The Phelan-McDermid Syndrome diagnosis came one day after Avenly’s first birthday.
It is a rare disease with few cases diagnosed worldwide.
Avenly’s mother, Lacy, discovered her daughter’s diagnosis after 10 months of looking including two months of specifically exploring genetics. Her difficulties finding a diagnosis are not unusual. According to studies shared by the Phelan-McDermid Foundation, the syndrome is highly underdiagnosed as many healthcare professionals may be unfamiliar with the syndrome. Also, the deletion on chromosome 22 can be undetected by a routine chromosome analysis (https://www.pmsf.org/st/, accessed on 22 May 2024). For Lacy, learning about her daughter’s diagnosis after so many months of trying to get answers was a relief. She felt empowered to explore and research everything she could learn about the syndrome. Lacy was able to better understand what the parameters of her daughter’s life would look like.
Finding support at Children’s Therapy TEAM
Because the disease is so rare, there are not the same types of local support groups as there are with more common developmental disabilities. Lacy was eventually able to connect with one other local family who have a child with Phelan-McDermid syndrome. The connection sparked so much understanding and a joyful discovery of something else the two families have in common. They both receive care at Children’s Therapy TEAM!
Avenly’s therapists have included a multidisciplinary team including occupational therapist Allison Boyd, occupational therapy assistant, Beka Melcher, speech-language pathologist Mandy Walters, and physical therapists Lori Hannon and Crystal Sennett. Lacy credits the team with being life-changing for Avenly. She has witnessed her daughter grow through all of the therapies she has received at Children’s Therapy TEAM.
Occupational therapy team member Beka Melcher has worked with Avenly for the last 6 years. She shares that she and Lacy have cried together on multiple occasions when Avenly has met a particularly hard goal. She remembers the day Avenly was able to sit up from supine by herself after months of working on the skill.
Beka has been supportive of Lacy’s desire to carry over interventions from the aquatic therapy pool to the family’s home pool. To support this, she made a special home visit to teach Lacy exercises she could do with Avenly in the home pool.
Physical therapist Crystal Sennett shares, “Avenly may be nonverbal, but she can make an instant connection with anyone she meets! Her belly laughs are contagious! I can’t think of anyone on our therapy team who hasn’t felt a connection with Avenly.”
Helping Other Families
Lacy is passionate about supporting other families impacted by Phelan-McDermid syndrome. Her daughter has an incredibly busy therapy and medical schedule, and Lacy has three other children. However, she always finds a way to squeeze in helping others. Whether counseling a fellow family across the world over the phone, participating in videos to educate the FDA and Congress on funding and research, sharing knowledge about service animals, or just getting another family with special needs supplies or dinner, she is always giving.
Spirit of Determination
“I think Lacy and Avenly share that same spirit of determination.” shares Crystal. She explains, “Avenly has a spunk and a sass to her that speaks louder than words! She is very determined when she sets her mind to something. Avenly has a tremendous work ethic.”
Crystal often jokes that Lacy should be awarded an honorary medical degree because of all the research, collaboration, communication, and legwork she has done. She seeks out resources and second opinions for various medical issues that Avenly has experienced as she has grown. This has made a tremendous impact on Avenly’s success and progress. Lacy is a tireless advocate for her daughter.