Everyone’s journey is different for reaching a Celiac Disease diagnosis. Sophie’s is a little unique in that she was so young, but actually a relatively easy one to reach a diagnosis so quickly. Some parents have spent years looking for answers to medical issues before finally finding a doctor to test for Celiac. Thankfully, we found one to help at the second doctor. I love sharing the story of her diagnosis because of how God worked in our lives to bring her back to good health. Yes, it was so hard and stressful to go through, but I can still look back and see his hand on her through it all. If you’d like the run-down on getting her diagnosed, it’s the novel below. :)

Let me start kind of at the beginning, at least as far back as I can start to see changes and signs that made sense once we knew what was going on.  Sophie was on formula by the time she was 6 months old. (Different story there.) In December 2011, just days after she turned 1 year old, we began mixing her formula with regular whole milk to ween her off her bottle and, more importantly, formula.  Once we were to the point that there was more milk than formula, she began to have an upset stomach and a bit of diarrhea (sorry if that’s TMI, but there will be more so if that bothers you, you may wish to stop reading now).  We realized that she wouldn’t be able to drink plain milk by itself.  Nothing else seemed to bother her, though, despite having milk or cheese in it.

Just weeks after Sophie turned 1, we moved from Virginia to Burleson, TX to live with my mother-in-law while we transitioned out of the Navy and my husband looked for a civilian job.  Within a few weeks, we began to notice some changes in Sophie.  She was very fussy and seemed to keep having runny diapers, though some were normal.  I also began noticing that her arms and legs were getting smaller, but just slightly.  Around this time, she also had the first of her molars come through so we thought it was probably just teething.  By February 1, I knew something else was wrong.  We took her to the doctor and found out she had an ear infection.  I felt so relieved to know that it was known and could be treated!  We started her on medicine, but she wasn’t getting better but worse.  We changed prescriptions and still didn’t really see any improvement.  We all just assumed it was some problems with her teething.  All the while we noticed that she was forming this larger-than-normal belly, which at the time was cute.  Little did we know then what it was actually signifying. 

The diarrhea and fussiness continued into mid-February.  I began logging everything she ate and drank thinking it was something with her diet causing problems.  I also tried a few other things like switching dish soap thinking she was having a reaction to a different one we were using.  I suspected more of an intolerance for milk and milk products when she was up at 3 am one night throwing up after a very cheesy dinner.  A few more days passed and while she wasn’t throwing up, she was still very fussy, not sleeping well at all, still had diarrhea, and was still getting smaller.  Mainly her arms and legs were getting smaller, but everyone was just saying it was because she was moving around more since she was walking more then.  I knew something was still wrong with Sophie so we took her back to the doctor thinking maybe her ear infection was still there.  On February 14, two weeks after her last appointment, she had lost a pound when she was weighed.  After her losing weight at 3 months old (completely unrelated to Celiac and part of that other story mentioned above), this was alarming to me.  We presented the doctor with her symptoms – large belly, smaller arms and legs, diarrhea, extra fussiness – and after an examination, determined it was probably due to the infection and medicine still working its way out of her body.  He advised us to set up an appointment a week later and if she was still having problems, he would run some labs and try to determine what was going on. 

We set up an appointment for her for Feb. 21, but we moved for my husband’s new job on Feb. 20 so we canceled the appointment.  Once we moved, Sophie seemed to get worse.  She was so fussy that I had a hard time doing anything because she would cry so much if I put her down.  She didn’t want to eat half the time and still wasn’t sleeping well.  The diarrhea just seemed like it was never going to end.  There were days I had to change not only her diaper, but also her pants and socks and clean up her shoes and floor.  It was very upsetting to me to not know what was wrong with my child.  She had 2 more molars and a lower front tooth come in as well during this time, so teething still seemed possible, but I felt deep down that it had to be something more.  

I began looking up symptoms of lactose intolerance and cutting down on dairy to see if there would be a difference.  It became obvious to me this was a legitimate concern when she went a day and a half without anything dairy and was in the best mood, which quickly changed when I gave her a meal with a rather large amount of cheese incorporated.  The rest of the evening, she was EXTREMELY fussy and back to wanting to just be held again.  At this point, I realized that we needed to do a dairy-free diet to see if the problems disappeared.  

March 7th I decided to begin a strict no-dairy diet.  That same morning, something still wasn’t right.  I’m not sure what led me exactly to do it (besides the Lord’s leading), but I made her a doctor’s appointment with what I believe to be the only pediatrician in our town of about 2700.  This doctor believed there was more than teething going on, with her being the same weight as February 14th being a major factor.  She supported going dairy-free, but also felt that we would have to see a GI doctor to find out more of what was causing her to lose weight.  She ordered some labs and ordered them stat so that we could find out quickly.  By this time, you could begin to see the tops of her ribs easily and I had needed to go down a size in diapers.  Some labs we received back quickly, which showed blood in her stool, low protein levels, and the x-ray showing a lot of stool in her bowels (despite her diarrhea).  There were tests ran for Celiac Disease at this time, but the results would take a few days to get back.  

After about a week and TONS of research online of Sophie’s symptoms, I realized that she was showing signs of Celiac Disease so I began a gluten-free diet on March 9th to go along with her dairy-free diet. (By the way, this is not advised so don’t follow my lead here! Test first, then go gluten-free if you suspect Celiac Disease.)  The dairy-free diet stopped her diarrhea.  She began asking for food ALL THE TIME and would cry if she wasn’t eating.  It was like she was always starving.  March 14th, I took her for a follow-up appointment, where we discovered she had lost about a pound in one week.  We also had received the results of the Celiac tests, which were all showing high, indicating there was a good chance she had it even though blood tests can’t determine for sure.  I called to make an appointment that day with the GI doctor in Austin.  The earliest they had was April 3rd.  Because of all she was going through, they placed her at the top of the cancellation list.  We also had to put her back on a gluten so that they could run some more tests for Celiac Disease, which requires the effects on gluten on her body.  So, I put her back on gluten on a Wednesday and asked everyone to pray that I would receive a call Thursday afternoon about a cancellation on Friday.  There was indeed a call on Thursday about a cancellation on Friday!  God is so good!  When I called my mom crying, she then started crying with me, while reassuring my step-dad that it was a good cry. :)

The appointment Friday didn’t do much more than examine her and set her up for an endoscopy and biopsy on her small intestine the following Monday. This doctor did not usually do these on Monday mornings, but he scheduled it before his normal day of appointments so we could get it done as soon as possible.  A biopsy of the small intestine is needed to help determine if a person has Celiac Disease.  We continued on our dairy-free, just slightly gluten diet and took her for her endoscopy on Monday.  The procedure was shorter than it took for her to come out of the anesthesia, but we made it through.  The GI doctor informed us that we were welcome to start back up on the gluten-free diet, which we did that day.  Two days later, on March 21, 2012, we received the biopsy results, giving confirmation that Sophie did indeed have Celiac Disease.  Sophie was 15 months old.

Finally finding out that we knew exactly what was going on with our precious baby girl was such a relief that words cannot explain.  While it took a few months to get her back on track as her body healed and allowed nutrients to be able to be processed again, at least she wasn’t getting worse anymore.  We still monitored her and checked her weight to make sure all was going well, but I felt so much more at peace knowing that we were working at making her better.  Then there was the difficult task of learning what to she CAN eat versus what she WILL eat.  They didn’t always match up for a picky 1 year old!  

The first doctor that we saw on February 14th had enough information to know that she was showing signs for this disease, but I feel as though he didn’t know enough about it for it to come to mind at the symptoms.  I started with the intolerance to milk here because Sophie was on a milk-based formula and suddenly over a span of a couple of months seemed to not tolerate it at all.  This is common for those with Celiac Disease because of the damage done to the small intestines.  This was our first clue that was so easy to miss because it is not always related to Celiac. There are many other things that could cause this.

I praise the Lord for putting a knowledgeable doctor in our path and showing us the way to her diagnosis!  If you have any questions about Celiac Disease or anything we went through, please don’t hesitate to ask.  I hope to one day pass along enough information that Sophie’s story thus far can help another person in some way.