[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

Other related posts: