Can anyone guide us on where to get help for my son?

Hi, I am writing this as our doctors have said they cannot help us, the rheumatologist is not interested in our case.
2.5 years ago my son (14.5yrs old) become very ill with, 12kg weight loss, severe headaches, sore throat, chronic fatigue, joint pain - particularly knees but no obvious inflamation (inflammation), aversion to light. He then developed an undiagnosed rash on his gentials. His ANA was 1:320 homo-speckled pattern. We went to a rheumatologist 2 months later (had to wait for appt). By this time he was some what better after missing over a month of school. He said he was fine and sent us home despite ongoing knee pain. He suffered chronic flu like symptoms for a year on and off with occasional joint pain but no return of rash. 1 year on he had a massive flare up and more bloods were done, he tested positive for Epstein Barr Virus, ANA still the same, neg for anything else, chronic joint pain now in wrists and sometimes chest too + headaches etc but no noticable inflamation (inflammation), chronic fatigue, weak, weight loss of 13 kg (all the weight he had worked to put back on) in 2 months, depression etc. It took 6 months to see the rheumatologist who said he was neg for lupus and arthritic conditions, slight inflamation (inflammation) in knee xray but not remarkable, ring us when or if he has chronic swelling, then we will take an FNA.
Months on, we have been in and out of the doctors, taking fish oils, vitamins, colloidal silver, tried gluten free diet. Exercise, no exercise, hot packs and cold packs on knees with no help. In A&E with chronic chest pain, only to be sent home, occasional hair loss, fatigue etc. Sore throat has ceased, and headaches less often with the joint pain slowly increasing.
He is only on paracetamol + ibuprofen but he had to cease ibuprofen as he is feeling nauseous again at the moment and I can see a full relapse starting again.. With out diagnosis we are in limbo, no support, no treatment plan, no one is interested in helping him. I am

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8 Comments Post a Comment

carolanivey

Jan 26, 2013

Hi there,

Don't give up. Any GOOD rheumatologist will know that there is such a thing called sero-negative rheumatoid arthritis, in which the patient has all the physical symptoms but the blood work shows nothing. A good rheumie will treat your son for RA based on a broad range of evidence, not just blood test results.

Keep looking for a rheumatologist who will listen. Try to find a pediatric rheumie who specializes in autoimmune disorders in children. You don't say where you live, but in the U.S. there is the American College of Rheumatology, which has an online listing of specialists, and the Arthritis Foundation. Your country could have something similar. Good luck!

Nikodicreta

Jan 27, 2013

To: rach303297

Hi rach303297 and welcome to the forum.

Your son, because of the wide symptomology, seems to be suffering from a peculiar type of underlying systemic infectious condition, perhaps something like pathogenic mycoplasma.
The doctor will not be able to find any cause for his illness with ordinary blood and tissue tests, if it is linked to this.
The immune system cannot eradicate it, as it likely evades detection and possibly hiding within the tissues disguised as a normal cell by means of "borrowed' cellular membrane.
The opportunistic nature of these pathogenic infections explains the cycle
of flare ups/relapses and temp. remission/improvement.
Common activators are lowered immunity, stress, other infections like EBV

There are a couple of tests that would indicate the presence of such pathogens.
One of them would be a Blood Volume Test and the other is a 24H Holter ECG Test. There are specific things to look for and if you're interested to pursue this pm me and I'll give you details.
Meanwhile you can try to contact: Dr Les Simpson, Red Blood Cell Research Ltd, 31 Bath Street, Dunedin,; 9001, New Zealand, tel +64; (0)3 471 8540, email rbc.research.***@****.
If he's still doing a specific blood test for pathogenic mycoplasma, that would be great, as he's probably the only one in the world!
I don't have any current information on whether he's still practicing.

You can also try to contact Dr. Garth Nicolson, a MedHelp friend and a regular contributor here in this forum. Just do a search using the forum's search engine on top of the page. He's the world's leading expert (research, dx and treatment) in Mycoplasma, Babesia, Bartonella, Ehrlichia
Borrelia, etc.

The good news now. Should it indeed be one of these infections, there's an
specific antibiotic treatment for it with mainly bactreriostatic action and limited bactericidal action, but adequate to arrest the pathogen long enough, for the immune system to detect and destroy it.
This is a rather lengthy but effective treatment, provided that the immune system is not seriously compromised.

There are very few doctors anywhere, who are trained in this field.
In the US the only ones that deal with these conditions are LLMDs,
who are perhaps risking their careers treating these as chronic conditions,
instead of the recommended protocol(CDC and IDSA -infectious disease society of America) to treat them as acute only. A lot of controversy there.

Please post again or PM me for those tests I mentioned earlier and to ask any questions you may have.
Wishing you and your son well.
Niko

rach303297

Jan 27, 2013

To: carolanivey

Hi Carilanivey,
Thank you for your response. We are in New Zealand. I contacted the Arthritis foundation here for advise and a bit of guidance. We are unable to get any until he is diagnosed I was told although we were told about hot or cold packs on his knees to help with pain etc. We changed GPs 3 times to finally one recommended by a lady whos child has been diagnosed with juvenile arthritis. He said he was unable to help us. We have seen two different Rheumies and the second one spent less than 5 minutes with us then wrote an inaccurate report on my sons symptoms that was forwarded to us, basically saying he couldn't help us. I will persivere and keep an open mind, unfortunately those in the public health system are not going to help. Too many people are going through the health system undiagnosed without treatment, help or hope. I gain strength from your comments though, thank you so much for taking the time to answer my post.

rach303297

Jan 27, 2013

To: Nikodicreta

Hi Nikodireta,
I am really grateful for your reply to my post. Please do send me the details for these tests. I will try and contact Dr Les Simpson and will properly detail my sons health record. He has also developed heart palpitations and dizziness on standing over the past few months.
I am really keen to give this a try,it fits alot of whats going on with him. Thank you so much, some direction is just what was needed.
I do have a question, forgive my ignorance, what does it mean to PM?

Nikodicreta

Jan 27, 2013

To: rach303297

PM : Private Message (from the members profile box -opens up when the cursor is over the name)

Blood Volume Test
This test measures the red cell volume in ml to body weight in kg. The normal would be 30ml/1kg red cell volume per Kilogram of body weight. Any result of >15% less volume would be indicative of  a significant Pathogenic issue.

The other  test would be the 24H Holter ECG. He have done one or more,however, the clinician would be looking for T-Wave pattern abnormalities, very consistent with pathogenic Mycoplasma infections where instead of peaks, there are valleys and inversions, in which case the blood in the left ventricle is not being pumped up efficiently through the aorta, and with possible tissue scarring occurring mainly in  the left ventricle.
So the physical evidence would be there, including often irregular heart beat, perhaps explaining the heart palpitations,
-not clinically significant in regards of "other" dx exploration- and  scarring, with EVERYTHING else showing normal!
It is one of those situations where if the doctor is not looking for it, it will be most likely missed.
With the first test, if the doctor again is not looking for something specific, then he wouldn't even think about a blood volume test, but if a person  in an accident had lost a few pints of blood, that would constitute a medical emergency! The health implications, when the blood volume is significantly lower, can be devastating! Hmm. Linked to the dizziness? Who knows?

I hope this will help find some answers.
Keep us posted!
Cheers!
Niko