Sunday, August 11, 2013

Trisomy 13 Isabels Story

Trisomy 13 has held a special place in my heart simply because of Lexi (Alexis Harlow) She was an angel sent down for us to have just a glimpse of what heaven is truly like. Lexi had me reading everything about T13 and finding others that had a child with T13. Even though she was not mine I felt a connection to her in a way she was mine in spirit She reminded me of our Sweet Mighty Z and I am thankful Lexi gave her mommy to me. Since Lexi has gone to heaven her mommy has picked up Lexi's torch you can find out what Lexi and her mommy have been up to here.




Because of Lexi I was fortunate enough to find Isabel. You well never know a little girl with as much fight and heart as sweet Isabel and the mommy who fights for her.



          Here is Isabel's Story





I always knew growing up that I wanted a big family. When we found out I was pregnant with my fifth child my husband and I decided that I would have my tubes tied. Five was a good number and I felt we had contributed our share to society. Well apparently God had other plans. During my c-section my doctor was unable to find one of my tubes so we decided to fore go the ligation.



 Well 8 months later we decided we wanted one more. We had 3 boys and 2 girls so we said why not, one more girl to make it even. We tried for a few months with no luck, then we tried Clomid to increase my ovulation, well 2 months of that was enough for me. The side effects were way too harsh. After another 3 or 4 months we decided to leave it in God’s hands. Well, three days before my 31st birthday I got a positive pregnancy test. This is where our journey began.


From the beginning this pregnancy was different. I bled on and off for the first three months and was terrified that I would lose this pregnancy. As we approached the second trimester the fear started to ease. I soon found out that we were indeed completing our family with a baby girl an even team of three and three. Weeks were turning to months and slowly I started to feel uneasy.



 Isabel was not as active as my other pregnancies but the doctor chalked that up to my anterior placenta. He said I probably couldn’t feel all the moves because my placenta was in the front of my uterus and not the back. I tried to accept this but my mommy instinct knew better. I always loved being pregnant but with this pregnancy I did not feel the same. I didn’t FEEL pregnant, I couldn’t excited and I had an overwhelming feeling of doom.



I knew I was at a high risk for complications with an anterior placenta and a previous c-section scar, I really thought I was going to die and not get to see my little girl, I thought the fear of doom was about me. Well, I was close but not quite. On a snowy morning in December of 2013, the 14th to be exact I delivered a beautiful 7lb 8oz baby girl via c-section. She would change my life from the moment she was born. Imagine being strapped down to an operating table and hearing the words “can I get some help with this baby!!” My baby girl needed to be resuscitated. They got her breathing gave me a chance to kiss her and whisked her off to the NICU. 24 hours later she got the all clear and was in my room, this is when I noticed my baby girl was special.


 You try to convince yourself as a parent that the little things you are noticing are OK, because every momma wants her baby to be OK. The more I held her the more I noticed, a floppy ear, clenched fists held against her chest, and something was just different in her face. I will confess I was sad, I was confused and I tried to cover up her differences. Not because I was ashamed but because I did not want anyone looking at my little girl in a different way. People can be cruel and I was not ready for the questions or remarks. The doctors assured me she was fine and we went home 3 days later.


 All was not fine. At 5 days old Isabel coded at home, we started chest compressions, rescue breathes and called 911. I will never forget looking at my little girl turn purple and thinking I was going to lose her. Well that night I cried to her in the hospital and said how sorry I was for not being more accepting of her differences and for being scared about having a special child. I promised her if she pulled through this I would be her number 1 advocate and the most amazing mother to her. Well baby girl listened and 2 days later we were sent home with a diagnosis of an ALTE Apparent Life Threatening Event. The doctors assured me this would not happen again.



Well it did happen again and again, we know now that she had APNEA and seizures due to her diagnosis. We ended up in the hospital again for failure to thrive at 3 weeks old. We got a consult from nuero, the first thing the neurologist asked was if anyone ever told us that Isabel had dysmorphic features. No, but we knew that and we were telling people all along that something was wrong. At 5 weeks old Isabel was admitted to the PICU for uncontrollable seizure and had to be
intubated.


I remember rubbing her forehead and crying and telling her how sorry I was that this was her life. I thought this was the end, she was intubated, she couldn’t breathe on her own and the seizures would not stop. They finally did stop 5 days later. Now we were waiting for her genetic testing to come back. The next few weeks are a blur of more consults, more abnormalities and then a diagnosis. Patau Syndrome, Trisomy 13. As I sit here crying I will never forget that day, I remember researching and scouring the internet and everywhere I turned were the words “incompatible with life.” I remember looking at my husband and telling him “I can’t lose her.”


Isabel has the mosaic form, so only 20% of her cells have an extra 13th Chromosome. She does not have any major heart or brain issues, the doctors were honest and said they just don’t know. They don’t know enough about mosaicism, they can’t give us a definite prognosis. Her geneticist was very adamant that she does not have any life shortening abnormalities, but of course with her underlying syndrome you just never know. Isabel is 2 ½ now. She has seizures, she is trached and g-tube fed, she has sever cognitive impairment, but she is here and she is a fighter.


Isabel will be attending pre-school in the fall and I think she will do great. There are days when I can look at her at almost forget about her syndrome. Those are the days I love the most. Then the moment will hit when she seizes, runs a 105 temp, or just gets sick. Those days are unbearable. I cry and I fear and I always wonder if this is it. I never bought bigger size clothing for Isabel, and I never allowed myself to think in the future. I often wonder what will happen when it comes time for her to go.


 I wonder if she will feel it, will she know she is leaving us, will she be sad or scared. Through my tears I type this because it is a though NO PARENT should ever have to face. I love that little girl with every inch of my being.


I confess I get angry with Trisomy, I want more for her, I want her to experience everything life has to offer. I wonder how Isabel would be without it. What would her personality be like? What would she want to be when she grows up? Would she want a lot of kids like me? I will never get the answers to these questions. Yes, I am angry but I am also thankful. Isabel is here and she is fighting and she is living. Then I realize Isabel had the best of everything, she knows nothing more than love, happiness and comfort.


She gets more heartfelt love from her parents and her amazing siblings than most people get in a lifetime. Her Trisomy does not define her, Isabel charts her own course. She has taught our family to love, to enjoy and to LIVE!! The little things are less important in life now. The dishes can stay dirty long enough to watch a family movie, the living room can stay cluttered so we can camp out on the floor. Memories are what life is made of. I still don’t know what the future will hold for Isabel.


Honestly, do any of us know what the future holds for us? They are children that pass suddenly and parents who wish they had more time. Thankfully I have the knowledge of the unforeseeable. I know to enjoy each moment and make the best of it. I try not to allow my thoughts to wander to far, that would just drive me crazy. Every time I hear of a child with Isabel’s syndrome dying the thoughts flood me again.


Many of friends are on the other side of this journey, their children are playing together in heaven. I find strength in them and admiration, I know when it’s time they will be rocks. I have a friend whose daughter is mosaic like Isabel and she is 25, I find her hope in her and she has become one of my closest friends. I will love Isabel and care for her for as long as she allows me to. I know I was chosen to be her mom for a reason and I embrace it. I am a better person and mother because of Isabel and I could never thank her enough for that.


 My little girl has special needs and I am a proud special needs mom!!01 02 03
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2 comments:

  1. Thank you for letting us share our story. I hope that it inspires people and shows hope to family facing a trisomy diagnosis. These children all have their own stories to tell.

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  2. My son, Elliot has a partial Trisomy 13 with a deletion of 14. We have been told as well that his chromosomes are "not compatible with life". His chromosomes have never been documented in the medical world and so we have yet to meet a doctor that can tell us what to expect. True miracle children is what these kids are. It's always wonderful to hear about other parents going through the same thing. Thank you for sharing your story with us, I really appreciate it. You can find me and my family at annastarrbird.blogspot.com

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