Faces of PKS
While pregnant with Kaelyn, my husband and I were told that she had hydronephrosis. I was heart broken at this news because my oldest daughter suffered from hydronephrosis for the first two years of her life. I remember thinking that it was the worst thing that my poor baby could possibly have, and cried for days thinking of her having to go through all the tests and painful kidney infections that my oldest had to endure. When Kaelyn was born, I looked at her and thought that she was the most adorable, chunky baby I had ever seen. The doctor who delivered her actually made a comment about how strong she was, and her being the only baby that he had ever delivered that fought him when he tried to aspirate the gunk from her nose. I was a little concerned when they took her back for her bath, and kept her for about five hours. When I asked the nurses why they had not brought her back to my room, I was told that her glucose was a little low, so they just needed to feed her, and would bring her to me as soon as her levels went up, which they did.
It wasn't until the morning after Kaelyn was born that I was informed that something could possibly be wrong with her. I remember being alone in the room with Kae when the pediatrician at the hospital came in. She let me know that Kaelyn had failed her newborn hearing test, and that she suspected that Kae had Down Syndrome because of her dimorphic features. They drew some blood for a chromosome analysis and let me know that it would take about two weeks for us to get the results. After a long and depressing two weeks, we received the greatest news ever... Kaelyn's chromosome analysis came back normal, and she was fine! To make things better, we had seen a Urologist, and her hydronephrosis was gone! And an ENT said that Kaelyn's hearing was fine also, and that there was no need for her to go back! My prayers were answered, and all was well. Her pediatrician had noticed that she had a bifid uvula, but he reassured me that she was fine... and that it wasn't that odd of an occurrence.
When Kaelyn was about four months old, I started noticing that she wasn't meeting her milestones. She wasn't responding to noises either, and her eyes would move from side to side, and twitch a lot. When I brought this up to her doctor he reassured me that all children develop differently, but that Kaelyn was fine. When I took her for her six month checkup I brought it up again, and also mentioned that I was concerned about her bulging forehead. Her pediatrician said that it was normal, but referred me to a neurologist to ease my worries. The neurologist did a CT scan, and let us know that everything seemed normal. Kaelyn just had a little extra fluid in her forehead, but he was sure that it would go away as she grew older. He did refer us to another ENT however because he suspected hearing loss. Again, my husband and I breathed a sigh of relief. My husband and I were still worried that Kaelyn was not meeting her milestones, and at her nine month physical, insisted to her pediatrician that something was not right. He finally agreed, and said that the next step would be to see a geneticist. I remember feeling so happy that we would finally be getting answers for my baby. When we saw the geneticist, he pointed out that Kae's sparse hair was odd (we would always joke that she had a weird mullet) . He also mentioned a few other "abnormal" features that Kaelyn had, and assured my husband and I that we would get the answers we were looking for. As soon as we got home from our appointment with the geneticist, I got on my laptop and started looking up all of Kaelyns characteristics and medical issues. PKS was actually the first thing that came up in my search engine. I read a little about PKS, but kind of dismissed it as a possible diagnosis because she didn't have a lot of the major medical issues associated with it. I made a note of it in my phone so that I could to discuss it with her geneticist at our follow up, and forgot about it. They drew blood for a microarray at the same time that Kaelyn had surgery to fix her exotropia, and about five weeks after, we got a call from her geneticist saying that everything came back normal! I was so excited that I completely forgot to question him about PKS.
Once again, our prayers were answered, and I could finally start enjoying my daughter and stop "trying to find something wrong with her" as I was told by my family. A few months passed... we moved back home to be closer to family, I gave birth to our third child, and everything was good. Kaelyn had been diagnosed as being developmentally delayed, hearing impaired, and legally blind. She was doing to PT, OT, Speech Therapy, and Vision Therapy weekly (some twice weekly). Even though she was exceling with her therapies, and getting much stronger, I was still having a hard time accepting that Kaelyn did not have an underlined diagnosis that explained all of her medical issues. I would cry myself to sleep almost nightly, thinking that there was something more to her condition than we knew. Laying in bed one sleepless night I started going through my phone, and came across the note I had put in my phone a few months prior, about PKS (which I had completely dismissed because her blood work came back normal) . My curiosity got the best of me, and I went into the PKS Kids website. The first thing I did was look at the pictures of all the beautiful children on the website. It amazed me, because a lot of the children looked so much like my Kaelyn. I started reading, and when I read that PKS was usually not detected in blood work it all clicked! It was like everything finally made sense!
I immediately emailed Dr. Ian Krantz from CHOPS, and Gretchen from PKS Kids with all of Kaelyn's health issues and my new suspicions that she may have PKS. To my surprise, they both returned my emails within a few hours agreeing that PKS could possibly be the cause of all of Kaelyn's medical issues. After going to Kaelyn's doctor with my suspicions, the process of trying to get testing done for a diagnosis began. This proved to be more difficult than anticipated. Kaelyn's original geneticist did not want to order a skin biopsy or buccal smear to test for PKS. I was told that he was not familiar with PKS (even though he has actually diagnosed other cases here in TX). I even felt like I was being rude even asking for the tests to be done; when I was asked why it was that I "was not satisfied with the way that he had evaluated and treated my daughter". (I later learned from reading the records that he forwarded to her second geneticist, that he had initially suspected PKS, but dismissed his suspicions because Kaelyn did not display many characteristics). With the help of Gretchen from PKS Kids, I was able to locate an amazing geneticist who has diagnosed other cases of PKS here in Texas. One week and one day after having a skin biopsy done, we received the phone call that we had been waiting twenty months for. Kaelyn was diagnosed with Pallister-Killian Syndrome. Even though we pretty much knew that Kaelyn had PKS, when the diagnosis was confirmed, it was like all of the air left my body. Her father and I were devastated. I remember that while I was crying, I stopped and looked at Kaelyn, who was sitting on the floor in the living room. She turned to me, and as if on cue, she gave me most amazing smile. It was like she was telling me that everything was going to be fine.
My family begins and ends with Kaelyn. Everyone gravitates towards her, and her grumpy, yet lovable personality. I know that she will never have a "normal" life, but she will have a happy one full of love, hugs, and kisses. She can not speak, but she definitely lets you know what she wants and if she is not happy. She makes the funniest facial expressions, and has the most amazing smile, that can light up any room. She is the best baby ever, and never cries unless she is really in pain. She likes to play on her own, but will at times initiate play with her big sister... but wants nothing to do with her baby brother who absolutely adores her lol. She is definitely the boss of the house, and makes sure that everyone knows it. Kaelyn is only 1 year and 8 months old, but she is the strongest person that I know. She has taught my family what true beauty and selflessness is. She has opened our eyes to how precious life is, and how easily we take the little things in life for granted. I am a better mother to all three of my children because of Kaelyn. I know that there will be many trying times ahead for Kaelyn and my family, but as long as my princess has a smile on her face, nothing else matters... she is her own perfect
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