[tri-med] Re: Need Info on Trisomy 8 mosaic ASAP

Hi Karla,
I tried to get a bone scan for my son but the doctors said they didn't feel it 
necessary. I am going to try and get the new surgeons we are due to see in July 
to authorise new xrays of my sons arms and legs to see if they are any 
different from the ones he had taken 2 years ago.
I didn't realise that your son close in age to my son (he's nearly 4) has he 
had any complications so far with his health. My son if not walking yet but 
bottom shuffles every where and he also has delayed speech but uses bits of 
signalong.
It would be great to know more about your son and maybe we can keep in touch - 
help each other out sort of thing.
Katy son t8 mosaic.


----- Original Message ----
From: Karla Engeldinger <jkdinger@xxxxxxxxx>
To: tri-med@xxxxxxxxxxxxx
Sent: Thursday, 24 April, 2008 8:48:13 PM
Subject: [tri-med] Re: Need Info on Trisomy 8 mosaic ASAP

My son is 5 and 1/2 and has trisomy 8 mosaiciam.  He had a bone scan Dec
2007.  Bone size, we were told is of that of a 4 year old but no mention of
brittle bones and I can't read x-rays and didn't see them.  No boken bones
that I know of but he is very small and I've worried about that as he is
hyperactive also.
----- Original Message -----
From: "Katy Roberts" <basil1_2000@xxxxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Tuesday, April 22, 2008 3:24 PM
Subject: [tri-med] Re: Need Info on Trisomy 8 mosaic ASAP


> Hi Fawna,
> My son has t8 mosaic and is nearly 4. He has not been diagnosed with
brittle bone but I have queried that something may be wrong because when my
son had a his first skeletal survey carried out his rather arrogant
consultant told us that his xrays looked fine but he did have a scoliosis
and kyphus. I then asked to see the xrays and I noticed some oddities and
pointed them out. We discussed the fact that my son has odd shaped ends to
his joints - instead of being rounded they are flattened, he has no knee
caps, he did not have a very defined white line outlining his bones it was
more of a penciled outline, we then noticed a very thin faint line across
his fore arm. I asked the consultant what it was and he asked us if our son
had ever broken his arm, I explained that he had never broken a bone - not
that we new of. But he was born 3 months prem and we spent 6 months in
special baby care unit with him until they found a malrotation of his gut
and they
>  operated and he became well so we could go home. I asked the consultant
if he could have brittle bone or osteoporosis but he was very flippent and
said no he did think this but to keep an eye on our son. This all happened
when  he was about 18 months. We have seen this consultant twice more and on
the last visit 6 months ago I asked if our son could have more xrays done of
his arms or legs (because he was just requesting xrays of his back) he asked
why and I reminded him of our sons first set of xrays but he was very
dismissive and denied most of our conversations. He asked me if I had ever
broken a bone I replied yes and he said then you should know how painful it
is then and that if our son was repeatedly breaking bones we would know
about it. My response was that our son had a high tolerance to pain after
everything he had been through. The consultant then said to me that he saw
many kids 'NORMAL' and special needs and that he had never seen a child
>  that had a high tolerance to pain. Needless to say I am taking this
further and am seeing spinal surgeons in a couple of months and I will
discuss the idea of my son having some more xrays of his arms to see if
there is anymore evidence of old fractures or that his bone density look ok.
> So in answer to your plea Fawna -  I have my suspicions but no proof, but
my scientist brain weighs up everything and his bone density xrays could be
explained by the xray exposure  at the time of taking - but the weird faint
line across his forearm I can't explain.
> If I get any more info that my be of better help I will get it to you
immediately.
> Katy son t8 mosaic.
>
>
> ----- Original Message ----
> From: Fawna Lockwood <fawna33@xxxxxxxxxxxxxx>
> To: "Tri-Med@Freelists. Org" <tri-med@xxxxxxxxxxxxx>;
tri-mosaic@xxxxxxxxxxxxx
> Sent: Tuesday, 22 April, 2008 8:00:45 PM
> Subject: [tri-med] Need Info on Trisomy 8 mosaic ASAP
>
> I've had an e-mail from a reporter doing a story on a T8m baby out of
Texas.
> And I'm afraid that this just isn't a 'feel good' kind of a tale.  The
short
> version is that Zoe & her brother were removed from their home and placed
> in foster care, because Zoe had developed multiple bone fractures.  Then
she
> died 6 days later in the foster home.  Needless to say, there's a court
case
> going on right now looking into her death, and who's responsible.
>
> Gina, I've referred this reporter to you, as you're the closest thing to
an
> expert on T8m that I know of. But is anybody else aware of a link between
> T8m & brittle bones/osteoporosis?  If the allegations of child abuse by
her
> parents are unfounded, then this poor family has suffered more then enough
> loss already.
>
> I've talked to the reporter on the phone, and read an article that she's
> written
> on the case, and she seems to be coming at this with an open mind, just
> wanting
> the tell the truth of the situation.
> http://cbs11tv.com/local/foster.child.death.2.701787.html
>
> Fawna, Research coordinator TRIS Project, mom
> to Thom & Rhonda, Lara, & Philina 25yrs (PT6p
> & Moya Moya Syndrome), Escondido, CA USA
> http://home.mindspring.com/~fawna33/
>
>
>                   Building ___ooOOoo__ Rainbows
>                        www.trisomyonline.org
>                   Families Helping Families On-line
>
>
>       __________________________________________________________
> Sent from Yahoo! Mail.
> A Smarter Email http://uk.docs.yahoo.com/nowyoucan.html
>                   Building ___ooOOoo__ Rainbows
>                        www.trisomyonline.org
>                   Families Helping Families On-line
>

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


      __________________________________________________________
Sent from Yahoo! Mail.
A Smarter Email http://uk.docs.yahoo.com/nowyoucan.html
                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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