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- Fri Nov 07, 2008 12:35 pm
C is a 12-year-old girl who was diagnosed with ITP at the age of two. Her platelet level dropped to a count of three during this time and although steroids and transfusion were muted, no treatment was given and her platelet level recovered to normal within a year. Other than some severe earaches and catarrh related issues, ear, nose and throat complaints between the ages of one and five, she was a fit and healthy child requiring no treatments or medical attention.
During the beginning of 2005 C developed an extended high temperature 10 + days with aching pain in her bones and a headache.
Following this attack C appeared to make a recovery and displayed no symptoms until eighteen months later.
Since then C has suffered with the following symptoms which reoccur approximately every month and very in severity and duration from light symptoms lasting a couple of days to extended high temperatures and multiple symptoms lasting up to three weeks.
This is a list of the symptoms that C displays during her ‘relapses’’
Swollen throat glands and severe sore throat, Fatigue (Sometimes chronic), fevers, muscle pain, aching joints, headaches, night sweats, stomach aches, sensitized skin, eyes sensitive to light, cold hands and feet.
6 months ago a blood related cousin developed chicken pox which turned into very severe hemorrhagic Chicken pox and she was very fortunate to survive. The illness took 2 months and with heavy medical intervention she is now completely healthy.
C has been to various doctors and had a variety of blood tests covering liver and kidney functions, lupus, red blood cells
I have requested printouts of these tests I would like to know what we can do next to try and get a diagnosis. I am now in the process of getting her tested for Lymes
Any help much appreciated
| John Kenyon, CNA
- Sat Dec 06, 2008 9:25 pm
Testing for Lyme disease would make sense, given the symptoms. Also, since there is little to go on (no labs, no doctor's impression) one could make a number of guesses. Rather than do that, I'd like to see the lab results. Please follow up with us here once they are available and we'll see if this makes any more sense in some sort of medical context. There are just too many possibilities as it is right now.
We'll be waiting to hear back from you.
- Sun Dec 07, 2008 5:48 am
Below is the complete list of tests that were done at the same time and we will receive all the results at the next consult on the 29th
Doctors seem very keen to diagnose CFS (chronic fatigue syndrome) and if the results of these tests return negative we will have to fight hard for further testing rather than a generic (not much we can do) diagnosis.
I have already pushed very hard just to get the lymes tested despite the fact she has travelled to several hot spots both in Europe and the US.
In your professional opinion (without knowing full details) are there any major tests that you might have liked to have seen on this list?
Seeing my little girl stuck with needles is heartbreaking ,but resigning to the opinion that this is a chronic condition means she will continue to miss out on an education and the chances in life that brings.
CMV Total Antibody by PPA
EBV Viral Load
EBV VCA lgG Antibody
C3, C4 Complement
Full blood count (FBC) with WBC Differential
Erythrocyte Sedimentation Rate (ESR)
Autoantibody screen Does not include anti nuclear abs
C3, C4 complement
| John Kenyon, CNA
- Sun Dec 07, 2008 12:58 pm
The list of lab tests is pretty exhaustive, and normally should expose the culprit agent. If C's doctors seem to carry a prejudice in favor of CFS this could possibly blur the distinction between that (a controversial finding) and Epstein-Barr virus, which is being looked for in the tests. One might hope EBV actually does come up positive, as it is a manageable, if sometimes difficult, infection which can go into long-term or even more or less permanent remission.
The one thing I think perhaps should be looked for is T-cell immunodeficiency, which can be part of an odd cycle of undernutrition leading to T-cell disability, increased vulnerability to infections, etc., cyclically. This is rare in the United States but not unheard of. What might seem improbable about it (and may well be) is the potential for undernutrition in an otherwise healthy American child. However, there is sometimes a heritable defect causing some other relatively minor problem which can lead into this cycle of undernutrition (such as colitis or celiac disease: The former should be ruled out by ANA testing; there is a specific test for the latter).
While celiac disease, by itself, wouldn't fit the profile of relapsing chronic viral disease, it could be an underlying cause and should be ruled out so long as all a lot of testing is being done now anyway. This would also be a relatively simple-to-manage problem, and while it is a long shot, most everything else is being covered.
Once you've received the results of the labs listed (a pretty exhaustive battery), we can look at the results and, if there is something which jumps out, that can be addressed. If not, I can refer this matter to the appropriate diagnostic team for further study here. First, though, let's see if this comprehensive battery of tests shows up something (it's not going to give anyone a result of CFS, which would be a default or "we don't really know" diagnosis). It would seem very odd for someone as young as C to have profound CFS symptoms, and the fevers and certain other symptoms just don't fit that. They do fit both EBV and a few other viral illnesses, as well as several immune-compromising ones that these tests should expose (if any are present).
Best of luck to you. I wish there were more I could suggest, but the important thing now is to see what the long list of labs yields first. Again, T-cells and celiac are the only two things I don't see covered directly in the list. These would be long reaches, but if nothing else comes up these could and should be covered.
Best of luck to you and to C with this ordeal. Hopefully soon you'll have an answer. Please update us when you do.
- Sun Dec 07, 2008 3:37 pm
Many thanks for your intelligent, comprehensive and timely response.
Added your suggestions of both celiac and T-cell testing to our list of next round contenders, in the event that this first bout produces no clear results.
Very relieved to hear that CFS is not an 'obvious' direct map for her symptoms.
I will of course update this post as soon as her results become available.
Once again thanks for the excellent advice.
M,B,C & L
- Tue Dec 30, 2008 7:54 am
As promised a brief update on C's medical saga.
We got the last batch of test results yesterday 29thDec08 and she has a strong test result for mycoplasma antibodies
This serum test was for Mycoplasma Pneumoniae by PPA, procedure name PARG and the result was 1:640
She has been proscribed a 2 week course of Clarithromycin (Biaxin).
Obviously she will be following this course of medication and we will keep our fingers crossed that a cycle of re-infection has been the culprit of her symptoms all along.
Please let us know if there is anything else we should bear in mind as this all seems a little too good to be true.
Ps I wasn't born a cynic, it takes practice to get like this.