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

I'm in San Bernardino, California.  I can relate to what you said about Tess 
having other ideas.  When Timmy died, the geneticist who did the testing on all 
of us said he was surprised that Timmy lived as long as he did.  He was 2 years 
and 2months old when he died.  And Sheila gave the doctors fits.  It's probably 
more accurate to say that I gave them fits.  They kept wanting me to sign a DNR 
order on her, and I wouldn't do it.  I figure God decided when she came into 
the world, He'd decide when it was time for her to leave!  Anyway, she lived 
longer than they thought she would, also.  So I don't put much weight on 
prognoses anymore.  The doctors don't know.  
I remember a line from a Cher movie where she had a son with some kind of 
disablilty.  I don't remember what it was, and it doesn't really matter.  She 
took him to see a new doctor, who told her that he had about 6 months to live.  
She told the doctor that if she had dug his grave everytime some doctor gave 
her that prognosis, she be in China by now!  I thought that was a pretty good 
response!

Becky ate pretty well until she was about 18 months old.  Then she cut her 
intake in half.  She's had a g-tube since she was 2.  She talks some, and 
communicates very well.  She understands everything!  She also had a great 
disposition.  She is very loving, and gives lots of hugs and kisses.  She knows 
no strangers!  I wouldn't trade her for the world!

Thank you for sharing about Tess.



________________________________
From: Jocelyn <jknowd@xxxxxxxxxx>
To: tri-med@xxxxxxxxxxxxx
Sent: Tuesday, January 27, 2009 4:33:22 PM
Subject: [tri-med] Re: Partial Trisomy 1, Partial Monosomy 6

Tess, who is nearly twelve, has recently had a g-tube fitted. She ate 
quite well for the first few years of her life, but then began 
refusing to eat, and became undernourished. Tess was also on CPAP and 
then BIPAP for sleep apnea. She is also on seizure meds. She 
developed pulmonary hypertension about three years ago. They told us 
she would probably last 18 months, but Tess has other ideas. Tess is 
a great little girl with a wonderful sunny personality. She 
understands a lot, but can not speak. That doesn't mean she doesn't 
communicate. She sure lets you know when she is displeased. We live 
in Sydney Australia, where are you?

At 10:35 AM 28/01/2009, you wrote:
>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
>
>
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>                  Building ___ooOOoo__ Rainbows
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>25/01/2009 6:13 PM

"What does an ant know about the Universe?
Just because it has no knowledge of the Universe
Doesn't mean it doesn't exist"

Jocelyn,  wife to Frank,  Mother to Ian, Gillian and Susan, Nanna to 
Carly 21  Mathew 20,  Ashleigh 19, Alex 16,  and Tess  (Trisomy 18,) 
age 11 yrs,  & Benny the Maltese, plus one amazing DIL and two 
amusing SIL's of whom I'm very fond, and their extended family who 
are too many to list here.  

                  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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