[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
>
>
>                   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
>
>
>
>No virus found in this incoming message.
>Checked by AVG - http://www.avg.com
>Version: 8.0.176 / Virus Database: 270.10.13/1915 - Release Date: 
>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

Other related posts: