[tri-med] Good news about Alex/Looking for info trisomy 12 mosiac

 Karen,
 Just read your email, what an amazing young man you have there. I am so glad 
to hear he is doing well and that you had a positive experience in hospital, 
its nice to hear that some people actually do have better experiences in 
hospital.
 I was wondering if I could pick your brain while I am hear  or if there is 
anyone out there that could help. I was approached by my health visitor today 
and she told me that  she has a new client whose child has just been diagnosed 
with trisomy 12 mosaic at one years old. I told her to contact the trisomy web 
site and gave her the address and told her how much help all you guys have 
been. But the parents are in hospital with their child at the moment and I was 
wondering if any of you have any info I could pass onto them regarding this 
syndrome.
 
 Again, brill news about Alex Karen, onwards and upwards.
 
 Katy. Mum of son with Trisomy 8 mosiac.
----- Original Message ----
From: Karen <karens@xxxxxxxxxxxxxxxx>
To: Tri-Med <tri-med@xxxxxxxxxxxxx>
Sent: Wednesday, 24 May, 2006 7:03:32 AM
Subject: [tri-med] Alex is Home

Well we got home late yesterday afternoon. Everything went so well. I really 
like Alex's new pediatrician. I was so nervous because George had been a 
wonderful ped and has been through everything with us since Alex was a baby. 
Just the thought of breaking in a new pediatrician was scaring me. Everyone 
told me the new ped was great - and they were right!!!
For the record I will give a chronology of what happened, just in case it helps 
someone else later on.

On the Thursday Alex had a really bad low temperature episode. I was actually 
in the city with him when it happened. On the plus side I had his wheelchair 
with me, on the down side I had caught the train in. So I got caught on the 
train with him losing consciousness. City Rail were great though - the guard 
saw we were in trouble and called ahead to our nearest wheelchair accessible 
station and organised a wheelchair taxi to get us home - at City Rail's 
expense!!!!

He seemed to settle down after that episode but on the following Monday he got 
sent home from school with a 33C temperature and he was complaining of pain in 
his side. Alex has an abnormal response to pain, it is much reduced, so when he 
complains of pain I tend to pay attention. I was doing the usual do I or don't 
I take him to the hospital dance all Monday night, but it appeared to settle. 
His temp came back to normal so I thought it had passed. 

I let him go to school on Tuesday (Alex loves school) but his aid called about 
midday and said that his temperature had dropped again (34C) and he was also 
complaining of the pain in his side. I had already put in a call to his GP who 
had said that if it happened again he needed a surgical review at the hospital. 
I was happy to treat the low temperature, but the pain I wasn't sure about 
simply because Alex NEVER complains of pain unless its severe.

I collected him from school and went straight to the hospital. The doctor there 
was GREAT. He felt that it was probably appendicitis and if it was any other 
child he would just take them out there and then, but Alex being Alex he wanted 
a pediatric intensive care unit handy just in case. So our local hospital 
organised an ambulance, nurse and doctor to move him over to the Children's 
Hospital. Its a different Children's Hospital to what we are used to so 
combined with a new ped I was really apprehensive.  

We didn't arrive until about 11pm and were met at the door by his new 
pediatrician. He was marvellous. Wednesday and Thursday's discussions centred 
around what was the best way to go for Alex, not whether they would do anything 
- thats a first!! Because of the abnormal pain response it was hard to work out 
just how bad the pain was. Believe it or not Alex kept telling us that it felt 
like his appendix was stuck to him. The GI kept saying that he shouldn't still 
have an appendix, that it would most likely have been removed when he was a 
baby and they had corrected his malrotation. It was almost 12 years ago and my 
memory of the specifics werent as clear as I would have liked, but as I kept 
telling them I was pretty sure that the surgeon told me afterwards that they 
had left his appendix behind because the malrotation of the lower bowel wasn't 
as bad as they had expected, and they had only corrected the worst parts with 
the upper bowel (around teh DJ flexure). That is they
 had 
 gone in expecting to do a LADDS procedure but in the end hadn't.

The surgeon tried very hard to get the theatre report from the old hospital but 
surprise surprise, they couldn't find it - they could only find the anaesthetic 
report. So early Thursday morning my 80 year old neighbour brought over my 
copies of Alex's records. From them we were pretty sure that they hadnt taken 
his appendix - the discharge summary didn't mention it and it certainly wasn't 
in the histopathology report.

Late Wednesday night they did a CT scan with contrast (always a risk with Alex 
because of his allergies) and found that he either still had his appendix and 
it was the "funkiest" appendix that they had seen in a long time (surgeons 
words :-)) because it was covered in nodules and it was longer and thicker than 
it should have been. Or else it was a growth or something else totally. The 
good news is that there are no nephrogenic rests to be seen on his kidneys and 
his liver is clear as well. 

So surgery was scheduled for Friday afternoon. The only arguement, and it 
wasn't really an arguement, just a repeated discussion, that I had with them 
was over pain relief. I kept insisting that they only use morphine if it was 
indicated, not simply because it was "normal" to give morphine post surgery. 
They didn't really believe me about his pain response. In the end they agreed 
to give him lots of local in theatre and Fentanyl in recovery if needed - any 
further pain relief post op was at my discretion. 

Alex came out of theatre about 5.30pm and I met with the surgeon. The surgeon 
recognised me and I recognised him - not from surgery or hospitals but because 
Alex played soccer with his son a few years ago........ its a small, small 
world. He explained that the appendix wasn't very inflamed but it was adhered 
to his abdomen (just as Alex had described it!!!!!!). Why he actually had 
adhesions there we arent sure. There were no violin strings so it wasnt 
adhesions caused by nasty abdominal infections or anything. His abdomen was 
also full of "free fluid" - thats a yellow fluid our abdomen produces 
apparently when we are battling certain viral infections. 

He divided all of Alex's abdominal adhesions, removed his appendix and also 
washed out his abdomen to reduce the effects of the virus in his abdomen. He 
ran the bowel and found no Meckel's (that was another possibility as to the 
cause of the pain) They weren't sure that they would be able to do it 
laprascopically because Alex has had so many surgeries and they felt there may 
have been too much scar tissue. But they did - it took 4 incisions but it was 
all done laparscopically.

While they were in there I asked the geneticist to request a cytogenetic 
analysis on the appendix. She agreed but said that it was the first time they 
have ever done a karyotype on an appendix!! they also took another skin slice 
from one of the entry wounds No additional scar or pain but we get another skin 
sample :-)

I went into recovery and Alex was still very asleep. As he was going under the 
anaesthetic his last words were "I love you Mum" - coming out his first words 
"Can I call Lloyd" (Lloyd is a friend from school :-))) Kids!!!!! 

He did ask for some pain relief in recovery so they gave him some Fentanyl. 
Unfortunately (or is it fortunately) he doesn't have have the same reaction to 
Fentanyl as he does to Morphine and he actually desaturated a couple of times 
after he had it. The recovery staff were really concerned that he hadn't come 
out of theatre with a PCI - but were happy with my explanation that it was at 
my request. A PCI and or morphine could always be added, but if it was there, 
or was already charted then there would be the tendency for nurses to feel he 
"needed" it without him actually expressing that he wanted it.

We got back up to the ward about 7pm. At 9pm Alex wanted to go to the toilet 
and refused a bottle in bed. So he got up and walked about 15 yards to the 
toilet and back again!!! About midnight he walked to the toilet again and then 
wanted some more Fentanyl (he liked it!!) but all that was charted was Panadol 
(Tylenol). I opted to give him the Panadol and then "see" how he was. About 2am 
he asked for the Fentanyly again so the nurse called the registrar who wrote up 
some codeine for me. By the time that was all done Alex was asleep. We gave him 
the codeine via gastrostomy anyway.

After that he was walking fairly freely, happy to stay in bed for the most part 
though :-) He had some more panadol about lunchtime on Saturday and then that 
was it. Every time we offered it he refused to have it!!! Saturday night he was 
a bit restless and setting off his monitor all the time so the nurse asked if 
she could give him some codeine, I agreed, not that it really settled him 
though. 

The surgeon came around early on Saturday morning and said that Alex could go 
home!!! So that was less than 24 hours after the surgery!!! He would only have 
been keeping him in hospital for pain relief and seeing as he wasnt having any 
he was happy for him to go home. Alex's normal temperature is about 36.3 C and 
on the Saturday he was running what I class as a low grade fever for him (37.3 
C axilla) so I opted to stay in until it went down.

He had a Shapiro's crisis on the Saturday afternoon / night and again on the 
Sunday night. Neither needed treatment, we just watched him closely and warmed 
him up with blankets. Monday night his temperature dropped back to his normal 
so we came home Tuesday afternoon (yesterday). He is walking around, it catches 
every now and again so he has a bit of a left sided lilt at times, but he is 
bending down and acting very fine. He wont carry anything but he is certainly 
not complaining about anything either.

This morning he got up and got ready for school!!!! He was most indignant when 
I said no - not until tomorrow at least.

I was very impressed with both our local hospital (Sutherland) and the Sydney 
Children's Hospital. At all times we were treated with the utmost respect. When 
I mentioned that Alex was for full resus they actually said that they never 
questioned that at all. I had a bit of a run in with one nurse - and I didnt 
even have to really complain. This particular nurse was Asian and fairly new to 
Australia. I became concerned when she didn't know what anaphylaxis was. Not 
good for anyone who is giving antibiotics all day, let alone looking after 
Alex. I mentioned it to the NUM and she agreed that it wasn't good enough 
(thats a first) and that she would ensure it would be dealt with. The next day 
when she came on duty she wasn't with any patients but doing training!! Alex 
did have her one day over the weekend, but when she was on I wouldnt leave his 
side (paranoid mother). When she came to take to his temperature she wouldnt go 
by his machine because her thermometer was a degree
 lower.
  I tried to explain that it was because his machine was reading a core 
temperature (rectal probe) and she was doing skin (axilla), and that a core 
temperature is ALWAYS 1 degree celsius higher than skin. She just kept saying 
"I don't understand" - that worried me so even when she took his temperature I 
made sure I held the thermometer in (many nurses just stick it under the arm 
and don't ensure a good skin contact which gives an inaccurate reading). 
Finally she said to me "you don't trust me do you" and I just said "no". Might 
have been mean but it was true. Anyway that was the ONLY problem we had in the 
entire week. Minor compared to past experiences. The doctors just told the 
nurses to listen to mum, if she wants anything give it to her. And the nurses 
accepted that. When we left I thanked the nurses, especially as I know that its 
hard to care for someone as "different" as Alex. They turned around and thanked 
ME for being so helpful and having such a great summary sheet
 an
 d for including his protocols when he was admitted. 

Alex made some great friends in there, and so did I. One mum has a daughter 
with infantile spasms, she was starting the keto diet and we have already 
agreed to meet up for coffee when she gets home. Another mum and I are also 
going to meet (no firm date as yet). Her daughter was born without ears and had 
recently had the rib graft surgery to create ears. Thats the surgery I want 
Alex to have. Her daughters ear (only one has been done so far) was gorgeous. I 
mean that it, it was really pretty and so natural. So I am going to try and get 
in to see the surgeon. We may be able to get the surgery done when they crack 
Alex's ribs again in 12 months or so to replace his pacemaker battery - one 
less scar......... Her daughter is also getting a permanent BAHA. I thought 
that Alex wasn't a candidate for a BAHA but after talking with her and reading 
some info that she had I am not so sure so we may explore that as well. It may 
mean fundraising as they are $8,000 each and Alex would
 need
  two, but if it helped....... 

It was actually funny, it was a 6 bed ward and Alex had the middle bed. Either 
side of him were deaf children, it really made Alex feel at home and meant that 
all the parents understood when they turned the TV and playstations up too loud 
:-)) 

In the bed opposite was a young teenager. He had broken his leg playing 
football and ended up with a bone infection. He was so good with all the kids. 
Seriously he was just brilliant. I have decided that I am going to call his 
school and his football club (he plays for South Sydney juniors) and applaud 
them for his behaviour and attitude. Its easy to complain but I think its all 
that more important to give praise when its due. Especially as our footballers 
have been getting a lot of press lately for bad behaviour.

I think thats about it. What started as a very scary experience ended up being 
a good one, well as good as any hospital experience can be. Its just a pity 
that it had to happen. Alex hadn't had a hospital admission for 2 years!!!! Ah 
well lets just hope its 2 years till the next one.

Life consists not in holding good cards but in playing those you hold well.
                                            -- Josh Billings

Keep Looking For Rainbows!!
   _--_|\
 /Karen \
 \ _.--._ /
          v Karen, Mum to Alex (11 years, T-18 Mosaic)
http://members.optushome.com.au/karens

                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line






                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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