My daughter Sophiella has INI 1 gene mutation
Neither parents have it
No known related disease in either of families

--- In ATRT@yahoogroups.com, M Kees <mkees73@...> wrote:
>
>
> Tara,
>
> Great question, and good area to explore further. There hasn't been alot of
discussion
about genetic issues on our ATRT board, and it is an area of critical
importance.
>
> Could EVERYONE answer the following question:
>
> Has your child had the genetic testing?
> What were the results?
> For those with the INI1 deletion, is it just in your child or also in a
parent?
> Any with a family history of schwannomas or neurfibromas?
>
>
> I will go first.Andrew Padfield
> INI 1 deletion in the tumor and in all cells
> Neither parent has the deletion
> Andrew's great grandfather died from a brain glioma in his 60s.
>
>
>
> To: ATRT@...: DegoBoo02@...: Thu, 16 Oct 2008 05:32:08 +0000Subject: [ATRT]
Schwannomas and ATRT
>
>
>
>
> Many of you may or may not know of our our daughter, Mattea. She was diagnosed
with
ATRT in July 2006. We obtained one of the last openings in THE PROTOCOL that
many
people are now basing their own treatment off of. Mattea will be 2.5 in November
and is
doing wonderfully. She is 27 months from diagnosis and 1 year off of treatment.
Her most
recent scan, on August 25th, was stable. As far as she is concerned, things
couldn't be
much better.When we realized we were pregnant with our second child, we
underwent
extensive genetic testing in hopes of ruling out suspicion that our experience
with ATRT
was the result of a genetic issue. Unfortunately, we were told that Mattea, and
my
husband Mike both have the INI-1 gene mutation (and in their case, a total
deletion).
Further testing revealed that our second child, Mackenzie, does not have this
mutation.
One of the primary issues that Dr. Biegel (Children's Hospital of Philly) is
trying to address
is, why do some people with INI-1 suffer from these vicious cancers while others
with the
same mutation develop benign schwannomas and neurofibromas. So far, it's a
mystery.
Anyway, we are now a multi-generation family with the presence of this gene
mutation
and the following: ATRT, possible medulloblastoma (diagnosed in the early
1960s),
Schwannoma, and Neurofibromas.Has anyone else had an experience similar to this?
I
know it's a long shot, but I'm trying to gather any information I can that could
be
anywhere close to what we're experiencing right now. Thanks,Tara Lesorgen
>
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