Posted by keren
on January 10, 2000 at 08:05:33:
congenital hypoplasia (Milroy's disease
I will start at
Renal oedema the beginning, as it's the easy way.
Gemma is a 8 year old little girl., she was born prem. on the 25th October 1991 and spent her first few weeks in special care, she was discharged and sent home a happy healthy baby.
In her first year she suffered from lots of colic and reflux but this settled at about the age of one.
In her 2nd year she began to get very bad tummy pains on and off, these pains were so bad that medical people were sure it was either her appendix or a blocked colon.
The pains would pass after a day or two and were a bit like spasms but she could not walk, lay down or breath very well when she had these pains.
(At this point I should mention both my farther and I suffer a similar pain and even though we have had barium meals and chest x-rays several times no one has found a cause for these pains. More recently I have been suffering these pains after a period and have been that bad with them I have been bedridden. I have also had an emergency op two Easters ago. I went to the ER and was told that it was my gallbladder, my symptoms were very similar and even though I said that was not the case I was in so much pain they did the OP once inside me they found my gall bladder fine but did find some fluid (around 20mls) in a collection close to my liver)
Point One: The fluid
Point two: My farther my self and My daughter all seem to have this very painful illness
Moving on, When Gemma was toddling at the age of about 18 months she fell very hard on the floor flat out.
We thought she must have injured her self but as she got up and played we left it not wanting to cause a fuss.
The next day her foot around the greater toe was very swollen and we took her to the local Hospital. The doctor there was of no use and he said she could walk on it she will be fine take her home. This we did but on the 2nd morning her foot was not only swollen it was also red. My sister who is a nurse told us to take her to the hospital where she worked and this we did,
They gave Gemma an x-ray and then looked at it and saw that she had a "hot spot" on her bone (toe) they also noticed a collection of fluid and took her in hospital and did a drain of the abscess. They also put her on IV antibiotics as they were sure from the fluid drawn from the abscess that there would be a golden staff or other infection grown from it.
After a few days they came to me to tell me there was no growth and they did not know what the fluid was.
Not too long after this happened Gemma had another toe (the one next to the original) swell up and again she had fluid and again she was operated on and again nothing grew.
This was now baffling the doctor and Gemma was presented at grand rounds to a room full of doctors all had bone scans and results x-rays and files and Gemma to question and no one could tell me what was wrong with her.
Not long after this she again had a problem with her toes but this time on the left foot rather than the right. The original "ostiomilitus" idea went out the window as they said that that would not have sipped limbs the way that this had. They also added that her fluids had never grown a bug and that was not typical of ostio.
Gemma then had a swelling in her finger, her wrist he knee her elbow (at diff times) and all this time the tummy pains would come before a swelling and most times she would have a bit of backup with the pains.
Point one: she never had a temp with these swellings though the area was often hot and sometimes very red.
Point two: as the bone doc's could not tag her with a "she has" they discharged her.
At one time Gemma's wrist was very bad and I decided to take her to a different hospital.
I did this. And she was past on to a specialist.
The specialist was a rhumotologist and I was then told Gemma had arthritis. I was a little shocked as none of the professors had been able to tell me this in all the years Gemma was being seen.
Gemma was put on arthritis medication but continued with the tummy pains and with the swellings. Her bloods have never come back normal she has a very over active immune system. And all in all she has had time in hospital and lots of time off school.
Gemma's swellings continued to get worse and she was in hospital for a drain on her knee and at other times has been in hospital for bed rest and pyhisio.
When the drain on her knee was done the professor came to me and told me they had found Lots of murky fluid on and drained it off. This was also one of the occasions when she was given steroids by injection to the joint and also orally.
Her knee did improve however the improvement in her elbow was not very good.
Now, include in this the FACT that Gemma had never really had chest problems but on the day of her pre school injections she was ill and by the next morning was not breathing well and vomiting. I took her to the doctor and he was shocked to find her chest bad and gave her an injection of steroids and told me she had asthma . After this her chest has been very weak and she has had lots of bad asthma spells.
I still think to this day the injections had to have something to do with the chest problems too much of a coincidence
Point one : her chest was fine before she had the pre school injections
Point two : this murky fluid keeps coming up but never grows anything.
Now a few weeks ago her elbow was so bad that she was given an injection and for 8 days her elbow was great full movement no pain. This soon past and again she had restricted movement and pain and so much swelling.
I asked my GP to get a scan and also a x-ray don and even though he said there was not much point he arranged this. On the scan there was so much fluid the lady and the specialist that did the scan were amazed they also did a Doppler that shown the fluid was leaking into her tissue from the joint.
I went back to the rhumotology clinic and told them that I had the scan they did not bother too look at it saying the fluid will be the arthritis.
Next on Sunday night a few weeks ago Gemma's arm was shocking it looked almost like a knee and looked like it was dislocated she had lots of pain (no temp.) and not much movement. By the Thursday she was so bad I was left no option but to take her to the ER. When she got there the doctor called her specialist and she in turn called the bone doctors.
The doctor agreed to insert a needle into Gem and drain off the fluid. As soon as he began to draw the fluid he looked horrified it was puss like (greenish yellow) he wanted to take her for an OP right there and then to clean the joint. She had just eaten so they took her in and started her on an IV drip and the next morning they took her to theatre to do the op.
The sample they took from the ER grew nothing (oh yes the pin hole also flooded after the doc took out the needle and continued to drain off.)
The surgeon told me her arm was worse than the though and the fluid went deep into it so they left an open would to let it continue to drain off and he said this will grow a bug we will send it off.
Her white cells were very high and nothing grew at all from the 2nd sample. They kept her on the drip for a day or so then on oral tabs and let her come home. She has to have the dressing changed at least three times a day and its like a pump if she try's to stretch out her arm for me if floods the same horrid color liquid and it drains out all day.
Gem has been on the sulfur based medicines and they have not helped she is still on the naprosin and now they are putting her on methatrixate. They tell me the metha will do the job but then they told me that with the naprosin and the sulfur one.
Her arm is still swollen her movement in it still bad she has an open would that floods all the time and I am at a loss.
There are also a few other facts no one wants to hear.
When I was under 10,. I would often get swellings around my body (legs, roof of mouth) these swellings required penicillin and hospital for me and they discover that it was poison going into my blood from my tonsils.)
Also I spoke to a microbiologist after one of gemma's ops and he said it was not out of the question to think that when Gemma had her fall she has broken a little bit of cartilage, and that was going around in her blood finding places that she has had an injury too and setting up home there thus the fluid.
Now keep in mind her bloods never come back normal and all the other things in this letter.
Imagine a swollen join with an open wound that has not grown anything but is productive to the tune of about 10 mils at least of fresh green yellow puss type fluid daily.
See this little girl with very hindered movement in her arm and an amount of pain.
No temps abnormal bloods other health problems all tied in with a mum that has a history of odd pains fluid and swellings.
I was never as bad as Gemma she suffers with these problems and she misses out on school she takes horrid harsh medicines and I have 6 other children who have to compete with Gemma for our time and care.
She copes with the pain too well at times often not looking as though she is in pain and this again can mislead the doctors.
I would like her to see a doctor that will look at her history family history and her abnormal bloods.
I would like someone to investigate her case history and come up with an answer, Since Gem has been told it's arthritis nothing they (the specialists) have done with her has made any improvement to her and no one is looking further. In addition to this she also gets told quiet often it's a different type of arthritis.
Gemma is still bad with her arm and as the meds are not working with her arm its been said she should have an op to take some of the linning and fluid out .
We are also stressed as she always has blood in her wee.
Two days out of the week before christmas she was bad with her tummy and two days this week she has been bad.
She had a ring bought her for Christmas that was a little big she woke up Thursday morning crying as her ring was tight . We took a look and her ring was VERY tight and had to be cut off. I don't know she looks puffy a lot from time to time, her face under the jaw and cheeks seems puffy a lot of times but with the ring it is evidant that she not only looks puffy but is swelling. She is no longer on naprosin or steroids and has been off the well before Christmas. She now has the methatrisate and no other meds so it cant be reaction to the steroids. I am at a loss I know the staff looking after Gem are good people but I get stressed when things like blood in her urine go noticed but not explained and this swelling on top of the rest of the probs is getting me down.
I wonder if you know anyone I may be able to talk to about Gemma other than the docs as the childrens hospital?
As lawys her bloods esr c reactive and so on are up and her blood in urine is up to >100
I am at a loss I read the report and see cancer related terms and think hell no and then see connective tissue disorder and think ok its that but then go to bed seeing the cancer related terms on the reports and panic. her doc's say the ESR and Creactives are arthritis related and no one explaines the blood in her wee.
I know I have gone on and on in this post but I am at a loss.
Gems doc's are great but being put back to a bone doctore now has upset me and I see so many people treating her and never get the same answer from any of them.
I have great respect for her pediatric doctor and her proff and at times like this (tonight being a night after seeing yet another bone doc refferd by the kids hospital and getting more elevated results)I am feeling very un connected
any emails will be read and met with open arms and ears