[tri-med] Re: Jennifer-Wilm's tumor

----- Original Message ----- 
From: <madjake00@xxxxxxxxxxx>
>>Now that faren has been dx, she
> is getting just regular ultra sounds every 3 months.
>
>
> Michelle,
>
> Should this be done for t-13's too?

It certainly should be for mosaicers, forget the other risks.
In addition to the risk with T- 18, mosaicers are at increased for Wilm's
anyway, particularly if they have hemihypertrophy. It was actually the mum
of a mosaicer who stumbled on the link.

My understanding was that T-13'ers didn't need to follow the same screening
protocol - but I know that Penny does because she knows of a T-13'er who
developed Wilm's. I guess if I was the mum of a T-13'er and given that a
number of the trisomy variants are at increased risk for Wilm's and given
that the screeing is non-invasive I probably would - but then I am a worry
wort :-)))

Here is a post I made a while back (cut and spliced - I am lazy)

>>The history behind the Wilm's Tumour alert started about 10 or more years
ago.
Children with mosaicism and hemihypertrophy have always been known to have
an increased risk of tumours, particularly Wilm's. One of the mums, Joan
Harper (Kyle T-18 mosaic) was aware of this and doing the regular screening.
As she spoke to other mums she started to see more and more T-18 children
developing Wilm's tumour so she raised this with Dr Carey.

There were a couple of cases only reported in the literature but indeed they
felt (10 years ago) that the 6 known cases of Wilm's Tumour (and that
includes heptablastoma's - a similar type of tumour in the liver) in
surviving T-18ers within the US was significant. As a result it was
suggested that children with T-18 have regular screenings for Wilm's Tumour.

Since then there have been even more correlations in the literature between
chromosome 18 and Wilm's Tumour. >>

The number children with T-18 developing Wilms is increasing and the link is
pretty wll confirmed now. We have met three of them on the list - Faren,
Dylan, and Bobbi.

The screening guidelines for T-18'ers are the same as with
Beckwith-Wiedemann Syndrome (Beckwith-Wiedemann Syndrome is actually Trisomy
11p). There has long been a correlation between Beckwith-Wiedemann Syndrome
and Wilm's. Last time I formally spoke with John Carey on the subject he was
recommending every 3 to 6 from birth until age 15 years. However I have seen
articles by John where that recommendation has been 6 to 12 months.

The 15 years is noteworthy because Wilm's is normally considered a childhood
cancer, actually the most common childhood cancer. But one that is not
normally seen after the age of 5 - thats not the case with T-18'ers though.

As to whether to do a CT scan. Thats a difficult one. Ultrasounds are easy
and non-invasive, they require minimal co-operation from the kids. However
they are limited. The gold standard for detecting Wilm's is a CT scan or
MRI.

I know that Alex's doctors and the oncologists I have spoken with have
recommended having a CT scan of Alex's kidneys every few years in addition
to the ultrasounds. Ultrasounds can't clearly see the back of the kidneys or
liver and I know Alex's kidneys are differently placed and are often
"hiding" during the ultrasounds. A CT can more easily detect nephrogenic
rests - something that can be an early precursor to Wilm's.

Personally we do the scans every 6 months and we have had the CT scan done
but I did wait until Alex was 5 and could co-operate with a CT and not be
sedated.

When they do the scan make sure they check out the gall bladder as well for
stones - something else our kids tend to be at greater risk for. (that means
fasting before the test - something we used to not do with Alex because of
the hypoglycemia)

Just beware when you have the ultrasounds that it carries the same risks as
every other test - we may discover more about our kids than we really wanted
to know. Thanks to the Wilm's screening we discovered that Alex has a psuedo
dual collecting system in one kidney which we now also need to keep an eye
on. He also has two spleens (its not uncommon for for T-18'ers to not have
any - trust my darling to have two)

We are also choosy as to which facility we go to for the ultrasounds. We
choose one where they have a specialist pediatric x-ray facility and Alex's
file is flagged to be personally read by the pediatric specialist. We used
to use the one at the private clinic at the Kid's hospital but they missed
too much in his earlier ultrasounds (eg failed to report the dual collecting
system etc)

We can not change the wind. But we can change the sails.
~Ghandi~


Keep Looking For Rainbows!!
Karen, Mum to Alex (8 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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