[tri-med] Re: Aus Alex Update

----- Original Message ----- 
From: "Penny Victor"
> 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.

Yes, he has many of the symptoms of Addisons Disease (low levels of 
cortisol, unable to gain weight, extreme tiredness, vomiting, unexplained 
fevers etc) but technically not Addisons because he is producing ACTH. There 
is something, however, thats producing the wrong chemicals / hormones so 
that he has a low cortisol level anyway, along with everything else.

We need cortisol if we are stressed (good stress or bad stress - so even 
laughing is stress) and Alex just doesn't have it when he needs it. Cortisol 
is hard because as Nanci pointed out it's cyclic and the levels vary at 
different times of the day. But even taking that into account Alex's levels 
are extremely low. So they have now tested everything that normally causes 
low cortisol. His thyroid is fine (it effects cortisol), his adrenal gland 
is fine (it effects cortisol) even his hypothalamus is structurally fine (it 
also effects cortisol) - from what we can see!!! (there is always that 
qualifier).

So all the common things for causing low cortisol are fine but there is 
something thats not because he has low cortisol (which will need to be 
watched constantly) and some of his other catecholamines are also out of 
whack (like VMI which is basically a type of adrenaline).

Alex's catecholamines have always been whacky - thats how he ended up with 
the Shapiro's diagnosis, but other cat's that were fine are now also out of 
whack, like cortisol - in short he is getting worse not better.

>>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.

Yep - it sure sounds like neurofibramotisis (NF for short) but it also 
sounds like NF Type 1 - its more severe and agressive that the type that I 
have, which is type 2. To me a lot is a dozen or more "lumps" but someone 
with NF1 will have thousands. I have some moles but not a lot - mine are 
more the painful lumps, some have the "mole" covering some don't.

Alex on the other hand has a lot of moles and moles in unusual places - like 
on the palms of his hands, on his ears etc. But no lumps. Thats what started 
the endo thinking.

Your friend is also correct - anyone can develop them but its also 
heriditary, with a 50/50 chance of passing it on. All my family have moles 
and skin tags - I, as far as I know am the only one to develop the painful 
lumps.

Interestingly I suffered from gall bladder pain for years and years but 
never had gall stones. So typically I was accused of malingering and making 
it up (if you have ever had gall pain its not something you can imagine). 
Eventually tests finally showed that my gall bladder wasn't working so they 
took it out and when they examined it they found that it was filled with 
these neurofibromas.

And this is sort of what they are thinking may be happening with Alex. It 
only takes one, and as I said it can be really really small and finding it 
well.............

>>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.

They can be nasty. I don't know about African Americans as thats not a group 
we see a lot of here in Australia. I have a friend who has NF1 and she has 
thousands on her face and it has effected her vision (they cover her eyelids 
etc) Two of her three sons inherited the NF and one son has lost his leg 
because an NF turned cancerous. Its quite deforming and while they can be 
removed type 1 sufferers have so many its not worth it unless they are 
limiting life in some way. I am so lucky not to have type 1.

>>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???

Yes. Mosaicism can be associated with cafe au lait spots. Milk coffee 
discolourations on the skins. (and different to lines of Bleshcko which I 
also talk about sometimes). They can be very faint but show up clearly under 
a woods lamp (just a lamp with an ultraviolet bulb) Cafe au lait spots are 
also associated with neurofibromotosis. It always amused me that everyone 
looked for cafe au lait spots on Alex - including John Carey - but he never 
had any. I on the other hand do have them, because of the NF probably.

Over the last couple of years Alex has developed a couple of very faint cafe 
au lait spots - on the sacral spine region of his back. In themselves its 
nothing but as an indicator.......

>>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???

OK - I saw that show too, please ignore it. Please please please. It's true 
but it was really a dramatisation. It could happen that way (and does - we 
have a couple of kids on the list that are true chimeras) but its nothing 
like that episode of CSI. Most mosaicers are NOT chimera's in fact you 
wouldn't even think chimera unless there were a set of very special 
circumstances surrounding conception. In fact because of developments in 
science there are probably more chimeras these days than ever before but 
most would never know.

And its not just chimera's that have Bleshkco's lines, cafe au lait spots 
etc - that can happen with any mosaicer, in fact it can happen to anyone. As 
can the other one and I can't think of the medical name for it - it's a blue 
spot most commonly seen in some races that have dark skin - my grandson has 
one because his father was part Indian (from India not native American). 
There are few mosaicers on the list that have it and will jog my memory.

Actually I avoid using the word chimera - it has two very distinct meanings. 
We usually use it in a genetic sense on the list but I have seen some folk 
get confused with it because it also means a crazy idea "an absurd 
creation - something fanciful in the mind".

A genetic chimera happens as you described - usually when there are twins 
and one twin is absorbed into the development of the other (within days of 
conception). Usually the surviving twin develops as normal but with two cell 
lines and you would never know that it had happened. In one of those CSI 
shows however the second twin developed as a separate entity with teeth 
etc - thats not normal but can technically happen.

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

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