The story of Teri
When we decided to have our second child we went thought all the standard test, ultrasounds, and doctor appointments. It was a normal pregnancy and delivery with no complications. We brought our beautiful daughter Kenzie home and noticed she was a rather fussy baby. In fact, she cried most all day. She was treated for reflux as they do for most colicky babies and it seemed to help but not for long. This was only the beginning of our journey with medical professionals. I will spare you the details on everything that happened but summarize it in the 200+ doctors’ visits she had in just two short years of life. Hospital stays, illness, many ear and throat surgeries, orthotic fittings, and therapies is just a small glimpse into the life of this amazing child.
The struggle to get answers is more common due to the expense of genetic testing. After meeting with two genetics doctors we had a bad taste in our mouths. Desperate for answers I researched and found a lab company willing to mail a kit to our home. Our Pediatrician was on the same page and said she would do anything we needed to assist in getting the answers. She signed the forms I had filled out and ordered labs for Kenzie’s blood to be drawn.  I left the office that day and went directly to FedEx. I handed Kenzie’s cold packed vials of blood to the woman working and she assured me they would make it to GeneDx. I sat in the parking lot for what seemed like a long time crying, finally letting it all go. This was it, I had done everything I could do and now we had to wait. Five weeks seemed like an eternity but finally the results came. 19q Duplication was the chromosome anomaly that came back. Doing what I do best I typed those words in google and to my surprise I couldn’t find much of anything. I am the queen of google and I was so confused as to why I couldn’t find anything. We made yet another genetics appointment with a new doctor. We sat in her office and were told there isn’t much known and Kenzie was the 6th documented child to have this chromosome anomaly. She would likely never walk, talk, and her cognitive ability would likely be limited. We were handed two little papers of old case studies and sent on our way. There was no need for a follow up appointment as genetics had done all they could do. I looked at my husband and once the tears passed it was understood that we would accept this challenge. Kenzie was going to write her own story and we were going to be there to get her every tool she needed to do just that. Now that she is 6 years old, talking, walking, and defying all odds I think of how blessed we were to be led down this path. Our lives have been challenged in so many ways but we have grown to be stronger. I am a better person, mother, and wife. Each person in our family has had struggles with this journey and we are far from perfect. Each day we will face new challenges and do our very best to conquer them.
I have worked very hard to document all medical history & milestones in detail to pass along. We have a small closed Facebook group started where we can share information and will provide hope to others. Having a small group to welcome you can make all the difference. The unknown can be scary and lonely. I want to make sure anyone who receives this diagnosis never has to feel alone. Â