Crue

Crue was my first born child. I had him at age 35. All testing came back normal, including the 20 week anatomy scan. Late in my third trimester I developed polyhydramnios (low fluid) and PIH (pregnancy induced hypertension), and was followed by perinatology due to my age. I had multiple ultrasounds and all came back normal, other than Crue maintaining breech presentation. At 37 weeks gestation, my blood pressure was high enough that my OB wanted to deliver Crue. Since he was breech, I had a cesarean section. There was so much fluid at delivery that my doctor said it was like I was carrying twins, and she had to hold him in my abdomen so he didn’t come flying out. He ended up going to NICU for transient tachypnea of the newborn. While in the NICU, he had several tests done, including an ECHO, multiple x-rays, and several labs, including a microarray. He had frontal bossing and strange hair pattern/baldness on sides of his head and a strip on the back of his head. He had some mild hypotonia and feeding issues at first, but was bottle feeding everything by day 3. He spent 24hrs on phototherapy and was discharged home on day of life 5. At 10 days of age, we got the phone call from the geneticist about the diagnosis of PKS. From there we had many follow up appointments with so many specialists. Crue can’t walk or talk, but eats everything by mouth and loves all food except anything spicy. He is very laid back and easy going and has been the biggest blessing I never knew I needed. We continue with all therapies including PT, OT, speech, vision, hearing, and adaptive PE at school. Other than being nonverbal and nonambulatory, he is very healthy. The only specialists we currently see are physiatry (he gets Botox injections in his calves/ankles for loosening Achilles tendons as well as getting AFOs), cardiology (for slight dilation of ascending aorta), and ortho (for foot supination and spinal cord monitoring).