[tri-med] Re: Aus Alex Update

Karen...
I have a question or 2 just to see if I'm thinking the right thing here??? I
looked up the Addison's and figured out that it might have something to do
with his cortisol levels being way off before his aborted surgery...I got
that part figured out. Now...the neurofibromas. Devon had a PCA (Personal
Care Assistant) a couple years ago named Tonya. She was African American.
She had what I thought were many MANY MANY moles...everywhere that I could
see. And she had what looked like very enlarged "spongy" looking distended
area on her elbow (one for sure...possibly both). I wasn't grossed out or
anything and I know that some people just have a lot of moles...but this
looked like a huge excess of them (many tiny little skin tag sized ones and
MANY MANY large bulbous kind of moles...some were clustered and some a
little more spread out) and I thought that there might be some kind of
medical condition and I was curious. One day she mentioned that she may be
having to have some surgery during the summer when we may have needed her.
She took her hand and kind of wobbled her elbow and told me she had
something...I swear she said Neurofibroma. And as I write this I am becoming
more positive that that is what she has...so maybe I don't have to ask you a
question after all...just sussing it out in my head trying to understand I
guess :o) I did take the opportunity to ask her if she minded my asking her
some questions about it and she didn't mind at all. That's when she
explained about the excess of moles and the large spongy tumor looking
thing/s were related and it was called Neurofibroma. She did tell me they're
usually benign and they can get very painful. She said that the one on her
elbow had not been painful at all but that it was growing at a very fast
rate and was starting to get painful and that was why she needed to possibly
have surgery. She also said that the Neurofibroma is common in African
Americans but that anybody can have it. I was very concerned about her
because as I said she had many many of these large moles and every visible
area on her body when she wore tshirt and capris. She had many on her arms
and neck...but it was the many on her face and neck that worried me most. I
just cringed to imagine the large moles on her face and neck getting
anywhere close to the size of her elbow and then any subsequent necessary
surgeries :o( Her elbow was like the size of 2 elbows on top of each other
if that makes any sense :o(
I know you've told us in the past that Alex was developing many moles more
concentrated on one side of his body...correct? And what has been looked for
with the Wood's lamp...is that the patterns of pigmentation that can happen
with mosaicism and with someone who started out as twins in the womb and the
one twin gets kind of absorbed into the other and only one child is born but
has 2 different cell lines??? Like Chimerism I think they call it??? I saw
it on CSI show one time (forensic show I like) and the head CSI used a
special lamp to see the pattern of pigmentation because it couldn't be seen
with the naked eye. IS that pretty much what you're talking about?? Or am I
WAY off base???

Love,
Penny...loving & devoted wife to Joe, the best husband in the world...mom to
Nick (17 yrs old...lover of Fishing, Dragons, Turtles, WofWC,
RollerCoasters, Chocolate Icecream w/ Ovaltine sprinkles, Devon (13
yrs...lover of Barney, Blue, Nappy ol' Bear w/dreadlocks, Elmo, & food in
general. Full trisomy 13 w/balanced translocation 5 and 13) , and Trooper
the Wonder Dog...our 10? year old yellow lab adopted from FL Lab Rescue
12/13/02 and Smoochie, Devon's goofy sidekick (1 yr Basset Hound mix) :o)
Please visit the webpage my wonderful friend Karen made for me on our
trisomy listserv at:
http://www.trisomyonline.org/victor.html      
AND...visit Noah's Never Ending Rainbow at: www.noahsneverendingrainbow.org 
AND...http://livingwithtrisomy13.org/album9.htm
AND http://web.coehs.siu.edu/Grants/TRIS/
AND my new slideshow at: 
http://www.onetruemedia.com/shared?p=3e291611cb644c422ff6bb&skin_id=402&utm_
source=otm&utm_medium=text_url
"Faith sees the invisible, believes  the incredible & receives the
impossible"
 
-----Original Message-----
From: tri-med-bounce@xxxxxxxxxxxxx [mailto:tri-med-bounce@xxxxxxxxxxxxx] On
Behalf Of Karen
Sent: Monday, June 16, 2008 3:31 PM
To: tri-Med@xxxxxxxxxxxxx
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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