Help about diagnosis

Dear friends,
I'm a new member of your site and I want to say that I really like it and appreciate your willingness to share your experience and to help each other.
I'm a mother of a 29 months old girl and I suffered a lot last year. In fact I'm not sure me and my child really have sarcoidoses, but I doubt it.The trueth is I live in a small and poor country where the medicine is not highly developed, the doctors don't have experience with rare disease, don't have tests to diagnosed them, don't have modern technics and aren't highly motivated to work probably because of economical reasons. For example tests like ACE and serum Vit.D are not done in my country. Most of the doctors don't even heard about them. The biggest problem for me is that we can't have diagnosis more than year now and it's really a disaster. Last year I visited more than 50 doctors, we had 3 hospitals stays and nothing. The biggest horror is my doubt my daughter can't live long withought antibiotics and I can't give them her in this way withought diagnosis, withought appropirate treatment, prescribed by a specialist.
I know we don't have chance here and we must go somewhere in Western Europe for diagnosis as soon as possible, but where? That's why I kindly ask for your help, for opinion could this be extrapulmonary sarcoidosis. And is the immunity suppressed or elevated /like in autoimunity disorders/ in your disease. Whatever you can say will be helpfull.
I'll describe our history and I'll beg your pardons for the very long describtion and for my bad English.
I 've always been a generally healthy /exept a small stone in the kidney/ person untill 2003 /one year before I got pregnant/. I think the story of our illness began than when after a flu I couldn't recover. During 5-6 months I had intensive night sweats, every day temperature 37.2 C-37.7 C, sudden blushes, muscle and joint pain, nose discomfort and secretions, ressembled allergic rinithis, a limph node on the neck, pale face with dark cirkles under the eyes, swelling of the outlet of the salivary gland in the mouth (one of the very first sympthoms), which stayed for 5-6 months. I made tests for many viruses, parasites, tuberculosis - all negative. Microbiology of the nose secretions was normal. Autoimmunity disorders were rejected. My blood tests were normal, the only indicator of inflammation was in plt 450-500. I hadn't cough but the X-ray of my lung looked strange. There were doubts about intersticial pneumonia. I took withought result 5 antibiotics - Cefalexin and Duracef for the flu, Rodogyl for the nose sympthoms, Doxicyclin, Zinat and Klacid for suspected pneumonia. At the end I had a tooth extraction because of suspected tooth granulomas. The result was higher temperature (38.0 C-38.5 C) because of possible new infection and treatment with Cyprofloxacin. Seeing the doctors could't work out a diagnosis, I decided to leave them, to stop measuring temperature and go on a long holiday. Then returned to work and with the time I got better and completely healthy again. Comletely exept my nose problems and appeared lips and mouth ulcers, but I didn't turn much attention.
My daughter was born in October 2004. She was a big and healthy baby, but on the third day after her birth (after BCG vacsination) I noticed she had nose discomfort and secretions just like me. This nose discomfort have always been a serious problem. Microbiology of the nose secretion has always been normal, Ig E for allergy too, the specialists have said she has inflammation in the nose mucosa.
When my daughter was nearly 1 years old, one month after a virus infection I've noticed one occipital big lymph node. The next 4-5 months I saw she had temperature of 37.1-37.2 C every day at lunch and intensive night sweats.
In February 2006 my daughter again had a flu and she couldn't recover. The permanent symptoms were of low fever (up to 37.7 degrees), night sweats, new swollen and painfil lymph nodes behind the ears, 5-6 months later limph nodes on the body too - under the armpit and legs, swelling of the outlet of the salivary gland /may be the first or one of the very first symptoms when she looked healthy/, pale face and dark circles under the eyes, mouth and lips ulcers. Since May 2006 she has very often strange feces like diarrhoea. Since September 2006, she has had symptoms affecting the eyes (something like conjuctivitis, pink eyes, feelinf of soap in the eyes) and pain in the joints. She has 2 white spots in her body.
My daughter was treated with Cefzil, Augmentin, Clindamicyn, Sumetrolim and Isoprinosin, they didn't help. I was treated with Doxicyclin for 14 days and it also didn't help.
Since June 2006 I've have no doubt I'm sick from the same disease like my daughter and like me before. The same sympthoms - swelling of the outlet of the salivary gland in the mouth, fever 37.2-37.3 C, muscles and joint aches, a little red throat and ears and sudden face blushes. Two months later the first lymph node on the neck appeared,four-five months later I developed the enlarged lymph nodes behind the ears and also the same strange feces, eye sympthoms, muscles and joint pain. Since October I've developed small lymph nodes not only on the head, but on the body - under the armpit and legs and feeling of the needles (thorns) in my body and in January I felt something like many small knives under my skin and a small hole under the skin appeared and Imissed fat tissue on the same place on my hand. From Junuary I have sometimes feeling of the sunburned skin mostly on the face and hands, the skin of the hands became drier and ruder and I noticed a pink-brown spot. We also often feel the fingers of the hand thick and hard movement especially in the area of the joints. From
August my mother began with the same sympthoms and one different - a pink spot on the skin of her nose. She had more often thickness and hard movement of the hands's fingers.
From this year my husband also has feeling of sunburned skin .
This "strange infection" made us spend the last year in making tests for
many infectious diseases, we investigate Adeno viruses, Enteroviruses and
Coxsackie, EBV, CMV, HIV,Parvovirus B19, HBsAg, HCV, syphilis, Yersinia
Enterocolitica, Brucellosis, Tularemia, Erlichia, Listeria, Leptospirosis,
Micoplasma, Chlamidia psitaci, Chlamidia trahomatis, Toxoplazmosis,
Toxocarosis, Trihinelosis, Ascaridosis, ASLO titers, Q fever, Candida, Aspergilus, "Quantiferon" and TB spot tests for TB but the results were all negative, so the infectionists simply did't know what this could be.There were results concerning my daughter's cellular immunity and NBT test (nitroblue tetrazolim test, which measure fagocytic activity) that were not normal /elevated/ and made two doctors /heamotologists/ doubt it was a very rare chronic granulomatous disease of the childhood. They even convinced me to have same test for myself done because I was probably a carrier. And the results were similar. My NBT result was 46%. Her - 47%.But surprisingly their boss reject the diagnosis without making any test and they said they made a mistake. However, later they refused to fill in a card about her state sent by the family doctor in order to know how to proceed with the child. Than I sent to a professor in a Child Immunodeficiency Center in Berlin, my daughter's tests results. He said my daughter doesn't have primary
immunodeficiency and she is ill from disease that suppressed her cellular
immunity. And said it could be micobacterium infection.
We investigate tuberculosis infection, because my mother and I had had possitive skin test for Micobacterium Bovis (20 mm and 10mm) and they said it could be a cross reaction to another micobacteria. But all the cultures (sputum feces,
urine and blood) were negative. We made a CT scan of the lungs and the abdomen and all were normal.
At the end of December 2006 my daughter was in bad condition, she
completely stopped eating, she had very dark-pale face and a doctor decided to give her for a month drugs for tuberculosis (Rifampin, Etambutol, Isonid) untill we
were waiting for all the results for TB. And she gets much better (but not enough) her face colour improved and she began eating again. My mother took Micobutin for 2 months and also said it helped her and her face colour improved. At the end of January because of problems with the woond caused by the limph node xtraction and because of these unbearable painful "knives" under my skin I took for 10 days Ciprofloxacin and Tubocin. And I get better - I don't have this knives now.
We made PCR and culture of a piece of the limph node - negative for micobacterium. A specialist of patologyc anatomy who saw my limph node told me that I have something that looks like vasculitis, but unknown for him and probably seconday as a result of infection, besause I don't have autoimmunity
disorder (my ANA, ANCA and Anti-Sm/RNP tests are normal).

Here are results of histology made by 3 diferent specialists:
1.Slightly enlarged lymph node with preserved structure. The lymph
follicles and the sinuses are outlined. The cellular composition consists of lymphocytes, scanty plasmocytes and epithelium-like cells. Certain proliferation of blood vessels is witnessed, some of which are with thickened wall. Capillaries are witnessed with hyalinized walls and partially or fully obliterated lumen.
CONCLUSION: The most significant witnessed changes are of the blood
vessels, which gives reasons to consider vasculitis with hialinization of small vessels with no recent inflammatory alteration of the walls. The finding
does not allow for nosological definition of the process.
2. The observed picture in the ready-made preparations and in the
additional sections and the special staining (Perls, van Kosa and Cil-Nilson) gives
ground for evaluation as a reactive process. There is certain restructuring
of the lymph node architectonics with development of many secondary lymph
follicles and considerable monocyte-histiocyte proliferation with expressed
phagocytary activity (haemosiderin, calcium, protein matter, and at some
points-erythrophagia. There is slight hyperplasia of the post-cappilary
venules. Some vessels are with expressed celless sclerosis and resemble
Hasalian bodies. The node capsule is fibrously thickened).
The finding ressemles changes typical for dermatopathic lymphadenitis. It
is desirable to look for deviations in the monocyte-phagocytic system
(immunological and cytological) and if other larger lymph node is
available, second biopsy test should be undertaken.
3. Preserved structure of the lymph node with observed vasculitis.
Affected are small and medium-sized blood vessels. In the special microscopy
staining (Aurin-Rodamin) in these vessels are seen moderate number of objects
shining like micobacteria.

Our test results:
1. suppressed cellular imunity (T-limphocytes and B -liphocytes and CD4/CD8 always more than twice of the normal range),
2. Abnormality the T-limphocytes proliferation /not responding of stimulation with gamma interferon, interleukin and others/
3. Possitive NBT-test for about 9 months /now normal/
4. Twice positive skin test or Micobacterium Bovis
5. Negative blood tests (Quantiferon and TB-spot) for TB.
6. Possitive PPD for Micobacterium Bovis and Micobacterium Tuberculosis.
7. Normal blood tests (exept evaluated PLT - 500).
8. Normal CRP (C-reactive protein).
9. Evaluated levels of circulizing immunity complexes for a long time/now normal/
10. Evaluated CPK and FFAA.
11. Normal CT scan of the lungs and abdomen.
12. Normal immunoglobulines levels.

Our permanent sympthoms are:
1."Needles" (and sometimes small knives) under the skin of the whole body and painful missing fat tissue.
2. Painful lymph nodes on the head (on the neck and behind the ears) and under the armpit and legs.
3. Temperature between 37.2 C- 37.7 C (in me and the child)
4. Pale face and dark cirkles under the eyes
5. Red eyes, feeling of sand in the eyes, watery eyes
6. Problems with nose mucosa and secretions
7. After the 6-th month changes in the friquences and consistancy of feces (often looks like not severe diarrhoea whith small amount of mucus)
8. Gum and lips ulcers
9. Sudden face blushes.
10. Sometimes pain in the joints and bones
11. Sometimes pain in the muscles
12. Sometimes thick fingers of the hands and hard movement in the joint area
13. Dry and sunburned-like skin
14. Pink-brown spot on my hand (from 3 months now) and 2 white spots on the child's body (one of them is not small white area).
15. Pink-violet areas on the skin of the finger's joints on my hands
16. After a month withought antibiotics the child slowly get worse and refuse eating

Thank you, thank you very much,
Diana_Lo

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8 replies. Join the discussion

It sounds as if you have had a fairly extensive work-up. You have not mentioned that they biopsied the enlarged lymph nodes or the sores in your mouth. I would send this letter to Dr. Sharma at this web site. Your letter is very detailed and it is obvious you are very intelligent. I would email this letter to the Mayo Clinic and any other larger hospitals in the US. They may be able to help you from what info you have. You have definitely gone through a lot and know that we are here to help.
Blessings to you and your family. A good Childen"s hospital is St Judes. Christine

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After reading your letter again, I find it interesting that you were better after you went on a holiday. I don't know where you live but it may be environmental. You may have toxins or poisens in your water or air or food. I think if I were you I would get you and your mother and child on another Holiday and see if you don't get better. If you do get better, its just a matter of finding out what is causing the problem. You will have to be the detective and rule out the possible cause. Let me know what you think. Christine

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many of your symptoms are the same as myself and my co-workers who have been exposed to toxic mold. Does your mother live with you? I would move as soon as possible. Also contact Dr. Ritchie C. Shoemaker , Pocomoke, Maryland and share this information.

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Dear Cristine,
Thank you very much for your answer and your willingness to help us. It's obvious you're very kind person, who knows the meaning of the verb " to suffer".
Doctors biopsied my limph node on the neck.
I don't think the problem is environmental, because 10 months ago we changed the flat. And from this time we lived with my parents, because I needed help about the cares for the baby in this situation (7 months ago my mother was healthy or looked healthy). I think it's not environmental reason also because of the fact, that anibiotics works in our case, they really improve our state(especially Rifampicyn) , but don't cure us. That's why I think it must be bacteria, more precisely something like micobacteria, I even doubt about leprae, because of the white spots of my child and because of these many small knives under my skin and associated with them very painfull disappearance of the part of my faty tissue under the skin of the hand. My husband worked in Istambul, Turkey very often the last 6 years and I think he could catch leprae from there. I know it sounds crazy, but why not. And I still have doubts about this "chronic granulomatous disease of the childhood" which is primary immunodeficiency, a genetic defect in the nonspecific immunity sistem which treatment is again Rifampicyn. But most of all I have doubts about sarcoidosis, it could explain our diversity of sympthoms and this long term of the illness and if we suppose that sarcoidosis is caused by unknown micobacteria....? But I don't know how looks the immunity status of the patients with sarcoidosis. I mean T-lymphocites, B-limphocytes, NK, CD4/CD8, proliferation of T-lymphocytes and C3 , C4 complements and immunoglobulines.
Anyway it's an idea to check about the toxic agents.
Thank you very much for your suggestion to send my letter to Dr. Sharma and in Mayo Clinic. Do you think they would need our blood and cellular immunity results. Can I send them to you?

Best regards,
and many many thanks once again,
Diana

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Dear dmcadams,

Thank you for your replay and shared experience.
I don't think the problem is environmental, but anyway I'm going to check it.

Regards,
Diana

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Diana,
My advice also would be for you to send your letter to Dr. Sharma. I know he works with people all over the world. Again as someone has already told you if you can get to the states the best place for treatment for you might be The Mayo Clinic in Minnesota or The Cleveland Clinic in Ohio. And for your daughter there is no better place than St Judes in Tennessee. One of the great thing about St Judes is that there is no charge for treatment if you cannot afford to pay.
But first, get in touch with Dr Sharma and ask for his help.
PLEASE keep in touch with us and let us know what is going on.
God Bless you
Barb

osharma@usc.edu
and sharma@sarcoidosissharma.com
www.sarcoidosissharma.com

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Barb,

Thanks a lot for your advises. I'll try with Dr Sharma. We have new results. My husband is definitely ill and his cellular immunity is just like our, which rulls out the suspected genetic immuno deficiency and defect. That mean we all have one and the same infectious agent, which causes system illness and affects mainly the connective tissue. The big question now for me is is this sarcoidosis or leprae or any other infection? And where to go - Italy or France?

Thanks again,
I'll keep all of you in touch.

God Bless you,
Diana

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Diana, Sounds like you have some good advise so far by sending your letter to Dr. Sharma. Also, it seems that if the doctors are doing all these advanced tests that they would know who to send you to next. I would insist that you get another opinion. Also, if this is infectious, you should report this to local or state health agency that monitors infectious diseases. We certainly wouldn't want other people to get this. You may have to make some loud noises to get your own way but don't stop until you get some answers. Have they checked you for leprosy? Please get your family all involved in getting the answers to these questions.

Blessings,

Christine

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