So we had the doctor appt today and I am not long home.
At first I was relieved that they let us go home instead of running another lot of tests in hospital - a weight lifted off my shoulders.
Now - I am a little numb.
We have no answers and are no closer to anything. Our rheumy checked maddi over inch by inch and NO obvious signs of arthritis or ANYTHING!!!
But - there is something wrong. Apparantly it is still looking like a weird periodic fever syndrome - but normally these conditions are genetic - so somewhere along the line someone else in the family should have had it - but noone has as far as we know.
And -GET THIS - for it to be a really rare PFS my husband and I would need to be related. AGGHHHHH!!! we are not....but we are going to go way back in our family trees just to be sure no convicts jumped off the boat and hooked up with a relly!!! (we are Aussies)
so this sucks - still.
We have the best team of paediatric rheumys in this country helping us. And they are taking it to a national conference at the end of the month HOPING that someone has seen or heard of a similar case.
The only doc better than ours is based in Toronto - but deals specifically with PFS (our rheumy trained under him) and we are not ready to narrow things down just yet. Our doc wants to stay openminded so we don't miss anything else - it may still possibly not be rheumatologiical!!! and he has contacts all over that he is liaising with.
So I still need to keep recording everything and HOPE that another symptom pops up to narrow it down - what symptom we do not know but can it get any worse??!!! I don't WANT any more symptoms.
So Maddi was wrapt - no bloods - first time ever! But then- like me - she started asking "when will they know what is wrong with me?"
so if any of you ever hear of anyhting like this PLEASE let me know - I know you are not doctors but it makes no difference as they have no clue anyway.
As far as the bullying - her teacher spoke to the whole class and she has kids being nice to her everywhere - except one or two. Two boys told her they loved her - so apparantly I need to plait her hair every day now!!!(and they are 7!!!) so it appears to be improving already - we have a great team at her school.
A quick list of Maddis symptoms for those of you who do not know are:
- raise ESR's in bloods that go up and down and even disappear for no reason.
- bloods show signs of inflammation
-xrays normal - no signs of arthritis in bones
-bone scan hot spots that MOVE (spot disappeared once after antibiotics but then in next scan moved to bone next door- but its not osteomyelitis)
-MRI showed inflamed bones in 5 areas!
-headaches, dizziness, nausea, general aches (mainly legs) EVERY day
-periodic fevers that last up to 12 days - spike to 40+ degrees - with severe pains that appear to be 'waves' of pain.
areas of pains include - legs, feet, ankles, thighs, ribs, back, fingers, hands, wrist - sometimes one, sometimes all together. -worst bouts are severe fever and pain that jumps from one spot to another lasting 3 hours or so (appears like labor contractions). not all these areas have shown up as inflamed spots in scans and MRI.
-abdominal pain
-bone marrow aspirations done twice -both clear - thank GOD!
so its a weird one.
One more thing - her little brother who is 5 is starting to get achey legs, sore belly and headaches more and more. Same age as maddi was when all this began. I don't even want to go there!
So I will sleep on this and tomorrow WILL be a better day.
Thanks for reading my LONG post!
Goodnight
Nelly
Oh and I forgot - 3 weeks ago her bloods showed a severe deficiency in vitamin A. she took a course of it for two weeks.
apparantly - this too is very rare in kids. and we don't know what it means.....
Whew. Frustration!! You guys have a wonderful doc that is really pushing for her and trying to figure out what is going on. I hope this gets figured out soon so she can be treated and back on her way to being a normal little 7 year old girl. Hopefully her brother does not have the same thing going on!! Glad the bully situation at school got straightened out. School is hard enough without adding the extra pressure of illness in to the mix.
Keep us posted on you guys!!
I am glad you have a good doctor but it must be so frustrating for you and little maddi .My 13 year old went through something very similar and we thought RA , she too had high fevers,aches in her joints especially her legs and generally feeling horrible, she was eventually diaganosed with Osgoodschlatters disease but a year ago that diagnosis was changed to osteochondritis which is supposed to be a young teenage boys disease or somebody athletic but she ws only 7 at the time and although active she wasnt an athlete.Her symptoms have dissapeared a lot now thoughI am so sorry for you and your family. I really have no idea butt has she been tested for MS? I sure hope they get her fixed up soon, poor little darling. Love and hugs to you all!!poor poor baby.
I am so hoping they get this figured out and soon.
I just thought of this.. have you gone online to an orphan diseases website?
http://www.hon.ch/HONselect/RareDiseases/
http://rarediseases.info.nih.gov/asp/diseases/diseases.asp
an orphan disease is one so rare that a doctor in regular practice would not be expected to see more than 1 case a year.. However some of these things are so rare many doctors NEVER see such cases.
I'm not suggesting you do all the websearching yourself... do you have friends or family who could start looking up symptoms in the NORD site?
I'm wishing all the best for Maddy.. My son had Osgood Schlatters, and it didn't seem 1/10th as bad as what maddy is going through.
Good to hear all is better at school, she doesn't neet to be hurt by her little friends. I hope your docs can figure this out---soon!
the pain, and suffering is too much, lv sarah
Hi Nelly, Just wanted to tell you that you and your little Maddi are in my thoughts and prayers.
It is hard to have a child that has a chronic illness ( or any illness really). But to have one that can't be identified is hugely frustrating! I can only imagine what you and your family are going through.
Do you have a medical center in Australia that is well-known, countrywide, as the "place to go when no one else can tell you what is wrong"? Like the Mayo Clinic, here. Or St Jude's Childrens Hospital?
These are just thoughts. I just can't stand the thought of a child suffering and no one is sure how to treat her.
It seems as though your doctor is being very thorough, which is great. Sometimes all the usual tests are not able to identify the problem.
I hope you little boy is not found to have the same problem.
Best wishes, Sweetie. Our prayers are with you.
Gentle hugs and Blessings,
Nini