Lily’s Celiac Story

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.

Broken Bones

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.

Osteopenia

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.

Lily

Weight Loss

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.

Celiac Disease

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

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.”




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Comments

  1. Linda (and Linda), thank you so very much for sharing Lily’s story! Every time I hear one of these stories, I want to scream. Doctors must start looking for the causes of these issues. To disregard repeated broken bones and then to later just diagnose osteopenia and say it is genetic and prescribe supplements is so wrong. I totally am with the latter doctor who was livid that celiac testing had not been done before. More and more folks are presenting with atypical celiac and about 40% have no symptoms at all. But as you’ve shown, Lily DID have symptoms … the broken bones, the cavities, not being a good eater, being underweight/losing weight, etc. Most doctors are not connecting the dots and so many are suffering because of it. To test for brittle bone disease before celiac is very disappointing to say the least, and costly in your case. I have mixed feelings about the fact that the doctor diagnosed your daughter with celiac disease without the endoscopy/biopsy. While I feel she definitely has celiac disease, somewhere down the road, some doctor will want her to resume eating gluten and have an endoscopy/biopsy because he won’t consider her to have celiac. Don’t do it, of course, and you’ll have to educate her on that for when she’s off on her own, but just a heads up on that. Thank you again so much for sharing your family’s story with getting your daughter diagnosed and gluten free! Will share with many. And, last, I’m assuming that is a recent photo of Lily. She looks healthy, happy, and beautiful! :-) All the best for her continued healing!

    Shirley

  2. For someone like myself, what are the symptoms of Celiac or wheat/gluten sensetivity? Also, if you are someone who can not have gluten, and ate it, what happens to your body? And how do you know if yo are wheat or gluten sensitive?

    • Susan, that’s really more information than I can answer here. This link is a good place to start: http://celiaccenter.org/faq.asp I also have some information on celiac disease here: http://glutenfreehomemaker.com/celiac-disease-information/

      Your questions about what happens when someone eats gluten depends on the person. I’m also not sure if you’re talking about before or after the person goes gluten free. There is a difference. For instance, before I found out I had celiac disease I had constipation (even though diarrhea is much more common). But after I went gluten free, a tiny bit of gluten would cause diarrhea. The symptoms and reactions can vary widely from person to person which is why, as in Lily’s case, it often gets missed.

  3. Rachael says:

    Thank you for sharing Lily’s story. I have two daughters that suffered with atypical symptoms for their entire 6 and 12 years of life. We had to fight tooth and nail for 12 long years to get answers. The girl and I were all diagnosed two years ago and yet I still have a tremendous amount of guilt and frustration that it took so long. We are still referred to as “atypical Celiacs” but I believe that there are far more children and adults like us out there in comparison to the Celiacs who have gastro symptoms. I worry about damage that cannot be reversed for my girls. I think about other Moms and Dads out there who have children that are sufferig and can’t figure out why. Something has to change!

    • I agree, Rachael, that something has to change. It has improved, but not nearly enough. Your girls are young, and hopefully their bodies will make up for lost time.

  4. Linda (Lily's mom) says:

    Thanks for the support, everyone. The moms in the OI Parents Facebook group are the ones who really deserve the credit for pushing me to get the answers. There were other clues I didn’t mention – a 2.5 year bone age delay and an uncle (my brother) with Crohn’s and an aunt (my sister) with Hashimotos (and I think Celiac). That’s why it is amazing to me that Genetics didn’t think of it, and instead did a $3000 DNA test for OI. You will all be glad to know that we met with the head of Peds Endocrinology at our local university hospital last week and his first words to me were “you’ve been everywhere since you were here last”. My response? “Yes, and now we actually have a diagnosis!”. That kind of shut him up. I did get him to admit that they have changed their protocol and now all kids who are being evaluated for frequent fractures will be tested for Celiac. So some good has come of this, and I definitely want to get Lily’s story out there for that reason. And, Shirley, that is actually a photo from last August (first day of school) when she was 5 pounds heavier than she is now. But after 4 weeks on the gf diet, she is getting stronger and has gained 2 pounds. She is sleeping much better (she used to be such a restless sleeper) and wakes up with a lot of energy and actually eats breakfast without me force feeding her! And, I know, I have mixed feelings about not having done the endoscopy, but the Peds GI doctor said that there is a new study out of Denmark and if there are symptoms and a TtG of at least 100 (and she was 99) then the diagnosis can be made without the biopsy. With all we had put her through, we decided to cancel the procedure and get started on the first day of the rest of her life!

  5. Dave Augst says:

    For 20 years I had stomach trouble but, it took my breaking out in hundreds of blisters before the doctors finally had me tested for gluten intolerance, and the doctor who finally did was so upset that it hadn’t been done but, it was too late because, I now have DH which is the worse form of gluten intolerance, and my teeth have all fallen out, and broke off, and my bones are so fragile I am afraid to move, and can barely go anywhere but, this could have all been prevented if the doctors would have run one simple test.I am so glad that they caught Lily’s intolerance at least soon enough that she can have quality of live, and I wish Lily the best.
    Sincerely,
    Dave Augst

    • Thanks for sharing your story, Dave. It’s so sad that people like you have to suffer needlessly. Hopefully your bones will strengthen now that you are on a gluten-free diet.

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