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  • Help 14 yo daughter still undiagnosed!

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    Old 09-22-2016, 10:21 PM   #1
    Slev21
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    Help 14 yo daughter still undiagnosed!

    My 14 y/o has had symptoms off and on for about 5 years it seemed to start with a injury to her wrist about 4-6 months later started joint pain and locking burning sensations left her often on crutches then disappeared for 1.5 years then broke her wrist and a few months later ovarian cysts and major pain in abdomen then weakness numbness tingling burning muscles sometimes freezing cold muscles one time she even said it felt like water running down her legs then trouble breathing and chest pain then paralysis and seizures. She recently has suffered severe debilitating fatigue and sharp instant intense pains in different areas sensitive to light and sound eye pain and ear pain. Also nauseous every morning for past 3 weeks and other issues such as insomnia, dry mouth, and now has a sore in her mouth, dizziness, almost passing out. She is starting now to have abdominal and rib pain. Last two days had a rash on her arm that comes and goes. These symptoms come and go so we have been to ER, urgent cares, rheumatologist, cardiologist, neurologist and all said tests were negative. For 2 weeks she could not get out of bed and said her body just was in so much pain. She was a straight A student who loved school and was always talking about what 2 colleges she wanted to attend. She was a social butterfly who had so many friends, our house was like a revolving door of a multitude of friends. Since the 2 week episode of not getting out of bed, she has changed. She told me that she would rather be in independent studies because the little energy she does have, she does not want to waste it going up and down stairs at school. She said she wanted to spend those precious rare moments with the family. Recent tests have so far come back negative and the doctor does not feel she needs to test for Nutritional deficiencies, hormones, mold (it was found in a house we lived in for 5 years and just moved, not sure what kind) or Lyme.
    I want to make sure that I am ordering other tests from good places because I feel like all these doctors are not helping at all. I do not have a lot of money and not sure where I am going to get around $2,000 (1,979) for all the tests I have to order from a supposed great Lyme Lab. Also heard about a great Thyroid/Hormones Test and Nutritional Testing $ 1,300

    I would like to know if anyone is having similar symptoms and if you think I need to get all these tests done. Also my daughter came up positive ANA 4 years ago and took again 1 month later and same positive ANA. Sent to Rheumatologist and the ANA came back negative and so did all the other tests the RM conducted. So they diagnosed her with Arthralgia (joint pain)!

    Last edited by Slev21; 09-23-2016 at 10:24 PM. Reason: Because I was not supposed to put lab results

     
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    Old 09-23-2016, 05:31 AM   #2
    VeeJ
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    Re: Help 14 yo daughter still undiagnosed!

    Hello and welcome. I'm sorry to read about your daughter. I'm just a patient, of course, but from what I've read, when the "obvious" tests come back negative in kids as young as she is, that can point to Juvenile Rheumatoid Arthritis (JRA). I think it's the most common rheumatic condition in her age bracket, btw. What's especially difficult about JRA: it's a diagnosis of exclusion. QUESTION: you mention an arm rash that came & went over several days. Was it salmon colored? I ask because I saw mention of salmon colored rashes in articles about JRA.

    There are quite a few rashes seen often in lupus, too. Each has its own name & characteristics---meaning they aren't "just any old rash".

    Another question: when her ANA tested as positive, how high was it? ANA can rise and fall, I think, as flares come and go, so trapping it is akin to hitting a moving target. One of my doctors says in the flare/recede conditions, it's best to raw blood when a flare is "on the rise".

    Hope this helps a bit. Looking forward to hearing more. Sending warm wishes!

     
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    Old 09-23-2016, 01:30 PM   #3
    Slev21
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    Re: Help 14 yo daughter still undiagnosed!

    Thank you so much for the response. The rash was not a salmon color it looked like just a regular rash but went away as fast as it showed up. She has had them in different areas on her arms. When she saw rheumatologist she said she did not have JRA.I am not sure how high her ANA was because back then I was incompetent and did not even ask for the results. Doctors don't seem to believe that tests sometimes need to be taken during the flare. UGH

     
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    Old 09-23-2016, 02:37 PM   #4
    VeeJ
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    Re: Help 14 yo daughter still undiagnosed!

    Was there a liver value you cited earlier that was low? I think we're used to seeing HIGH liver values here, so low would be interesting. Offhand there's one condition I've read about---I'm struggling to remember---that features one or more LOW liver values. It's a copper storage problem, whose name I can't remember, in which copper isn't cleared and builds up. I think it's inherited, not acquired---and it's rare.

    Eye pain and light sensitivity may lead somewhere. Has any doctor commented on those?

    And I just realized that you'd cited paralysis and seizures...! Those go way beyond "arthralgia", so I don't see how her doctors stopped there.

    Are the specialists you've seen affiliated with a teaching hospital? Doctors in teaching hospitals see a LOT, including rarer conditions. and unusual presentations. Also, they're more likely to think on the tests that haven't been run. For example, adrenal and parathyroid conditions are notoriously hard to diagnose, relatively rare, and the tests are expensive "extra's" that aren't ever run unless some very wise doctor realizes they're needed.

    Also, more common conditions can have unusual presentations. Lupus, for example. Lupus loves female hormone fluctuations and rear up in early adolescence. While ANA is positive in something like 95% to 98% of patients, that leaves a small percent in which ANA remains resolutely negative. I fell through this crack myself. My local doctors probably ran ANA's for years on me; but finding it negative, they stopped cold & assumed that I couldn't possibly have lupus. Wrong. Finally I started getting photo-induced rashes, so I took myself to a teaching hospital rheum. He quickly sized me up as likely to be in the tiny "subset" positive for anti-Ro but ANA-negative.

    So that's where my mind goes on this: finding better doctors, rather than ordering tests on your own from unknown labs who MAYBE would come up with valid results (and maybe NOT), then wouldn't even be able to treat her---you'd still need a doctor to "buy in". Looking forward to hearing more, Vee

     
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    Old 09-23-2016, 09:09 PM   #5
    Slev21
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    Re: Help 14 yo daughter still undiagnosed!

    Thank you Vee. Her BUN test was low which after research I found it could mean liver disease or damage. Also her ALK PHOSPHATASE was really really low. Research shows maybe parathyroid gland issues, vitamin deficiency, celiac disease, genetic disease, and a few other things. When I first took her to the Rheumatologist she was in Loma Linda about 4 years ago and my daughter only had joint pain and locking. All the other issues showed up later. I was a little frustrating because when her seizures first started in June 2016, I took her to Loma Linda Childrens Hospital and the hooked her up to the EEG for 3 days and took readings on 5 of her seizures. I tried to tell him about all her other issues and the doctor said she is in here for seizures now and that is what we are focusing on. He is a well known amazing doctor, but I was a little disappointed that he would not take her history on other issues. Well results said they were "pseudo seizures." and all from a traumatic event that her subconscious was playing out on her body. He referred her to therapy and sent her home. I said what the heck do I do now?? Are you serious?? Really? In her head??Wow, I was speechless. I do not believe this and will not stop trying until I can get a doctor who really cares and can figure this out. Completely disappointed in the medical care these days.

     
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    Old 09-24-2016, 04:46 AM   #6
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    Re: Help 14 yo daughter still undiagnosed!

    Good morning. I'd definitely follow though with more questions about ALK Phosphatase. Looking at the list of things you've read about, looks to me like ALL would require further evaluation and special tests, depending on which ones actually comport with her symptoms & history, of course. If her current doctors have stopped cold, you need to get things moving again. And instead of settling for tests you order yourself, I hope you ramp up to a different set of doctors. That's just me speaking, of course, and I'm only a dumb patient... But having been dx'ed with a less-common "subset" of lupus, after literally DECADES of seeking help, I was astonished (and appalled) to realize how much doctors vary in their diagnostic skills. If this is something less common or rare, you need to find "an artiste". Please keep us posted, OK? Hugs, Vee

     
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    Old 09-24-2016, 08:44 AM   #7
    Slev21
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    Re: Help 14 yo daughter still undiagnosed!

    Will do and thanks again

     
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    Old 09-26-2016, 08:01 AM   #8
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    Re: Help 14 yo daughter still undiagnosed!

    Quote:
    Originally Posted by Slevine121 View Post
    Thank you Vee. Her BUN test was low which after research I found it could mean liver disease or damage. Also her ALK PHOSPHATASE was really really low. Research shows maybe parathyroid gland issues, vitamin deficiency, celiac disease, genetic disease, and a few other things. When I first took her to the Rheumatologist she was in Loma Linda about 4 years ago and my daughter only had joint pain and locking. All the other issues showed up later. I was a little frustrating because when her seizures first started in June 2016, I took her to Loma Linda Childrens Hospital and the hooked her up to the EEG for 3 days and took readings on 5 of her seizures. I tried to tell him about all her other issues and the doctor said she is in here for seizures now and that is what we are focusing on. He is a well known amazing doctor, but I was a little disappointed that he would not take her history on other issues. Well results said they were "pseudo seizures." and all from a traumatic event that her subconscious was playing out on her body. He referred her to therapy and sent her home. I said what the heck do I do now?? Are you serious?? Really? In her head??Wow, I was speechless. I do not believe this and will not stop trying until I can get a doctor who really cares and can figure this out. Completely disappointed in the medical care these days.
    I think the low alk phosphate is more likely bone related. I would have her checked for vitamin D deficiency, hypoparathyroidism, (serum PTH),
    serum calcium and phosphate. Kids during puberty can develop Rickets if they are vit D deficient or low in parathyroid hormone. Vit D deficiency is very common in lupus. Calcium deficiency can cause seizures and so can lupus, so all of this is likely related. A rash biopsy with lupus band test may be very helpful in evaluating her overall illness, done by a dermatologist. The lupus band test is critical so don't accept a biopsy without it. Wilsons disease is the copper storage disease Vee mentioned, but I would focus on the rheumatology disorders. Her level of fatigue is pronounced from her description (sounds like mine��). I agree with Vee on looking for a teaching (university) clinic to get a diagnosis so she can get treated asap

     
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    Old 09-26-2016, 09:06 AM   #9
    Slev21
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    Re: Help 14 yo daughter still undiagnosed!

    Thank you to everyone so so very very much. She has only had a slight rash 3x and so far they have only been at night and they are gone. By the next morning. I am suppositing that the rash would have to be present to do a biopsy so in would have to wait until she has one during the day?

     
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    Old 03-11-2017, 09:53 AM   #10
    Stephanie3116
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    Re: Help 14 yo daughter still undiagnosed!

    Any update on your daughter's diagnosis yet?

     
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    Old 11-21-2017, 02:17 AM   #11
    Slev21
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    Re: Help 14 yo daughter still undiagnosed!

    Hello there
    I have been to over 15 more doctors and we did get a diagnosis about 1 year ago. She has Lyme disease. It has gotten much worse and we have tried several treatments. She is good for 4 days then bad for 20+.

     
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