Local family hopes to raise awareness of Phelan-McDermid Syndrome

Awareness Day was Oct. 22

The fifth annual International Phelan-McDermid Syndrome Awareness Day was celebrated Wednesday, Oct. 22, to raise awareness of Phelan-McDermid Syndrome (PMS), a rare genetic condition affecting more than 3,500 people worldwide. It’s estimated that 1 percent of people with autism have PMS, but many are undiagnosed.

Families and advocates of those with Phelan-McDermid around the world are raising awareness the week of October 22 by “shining green” on homes and local landmarks. Participants are encouraged to share their stories on social media using the hashtag #PMSAD.

One local family is also taking the opportunity to share their story. Abby Wall, 6-year-old daughter of Carrie and Jeremy Wall of Worland and granddaughter of Rick and Pat Parmer of Lovell, was diagnosed with Phelan-McDermid Syndrome last year. Phelan-McDermid Syndrome is caused by a deletion or variation of the long arm of chromosome 22 in the 22q13 region, most often including the SHANK3 gene, or a disease-causing mutation of the SHANK3 gene, according to a press release from the Phelan-McDermid Syndrome Foundation. The diagnosis of Phelan-McDermid Syndrome is made definitively by genetic testing. This minor change in one chromosome can have a devastating health impact on those affected by the syndrome.

In an interview last week, Carrie Wall said that she and Jeremy noticed that “Abby’s development was falling behind her peers after she turned 1. She wasn’t walking on the standard timeline, she wasn’t developing speech (or precursors to speech). We had her evaluated at the Children’s Resource Center, where she started receiving speech services. She had just stood up and started walking shortly after we had her evaluated by a pediatrician. Through the course of her time at CRC, they began to notice signs that pointed to autism. At their suggestion we scheduled an appointment and had her evaluated by a specialist in Billings.”

At that point Abby received the autism diagnosis, and Carrie began to research. “I found some information that suggested that some children diagnosed with autism had genetic conditions that were, essentially, the root of their autism symptoms. Many of those genetic conditions had treatment options,” she said.

Per the PMS Foundation release, “There is no cure or treatment for PMS. Though improvements can be attained through pharmacologic treatment of associated medical conditions, aggressive speech, occupational and physical therapy and intense education programming, people with PMS are rarely ever able to live independently into adulthood. PMS symptoms vary, but they often cause a wide range of medical, intellectual and behavioral challenges, delayed or absent speech, epilepsy, low muscle tone and motor delays. Many individuals experience regressions and develop neuropsychiatric issues later in life.”

Carrie said she found a doctor who would facilitate the genetic testing through a lab in Germany, and they did the testing at home with a cheek swab kit. 

“The wait for answers felt like forever, taking around four months. When I first sat down with the results which showed a genetic condition I initially felt victorious and that I could help her. After beginning research it was difficult to learn, and subsequently come to terms with, the fact that while she did have a genetic condition, in her case a mutation, there wasn’t any treatment available and not much information about what to expect long term. 

“Since then both Jeremy and I have had meetings with genetic specialists and medical specialists, have associated ourselves with the Phelan-McDermid Foundation, researched and learn so much, as well as attended the Phelan-McDermid Conference.”

As for help on such a rare syndrome, the Walls have found support here in their own community and through the Phelan-McDermid Foundation.

Carrie said, “As Phelan-McDermid is still so rare, it has been difficult to find a community. After we first received her diagnosis and began to communicate with the Phelan-McDermid Foundation, she was the only individual in Wyoming with a known diagnosis. But the Foundation has been amazing, offering monthly caregiver support groups, tons of information and resources, keeping everyone updated on the new studies and trials available and putting together an amazing conference every two years.

“The local community, while not having any knowledge about Phelan-McDermid, has been amazing. Worland Preschool has welcomed Abby into their community with open arms, CRC was instrumental in establishing systems and introducing Abby to the school environment and establishing her initial (individual education plan). The Worland Aquatic Center’s swim lesson staff has been working with her for six months and has done research into how to teach Abby to get her the most success. The school district, in particular East Side Elementary, has been nothing short of fantastic. She goes to school every day with a squeal and a dance, meeting her para at the door and dragging her into the school. We count ourselves fortunate to have such loving and caring people surrounding Abby.”

She added, “We have also been very fortunate in partnering with Banner Health, as her family doctor has done research to learn about Abby’s syndrome and gotten us referred to the right specialists to rule out additional medical conditions that are commonly associated with Phelan-McDermid Syndrome.”

The diagnosis has brought challenges but also many positives.

Carrie said, “As Abby is non-verbal, that is one of our primary challenges. She is becoming increasingly frustrated with our inability to understand what she is wanting, so we have been working with an amazing group of speech therapists over the course of her life to help her develop communications any way we can. Right now we are working with an app that assists her communication through a tablet. We have struggled getting her with specialists and people with knowledge of Phelan-McDermid, but have a truly exceptional group of medical specialists and therapists on board right now. 

“And, as any unique needs parent will tell you, it is difficult to find the correct equipment and resources as your kiddos begin to age. One example was trying to sort out a bike trailer for her. She had gotten too long legged for our traditional trailer, and adaptive trailers were cost prohibitive. We did eventually find something that she enjoys and allows us all to get out and enjoy the fresh air. Abby loves getting the wind in her hair.”

Carrie added, “She enjoys going on bike rides with her parents and brother, Finn 4, traveling, swimming, painting, “Moana,” “Lilo & Stitch,” and the ABCs. She has a smile that can light up a room and a laugh that will make anyone pause — and uses it to get out of work.”

INTERNATIONAL WEEK

Per the Foundation press release, raising awareness will help improve support services, basic research, drug development and policymaking related to the syndrome. Increased funding for PMS research will improve health outcomes and improve the quality of life for individuals living with PMS.

For more information about Phelan-McDermid Syndrome and about the Phelan-McDermid Syndrome Foundation go to www.pmsf.org or contact the PMS Foundation at info@pmsf.org.