[tri-med] Re: Aus Alex Update

interesting as while you were out we found out kam has a spinal fibrolipoma. 
oncology is looking at the mri before making reccomendations.  i wonder if 
t18 has a tendency toward lipomas in general.
jude, mom to derek-22, kelsey-20
and kameron-11-full trisomy 18 (hanging out so i will never be an empty 
nester)
golden, colorado usa
http://www.judewolpert.com
http://flickr.com/photos/judewolpert/
http://home.comcast.net/~jfwolpert2/wsb/html/view.cgi-photos.html-.html
----- Original Message ----- 
From: "Karen" <karens@xxxxxxxxxxxxxxxx>
To: <tri-Med@xxxxxxxxxxxxx>
Sent: Monday, June 16, 2008 1:31 PM
Subject: [tri-med] Aus Alex Update


> 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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