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Makily
DOB: 4-1-04 Emanuel Syndrome (partial trisomy 11/22) Mom Trish Florida
My name is Trish I am 26
years old, my husband is Allen and he is 36. We started trying to get
pregnant May of 2002. After a long 15 months and numerous fertility
tests I became pregnant with our first child in July of 2003. I had a
normal, healthy pregnancy. On April 1, 2004 I gave birth to our daughter
Makily Ashtyn. I knew before she came out that they were going to have
to suction her a lot because there was meconium in the fluid when they
broke my water. As soon as she came out they took her to the warmer and
I kept waiting and waiting to hear her cry. Finally after what seemed
like forever she did.....it was soo weak I knew something wasn't right.
They were rushing her out of the room and stopped by my bed for me to
see her when I noticed a skin tag on her cheek, when I asked what it was
the nurse said "it's a skin tag she has 2 more and also a cleft
palate" and then she rushed out with my daughter in her arms. I was
upset but thought skin tag? cleft palate? how did that happen? Fixable.
About an hour later I still didn't know what was going on. My husband
came in crying. He told me they would have to take the baby 30 miles
away to a hospital with a NICU because she needed to be intubated. I
began bawling. I couldn't leave the hospital. I wanted to be with my
daughter and could not, I looked forward to this time with her for so
long and it was so terribly messed up. They let me see her before they
took her and she was struggling so hard to breathe. She was just 5 lbs
10 oz strange for a full term baby I kept thinking. The next morning my
doctor let me leave the hospital and myself, my husband and parents went
to see the baby. She looked awful, her head was terribly swollen and
bruised from the delivery, her eyes were soo puffy and she had so many
tubes and wires coming out of her. They told me a geneticist would be by
to talk to us as they thought she may have a genetic problem. This
scared me but I thought "no not me, not us, won't happen to
me". They checked her heart, kidneys, brain....all came back
normal. Again I thought see she's fine it's just a cleft and some skin
tags no big deal. Then the geneticist came in when she was a week old.
He took us into a room with 2 or 3 other doctors, his assistant and a
social worker walked in soon after. I thought this is gonna be bad. He
told us the baby has trisomy 22 and then said he is sorry. I was feeling
so panicked I didn't know what that meant, I was afraid to ask. The
first thing out of my mouth was "what does this mean for her?"
His words I will never forget: "Makily is going to be severely
mentally and physically handicapped" I wanted to die right then and
there. In between my tears I asked if she would walk, he said I don't
know most likely not......I felt like someone punched me in the
stomach....then I asked if she would be able to talk he said again most
children don't. He went on to say it was very rare and that he really
had only seen 2 cases of this. It was all a blur. I wanted to run out of
there screaming how unfair this was. Makily is now 2 months old. She has
been home from the hospital for a month now. Things are better, I am
more hopeful. She acts like a "normal" baby and sometimes I
have a hard time believing that she is not. The constant reminder is her
G tube she has to have to eat and all of the endless doctors
appointments. I am coming to terms with this and falling more in love
with my daughter every day. I am trying to focus on all the things she
can and will do instead of the things she won't and I believe that will
get us through.
Trish |
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HEAD OFFICE - for ALL inquiries:
Chromosome 22 Central, c/o Stephanie St-Pierre, 338 Spruce Street North,
Timmins, Ontario, Canada P4N 6N5 tel: (705) 268-3099, EMAIL: steph.stpierre@gmail.com
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