fractures, and they rarely find anything. She then ordered tons of blood work, with tests being sent to Mayo Clinic and some special lab in California. She also ordered a DEXA (bone density) scan.
All of the blood work came back normal, and after 3 weeks of calling I finally got her to return my phone call about the DEXA scan. She looked at the results while we were on the phone and said “Oh, it’s low. She’s osteopenic. It’s genetic and there’s nothing you can do but give her calcium and vitamin D.”
My daughter’s dance teacher has a celiac child, so on her advice I asked about celiac in that same phone conversation. She totally blew me off because Lily doesn’t have any GI symptoms. I, unfortunately, did press her on it. We took that result and advice and thought “ok, at least it’s nothing terrible, and they ran so many tests they must have checked for everything.”
Then in December Lily fractured her wrist, and we were finally able to get in at the peds orthopedic clinic at the same teaching hospital. The doctor there gave me a lecture about being my child’s best advocate and asked what endocrinology was doing to follow up. She made us an appointment with the head of peds endocrinology and suggested that we visit genetics also.
Over the next few weeks as we were waiting for those appointments, I realized that Lily had lost 5 pounds in the last month even though she hadn’t been sick at all. I took her to the pediatrician in mid-January (we had switched to a wonderful pediatrician in the same practice by then, and this was her first appointment with Lily) because I was concerned about the weight loss (she only weighed 68 pounds at that point, so 5 was a lot).
The doctor didn’t think it was anything to worry about, but ordered some blood work. Lily’s weight stabilized at that point, so we elected to wait to get a single blood draw two weeks later when we visited genetics.
Brittle Bone Disease?
Genetics also wasn’t worried about the weight loss, and decided that there was a 95% chance she had OI-Osteogenesis Imperfecta (Brittle Bone Disease). We agreed to spend major money on the DNA test to confirm that diagnosis, which would take 6 to 8 weeks for results.
While we came to grips with that diagnosis, we had the appointment with endocrinology, who also wasn’t worried about the weight loss. He said “she has osteoporosis, not osteopenia” and that we needed to do IV bisphosphonate treatment to strengthen her bones, which is standard of care now for moderate to severe OI kids. I wasn’t thrilled with the idea because I read that it’s not recommended for mild OI kids (which Lily would have been) because the risks outweigh the benefits.
I got very involved in an OI Parents Facebook group, and we decided to go see an expert. We got an appointment with the director of the OI Clinic at KKI/Johns Hopkins. Two days before that appointment (7 weeks after seeing genetics) the DNA test came back normal, i.e. negative for OI.
We went to see him anyway, and in the first 10 minutes he said, “Why hasn’t she been tested for Celiac?”
Within two weeks of that appointment, we had a diagnosis and started Lily on a gluten-free diet. The head of Peds GI was livid that no one had tested her for celiac diesease before. I am also appalled that genetics didn’t think of it!
Lily is a atypical presentation for a pediatric patient with celiac disease, but still……Her blood test numbers were so high (TtG of 99) that the doctor cancelled the scheduled endoscopy because he said it wasn’t necessary.
Hindsight being what it is, I now think this started when lily started on solid food (rice cereal at 4 months, then progressing on). She was never a good eater, and went from 75th percentile in weight while being exclusively breastfed to 15th percentile by the time she was 15 months old.
By the time we switched to our current pediatric practice, she was 18 months old and stayed a stable weight profile. But her first fractures happened at age 3, and the first time I took her to the dentist at 3 she had cavities in every tooth. So now we’re dealing with the reality that she’s been basically malnourished her whole life.
Nine months of the endocrinologist’s plan to give her tons of calcium & vitamin D supplements only improved her bone density by 3% and caused her to spill lots of calcium in her urine.
It All Makes Sense
It all makes sense now. And I wonder how many of those other kids with recurrent fractures of unknown cause should be tested for celiac??
I hope Lily’s story will save another family from our experience of medical run-around and lack of knowledge of some doctors, even at one of the foremost university hospitals.”