“Walking in her Footsteps,” Gabby, 11, Battles Trisomy 14 Mosaic
October 16, 2013
Gabby was born with a rare genetic disorder called Trisomy 14 Mosaic.
The documented cases are less than 100 since the 1970′s.
The doctors knew something wasn’t right with our little baby. It started out as a routine check-up, it ended with an appointment slip to have more tests. In the ultrasound, they noticed that Gabby had a cleft lip, a hole in her heart and limited growth.
I told myself, “This isn’t a big deal. This is all fixable.”
So I made the appointment to have more tests run. I went in for the appointment and the doctor preformed a method called amniocentesis (referred to as amniotic fluid test or AFT), which is a medical procedure used in prenatal diagnosis of chromosomal abnormalities.
Once the test was completed, all I could do was pray that my baby would be okay.
I went on with my daily life: working and trying not to harp on about what the results would be. I left that in God’s hands, not saying I wasn’t scared- because I was. All the unthinkable thoughts started going through my head, a lot of what if’s. I started reading about different chromosomal abnormalities and it frightened me.
Two weeks later, the geneticist’s office called to give me the results. As I was on the phone with them, my stomach was churning. My throat felt tight. I was just feeling all kinds of emotions. The test came back with the results that my baby had none of the chromosomal abnormalities they tested for which was Trisomy 21, downs syndrome- Trisomy 18-13-and 9. I was so relieved that my baby was going to be okay, I thanked God for letting everything be ok with our baby, but to my surprise he had bigger plans.
I went in the next week for my 29 week check-up and my doctor asked “have you been feeling any labor pains, cause you are in labor!”
Well, I never left the doctors office to say the least. I was transported to Forsyth medical in Winston Salem NC where I was given medicine to stop my labor to give my baby’s lungs time to develop more and to give her a chance at gaining more weight. I stayed in the hospital for three weeks so at the end of the 32nd week I went into labor once more, and this time I was prepared to give birth. I was so excited and scared at the same time. I was in labor for 12 plus hours before she made a entrance into the world surrounded by family. Things seemed to be okay all but tiny and the other little things that we had seen in the beginning.
Gabby had to stay in the NICU for three weeks to gain weight and she couldn’t keep her oxygen levels up. She was jaundiced, breathing shallow, that is when our world changed. At three days old,the doctors noticed abnormalities. My baby had a short left arm and leg, skin pigmentation, low set left ear on top of the other seen in the ultrasound. So another genetic test was preformed– this time for the rare chromosomal conditions.
The test came back that Gabby had a rare chromosome disorder called Trisomy 14 Mosaic –”mosaic” meaning not all cells show an extra chromosome on the 14th cell, after the findings the geneticists asked to speak to Gabby’s dad and myself to explain the findings. Well we never imagined to hear the results; I had never even heard of this in all that research I did while waiting for the results to come back on the first test. Her condition never popped up. It was as if it never even existed. We were given a print out about Trisomy 14 with very little information about this chromosome abnormality so I had to research it myself always beginning and ending with the same information: there is no information that would give me any answers, so I joined groups that were Trisomy-related but nothing on T14 was on there because its so rare and the documented cases are slim.
Time has passed. Gabby is 11 years old and the journey has been long, with doctor appointments non-stop, surgeries (e.f. Heart VSD repair, cleft lip repair and five plus ear surgeries)…
Gabby wears a shoe lift on the left shoe to even out the difference in leg length. She is well over the max for her age; we are trying to fiqure out ways to help her other than this massive surgery that may have to come, which is leg lengthing, meaning to put a metal rod in the left leg and turn it X amount of times a day to extend the leg she also has severe scoliosis.
Gabby competed in a pageant back in March in Murphy NC with the Miss Amazing Pageant where she won the NC Queen title and recently competed in the National Miss Amazing Pageant in Omaha Nebraska where she was crowned the NC Princess. Gabby has won the hearts of the nation since reading her story on her web page gabbysjourney.org and in the newspapers. She has been featured on Fox 8- WXII 12 and the Today Show. The Today Show was in Omaha, following the Pageant when Gabby was chosen to be followed by them.
Gabby continues to make her foot prints in the hearts of those who meet her. She has a spirit like no other and her disability does not get her down. She runs with the best of them; she is a cheerleader for the local youth football team called Archdale/Trinity youth football Tarheels.
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