[tri-med] Re: Aus Alex Update

Welcome back!  We're glad to see you up and running!  
   
  I think about you often . . . Nanci
Karen <karens@xxxxxxxxxxxxxxxx> wrote:
  Well we saw the endocrinologist today. There was a lot to digest but here goes
Alex has a blood vessel anomaly in his brain. Fawna its sort of like a Moya 
Moya but its not because its venous not arterial and its occipital. The endo 
believes that it is probably the cause of his headaches and there is a risk of 
stroke with the high BP's. What to do about it remains the question. (and just 
for interest - he is treating a young child with a chromosomal anomaly for a 
moya moya discovered after the child had a stroke)

Alex has done an amazing job with puberty - we went from no sign at age 12 to 
being almost finished at age 14. A new record. He believes that he will stop 
growing soon!!! At present he is 170cm (5 foot 6 inches or there abouts). Not 
bad for someone who never made it onto the charts till he was a toddler and who 
they tested ad infinitum for growth hormone deficiency. Testosterone production 
is fine obviously.

He doesn't have Addison's Disease per sa as he is producing ACTH but his 
cortisol levels are still too low. IgA is still low and I laughed - all the 
foreboding for that and Alex doesn't really get that many chest infections - in 
fact less many of our friends kids. We will still have to take care with blood 
products and it increases his surgery risk but for now we just try not to 
stress the kid. (more like he stresses me!!)

His VMI (epinepherine related stuff) is however way too high and his other 
catecholamines are "off". Now this is not new - his VMI has always been high. 
However adding the fact that the Shapiro's hasnt improved and we are now adding 
episodes of temp spikes, high blood pressure, vomiting, extreme tiredness etc 
he is concerned that we are dealing with a mole.

I think that I have mentioned before that Alex has a lot of moles developing 
and also recently he began to develop Cafe au Lait spots - definitely not there 
as a child as he has been insepcted with a Woods lamp by a zillion students. 
The endo thinks Alex has a tumour or a mole inside somewhere thats producing 
the extra catecholamines etc. 

When he said that I asked if he meant something like a neurofibroma, and he 
looked at me strange and said yes, exactly that. So asked him if he knew that I 
had NF type 2 and I could see the light bulb go off. 

Neuroblastomas are related to T-18 but neurofibromas may be an additional 
genetic issue that he has picked up from me. I have never been formally tested 
for NF2 its just an assumption because I have had a dozen or so develop during 
my adult life and had to have about half removed because of pain, meaning that 
they developed for example on my knee or thumb and caused excruciating pain 
when my girls bounced on my knee and knocked it or if I turned on a tap because 
thats exactly where the NF was. (they are tumour made up of a jumble of nerves 
and nerve endings so bump it and its like 10,000 volts of electricity hitting 
the nerve endings - the pain is sudden, drop to the floor type pain - imagine a 
tazer hit)

The problem is that a neurofibroma can be as small as a pin head and it could 
be anywhere. The good news is that they are rarely cancerous (but can be). The 
bad news is that finding it will be like looking for a needle in a haystack. It 
could be in one of the moles on his skin or it could be attached to some 
internal organ. 

So he has done more spot catecholamines today plus some bloods for tumour 
markers. I have to call back next week and in the meantime he will speak to the 
neuro and weigh up whether they go looking for the proverbial needle or if we 
take our chances they way things are and wait till it gets worse.

So for now we proceed as normal and try not to worry.

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 (12 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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