Jump to content
  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.




  • Celiac.com Sponsor (A1):



    Celiac.com Sponsor (A1-M):


  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Mystery Diagnosis (Long Story)


cmdoppler

Recommended Posts

cmdoppler Newbie

Bear with me this will be a long post.

I have a 5.5 year old son. He was born 9 days early, almost 9 pounds, healthy and happy. The only thing that was strange was that he spit up from day one, like projectile. I kePt taking him to the dr for this but they said he was growing and babies spit up. FInally the dr put him on a special formula that was thickened with added rice starch to help him keep it down.

When he was around 3 we noticed be had one eye that turned in and took him to the eye dr and he has glasses to correct that problem.

When he was almost 4 he passed a head start screening (preschool) but was not enrolled at that time. He was not potty trained so I chose a daycare program instead (I at the time worked 50 hours+ a week). Around that time the daycare provider asked me if he was "slow" and a few family members mentioned concerns. I dismissed them because I felt that cognitively he was fine.

Right after he turned four he had his absolutely huge tonsils removed. A few months later we moved to a new small town because my husband got a new job and I became a stay at home mom again. We moved to a 3rd floor apartment.

After we moved I really noticed some concerns in my son. He was still not potty trained and his exact words were "I cannot control myself". He also seemed to have a low physical endurance and complained often of leg pain. I scheduled an appointment with his regular pediatrician (we only moved an hour away so pretty much the same dr he has always seen). She listened to my concerns and mentioned the possibility of a tethered spinal cord. She scheduled him for an MRI of the brain and spine and also scheduled assements by physical therapy, occupational therapy, and speech therapy just to get an overall picture of where he was. But she also wasnt concerned about him cognitively.

The MRI of his brain was normal. The MRI of his spine showed that he has spina bifida occulta. That means that his bones did not fuse properly over his spine. Thankfully he wasn't born with the serious spina bifida where the spine was exposed. Apparently much of the population has sbo without even knowing it because it doesn't often cause symptoms. The dr went over these results with us and also ordered an ultrasound of the area to check for tethered cord (which was not obvious on MRI). The ultrasound did not show very much movement of the cord. The dr refered us to a special children's hospital 9 hours away to see a pediatric neurologist and pediatric neurosurgeon.

We saw the neurologist and she was very dismissive. She told us that the sbo was a totally incidental finding, that the MRI did not show a tethered cord and that we were over refered. She diagnosed our son with hypotonia (low muscle tone) and cancelled our appointment with the neurosurgeon and sent us on our way.

As soon as we got home I contacted our pediatrician and she agreed with me that she wasn't ok with leaving it at a diagnosis of low muscle tone without looking for an underlying cause. I had a sister that had muscular dystrophy. So she refered us to a new pediatric neurologist who specializes in developmental issues.

Also during this time he had his pt, ot, and st evaluations. Physical therapy he was delayed in motor skills, occupational therapy showed more delays in fine motor skills, and speech was normal. So he was considered developmentally delayed and based on those assessments he qualified to start a special preschool program. He recieves all 3 therapies in school once a week.

So last week we finally had our second neurologist appointment. This dr was a much better fit. She listened to the whole health history. It feels like this is a game of connect the dots and with our son there are a lot of dots and I am no sure which are related. So I told her everything. Including that Cain has always seemed to have digestive issues.

She believes that he has one of four problems. 1) a metabolic disorder, 2) an autoimmune disorder, 3) a muscle point problem, or 4) a nerve point problem.

So she ordered a whole lot of blood tests. And we go for some more (fasting) tests this week. The only tests that have come back so far is his white blood cell count was normal and he has protien in his urine.

Anyway one of the things she is testing specifically for his celiac disease. And the more I read about it the more it makes sense to me. He always has diareah and he often has sandy poops. When he was a baby it was like his bottom was tore up because the poops made him bleed. And the leg pain could be because he isn't absorbing his nutrients.

Anyway I wanted to share my story, we are waiting for his blood tests and not sure where we go from here but we will see.

Thank you for reading.


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



ravenwoodglass Mentor

Welcome to the board. It sounds like you have found a good doctor. Do be aware that false negatives are even more common with children than adults and adults have a pretty high rate. Read as much as you can here and ask any questions you need to. Don't take him gluten free until after all celiac related testing is finished as that will cause a false negative. Hope you get some answers soon.

cmdoppler Newbie

So all of the blood tests we have already done came back normal. Including the celiac test. I don't know the exact number but I was told it was normal. So I guess we are back to square one.

pricklypear1971 Community Regular

You have the option of requesting a Celiac biopsy to confirm.

You also have the option of a gluten-free trial to see if there is improvement.

I would also get copies of all tests and read them. Check to ensure all Celiac blood work was performed. Many times just one test is run, when in fact testing consists of a number of tests.

Mnicole1981 Enthusiast

What exactly is the cause of protein in your urine?

MitziG Enthusiast

Yes devfinitely ask for copies of the labs and post on here. Few docs run the complete panel, or even the most up to date celiac tests!

mommida Enthusiast

Since there are so many false negatives in Celiac testing (and also some doctors don't order the full panel) I think you should continue to work with a pediatric gastroenterologist.

There is a list of disorders that can present with the same symptoms as Celiac. Some of these disorders have a connection to Celiac. A good majority of these things can be diagnosed with an endoscopy with biopsy. Do not remove gluten from the diet until this testing is done, as gluten can be a "trigger" for eosinophil production too. You will unfortunately need the damage to present for diagnoses.

The symptoms do seem to suggest a food sensitivity or GI issue. So keep a food journal to keep track of amount of food ingested, symptoms and BM.

Please keep us informed. So many here care about getting people proper treatment and improving health. :)


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



cmdoppler Newbie

Thank you

Archived

This topic is now archived and is closed to further replies.

  • Get Celiac.com Updates:
    Support Celiac.com:
    Donate

  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):





    Celiac.com Sponsors (A17-M):




  • Recent Activity

    1. - ShariW commented on Scott Adams's article in Frequently Asked Questions About Celiac Disease
      4

      What are Celiac Disease Symptoms?

    2. - klmgarland replied to klmgarland's topic in Dermatitis Herpetiformis
      2

      Help I’m cross contaminating myself,

    3. - Scott Adams replied to klmgarland's topic in Dermatitis Herpetiformis
      2

      Help I’m cross contaminating myself,

    4. - Scott Adams replied to Jmartes71's topic in Coping with Celiac Disease
      1

      My only proof

    5. - Scott Adams replied to Colleen H's topic in Related Issues & Disorders
      1

      Methylprednisone treatment for inflammation?


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      131,908
    • Most Online (within 30 mins)
      7,748

    ebrown
    Newest Member
    ebrown
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • klmgarland
      Thank you so very much Scott.  Just having someone understand my situation is so very helpful.  If I have one more family member ask me how my little itchy skin thing is going and can't you just take a pill and it will go away and just a little bit of gluten can't hurt you!!!! I think I will scream!!
    • Scott Adams
      It is difficult to do the detective work of tracking down hidden sources of cross-contamination. The scenarios you described—the kiss, the dish towel, the toaster, the grandbaby's fingers—are all classic ways those with dermatitis herpetiformis might get glutened, and it's a brutal learning curve that the medical world rarely prepares you for. It is difficult to have to deal with such hyper-vigilance. The fact that you have made your entire home environment, from makeup to cleaners, gluten-free is a big achievement, but it's clear the external world and shared spaces remain a minefield. Considering Dapsone is a logical and often necessary step for many with DH to break the cycle of itching and allow the skin to heal while you continue your detective work; it is a powerful tool to give you back your quality of life and sleep. You are not failing; you are fighting an incredibly steep battle. For a more specific direction, connecting with a dedicated celiac support group (online or locally) can be invaluable, as members exchange the most current, real-world tips for avoiding cross-contamination that you simply won't find in a pamphlet. You have already done the hardest part by getting a correct diagnosis. Now, the community can help you navigate the rest. If you have DH you will likely also want to avoid iodine, which is common in seafoods and dairy products, as it can exacerbate symptoms in some people. This article may also be helpful as it offers various ways to relieve the itch:  
    • Scott Adams
      It's very frustrating to be dismissed by medical professionals, especially when you are the one living with the reality of your condition every day. Having to be your own advocate and "fight" for a doctor who will listen is an exhausting burden that no one should have to carry. While that 1998 brochure is a crucial piece of your personal history, it's infuriating that the medical system often requires more contemporary, formal documentation to take a condition seriously. It's a common and deeply unfair situation for those who were diagnosed decades ago, before current record-keeping and testing were standard. You are not alone in this struggle.
    • Scott Adams
      Methylprednisolone is sometimes prescribed for significant inflammation of the stomach and intestines, particularly for conditions like Crohn's disease, certain types of severe colitis, or autoimmune-related gastrointestinal inflammation. As a corticosteroid, it works by powerfully and quickly suppressing the immune system's inflammatory response. For many people, it can be very effective at reducing inflammation and providing rapid relief from symptoms like pain, diarrhea, and bleeding, often serving as a short-term "rescue" treatment to bring a severe flare under control. However, experiences can vary, and its effectiveness depends heavily on the specific cause of the inflammation. It's also important to be aware that while it can work well, it comes with potential side effects, especially with longer-term use, so it's typically used for the shortest duration possible under close medical supervision. It's always best to discuss the potential benefits and risks specific to your situation with your gastroenterologist.
    • Scott Adams
      Based on what you've described, it is absolutely possible you are dealing with non-celiac gluten sensitivity (NCGS).  Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS.   Your situation is a classic presentation: a negative celiac panel but a clear, recurring pattern of symptoms triggered by gluten. The symptoms you listed—particularly the extreme fatigue, bloating, neurological-psychiatric symptoms like depression and anxiety, and even the skin manifestations like facial flushing—are all well-documented in research on NCGS. It's important to know that you are not alone in experiencing this specific combination of physical and emotional reactions. The only way to know for sure is to commit to a strict, 100% gluten-free diet under the guidance of a doctor or dietitian for a period of several weeks to see if your symptoms significantly improve. It is also crucial to rule out other potential causes, so discussing these symptoms with a gastroenterologist is a very important next step.
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.