Faces of PKS
SARAH: A SKETCH
Sarah McDermitt is a happy 13-year old young lady. She enjoys dancing and listening to music. She loves to swing. She attends school at her neighborhood middle school in a Life Skills classroom. She participates in the Miracle League of Austin in the spring and fall of each year. She has many in her life who love her.
Life began rough for Sarah. In the nineteenth week of pregnancy a diaphragmatic-hernia was detected on a routine sonogram. Amniocentesis revealed no genetic or chromosomal anomalies. At 35 weeks Sarah came into the world due to complications from the hernia (polyhydramnios). She was very sick, requiring mechanical ventilation. She spent nearly her first year in hospital undergoing many intervention for complications from the d-hernia including: transfusions, ECMO, liquid 02, d-hernia repair, transport to another hospital because of pericardial effusion, a variety of medications, tracheostomy, g-tube surgery, Nissen surgery, and many x-rays, central lines, therapies, tests, et cetera.
Sarah came home on supplemental 02 (CPAP added later), g-tube feedings, a few medications, and a whole lot of determination. She later underwent a muscle-flap surgery to construct a diaphragm. This surgery led the way to rapid improvements in Sarah’s overall health and development. She was ultimately weaned off 02—discontinued at about age 2 1/2 years of age. Her trach site was repaired about a year after that.
Once at home Sarah started receiving services from Collin County ECI in Texas—physical therapy, speech therapy, occupational therapy, and services for the visually impaired. She wore orthotics and used inflatable splints (very helpful for weight-bearing), a light box, and various manipulative and speech devices.
She started school using home based services at age three, until she could attend school during non-cold/flu season. She received the same therapies at school. She has continued in the public school system until now.
Here are ages for some of Sarah’s milestones: smiled—5 months; rolled over—9-10 months; sat without support—10 months; crawled—2 years and 7 months; pulled to stand—2 years and 7 months; walked around furniture—3 years and 3 months; walked—6 years. Sarah continues with her tube feedings; she still uses diapers; she has no verbal communication skills; and she has mild scoliosis and hypotonia.
Sarah was diagnosed with Pallister-Killian Syndrome 2 months shy of her 7th birthday via a skin biopsy. Our current concerns include reproductive and adolescence issues, as well as planning for her future.
Sarah is the happiest person I know.
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