Undiagnosed 11yo daughter - frustrated

[WAM]

Hi all. I'm new to this and am not sure that I'm even posting in the right place. I'd appreciate some advice for what I should be asking (or even just how to be patient though this process.)

My daughter is 11.5 and I've been concerned that she hasn't been growing for quite a while now. She has always had a poor appetite but was fine on her growth curve for her first few years (60% height, 25% weight at age 5). Since then it has gradually slipped. I should also say that we are all tall, no one in the family is under 5'9", except one aunt who is 5'8"?! At the age of 7 she started having kidney stones. It has happened 5 times (once with an actual stone, other times with lots of blood in the urine - crippling pain etc). We've been to nephrology at the Children's Hosp in Hartford and they've never been able to identify any sort of renal "reason" for the stones. As of today her growth curve is now at 26% height and 3% weight. Her pediatrician has not been responsive to my concerns. Nephrology says "we've ruled out the scary stuff" so we'll just wait until there is another stone. They have no comment on the growth issue. To date all of the doctors have been focused on "ruling things out" rather than finding a reason. I feel like I've been watching her not grow for 3 years (her 9 year old sister has passed her in height and weighs 25lbs more.)

My friend is an endocrinologist and is familiar with her chronic poor appetite. She believed it to be GI so we've started with a GI at Yale. I should also say that my daughter has chronic canker sores and a father with PSC. I've had chronic canker sores my whole life, diarrhea since my 20s. Had my gallbladder and appendix out in my 20s. Ditto for my sister and mother. Also, my 9yo daughter does not have the growth issues but has had regular painful urgent diarrhea for a couple of years now. Two years ago Children's did minimal testing and gave me a pamphlet for IBS for her. In the past 6 months it has ramped up so I've also got an appt for her scheduled (But that's another thread.) The new GI doc was very responsive in that he was the first to say "Yes there is an issue and we need to identify and treat it." He mentioned CD. When I questioned that she's never had diarrhea (though she does have constipation) he replied that FTT and kidney stones are sometimes a tip off for CD. He ordered a fecal calprotectin and wanted us to keep a close food diary, try to increase her calories (but I've been doing that for 11 years?!) and we'd likely scope her in mid summer.

Calprotectin just came back from Quest at normal, 62.5. And I can't believe that I'm disappointed. I guess that I was hoping that a higher number would push us to scope her sooner. And I guess I was hoping that a high number would indicate we were on the right track. So now I'm back to the food diary for 7 weeks. I'm so anxious about the growth. Watching your child not grow does a number on a parent. And it is even more frustrating that the world sees a skinny girl and says "She looks terrific" when as a mother I know I'm not crazy. (At least I hope not.)

Sorry so long. I do feel good that I've finally found a physician who is taking my concerns seriously and that we have a path. I just want to know right now...this minute...so we can start working on getting her healthy and back on track.

Any advice for what I should be asking would be helpful. Many thanks!

 

[Mehita]

Has she been tested for Celiac Disease?

 

[pdx]

It sounds to me that you're doing the right things, and that you have a doctor who is serious about finding the cause of your daughter's symptoms. Scopes and an MRE or pill cam (you might want to ask about one of those as well) will give you the info you need to figure out if your daughter has IBD. I know it's hard to wait, but summer isn't that far away.

My daughter's height and weight curves started dipping about 5 years before her diagnosis with Crohn's, and neither we nor her pediatrician noticed. It was only when she got very ill that the growth curves suddenly made sense. So it's good that you've noticed and are being persistant.

Good luck with figuring out what's going on. I know it's very frustrating to not have a diagnosis, since you can't move forward with treatment.

 

[WAM]

Thanks very much. Celiac blood work was negative. I will definitely ask about the MRE and pill cam. Thankfully she isn't outwardly symptomatic in a way that is causing her distress. And hopefully it won't come to that. Though the sudden unexplained kidney stones do pop up now and then causing great distress. So it is really just the anxiety rattling around in my head that happens when your child outwardly looks fine but you know something is off. Especially when I watch all of her peers (and younger kids) shoot past her. I'm 5'11" (and a half?!) and my husband is 6'4" so I think I just notice height more than the average bear. And I can't help but think "Why can't you SEE that she is not growing?!!!" But again, I do trust that this doctor is responsive so I just need to take a deep breath and go through the process until it gets us somewhere. Thanks for taking the time to share your experience.

 

[pdx]

I understand! Hang in there.

Our family is also pretty tall. My daughter went from 97% in height at age 7 to 50% by age 12, and it still didn't set off alarms in her doctors, I think because she still wasn't really that short compared to her peers. I wonder if you're getting a little of that.

 

[Maya142]

I agree that a pillcam or MRE is a good idea. Sometimes in small bowel Crohn's, Fecal Calprotectin is not the best marker. Have they thought about Behcet's with the chronic mouth ulcers?

Does she have any symptoms that are causing her poor appetite - such as nausea or fullness after eating? Any abdominal pain?

I'll tag some of the more experienced members who may have more ideas: my little penguin,
crohnsinct, Clash, Tesscorm, Jmrogers4

 

[WAM]

Thanks, I'm sure that's true. I know this is a Crohn's forum and I don't even know if she has CD. But based on all of your collective testing can anyone think of what else it could be? The growth pattern supposedly suggests GI rather than endocrine. Is there anything else obvious that causes failure to thrive? The kidney stones with no renal disease or malformations (nephrology did a cystoscopy looking for them or masses) suggests malabsorption, the FFT suggests malnutrition. Canker sores could mean nothing or could mean something. We are definitely a GI challenged family. But if not CD, what else is there? I know I'm getting ahead of myself...this is just the most knowledgable (and invested) crowd I've come across outside of this new doc.

 

[Maya142]

The kidney stones and poor growth do sound like Crohn's. I know there are some kids on here who had very few, if any, symptoms besides growth failure. It does happen.

I'll also tag DanceMom - her daughter has an immune deficiency which was initially thought to be Crohn's. She might have some ideas for you.

My daughter also has Gastroparesis - delayed gastric emptying - in addition to her Crohn's. She would get very very nauseous after eating and very full after taking just a few bites. She also had stomach pain after eating. She also lost a lot of weight - 23 lbs - and was hospitalized several times for being so underweight.

For years, we blamed it on her Crohn's and then finally we did a gastric emptying test and were shocked to find that food was just sitting in her stomach, causing all these symptoms. She eventually had to get a feeding tube which has helped her gain weight.

I don't mean to say that your daughter has Gastroparesis, just that the GI world can be very confusing! Hang in there! I hope others will chime in soon with more ideas.

 

[WAM]

Thanks for all of the ideas. The poor appetite has been since birth. She had reflux and beyond that vomited so often that I would layer her crib sheets so that when she threw up in the middle of the night I could just pull one off leaving another below it. That resolved itself by the time she was 3 but she has never been interested in eating much at any sitting. She's not picky so much as just a bird like eater. So she grazes. But even in her early years her growth curve was consistently going in the right direction. It started slipping from age 6 on. But that said I just did the first 3 day food diary and she actually gets an average of 1700 calories a day so it isn't terribly low. This 8 week food diary and trying to increase calories doesn't feel very productive because honestly I've been trying to up her calories every day of her life. But given that I was finally talking to a doctor who seemed invested in solving the problem I didn't want to start off by saying "oh that won't make a difference." I really appreciate these other ideas and am keeping a list to have in my back pocket...

 

[kimmidwife]

It sounds like everyone has been going you good advice. It is hard. I am glad you have a doctor who is taking things seriously.

 

[Tesscorm]

I would ask for an MRE. Scopes (upper and lower) cannot reach into the small bowel (or, at least, can only reach a short distance in). An MRE will give an image of the small bowel. And, my son's GI, doesn't believe FC tests are completely reliable in patients with small bowel disease.

What about inflammatory markers? CRP or ESR? Are they elevated? Anemia? My son was anemic before being diagnosed. He also had canker sores. Night sweats? My son would sweat profusely at night, to the point of needing to change t-shirts (with no fever). Although, when he did flare, he would have fevers in the evening (often gone during the day). He also had back aches - not sure if the back aches were from an injury and it was the advils that triggered the crohns or if it was referred intestinal inflammation prior to diagnosis (although, coincidentally, back ache went away once crohns was under control).

Avoid nsaids (advils, ibuprofen) for now (until you have an answer) - tylenol is okay but nsaids are not good for crohns.

Nutritional shakes - you can supplement her diet with Boost or Ensure shakes. Will add calories and nutrition to her diet. Many of the kids here supplement with these shakes.

Good luck! It's definitely hard when you don't have an answer! :ghug:

 

[DanceMom]

My daughter is diagnosed with Hypogammaglobulinemia, which basically means that a key component of her immune system is decreased and functions poorly. We're not sure if the immune deficiency is primary or secondary.

Growth has always been an issue for her. My husband is 6'3 and I'm 5'9 so we're not short people either. A is 4'5 and 62 lbs at 11. Her symptoms are mostly GI related, not the typical pneumonia and strep that you'd expect with an immune deficiency.

You could ask for an immunoglobulin panel to be run. Your GI or Pedi could order it with the next set of labs. The immune system is a tricky beast and each individual presents differently.

 

[crohnsinct]

I am on my phone and can't really give your thread a good read through but wanted to pop on to say that celiac can turn up negative in blood work but you can still have it. Endoscopy with biopsies is gold standard.

Also thought of gp.

If she is simply not getting enough calories that could stall growth even if she was growing early on. My daughters friend had the same issue. Up until anout 8 she was right in there with the gang then everyone passed her by. she is also a bird like eater. In her case it was good intake. A good dietician and slow work fixed things.

But most kids want to eat. If they are not eating thru aren't eating for a reason. Pain? Nausea? Headache? Etc.

I will pm you. We are in ct. Have friends with kids with uc at Yale but we are at ccmc.

 

[crohnsinct]

P.s. One of my daughters presented with classic diarrhea. The other with constipation. You don't need diarrhea to have crohns!

 

[WAM]

All such helpful info. Didn't know to avoid the ibuprofen.

No idea on the inflammatory markers. She has been anemic occasionally over the years. No consistent aches and pains but she needs a lot of sleep and gets run down pretty easily.

Thanks so much!

 

[Worried mama]

My son has had lack of growth. He's 56 inches and 14 yo. We are not a short family either. That was his first symptom along with canker sores. We started out at the endocrinologist. You may want to schedule an appt with them as well to rule out any hormone or other growth issues. We went to GI much later on when he started having diarrhea...eventually Crohns....but even after being treated, still waiting on growth. Still see endocrinology and work together with endo and GI. I think they have to rule things out first, that's how they all seem to work. Sorry, I'm rushed right now....hope you get an answer soon.

 

[Worried mama]

Ps....I second trying to get her to drink boost or other shakes. They are easy to digest and chock full of the calories, protein and fat she needs....if she's lacking, it will make her tired. My son drinks them and also gets supplemental overnight formula through tube....has helped him to put on some weight and hoping that eventually helps him grow. Anyway, I'd give her some now, even prior to dx....can't hurt.

 

[WAM]

Thank you for all of the advice. We've done the pediasure, nestle good start, boost etc for quite a while now. I keep trying to switch it up because she gets tired of the taste. I've tried hiding the scandishakes in smoothies and I've had the best luck with the benecalorie liquid that adds 300 calories and is taste "neutral". It is easy to hide in pancakes and some other things. It is also tough because she feels fine and doesn't feel the urgency that I do for her to bulk up?! But we keep trying!

 

[Jmrogers4]

I could have written most of what you have wrote except we did have the Crohn's diagnosis but that may have come about so quickly for us because his father has crohn's they went right to testing for it. His growth and weight gain slowed considerably from about 1-4th grade when it just stopped. Even with the Crohn's diagnosis we still struggled because his labs were normal everyone thought disease was under control (we don't have diarrhea either). From 5th grade (10y.o.) when we received diagnosis until 9th grade he grew approximately 2" and did not gain any weight. I was forever trying "to get more calories" in him. He just wasn't hungry always said he was full. I kept asking shouldn't he be growing and developing? Finally at 14 1/2 his doctor said lets send to endo to rule out anything else causing growth delay. At the same time he switched his medicine to remicade based on an MRE that showed inflammation in the small intestine something we assumed he had in the beginning but also assumed medicine was controling it since labs were normal. Well after months of testing at endo that showed he was within normal levels but bone age was 2 years behind the remicade did the trick for him and finally brought about remission. With the first infusion he was starving. I watched him finish off a double cheeseburger and large fries. This from the kid I could barely get to eat a few bites at most meals. He didn't stop eating from there. Now at just shy of 17 while still skinny(at least he is on the charts) he is 6' and 136 lbs. 2 1/2 years ago he was 5'1" and 89 lbs. The MRE gave us that additional information we needed to know that we had issues in the small intestine which was causing the problems (inflammation led to him "feeling" full so he didn't eat which led to lack of calories which led to growth issues, etc. etc.
Good luck and keep us posted

 

[CarolinAlaska]

Is your daughter extremely flexible? Does she have bone pain? Depression?

 

[xmdmom]

I'm wondering if the nephrologists told you if the 24 hour urine tests showed any abnormalities such as increased oxalic acid (hyperoxaluria). This isn't a kidney "diagnosis" but I believe this is the urinary abnormality that is seen with GI related kidney stones. (Hyperoxaluria also has other causes including diet.)

 

[my little penguin]

They can send the stones out for testing as well to determine what type of kidney stone they are and the cause .

 

[CrohnsKidMom]

Sorry to hear you are going through this. My son was diagnosed at age 8, with symptoms of fatigue, fever, night sweats, weight loss, abdominal pain, mouth ulcers, and constipation. You are right to pursue a diagnosis for your daughter, I'm just sorry it's taking so long to get there. I hope you get some answers soon and get her on the road to better health.

 

[WAM]

Thank you for the most recent comments. I was out of pocket for a couple of days and so appreciate all of your thoughts and good wishes.

To answer a couple of questions:

They've never been able to "catch" stone. She's had five episodes in 4 years. Always presents the same. A day of grumbly stomach pain to which I respond "Oh you are fine". Then an intense escalation in pain to writhing on the floor, crying which can last hours. The first couple of times we've made it to the ER which mistakenly thought UTI which was then ruled out. After the hours of pain she always has a gush of ALOT of bright red blood in her urine. One time they saw a stone on an ultrasound. Another 24 hour urine catch found something (minerals?) but I'll have to go back and look to see if I have the records. Nephrology is confident that it is stones or stone like matter. Urology wasn't sure so they did a cystoscopy to rule out a mass or malformations. That was clean. So we've been on a wait to see if it happens again schedule with Nephrology. I'm going to go back and look to see if anyone listed hyperoxaluria.

CarolinAlaska asked about flexibility/bone pain. So both of my kids were hypotonic at birth. My oldest especially. They were both in birth to three programs because they never crawled and didn't walk until close to two. The did OT for several years because of low tone, core strength and balance. My oldest has mild curvature of the spine that they are monitoring but not concerned about. No specific bone pain but more overall persistent fatigue. Her teacher tells me that sometimes when she comes to school "she looks gray."

The thing that always strikes me about her bones is that if you hold her hand in yours it feels like you could just crush her bones with a moderate squeeze. I really want to get a bone age test done.

Still trying to get more calories in, seeing the doctor for my other daughter next week so I'm hoping to pepper him with more questions then.

Thanks again for all of the input. It is so helpful!

 

[squidinktea]

I don't know if it'll be much help, but I was diagnosed with Crohn's at age 11. Up until i was 9 I was in the top 10% height and weight wise, set to be ~5' 10" like most of my family if i kept growing at the rate I was. My growth drastically reduced at age 10 and i started getting nausea losing weight and intense abdominal pain. Crohn's runs in my family(father has it) so that was our immediate thought but it still took over a year and a half to get a diagnosis. They found a heart murmur and a gallstone before a endoscopy/colonoscopy confirmed it was Crohn's.

I know I hated ensure and boost and the like so my moms go to meal replacement was fruit smoothies with added whey powder and dessert tofu, agave syrup and sometimes fish oil? Berries will cover a lot up and I loved them. They're also good to just sip over the course of the evening.

All of the best for you and your daughter and I hope you get some answers soon.

 

[CarolinAlaska]

Thank you for the most recent comments. I was out of pocket for a couple of days and so appreciate all of your thoughts and good wishes.

To answer a couple of questions:

They've never been able to "catch" stone. She's had five episodes in 4 years. Always presents the same. A day of grumbly stomach pain to which I respond "Oh you are fine". Then an intense escalation in pain to writhing on the floor, crying which can last hours. The first couple of times we've made it to the ER which mistakenly thought UTI which was then ruled out. After the hours of pain she always has a gush of ALOT of bright red blood in her urine. One time they saw a stone on an ultrasound. Another 24 hour urine catch found something (minerals?) but I'll have to go back and look to see if I have the records. Nephrology is confident that it is stones or stone like matter. Urology wasn't sure so they did a cystoscopy to rule out a mass or malformations. That was clean. So we've been on a wait to see if it happens again schedule with Nephrology. I'm going to go back and look to see if anyone listed hyperoxaluria.

CarolinAlaska asked about flexibility/bone pain. So both of my kids were hypotonic at birth. My oldest especially. They were both in birth to three programs because they never crawled and didn't walk until close to two. The did OT for several years because of low tone, core strength and balance. My oldest has mild curvature of the spine that they are monitoring but not concerned about. No specific bone pain but more overall persistent fatigue. Her teacher tells me that sometimes when she comes to school "she looks gray."

The thing that always strikes me about her bones is that if you hold her hand in yours it feels like you could just crush her bones with a moderate squeeze. I really want to get a bone age test done.

Still trying to get more calories in, seeing the doctor for my other daughter next week so I'm hoping to pepper him with more questions then.

Thanks again for all of the input. It is so helpful!

The reason I asked about the hypermobility is that some connective tissue disorders can present with GI complaints. You may want to ask about these. They are rare and probably underdiagnosed.