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Mystery Diagnosis (Long Story)

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Posted 08 May 2012 - 05:56 AM

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.
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Posted 08 May 2012 - 06:20 AM

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.
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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)

celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom

Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)



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Posted 09 May 2012 - 08:36 AM

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.
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Posted 09 May 2012 - 08:52 AM

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.
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Apparently there is nothing that cannot happen today. ~ Mark Twain

Probable Endometriosis, in remission from childbirth since 2002.
Hashimoto's DX 2005.
Gluten-Free since 6/2011.
DH (and therefore Celiac) dx from ND
Responsive to iodine withdrawal for DH (see quote, above).

Genetic tests reveal half DQ2, half DQ8 - I'm a weird bird!



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Posted 09 May 2012 - 09:38 AM

What exactly is the cause of protein in your urine?
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gluten-gree as of May 9, 2012



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Posted 09 May 2012 - 10:03 AM

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!
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Posted 09 May 2012 - 11:41 AM

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. :)
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Posted 10 May 2012 - 03:36 PM

Thank you
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