Una was born my 2nd child. We did not undergo genetic testing for either pregnancy. It was a normal pregnancy, aside from the fact at a 20 week level 2 ultrasound a "bright spot" was detected. I was told this doubles the chance of Down's Syndrome because 5% of normal babies present with this finding and 10% of Downs will. To me, a 5% increase at the end of the day did not make up my mind to proceed with genetic testing. I was 34 years old ( to deliver at 35) and have already delivered one healthy child. There are no familial incidences to worry about. To tell you the truth, I was pretty scared and I don't know what I would have done if there were positive findings. So I basically turned my head from the possibility. When she was born, I just knew there was something. The doctors and nurses were not on the same page with me, they thought she was fine. At Una's one week appointment I explained my concerns to our pediatrician. I pointed out the bridge of her nose, I thought her eyes were different sizes and of course there was the crazy hair pattern (which, I might note, that the doctors in the hospitals agreed was quite different). She didn't really make eye contact. He said that these things in and of themselves are not to worry about, but when you start seeing a few minor things together, well, they could be a part of something, like something chromosomal. He was not convinced there was definitely something going on but saw my reason to be concerned. He gave a suggestion of waiting until next months appointment to "see if she grows into herself" because she was still new, or to just go ahead and have some testing now, make an appointment with a geneticist. I thought "why wait?"
The genetics/metabolics doctor we saw, and an associate of his, took measurements and jotted findings. "long philtrum", "flared nares", "bridge of nose". There was blood drawn. Una was 2 weeks of age.
One month later I returned to hear about Pallister-Killian Syndrome. They said the blood tests in this particular syndrome were not always conclusive (although it was positive for PKS, 4%) and so she had a skin biopsy taken then. There were 48 out of 50 cells from which PKS was detected.
We started early intervention at 3 months. My town does not have a very strong EI staff. She had OT weekly. For 2 cities the EI only had one PT, which we had to wait until she was 2 1/2 to see. SLP we saw 2 people briefly and they both left EI. We did see 2 wonderful vision specialists throughout EI. We are fortunate enough to live close to Perkins School for the Visually Impaired, so in addition to seeing TVIs from Perkins we joined and infant toddler group. I can't say enough positive remarks about that whole experience.
Today, Una is 4 1/4. She goes to school 5 hours per day in our city and receives her therapies. She can self feed finger foods. She can sit herself up, push into quadraped position and sit in a kneel. With support she can stand, even take a few steps with maximum assistance. I think she is not very far off from a crawl, we are working on this. Her progress is very slow, but she make small progressions. She makes much vocal play but no words. She is a happy girl, and touches everyone around her. She is lovely. She is content ( to a point where it makes motivating her difficult). She does not show much consistency which is frustrating for her parents and puzzling to her teachers.
She will sometimes break out into laughter and we have no idea why, and do not care why.
I have since had another child, who is healthy, extremely interactive and so social. He sometimes takes her sippy cup from her and she fights back for it, which is hugely satisfying for us to see. But he sometimes just helps her out if she drops hers or tries to feed her. I think the relationship is great for her. For all of them, really.