[tri-med] Re: TRISOMY 17

Sharon,

I'm sorry the first few months were so rough on you.  I do think we all have
had regrets and moments when we wish our kids were "normal", or even
resented them for taking our lives.  When Elanor was a baby, she was sick
all the time, couldn't eat from a bottle, was never happy, never smiled,
cried constantly.  I barely remember the first year of her life.  I was
having anxiety attacks almost daily, and I could barely function.  I took
Zoloft for about a year, and it helped with the anxiety and some depression.
Don't think you are alone in your regrets.  It is so hard to go through a
pregnancy and instead of a joyous occasion, the birth is nothing but sorrow
and hardship.  Looking around at other moms and their cute chubby babies who
are making developmental milestones by the leaps and bounds, while your baby
is struggling to survive is heartbreaking.  We all feel your pain--to
different extents, but we do feel it.  But now the good news!  You made it
through, and what a joy your son is and can be!  I truly believe that our
kids are a gift from God.  They have such joy in the few things they can do,
and their smiles light up the world!

Theresa, you will have hard times coming, but you are with kindred spirits
here.  We are here for you.  Make sure you take all the help you can get,
and surround yourself with people who care.  It makes all the difference.
If you can get nursing care at home, it is a lifesaver.  It will allow you
to know that your baby is being cared for, and will allow you to rest and
get some time away.  When we have nursing care, it makes us feel like we can
be mommy and daddy again.  Otherwise, we get frustrated and worried all the
time because we don't get to enjoy Elanor, it just feels like a job.  I'm
not sure if I explained that well, but I hope you get the gist.  



Jennifer Vanderbeek
Meridian, ID
Mom to Arwen, 10; Elanor (T18), 8; caregiver to Joe (CP), 29, and wife to
Andrew

Visity Elanor's Caringbridge site at:

http://www.caringbridge.org/visit/elanoranne 



-----Original Message-----
From: tri-med-bounce@xxxxxxxxxxxxx [mailto:tri-med-bounce@xxxxxxxxxxxxx] On
Behalf Of shamond73@xxxxxxx
Sent: Tuesday, May 27, 2008 9:26 PM
To: tri-med@xxxxxxxxxxxxx
Subject: [tri-med] Re: TRISOMY 17

hi theresa,
i have a little boy, 11 months old,?who has trisomy 17p mosaic (not in every
cell). i also had an amnio at about 20 weeks and it showed trisomy 17p
mosaic. we had our tests run again at signature genomics lab, they are very
good, and then the amnio sample was also sent to emory university and tested
yet again. My husband an i were also tested to see if we had this chromosone
deviation. which we did not.

right after i got those results, i went to see a genetecist and they also
told me that i was one of 7 or so cases in the world. They told me my son
would be mentally retarded and severely handicapped. when they were
explaining things to me about the p and q arm of the chromosone, i was also
told that full trisomy 17 does not exist as it is not compatible?with life
and would result in a miscarriage. so i undestand why your lab is saying
what they are saying- that is why maybe you should have your amnio results
sent to a different lab? 

i was up nights doing research trying to find anything i could on the
interent, at this point after getting all the resulst and seeing geneticist
i was already 24 weeks and i felt it was just too late for an abortion and i
would just deal with what was dealt me. i went back and forth alot, but my
decision which is such a personal decision, was to go on with the pregnancy
and hope my son would be minimally affected by this trisomy. especially
since it was mosaic i was hoping for a miracle.

it was not until after he was born that i found?carolines mom, Irene, and
from her website journal, i saw all these Trismoy 17 families writing in
about all their trisomy 17 kids and i could not believe it. You should look
at it. she pointed me here and i have gained so much knowledge and support
from this site. i also got a pamphlet on trisomy 17p from UNIQUE. their are
alot of? trisomy 17 kids out there, all different, some very affected, some
not as much, some walk, some don't, some talk, some don't, everyone is
different, depending on which bands of the chromosone were duplicated.

my son Jason is now 11 months old.?when he?was born he had some issues.- He
had no sucking reflex, had a club foot, some bent toes and a bent finger. He
has a bicuspid aortic valve ( normal is tri-cuspid) which is functioning
fine, a hernia and an undescended testicle. he had an MRI and it showed
everything was structually okay with his brain. The only issues we had in
the hospital was his feeding. he was released after 5 days and we took him
home when they were satisfied with his intake. 

We immediately went to an orthopedist and his club foot was/is in the
process of being?corrected with numerous castings and special shoes with a
bar between them using the ponsetti method. its really not a big deal, just
initially alot of orthopedist drs appts. He also?just had his hernia and
undescended testicle surgically repaired.. we have to follow up with his
heart yearly and his finger is being stretched through Physical therapy and
should not need to be surgically corrected. he also got a feeding tube when
he was 8 months old, feedings were just too slow and difficult and he was 8
months old and 12 lbs, severe failure to thrive. so basically, everything
has been taken care of, or is being handled. he still has bad reflux which
started at about 2 months old, and i find that to be the most?difficult
thing on a daily basis.

he is now 11 months old, and weighs 15 lbs, (gained 3 lbs since he got the
tube) he is the sweetest boy ever and up until 3 months ago, i regretted
having him. i have never heard anyone else on this website say that, but i
am being very truthful, when i say i regretted not having an abortion and
felt like my life was over during the first few months of his life. 

The first year was?so hard for me, i was sad and angry and tired. all i?did
was run to?drs appointments CONSTANTLY and worry about his health and his
future. i spent hours and hours trying to feed him, and all he took was a
few ounces that he would reflux and throw up anyway. i did not allow myself
to fully love him because i thought he would be taken away from me at any
moment. i used to look at him and think, how could he live, he is so
tiny??......BUT the turning point was really when he got his feeding tube. i
was finally able to relax and enjoy him. i didn't worry as much because i
knew he was getting his nutrition via tube and he started growing and
thriving. and now, wow do i enjoy him, he is the cutest and sweetest little
boy in the whole world. he is so warm and snuggly. he smiles and laughs and
he reached for his toys. not perfectly, but he tries. he even sat up (when i
placed him in that position) the other day with his hands on his legs
supporting himself for 7 mi
 nutes! what an accomplishment. he gets alot of therapy, Physical,
Occupational, special ed to help him with tracking and toy playing and
feeding, and speech/language therapy. Without them, i don't think he would
be doing as well as he is. And he gets a lot of Love.?

 i just wanted you to hear firsthand what i went through emotionally and
what problems Jason was born with. There are children with trisomy 17 who
are more affected than him. Thank g-d he is not medically fragile. he has no
life threatening major anomolies, nor did he ever.

When i think of where i was 3-4 months ago and where i am now, its like a
180. i am happy again. i never thought i would have another happy day again
in my life, and i am actually happy again. i accept my son exactly the way
he is, however he turns out, it does not matter, i love him for however he
is.?With acceptance came peace. 

i really feel for you, i know exactly what you are going through. its so
hard where you are at now and i wish you the best. if you want to talk
"offline" you can contact me at shamond73@xxxxxxxx i remember when i was
doing my research reading about that thing you are talking about with the
back of the brain, i don't remember what it means but it was one of the
things associated with trisomy 17- you should consult and neurologist and a
cardiologist to find out what these brain and heart issues will mean for
your child.

all the best,
Sharon










Hello,
   I am a 36 year old women who is currently 20 weeks pregnant. After
receiving 
an amnio I have since found out this baby has full Trisomy 17. The lab has 
tested all available cells they had and each and every cell has the extra
17th 
chromosome. I have been told by this hospital they have never had a single
case 
of this. They also said they have not heard of a case where the baby has
lived 
to 20 weeks. In addition the level 2 ultrasound showed heart problems, club 
foot, and problems with the back of the brain, and a 2 vessel cord. 

After searching the internet I can not find much information on this
problem.

I am interested to know if any hospital or research facility has any
additional 
information and can any additional research be done to maybe learn more
about 
this, possibly to help someone else down the road. I thank you in advance
for 
any help you may provide.

Theresa




-----Original Message-----
From: Lace4Blitz <Lace4Blitz@xxxxxxxxxxx>
To: Tri-Med@xxxxxxxxxxxxx
Sent: Mon, 26 May 2008 8:33 pm
Subject: [tri-med] TRISOMY 17



Hello,
   I am a 36 year old women who is currently 20 weeks pregnant. After
receiving 
an amnio I have since found out this baby has full Trisomy 17. The lab has 
tested all available cells they had and each and every cell has the extra
17th 
chromosome. I have been told by this hospital they have never had a single
case 
of this. They also said they have not heard of a case where the baby has
lived 
to 20 weeks. In addition the level 2 ultrasound showed heart problems, club 
foot, and problems with the back of the brain, and a 2 vessel cord. 

After searching the internet I can not find much information on this
problem.

I am interested to know if any hospital or research facility has any
additional 
information and can any additional research be done to maybe learn more
about 
this, possibly to help someone else down the road. I thank you in advance
for 
any help you may provide.

Theresa  
                  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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