My name is Anya Phillip and I have a 3 ½ year old daughter with Pallister-Killian Syndrome (Trisomy 12p). I would like to share our story with you. I am not exactly sure who will be reading this or how much they will know about the Syndrome, so I would like to start at the very beginning.
Amber Kaye Phillip
Born: February 25, 1999
Weight: 8 lb. 13 oz.
Length: 21 ½ inches
Hair Color: Black
Eye Color: Brown
Diagnosed: May 1999
I was only 16 when I found out I was pregnant with Amber. My OB doctor told me that he would like to do ultrasounds every 2 months on account of my age. Through out the entire 9 ½ months nothing out of the ordinary was discovered with Amber. There was one time that a nurse doing my ultrasound had said that I had an excessive amount of amniotic fluid, but that it was nothing to worry about. Infact, she never even documented it for my doctor. The rest of my pregnancy continued on just as the doctor had expected it to. My due date was February 15th, but Amber was not born until February 25th. I had a hard and painful delivery. Amber got stuck in the birth canal for over 2 hours. The doctor tried suction and forceps to get her out, but neither of those worked. After a lot of screaming and pushing Amber was born.
At birth, Amber was completely fine. She immediately cried, she was breathing well, and I was under the impression that she was a perfectly healthy baby. The nurse took Amber to the nursery to clean her up and get her ready to bring back to me. Only they never brought her back. I was moved to a recovery room and it was then that the doctor informed me that Amber had stopped breathing and was now on oxygen. She also was unable to eat because her pallet was so high that she was unable to suck. My doctor assured me that he was doing everything he could to get her out of ICU and back with me. I was in complete shock, not only was a very young, but I was very alone in this. Amber’s father had left us before she was even born.
Over the course of the next three weeks the doctors did every test possible. They checked, poked, and prodded every inch of Ambers pour little body. For the first week they said it was DOWNS. The second week that was ruled out since Amber had no heart problems at all. Into the third week a specialist from Primary Childrens Hospital came down and unofficial told me that she thought it was PKS, but that Amber would need a skin biopsy to know for sure. That could not be done until she was off all her machines and she could travel safely to Salt Lake.
About 1-2 months later Amber was diagnosed with Pallister-Killian Syndrome at Primary Childrens Hospital in Salt Lake City, Utah. The specialist gave me reading material and advice, but said that since this Syndrome is so new that was all the help they had for me. The information and material they gave me was of a few documented cases and they were both worst-case scenario.
I went home from the Hospital more confused then ever.Amber came home from the hospital on Oxygen, a pulse reader, and a sleep apnea machine. She was finally bottle-feeding, but not very well. She stayed on her machines for about a month, After that the doctor decided that this was all part of the syndrome and would not be going away, therefore, there was no reason the keep her on these machines.
Amber has very low muscle tone. She is able to sit with minimal support. She started signing at 4 months hold. She has an 80% hearing loss in both ears and wares hearing aids all the time. Amber is able to eat just about anything, but I have to spoon feed it do her and it has to be cut up very small. She went to Early Intervention everyday for 2 hours a day until she turned 3. She is now in a public pre-school that has been adapted for disabled children. She receives OT therapy every day, Speech therapy once a week, Audio therapy once a week, and a physical exam once a month. Amber gets ear infections almost non-stop. She has had one set of ear-tubes and is going to have to have them redone this winter. Amber’s other major problem is upper-respiratory infections. Things like RSV, Phenomena, and Bronchitis.
Amber is a very special child. She is an absolute gift from God. I believe that when she looks to heaven and smiles she is talking to my Grandmother, who raised me and passed away when I was 7 months pregnant, and Amber’s sister who passed away from a rare heart disorder just last October.
I hope the things I have written will help somebody out there that may be looking for answers or advise.
If there is anything that I have not included feel free to e-mail me at piggytails@sisna.comI love to talk with parents who understand what a challenge, but a joy, having a special child is!