[tri-med] Re: TRISOMY 17 - Sharon

Sharon,
Wow.  That is all I can say.

I am so amazed at your story.  And so incredibly happy at how happy you are
now!  Jason sounds like he is doing great and he also sounds like a very
happy little boy.  That is one thing that always amazes me about Caroline.
She is the happiest, sweetest child I know.  And I have grown to be
completely proud to be her mom.

Take care and have fun celebrating the big ONE YEAR birthday!  I can't
believe it is already here!

Irene

On Tue, May 27, 2008 at 11:26 PM, <shamond73@xxxxxxx> wrote:

> 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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