Faces of PKS
My pregnancy with Lillie was fairly uneventful, outside of some happenings at my 20 week ultrasound. At the ultrasound, they noted she had an echogenic focus and told us that was sometimes an indicator of down's. At that point, it was too late for an amnio, so we had a 2nd level ultrasound where they told us it was not down's and everything looked fine. Lillie was born at 39 weeks, on June 21, 2011, via C-Section, as she was in breech position. She was 6 lbs, 13 oz and 18 3/4 in. and a beautiful healthy baby girl. There were no immediate complications, and we left the hospital a few days later with notes that she'd failed her newborn hearing screening, but that was no big deal because more than 50% of babies fail them, and we should just have her hearing retested in a few weeks, after giving her body a little more time to mature. She failed her follow-up ABR screening at 3 weeks old. We had her retested again and she failed another ABR at 3 months. At this point, they confirmed that she had moderate to severe hearing loss, and we would need to begin the process for hearing aids. We were very upset and emotional. Where did this come from?! The only other issue at birth that was present, that at the time we didn't realize, was her failure to be able to latch. At her 2 week appointment, they had me switch to pumping and bottle feeding her to ensure she was getting enough. Now I look back and realize her hypotonia was to blame.Little by little, I began noticing once Lillie began daycare at 3 months when I went back to work, that Lillie wasn't quite as far along as some other kiddos her age. But I was assured that babies develop at their own rate.
Since Lillie is our first baby, we had no idea exactly how far behind she was becoming. As they began doing developmental evaluations to place her in early intervention services, she was testing quite a bit behind for both her fine/gross motor skills and cognitive. Her pediatrician told us that "as cute as she is, she has a look, and when you partner the delays and hearing loss, I recommend you see a genetic counselor." So we did. They did evaluations, and at 5 months old, Lillie was testing at 1 month for Fine motor, 3 month for gross motor, and 2 months for cognitive development. We were lucky to get her diagnosis from the blood draws they'd done a month later, and right around her 7 month b'day we got the PKS diagnosis. We are lucky that so far, Lillie does not have the major health issues that are sometimes present. Lillie does have moderate to severe hearing loss, but we are looking forward to her hearing aids finally arriving later this month. She babbles vowel sounds quite a bit right now, and we can't wait to see what she has to say once she can actually hear the world around her! Her hypotonia is most prevalent in her upper body, especially her arms and neck. Lillie is unable to use her arms to push up during tummy time, but will try to use her back muscles to at least raise her head up from tummy time. She also does not use her arms very often in a purposeful manner, and does the all-to-familiar clutching of her hands together more often than not. She is working on sitting on her own right now, and has some great days where she can hold herself in sitting for 10-15 seconds before teetering over.
We are lucky to have great OT and PT to work with her weekly now. Her vision is impaired in some way, but we are still searching for a specific diagnosis. Right now we know that she is inconsistent at best with her tracking, and does better with B/W objects and lights than with anything colorful. She is a GREAT eater, and has been 100th percentile for weight ever since 2 mos. old. We were very surprised to find out recently that she has been a silent aspirator, and she now is on a honey thick diet, but seems to do well with that. She also seems to get chronic respiratory infections, and is on daily asthma meds, and will be undergoing a sleep study later this month to test for apnea....We couldn't be happier to have our precious little angel. She is so happy and healthy, and will smile and do a silent giggle at things that randomly amuse her. She lights up every single day, and I can't wait to see all that she will accomplish. She teaches me more everyday than I sometimes feel I am trying to teach her. She is certainly making everyone around her's lives more rich and we are so blessed that God gave her to us. We wouldn't change a thing!
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