Mckenna was born in February 2005 at 37 weeks. The pregnancy was complicated by polyhydramnious (too much amniotic fluid), and she was delivered via c/section. She did not look so great at birth and did not want to breathe. She had apgar scores of 2, 5 and finally a 9 at ten minutes. After 48 hours of desats (decreasing oxygenation) and apnea, she was transferred to The Children’s’ Hospital of the King’s Daughters NICU where she spent 5 weeks. Mckenna was found to have primary aspiration; meaning whatever she took by mouth went straight to her lungs so she was NG tube fed for most of the NICU stay. She also was diagnosed with reflux, sleep apnea and pigmentary retinopathy. Mckenna failed her hearing screen also. After normal blood chromosomes were done, the geneticist was stumped. Mckenna was discharged with an NG tube and apnea monitor and had just passed a swallow study for thickened feeds. She was able to take the needed volumes of thickened feeds and the NG tube was taken out after one week at home! Yeah!
Finally, at 7 months of age, we agreed to a skin biopsy while Mckenna was under anesthesia for tubes for her ears. That is how we got her diagnosis of PKS. We were so blessed to find an on line support group, since PKS is so rare. We needed to “talk” to others so we would understand more about our kids. It has been so helpful. Finding her diagnosis was a curse and a blessing, I remember getting the information from the geneticist that painted the bleakest picture. I kept is all together and as soon as we got in the car I sobbed for an eternity. I read that she will never walk or talk and became determined to push her to achieve amazing things!
Fast forward to 2016 and my 11 year old just finished 4th grade, in a typical classroom with pull out and push in services in the areas she needs extra help. She walks, runs, plays Challenger baseball and dances. She is stubborn and determined and I feel that is why she is doing so well. Her verbal skills are delayed but she is reading and communicates very well.
Sometimes I let my head get all clouded with thinking about the future, but I have to push that away and focus on today. I have no idea what the future holds for her, if she will be able to work, or live independently. I do know that she is amazing, and is the kindest, funniest little girl on the planet!