Discussions By Condition: I cannot get a diagnosis.

sick undiagnosised child

Posted In: I cannot get a diagnosis. 11 Replies
  • Posted By: margie0
  • June 1, 2007
  • 02:02 PM

I am posting this because I need a new direction to go. My 10 yo son was dx with acute onset of very unusual cataracts that left him legally blind.Ikept out of school while we waited for his surgery, about 1 1/2 mos. over that course of time he developed sharp severe sudden bilateral ear pain with ringing and spinning,multiple pains all over legs arms back. that are unexplainable. they come and go. have been to multiple specialists and still have no answer. he had his cataracts repaired and is doing ok with bifocals. the pain although not as severe as it was, is still happening. This has been going on since oct 06. He is sick of being sick , and seeing drs. any advise would hepl. thanks

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11 Replies:

  • I just want you to know that I am thinking of you. A good freind of mine had a baby who got cataracts at 8 weeks. It went from cataracts to the muscles, etc. It was some kind of genetic disorder but they never did figure out what it was exactly. Hopefully you will see a specialist children's hospital. They went to several and never could find an answer (sometimes you don't because their are rare problems out there). Has your child been tested for being diabetic? I am not a doctor. Just wanted you to know that people are listening and are concerned.
    Anonymous 42789 Replies Flag this Response
  • Re; ear ringing and spinning. Look up Benign Positional Vertigo.
    rad-skw 1605 Replies Flag this Response
  • you should go see this suergeon, she works out of Long Island College Hospital in brooklyn, if anyone can help your son beleive me she can. Her name is Dr.Velcek, and you can contact her through Long Island College Hospital in Brooklyn ny.
    Anonymous 42789 Replies
    • October 11, 2007
    • 01:42 AM
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  • Absolutely ask to go see a geneticist. Best wishes.
    aquila 1263 Replies
    • October 15, 2007
    • 07:57 PM
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  • Does he have any other symptoms? How are his eating habits? Does he have any GI problems such as diarrhea?I have a daughter with a genetic disorder that causes sudden onset juvenile cataracts. She has had no pain but I can't say that it's not a possibility.Please get back to me asap.-John
    John_Wolf 8 Replies
    • December 18, 2007
    • 00:30 AM
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  • John, yes he has gerd he is on nexium 2x a day.his eating habits are poor. i think because he is nauseous alot, so he eats small amounts all day.he had some blood work done a couple of months ago with results that the dr found hard to explaiin, he is going to send us to a metabolic specialist.We also found out he is allergic to all the enviornmental allergens he was tested for. the dr recommended not testing for food allergies. he also recommendedthe shots. however i am not doing anything until we have a better understanding of what is going on.we have no family hx my husband was adopted. Do you mind me asking for a little information about your daughters condition? maybe we can help each other.It is very difficult to watch a child suffer and not be able to help. Marge
    margie0 3 Replies
    • December 18, 2007
    • 05:16 PM
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  • Hi Marge,My daughter has what is called Cerebrotendinous Xanthomatosis(CTX). It's an autosomal recessive genetic disorder that is in the family of Leukodystrophies. Two key identifying symptoms of CTX are chronic diarrhea and sudden onset juvenile cataracts. The cataracts are quite unusual in physiology as compared to other common types of cataracts. CTX patients are also often diagnosed with behavioral disorders that range from being diagnosed autistic with aspergers or as bi-polar.My didn't have any GERD symptoms, in fact she was opposite, she ate constantly and barely maintained a thin weight. There is still much to learn about her disorder though as the genotype/phenotype correlations are not completely understood. I have a wide variation with individuals with her disorder in symptoms from age and severity of onset. My wife and I have dedicated ourselves to raising awareness of this disorder as it's very rare with numbers on the magnitude of 1 in 6 million individuals known diagnosed in the US. I say known diagnosed because even though the symptoms are fairly readily identifiable, we firmly believe that many patients go undiagnosed or are diagnosed late in life. If you'd like to learn more about this disorder, I have designed and developed a website for information about the disorder the address is http://www.ctxinfo.org. Also as part of our effort we filmed an segment for the show Mystery Diagnosis in February of this year. If you have a high speed internet connection, you can view the segment by clicking here : http://www.ctxinfo.org/MDPlease let me know if you have any more questions.-John
    John_Wolf 8 Replies
    • December 18, 2007
    • 11:05 PM
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  • Marge,Send me an e-mail john@ctxinfo.org. I made a post here yesterday but it didn't show up for some reason.-JOhn
    John_Wolf 8 Replies
    • December 19, 2007
    • 04:02 PM
    • 0
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  • Hi. I am sorry to hear about your child. It sounds like this is a complex case, and I can understand your frustrations. With the information that you have provided, I can offer a few comments.Because your son has bilateral ear pain associated with dizziness and nausea, it is less likely that the condition would be caused by benign positional vertigo as a previous poster suggested. An earlier poster also gave information about a rare genetic disease, with possible presentation like that of your son. Given then constellation of symptoms, specifically bilateral pediatric cataracts and bilateral ear pain w/ compaints of joint pain and neurologic symptoms, if I were your doctor, I would-rule out ear pathology- meaning rule out chronic ear infection, rule out skull base pathology (b/l acoustic neuroma), r/o craniopharyngiomar/o-juvenile arthropathiesmetabolic consultconsider- genetics consultconsider- neuro consultThere are many genetic and metabolic syndromes that have relatively late onset (10 yrs old) and would affect multiple body systems, and they are all very rare, and no one to be concerned about at this point. Your physician is following the most prudent course in making the metabolic consult.
    fewd4thought 126 Replies
    • December 21, 2007
    • 04:52 AM
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  • Thank you so much for this most recent information. My pediatrician is going to schedule blood work to r/o ctx. However it may not lead anywhere. I am goint to update the testing my son has had this past year. genetics consult hypomineralization of molars, l ear skin tag, 2 diff color eyes. cataracts , may be genetic or metabolic in nature follow up with neuro/ and peds. ct and mri w & w/o contrast of brain neg mri w contrast of sinuses ? myringitis (possibly contrast) ent consult abnormal vmg/ recc neuro consult mri of inner ear neg.allergy skin testinsg for enviornmental allergies + to all ,recc shots x ray of foot for pain with no injury neg rhumatology consult sed rate slightly elevated doesn't feel this is a problem.no swelling of joints ect. gastro consult for chronic chough edg with ph probe = severe reflux nexium 40 in the am 20mg pm. neuro consult poss learning disability chronic headaches poss migranes blood screening many abnormalities ( I THINK ONLY SLIGHTLY) recc metabolic consult some of the blood work i am aware of is l wbc, h platelets, h esr,h alk phos. pulomonology ? mild asthma = proventil prn alavert 10 mg/ day for allergies At this point John feels pretty good no ear pain or spinning for several months. occ back pain, chest pain.still has headaches nausea at times ,he takes tylenol or motrin for. Seems disorganized all the time.Although i know he picked up the habit of lying about feeling sick, Ihave just one more question ,if the testing for ctx comes back neg. Is there any other screening that can be done to point us in the right direction? Thank you for your concern ,marge
    margie0 3 Replies
    • December 21, 2007
    • 01:39 PM
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  • well it has been over a year since i posted looking for help.It looks as though it is not ctx.My son is now 12 and still having periodic flair up of his symptomms. currently, he is having headaches, nausea, diarrhea, ringing in ears/ spinning.In may of this year my older son 15 started complaining of headaches. dx sinus infection rx biaxin.symptoms included ringing in ears spinning falling nausea.Seen by ent and to my suprise they both have the same unusal results to one of their tests involving the balance portion of the nerve. also my older son's mri showed a ? granuloma of the petrous apex repeat mri in 6 mo's. The ent dr feels that what ever the boys have that it is probably genetic in nature.my pEDIATRICIAN REQUESTED TO TAKE MY BOY'S TO A SpECIALTY HOSP(JOHN HOPKINS , MAYO OR PHILLY) my insurance co won't approve my older sons visit, Hasn't seen enough specialists yet and i have been wairting for approval for my younger son since the end of July.i don't run them back and forth to the dr every time they have symptoms,but waiting for an answer is hard while watching them have symptoms.( it is not bpv) any help would be appreciated
    margie0 3 Replies
    • September 18, 2008
    • 05:17 PM
    • 0
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