Lu's story

First, we would like to thank all our wonderful friends, family, nurses, the www.PKSKIDS.com website community, and doctors for their support, compassion and willingness to do just about anything to help us get through a tough diagnosis and now an unexpected trip to the hospital.  The cards, calls, visits, texts, dinners, and love have been amazing.  Little Lu has already brought out the best in us.  


Its been a few weeks since Lucia was diagnosed with PKS- Pallister Killians syndrome, a chromosomal disorder that has been diagnosed about 300 times.  The kids seem to have problems with about every part of their body with issues ranging from serious cognitive delays, low muscle tone, heart problems, stomach/intestinal issues, deafness, funky hair patterns, problems walking and talking, and physical abnormalities. With that said, I have yet to have read or spoken to a PKS family that doesn't have a deep love for their child.  They seem to radiate happiness and are always wearing a huge smile (although Lucia has quite fussy lately-but aren't we all when we are not allowed to eat).  Everytime Jules and I have been on edge struggling to understand what her diagnosis will mean for her life and ours, all fears seem to dissapear when you take one look at her.  She is the cutest little bundle of joy we've ever seen. 

Without either of us ever having lived through something like this, we were totally unprepared for the diagnosis.  Its hard to describe the feeling of being over joyed by the birth of your first child while being devastated that all of our lives have just taken a hard right turn off the road you planned on traveling.  We gratefully accept congratulations about Lucia being born while wondering if she will ever walk.   Regardless, we are staying focused on the here and now enjoying changing diapers, watching her sleep, and getting as much snuggle time as she will allow. 

Of course, just when feel like she may have lucked out of some of the more troubling complications, we had a big bump in the road on Thursday afternoon.  Noticing her struggling to catch her breath, and very uncharacteristically  upset, we rushed to our pediatrician and soon were on our way to the ER.  After xrays and ultrasounds, the doctors told us she has reflux, has been aspirating, and has malrotated intestines.  Also, the entry point to her tummy is too big allowing milk to be coughed into her lungs.  She seems to have low muscle tone in her throat as well causing her to swallow "down the wrong pipe".  As a result, Little Lucia will have surgery tomorrow, May 31st.  She will have her intestines and stomach operated on, a g-tube (feeding tube) put in and the they'll take a closer look at her throat to see if there are any further abnormalities. We know that God is watching over her.

We will update Little Lady Lucia's blog as much as we can and we hope you continue to send us your words of encouragement and love via the website.

Much Love,    Jason, Juliet and little Lucia