Oct 19

Oct 19 Local parent raises awareness about Phelan-McDermid Syndrome Awareness Day Oct 22

{Jack Hiller is eight and was adopted from China in September 2017. Photo: Jess D. Photography }

Friday, October 22 recognizes the Third Annual International Phelan-McDermid Syndrome Awareness Day so as to garner attention for PMS, a rare genetic condition affecting more than 2,500 people worldwide. It's estimated that one percent of people with autism have PMS, but many are undiagnosed.

For Christy, Dave and adopted son Jack Hiller, this time of year is a special moment of remembrance. According to the Phelan-McDermid Syndrome Foundation, “there is no cure or treatment specifically for PMS.” People with PMS are rarely ever able to live independently. PMS symptoms vary, but they often cause a wide range of medical, intellectual and behavioral challenges. The most common characteristics are significant intellectual disability, delayed or absent speech, epilepsy, low muscle tone and motor delays.

Mom Christy says she has grown to appreciate families raising children with disabilities. Jack Hiller is eight and was adopted from China in September 2017. He was diagnosed with Phelan- McDermid Syndrome in May 2020. “We sought genetic testing after he was home two years and was not catching up with speech and other milestones,” Mrs. Hiller explained. “We went to Fullerton Genetics at Mission Hospital in Asheville September 2019. The first round of testing came back normal. It was the Chromosomal Microarray, which tests for additions or deletions of chromosomes. The next test conducted was Whole Exome Sequencing. This test found a genetic variant on the SHANK3 gene, which led to the Phelan-McDermid Syndrome diagnosis.”

Hiller said Jack does not have functional speech, which makes communication difficult. “He can understand a lot of what we say but he in turn cannot express himself well. This often leads to behavior issues because he becomes frustrated,” Christy said. “Transitions throughout the day can be difficult for Jack, especially if it is from a preferred task [playing] to a non-preferred task [getting dressed, academic-focused activities, etc.]. He expresses himself through behaviors since he has limited communication.”

Phelan-McDermid Syndrome impacts Jack's sleep, which in turn impacts the whole family. Jack doesn't sleep through the night. He awakens early (sometimes as early as 4 a.m.). Lack of sleep is a vicious cycle of being tired, which may contribute to behavior issues. Add to that the limited communication and you will have a small picture of daily life with Jack.

Hiller said Jack can be easily overstimulated with noise, crowds, new environments. “As a family we have to really think through activities we would like to do and decide if we think it is something Jack can handle. It is more difficult since we have a typically developing son, too. The balancing act we face to do what is best for Jack and still provide our other child with positive experiences is a challenge.”

Raising and spreading awareness will lead to increased interest, compassion and care for rare diseases such as PMS. Greater awareness and an engaged and active patient population will mean more opportunities for research, treatment, even improved outcomes for those affected by the syndrome.

Phelan-McDermid Syndrome Foundation has requested that those sharing awareness of the day on social media should use the hashtag #PMSAD. Hiller added, “My big wishes for Jack are what all parents want for their children, but realistically, I know those things are not likely to happen. So, my goals for him based on his abilities are to gain daily living skills, utilize his AAC [augmentative and alternative communication] device to communicate, have decreased maladaptive behaviors and be happy.