Minime and the dragging diagnosis

[mrsflibble]

since she was 18 months old, we've been seeing a consultant at the hospital to try and find out when she gets ill every 4 weeks; always the same symptoms. tonsillitis, oral thrush, scary high temperatures, joint aches and then it stops as quickly as it comes on. goes away for 4 weeks, then starts again. she's missed loads of school because of it.

basically after a lot of blood work (which has left me with a needle phobic five year old), hospital visits etc he gave us a list of what it ISN'T, and a diagnosis it COULD be.

about 15 months ago he gave us a provisional diagnosis of Familial Mediterranian Fever. he was reluctant to send her for genetic screening and just recommended we carry on as we are. control the symptoms as and when they happen, and try not to worry that it's potentially life threatening and can lead to kidney failure before the age of 30, but wait until puberty for the symptoms to get worse before considering screening and treating symptoms aggresively; it's genetic so not treatable.

one thing though, I was messing on google ad came across something tonight. a similar inflamatory disorfer caller PFAPA. it's named after the symptoms, Periodic fever, Aphthous-stomatitis, Pharyngitis, Adenitis.

from one site:
"This syndrome includes recurrent episodes of fever with aphthous-stomatitis (mouth sores), pharyngitis (sore throat with redness and sometimes a throat that has a white covering – exudate - like that seen in a throat with streptococcal infection. PFAPA affects children in early childhood, usually starting at age two to four years. Episodes usually decrease in frequency and resolve after the age of 10 years. This disease was recognized for the first time in 1987 and was called Marshall’s."

to cut a rambling story short, this is often mistaken for FMF but is turned to as a diagnosis when FMF turns out not to be right. the deciding factor is this: in FMF there is a distinctive rash around the ankles and legs, and swollen joints during episodes. PFAPA has recurrent symptoms similar to oral thrush and tonsillitis.... are we seeing a pattern people?

this is a rambling post more than anything; thinking aloud with my fingers perhaps? we're seeing an ENT consultant next month about her tonsils but is it worth going to the GP to ask to be seen by her original consultant again? or perhaps waiting and asking the ENT guy? it's just aving ruled out a lot of disorders through diagnostic tests and treatments (some really horrible tbh), we could finally have something. and the best bit is, it's none life threatening AND children often outgrow it by age 10; WITHOUT THE NEED FOR TONSILLECTOMY....

confused flibble. thanks if you got this far ;)

[fifi folle]

Sorry to hear you've had to cope with all this. It must be so hard to see your wee one ill so often (my baby is only a month old and I'm finding it hard enough coping with colic!). I would ask to see the consultant again. GPs are great for routine illnesses but they are called "General" practitioners for a reason; they have to know about a lot of different conditions and it sounds like you need specialist help. That said I have found that I often know more about my condition (endometriosis) and new developments than the consultants. I would personally push for the genetic testing as I would prefer to know what I was dealing with and hopefully rule out FMF.
Good luck and hugs

[noplasticbags]

Hi Mrs F,
Sorry to hear little one has had, and continues to have such a rough time. It must be a constant worry. I would ask the GP to refer you back to the consultant, as I'm presuming the ENT consultant is likely to say that this is beyond his remit and not be able to put your mind at rest. From what you have described I still think he'll say that you'll have to wait until she passes 10 to see which way it goes.

Is there any sort of support group on the net that you could contact that may be able to help?

Take care

[little blue duck]

no real advice just
hope this is your answer & she grows out of it/ is treated soon

[mrsflibble]

thanks peeps. I'll be making her an apointment with our gp this week anyway because se's got it again and we will need antibiotics and free paracetamol lol.

[noplasticbags]

I will qualify this from the start by saying I have no medical training whatsoever (my kids laugh as although I am well-educated I still call anything scientific I don't understand "magic" ), but has anyone considered if her symptoms are anything to do with the amount of antibiotics she has taken? If she is having to take them every four weeks, is there any possibility that the symptoms just come back as soon as they are out of her system, and that they are almost some sort of withdrawl symptom?

I know this is a bit whacky, but I have read a lot about how antibiotics are not really good for you (although I fully accept how necessary they are and accept them when there is no alternative - not wanting to sound preachy).