Gabby

Age: 14
Duplication: 46,XX,der(22)t(4;22)(p12;p11.2)mat

Lives in: Iowa

Our journey began before our daughter was even born. When I was around 7 months pregnant, my doctor thought I was measuring small so he sent me for an ultrasound. When the ultrasound was done, the doctor came in and told me that they had found a couple of concerning things. The scan showed that our baby had a Horseshoe Kidney in which her two kidneys are attached and make a horseshoe shape. It also appeared that the ventricles in her brain were enlarged leading the doctor to believe that she had Hydrocephalus. We were told to return in a few weeks for another scan to see if the ventricles had gotten any larger. We were relieved to find out that they had not grown, but were told that because of the two anomalies, she would need further testing once she was born. Those last couple of months were awful, not knowing if there was something wrong.

  
Gabrielle Elizabeth Dodd was born on August 13, 2000. Three weeks early, weighing in at 6 lbs 1 oz. and with a full head of black hair. I thought she looked perfect. A few hours after her birth, a doctor came to our room letting us know that they had noticed some things about Gabby that were causing concern. Low set ears, rocker bottom feet, clenched fists, flat nasal bridge, wide spaced nipples……..the list seemed never ending. Because of all of these things they were ordering some tests. The day after she was born, we got her first test back……her brain scan, which came back not showing Hydrocephalus, but Agenesis of the Corpus Callosum. She was missing a piece of her brain. The piece that connects the two hemispheres of the brain. The next day Gabby was taken down to the NICU to have a NG feeding tube placed because was having a hard time feeding. A week after she was born we were taken to a small conference room and told that they had done chromosome testing on Gabby and that the test showed she had Duplication 4p. They informed us that this was very rare and that there were only 80 some know cases in the world. We were handed a few photocopied pages from some medical book, told that many of these babies don't live past a year, and sent on our way. Gabby was released from the hospital 14 days after she was born. 
We later found out that I carry a balanced translocation, which is why Gabby has her unique chromosome arrangement. Because of my arrangement, my children can be born with a balanced translocation like me, an unbalanced translocation like Gabby, or completely normal chromosomes. We somehow struck the chromo lotto and ended up with one of each!

Her first two years of life were spent in and out of the hospital with reoccurring pneumonias, which was difficult, but other than that it was like taking care of any other baby. She was slow reaching her milestones, late crawler, walked at 2.4 years, non verbal, but we knew that was to be expected. Things went along pretty well until she was in Kindergarten. One day she just started falling down for no apparent reason. I took video of it and showed it to her doctor. I could see the immediate concern on her face. It was seizures. Her EEG showed she was having 40+ seizures a day, many of which were Drop Seizures. She would be standing up and running around one minute, and crashed to the floor the next. She broke her arm twice and ended up with stitches on her ear from the falls. She has been on several different meds over the years, and did the Ketogenic Diet for a year, which has brought her seizures down to typically 1-5 seizures a day. We are hoping that Gabby will get to be part of a Cannabis Oil trial that her neurologist is going to be starting this summer.

Also while she was in Kindergarten, we learned that she had scoliosis. At that time it was just a very slight curve and something we needed to watch over the years. In late 2009 her curve was at 58 degrees, they typically want to do surgery if it gets over 60. A year and a half and a growth spurt later, her curve was over 80 and it could start to impact her internal organs. Surgery was scheduled. Little did we know that we wouldn't see Gabby walk on her own again after that. The recovery for a spinal fusion is long and difficult, especially for a child who doesn't understand what's going on or what's expected of them, there are a lot of restrictions. Because of her drop seizures, her orthopedic surgeon didn't want her up walking on her own for 6 months after the surgery for fear that she would fall and hurt her back. Before the surgery Gabby would sit on the floor and play, get up on her own and run around the house, she was able to go where she wanted, when she wanted. We aren't sure why she's hasn't been able to do that since. Some think it's because she was so restricted for 6 months, some tell us that that just happens sometimes to special needs kiddos after a big surgery. Whatever the reason, it's been very sad for us. We miss seeing her up and active and able to do as she pleases, now she is stuck in her wheelchair for the majority of the day. She goes to therapy 3 times a week and can walk with a lot of help. She's made some very slow progress over the last few years, so you never know, maybe one day she'll do it on her own again! We're gonna keep trying!

Gabby requires total care. We dress her, feed her (she has a Mic Key Button feeding tube), shower her, change her diapers, get her in and out of bed, in and out of the car, in and out of her wheelchair, brush her hair, brush her teeth, give her her meds…everything. She goes to our public school and is placed in a special needs classroom. We have been extremely lucky to have had the same associate work with her since she was in 2nd grade. She loves Gabby and takes such great care of her, I know when Gab is at school I have nothing to worry about and I am so thankful for that! They will both be moving on to the High School next year where they will participate in PAL PE! We are so excited for this! They pair up a "typical" student with a special needs student and do so many fun and awesome things, such as swimming, bowling, movie days, karaoke days and so much more. Gabby loves to be out and about so she will love it all!
 

This is just a small snapshot of Gabby's life, it's hard to decided what to include when she's had so much happen in her 14 years. She's had several surgeries and illnesses, been hospitalized numerous times and been diagnosed with a rare disease. She amazes me in so many ways. She has been through more than most people will go through in their entire lives, yet she still smiles. She has THE BEST belly laugh I have ever heard. We don't hear it that often, but when we do it brings me so much joy. She loves fireworks and silly sounds. She plays peek-a-boo with anyone who will play. She blows kisses and claps her hands if she's happy or excited. Everyone who knows her, loves her. She has brought so many amazing people into our lives! For that I am forever grateful for her. This isn't the life I thought I would be living, and it's definitely not always easy or happy, but I wouldn't give it up for one second.