Phelan-McDermid Syndrome

Three years ago today the trajectory of our lives changed forever. We had been waiting for weeks to hear back from the genetics team at Children’s Dallas Hospital, so I called them that morning looking for an update. When my phone rang with a return call a few hours later I was not at all [...]

“Complex” is a word I’m very familiar with when it comes to my daughter. “Complex medical needs” is typically one of the first descriptors when it comes to her condition. Her body, down to her genetic makeup is complex — each organ just a bit different from the “norm,” resulting in issues with her brain, [...]

I waited 27 minutes on a line at the registry of motor vehicle (RMV) Friday morning to be told they could not process our 6-year-old son’s approval for a disability placard without taking a picture of him. The attendant apologized for the miscommunication in the approval paperwork we received from the state. The RMV does [...]

“And now, you fight.” These were the first words spoken to us by our son’s diagnosing developmental psychologist when he received a diagnosis of autism in October of 2017. A diagnosis the same developmental clinic had told us he was not a candidate for 18 months earlier. A diagnosis that explained enough for now. A [...]

We passed one of you on the street today. My hunk of a husband was wrestling our black lab, and I was walking with our daughter. Well, I was pulling our daughter “E” who was clumsily following me in her bright green gait trainer. I was hoping you’d smile, or even say hello to our sweet E. [...]

The journey and challenge I started in March 2016 is now complete. I’ve been wearing my “Phelan Lucky” T-shirt for one whole year, to raise awareness of our daughter’s rare genetic condition, Phelan-McDermid syndrome (PMS). I’ve completed 365 days of Phelan Lucky. Emily, our youngest daughter (5), is one of just over 1,500 people diagnosed [...]

I am thankful for many things today. But I’m particularly thankful for every hour of every day I have had the opportunity to spend with Olie. When we became aware of Olie’s condition we did not know what to expect. I did, however, commit to accepting Olie for who he was, to not waste a [...]

When our daughter, E, was born 10 weeks early in July of 2014, the doctors told us to expect many developmental delays and to simply give her time to reach them. However, after each month passed with no progress, nary a roll or a sit, we knew something was amiss. Then in October 2015, well [...]

I have two beautiful daughters, 6-year-old Ashley and 4-year-old Emily. Emily has Phelan-McDermid syndrome, otherwise known as 22q13 deletion syndrome. It occurs from a deletion on chromosome 22q13 to the end of the chromosome. There are more than 1,300 registered cases of Phelan-McDermid syndrome worldwide, so Emily is 1 in 6,080,883. That makes her very special! [...]