Our darling we girl was born January this year one day past her due date. My wife's pregnancy had been uneventful with all scans showing normal and other than some swelling late in the pregnancy there had been no cause for alarm. Ava was born 22nd January 2010 around 4 am by emergency C section at Middlemore Hospital in Auckland New Zealand. Erin my wife had been in labor for approx 40 hrs and her contractions had never gotten strong enough to give birth naturally so we decided that a cesarean section was the best option.
Ava was an unexpected 9lb 12oz at birth. She initially had a low apgar score (5 @ 1m) but this quickly came up (8 @ 3m). Ava looked pretty battered at birth which we attributed to the long labor (Erin had pushed to the point that I could see the top of Ava's head before they decided she would go no further) she was cute though with chubby cheeks and a button nose. Her hair was unusually long and curly and almost all missing around the sides and back of her head which later gave her a some what comical "Crusty the Clown" look. The mid wife surmised that the hair had "rubbed off" due to a strong engagement in the birth cannel.
We had an early fright with a "panting" breathing rate and she spent a few hours in NICU but it seemed to come right quite quickly and we were transferred a few days later to a local post birth care unit. There some concern was expressed over her left foot which was turned off to one side presumably due to cramped space in the womb. The attending pediatrician also made comment on her widely spaced eyes, high forehead and low ears but not so much that we took notice or were concerned.
Over the next few weeks Ava progressed well putting on weight and breast feeding like a champ. I think it was late Feb. to early March that we had a follow up Ped's appointment to check on her foot, I remember the day because the traffic was mad, and I ended up stuck in the city and was unable to join Erin for the consultation. Later that day having not heard from Erin but assuming all had gone well, I video called Erin from work to see how things went and could tell immediately that something was wrong. The pediatrician had told Erin that he thought Ava had a chromosome disorder, and we'd need to run tests. Our hearts sank, i think mostly because we already suspected something was wrong - Erin had commented that she didn't "sound" like the other babies in her antenatal coffee group. A few days later we had the blood taken and sent for testing and the waiting began. During that time we looked around the net for some ideas on what we may have been in for, ironically the first site Erin found was PKS kids and as much as it was a shock she commented that all the children looked happy.
I think we nearly went a bit mad waiting for those results, but finally one day at work the phone rang and Erin through happy tears announced that they had come back negative and Ava's chromosomes were normal. We were over joyed and felt that if we needed to have surgery to correct her foot then that was no problem. But few weeks later we both commented that we didn't think her sight was developing and the concern started growing again, our pediatrician through the public heath system got us an appointment with an ophthalmologist and a few weeks later we had an eye exam which revealed that everything was normal, the problem must be between the eye and the brain.
In the mean time we had contracted a private pediatrician just to give us an alternative opinion and they seemed to think that the problem was still Chromosome related. A different set of blood based chromosome testes were ordered and more bloods taken so back to waiting again.
A few days after that our public pediatrician e-mailed us and asked could we send some photos of Ava and he would forward them to a friend in the Auckland Genetics lab, we did and he called a few days later to ask us to come and see him that Friday. He said that his calendar was full but he'd see us specially after hours. At this point we new something was up and it was likely not going to be good news.
So last Friday 28th of May 2010 we were told by a pediatrician with tears in his eyes that our little girl had Pallister killian Syndrome. We new immediately from having seen the PKS kids site what he was talking about and as much as it was incredibly hard to hear we immediately thought of the happy faces we had seen. We are fortunate in that while Ava shares many of the feature's of a PKS child we have been so far spared from major organ complications.
The past three days have been hard with lots of tears but Ava is a great little girl with a smile that melts your heart and a gurgly giggle that I suspect underlies a mischievous personality. She is now just over 4 months old and I feel as though we are at day 1 all over again, except now we know what we are dealing with and can make a plan to move forward.