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!”

WOW.

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.

13 thoughts on ““Walking in her Footsteps,” Gabby, 11, Battles Trisomy 14 Mosaic”

  1. shelbi wagner says:

    My daughter, Presley, was diagnosed today with Trisomy 14 mosaic. I enjoyed this story. Please feel free to email me. Thank you!

  2. nathan says:

    My son ethan was born with trisomy 14.we spent 11 and a half month in nicu with him. He will be 11 in coverOctober

  3. Skip Stockbridge says:

    My son Christian also has t14 he is 17 he is the strongest person I know. He is a cancer survivor and autistic. But lives life with a smile.

  4. Val says:

    Such a wonderful and beautiful story. My son is 15 mths and recently informed that he has an extra piece of chromosome on #14. I have been researching to learn more about this rare condition. I feel much relieved after reading your story about your beautiful daughter and the other comments that were made.

  5. ineke knight says:

    My grandson is 11 years old and has trisomie 14. He is the most lovely boy and for us the blessing of the family!

  6. linda craig says:

    Thank you so much I have searched years upon years to collect so much info on this Rare disorder… I would love to hearmore

  7. linda craig says:

    Thank you so much I have searched years upon years to collect so much info on this Rare disorder… I would love to hear more

  8. Khalid says:

    My son also is t14 he is 11 monthes and just want to now if he may be has type of cancer or not

  9. Helen Smith says:

    My friend has Trisomy 14 mosaic and he is now 32. I believe he’s the oldest in the world with this problem.

  10. claudia says:

    Hi, my son is 3, he has this disorder, i would like to know how is your friends life style i mean he strugles or he has a normal life?

  11. Kelly says:

    I just had a 12 week miscarriage. My poor baby passed at 8 weeks 5 days. They did the testing on my baby and turns out the babe was a girl and had Trisomy 14. We of course were sad and devastated. God bless all of your little miracles. We would have loved to have our baby girl.

  12. Beth Coughlin says:

    I just came across your comment from last year. My daughter is 9 and has trisomy 14 mosaic. We might be able to give each other some insight about those. I’d love to hear from you.

  13. nilam says:

    hai…my name is nilam..i’m from malaysian…my second bby is gurl was diagnosed with trisomy mosaic 14…3 month in the hospital n have 3 scars from opertion head…now my bby 10 month …i want to learn more about the trisomy mosaic 14…..

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