Tali

Age: 3
Duplication: 46, XX, der (22) t (4;22) (p14; p11.2)
Lives in: Wrightwood, CA, USA

Our Natalia (Tali) just celebrated her 3rd birthday! She was born in San Diego, CA, on February 25th, 2012, and her appearance didn’t lend any indication that she would have significant physical or developmental challenges in her future. She was a beautiful baby! As a precaution, based upon knowledge of my husband having a balanced translocation between chromosomes 4 and 22, we did have Tali tested shortly after birth to determine if she may also be a carrier of a chromosomal abnormality. The initial test results were interpreted by the doctor as Down Syndrome, but after several weeks we returned to the genetic specialist at Rady Children’s Hospital and were informed that our baby girl was actually born with an abnormal female karyotype consistent with a partial trisomy 4P. We asked what we should expect in terms of symptoms of the disease, but the doctors said this type of diagnosis is so rare that they could not tell us exactly what to expect or when… “Just come to us when you notice something unusual.” 

Over the next year and a half we noticed that Tali’s eyes were not aligned and wandered, she couldn’t crawl or talk, and she had developed the daily habit of hitting herself in her head and torso with her fists, or she would forcefully bang her head into the floor, a wall or any solid structure she could find. She never slept through the night and she would cry for extended periods of time without any identifiable cause. Though she would have moments during a day where she would smile and play, many of her waking hours would be punctuated with unhappiness, discomfort or anxiety. All we could do is hold her and show her as much love as possible. 

  

Near Christmas of 2013 she began to crawl! We were so excited for her as we knew that her new ability would hopefully relieve some of her anxiety and frustration. She became an excellent crawler over the next few months, she was so fast! During this time she also had surgery on her eye muscles to help bring them into alignment. We had high hopes that the surgery would have its intended effect, but unfortunately Tali’s eyes appear no better over time for the stress she had to endure. For several months she struggled through physical and occupational therapies to improve her motor functions and coordination, and at age 2 ½ our determined Princess took her first steps! She had overcome! It was a beautiful sight to see as she would stumble around with a smile on her face. Now she is quite the walker, though at times it can be precarious if she gets too excited. 

  
At age 3 our Tali is always curious and exploring. She still doesn’t speak (though she does laugh and make adorable cooing sounds when she is happy), she still doesn’t sleep through the night, she still has daily fits of self-injurious hitting behavior and now she has acid reflux issues that cause her to vomit several times a day. In spite of these difficulties, we experience so much love and joy in our lives because of Natalia! She is a beautiful gift to us from God and we count every day with her as a blessing. She has taught us patience and how to really love. We are thankful to have her and we look ever forward to each new adventure we can share together!