[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


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