[tri-med] Re: Partial Trisomy 1, Partial Monosomy 6

Hello.
Yes, my husband and I were tested after Timmy was born.  It turns out my 
husband has a balanced triple translocation between the 1,2, and 6 
chromosomes.  Part of the 1 is on the 6, and this is why my children have had 
the chromosome abnormality.  The doctors told us that of the combinations 
possible, this is the mildest.  It sounds like you are in the same situation.  
If the children would get all of the good or all of the bad chromosomes, they 
would be "normal".  But all of mine got only the unbalanced 6.

Timmy and Sheila both had seizures, but Becky doesn't.  Thank God!  Once Timmy 
and Sheila developed the seizures, their condition started deteriorating.  I 
was very concerned that Becky would develop seizures, but she hasn't.  To look 
at her on paper, you would not expect to see the girl she has become.  She 
started walking when she was 6.  She is g-tube dependent, though we are finally 
getting her to take small amounts of yogurt and baby food by mouth.  She has 
spina bifida, cerebral palsy, hydrocephalus and Arnold Chiari malformation.  
She had surgery a few years ago for scoliosis.  She has feeding issues.  She 
has both obstructive and central apnea, so she is on a bipap machine at 
night.  She is on oxygen at night, as her O2 sats drop during sleep.

I am curious if Tiffany had any miscarriages.  I had one between Timmy and the 
girls.  People asked me if the fetus had a chromosome abnormality.  I never 
asked the doctors, and I doubt they tested the fetus.  I didn't want to know 
anyway.  It would have been devastating to find out I had miscarried a 
chormosomally normal child!!

Thank you to everyone for the warm welcome.  I hope to learn about your 
children, too!

Sue



________________________________
From: Tiffany Sprishewsky <tiffanysprishewsky@xxxxxxxxx>
To: tri-med@xxxxxxxxxxxxx
Cc: tiffanysprishewsky@xxxxxxxxx
Sent: Tuesday, January 27, 2009 2:32:58 PM
Subject: [tri-med] Re: Partial Trisomy 1, Partial Monosomy 6

  Hello, this will be my first post on the site too. So forgive me if I mess 
up. I have two boys Paul 13 and Danny 10.. They are both severely mentally 
disabled. Along with that other health problems have come and now were dealing 
with seizures, which they have always had but now the meds don't seem to be 
controlling them.  Anyway, Three years ago we finally found out their 
diagnosis. They have a partial monosomy of 6q and a partial trisomy of 8q. They 
inherited it from me which means I'm a balanced translocation carrierer and 
they are unbalanced. I was wondering if Sue and the childrens father were 
tested for the chromosome disorder? And yes I also would like to see if there 
are anybody else with this same rare translocation?   Thank you. 
 
Tiffany Sprishewsky
--- On Tue, 1/27/09, jwaite <jwaite@xxxxxxxxxxxxx> wrote:

From: jwaite <jwaite@xxxxxxxxxxxxx>
Subject: [tri-med] Re: Partial Trisomy 1, Partial Monosomy 6
To: tri-med@xxxxxxxxxxxxx
Date: Tuesday, January 27, 2009, 10:54 AM

----- Original Message ----- 
From: "Sue Stockton" <tgsrrs@xxxxxxxxx>
> This is my first post to this site, and I'm curious if anyone else has
a 
> child or children with this particular diagnosis. I have had three 
> children with this condition. Two have died. My son, Timmy, died at the 
> age of 2. My daughter, Sheila, died at 11 1/2 months. Her twin sister, 
> Becky, is 12 now, and has many physical diagnoses, and mental retardation.

Hi and welcome Sue! Glad you've found us but sorry you had a reason to do 
so.

First off, I can't even come up with adequate words to say with the loss of

your 2 children..........hugs to you at the very least.

Secondly, those of us without a tri-18 or tri-13 diagnosis are considered 
'rare, rares'. Tend to be few of us around.
Don't think anyone here has the EXACT same diagnosis (same is true for
quite 
a few folks around here) as you dealing with.

While our kids may not have the same dx often they share many common issues 
be they medical, physical, emotional, social, etc.
If you have any issues or questions there is often someone here who has had 
some experience, knows a direction to send someone for help or at least a 
word of encouragement.

You just never know where a question or comment will lead that benefits so 
many in some way! (a 'behold the power of the list' moment).

I look foreword to hearing more about Becky.

Michelle mom to Alex (21, partial trisomy 14 mosaic) and Molly (18)
MichiganUSA


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




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


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

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