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son undiagnosed
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son undiagnosed

I have a 2 year old son who has been to every specialist there is and the only thing they have come up with is a recent EBV infection.He has been having periods of high fevers since June 28.and then low grade fevers of 99.4F-100.4F in between those.when he has even the low fever he is not eating well and laying around with very low energy.He has some days where he doesn't have a fever at all and will be around 97.9F-98.6F.He does have aortic stenosis and an abnormal mitral valve.We have been to the cardiologist and they have said that his heart is fine and the fevers have nothing to do with his heart.Another interesting thing is that his lymphocyte count will be 69 and the neutrophil will be 21.The doctors have told me that they should balance each other out.In other words those numbers should be 50/50.They cannot tell me why there is such a huge difference in those numbers.When he has the really high fevers his crp and esr will be slightly elevated.He always has negative blood cultures too. Please if you have any suggestions please could you help us.Concerened parents.
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Avatar_dr_f_tn
Hi,
How is your son? Does he still feel the symptoms you've mentioned? Fever of unknown origin (FUO), is a diagnosis of exclusion, that is, by eliminating all possibilities until only one explanation remains, and taking this as the correct one. A complete medical history, repeated physical examination and a lot of laboratory tests are needed in finding the cause. A referral to a training hospital which specializes in such cases may also be helpful. Take care and do keep us posted.
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Avatar_f_tn
Hi,
Has he had his immune function tested?  If his immune system isn't working right, the EBV could be sticking around and periodically making him sick.  

Also a cousin of mine has a disease called Periodic Fever Syndrome - here's a link to info http://my.clevelandclinic.org/disorders/periodic_fever_syndrome/rheumatology_overview.aspx

Good luck,
E
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999780_tn?1263675571
Hello there
Yes he has had the immunoglobulin panel done and all is well in that area.He also had a lymphocytic panel done too.
I really dont understand when they tell me his immune system is well but he keeps getting sick.He has not had another high fever attack since November.he had strep in Dec.What really puzzles me is the slight fever that he runs every day.It goes from 99.6F to 100.4F sometimes.I know that is not considered a  high fever for the drs but then why on some days is he 97.9F-98.6F which is considered normal. On the days that his fever is there he is crabby and miserable.Since December he is not drinking milk either.He wont take it at all.Only water and juice.We even tried flavoring the milk.He was having Ovaltine in his milk as we thought that he needed the extra vitamins to help him.
When we went to the Rhumetologist they ruled out all the periodic-fever syndromes as he was having 2 maybe 3 cyles in a month. There was a period of time when he was having them on the 26 of every month.My thinking on that was the he does have periodic fever syndrome and the EBV was keeping him with the low grade fevers in between.But the ID dr told us that EBV will on be there for a week like a reg. virus and then go away. His nuetrophils are still on the low side but they said that it will only be of concern if he were to get another fever episode. Our next big hurdle is his cardiac app in april. Thanks for your concern and thoughts.
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Avatar_f_tn
Hi,
First, I think periodic fever syndrome sounds like what he has....maybe you could find a specialist, not just a general rheumatologist?  That way you could rule it out for sure.  I know that the National Organization for Rare Disorders has a program where they can match you with a specialist in these rare diseases.

Second, there are immune diseases that cannot be diagnosed just by having an immunoglobulin panel done.  Some immune diseases are even present when immunoglobulin levels are high.  The one that I have, CVID, is one of the ones that can't be diagnosed with a regular immune panel - that's why it took me so long to get diagnosed (21 years) - I kept having 'normal' immune panel results.  To diagnose me, they had to give me the pneumonia vaccine, wait a week, then take a blood sample to see if I produced any antibodies, which I did not.  Also, I have EBV spikes all the time.

If you are really worried about an immune issue, I think you should find an immunologist associated with the Immune Deficiency Foundation.  They know what to look for.

E
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999780_tn?1263675571
I really appreciate you writing back.That is one of the specialist that we have not seen.But the ID dr did say that if he were to have another high episode then we are to bring him in immediately and they will assess him from head to toe.For now we are enjoying the time that he is well as we had a really rough year last year.He also has a heart condition and that is why I am concerned. If you dont mind me asking what were your symptoms.Did they come and go. As I said he has been fever free since Dec. My husband thinks that I worry too much and maybe I do but I know when he is not well. Thanks again.
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Avatar_f_tn
My symptoms did come and go, and sometimes I had some symptoms but not others, and quite a few times I was accused of being a worry-wart or hypochondriac until I met my current doctor.  He said that immune diseases are so rare (less than 6,000 people in the US have my particular disease) and so tricky to diagnose that most docs just don't know what to look for and so when they find nothing, they assume it's a problem with you mentally....unfortunately this results in severe illnesses, cancers, and even deaths that could have been prevented.  That's why the Immune Deficiency Foundation is starting a new program to educate physicians and the public.

You can go here:

http://www.primaryimmune.org/publications/book_diag/IDFDiagnosticandClinicalCareGuidelines_2ndEdition.pdf

to download a packet for your primary care doctor that gives all of the symptoms, guidelines, and tests that need to be done to determine if there is an immune disorder present - including the vaccine antibody test that was performed on me that can diagnose immune diseases that are present despite regular or high immunoglobulin levels.

Anyway my symptoms included: chronic EBV (mono), frequent and severe infections (usually upper respiratory - sinusitis, bronchitis, etc. - but sometimes intestinal and urinary tract), joint pain, severe fatigue, fevers (usually low grade), eczema, headaches, insomnia, hair loss, loss of appetite, frequent lymph node swelling, muscle stiffness, strabismus (eye muscle problem), and low back muscle spasms.

There are literally dozens of symptoms associated with each immune disorder, so I think you should go to the IDF webpage and read about each one, www.primaryimmune.org.

I would also suggest going through the IDF to find an immunologist or have your doctor use their free consultation program, where an IDF immunologist consults with your doctor for free to give diagnostic advice and a second opinion.
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999780_tn?1263675571
Thanks so much for all this info.The reason they thought it was all in my head was because his only symptom was fevers and nothing else.He has a small lymph node on the side of his neck which I do worry about but they keep blowing me off and telling me that it is only worrisome if its red or gets bigger but it has only been there since he started all the fevers.
He never has the mono symptoms but tested positive for the anitbody tests and that is how they diagnosed EBV.
he also does have eczema over most of his body but you can only see it in the light and no dr takes me seriously about it.I can see it and feel it but apparently no-one else.He has just been through a period when he didn't want to eat and only drank.I had him tested for diabetes and that was negative.I couldn't believe the amounts of fluid he was drinking.he did loose a pound and a half but again dr not concerned.
I will definitely visit that page you sent me. Thanks again and I will keep you posted.Thanks for listening.It seems like many people are done with me and my son.
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999780_tn?1263675571
Another thing is he looks and acts fine most of the time.so when he does go to these various drs they think he is fine.But my husband and I are done with hearing that he looks fine cause they told us he was fine and then he almost died a week later.He ended up having 2 heart surgeries one at 8 weeks and another at 3 months old. so we really have little faith in drs right now.I am concerned that they will miss something and then later on it becomes an emergency and with his heart he cannot handle an emergency like that.
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Avatar_f_tn
I can sympathize with what you are going through, I was always just blown off or ignored when doctors couldn't figure it out - for 21 years!!!!  I must have seen a hundred doctors and had many thousands of dollars worth of tests done, that of course all came back normal.  I even went to see a psychologist to make sure I wasn't a hypochondriac, bipolar, or just insane.  

It was hard for me but I think it was harder on my parents.  I don't have kids yet, but I can imagine the fear and frustration of not being able to convince someone to help your child when you KNOW something is wrong.  There are even public service announcements that have been on TV a few times that show a mom trying to convince a doctor that something is wrong with her child (from the Jeffrey Modell Foundation: http://www.info4pi.org/picampaign/index.cfm?section=campaign&TrkId=26&CFID=36871470&CFTOKEN=16020115#) so you are not the only one going through this.  The JM Foundation is a good site too, lots of info.

You are right that it doesn't help when immune diseases and other rare disorders are 'invisible illnesses' where you look healthy but you aren't.  There's a book and website called "But You Don't Look Sick!" that talks about how to deal with that.

If you can't get a doctor to listen to you or if you can't find an immunologist in your area, I can give you the contact info for mine.  He's in GA, but he consults on cases all over the country since he's an expert.  He is really great and won't give up until he gets an answer, and he truly cares about his patients.  2 years ago I was in the hospital to have an ovary and cyst removed, not remotely related to my immune disease, and he came and visited me every day I was there (8 days).

Feel free to email me, erin.***@**** if you need to talk or anything.

E
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