Amiyah is a happy and fun loving 2-year-old girl who is always busy exploring her world and playing with her parents and older siblings. She was born with a rare genetic disorder (estimated less than 1 million): KAT6B chromosomal mutation that presents as GenitoPateller Syndrome (GPS) with multiple corresponding anomalies and medical complications.
Amiyah has been receiving occupational therapy services through the WA Elks Therapy Program, along with early intervention services since birth, after returning home from the NICU at Mary Bridge Hospital. She is fed through a GJ tube and uses O2 through a nasal canula to address her pulmonary hypertension and difficulty with maintaining her O2 sats above 90.
In early infancy, Amiyah often postured in total body extension of her trunk and neck. She also presented with slight torticollis of her head and neck, with a preference for head turning to her left. Amiyah has full movement of her head, neck, and arms. She tends to keep her hands fisted but is able to open her hands to play. Her legs lack full knee extension, and she is not able to stand. She wears orthotics for her feet and have been trialing splints to address her knee flexion contractures.
Overall, Amiyah’s development has progressed immensely! She has made amazing progress in all areas of her development. While playing on the floor, she is able to roll over for mobility and is able to ring sit on extended arms for a few minutes. She enjoys spending time on the floor on her belly or back, and she loves being able to move her body independently while playing! She absolutely loves movement and is very active with her family while hiking when positioned in a backpack, going on nature hikes in her adaptive jogging stroller, playing with her siblings while in her suspended swing, and playing with toys while seated in one of her adaptive chairs.
Recently, Amiyah has demonstrated tremendous cognitive growth! Her interests and understanding her world around her have been a beautiful journey to watch unfold. She is delighted to be able to play with her toys with more independence and purpose, not only learning how to play with them but, she finds joy that they are her toys! She’s really fascinated with her hands, fingers, knees, and toes! She has a much greater awareness of the people around her and has a strong interest and connection to them. She continues to have a great love for movement and independence in her own physical body to move.
We had the benefit of not only having ONE Elks Therapists to support us. but TWO! Diane was a significant help from the beginning, and following her retirement, we were able to feel supported by Sheila as well. I know our lives would look vastly different without the knowledge and support that your program provides, in addition to the support of our vast team of early intervention and medical professionals. I truly cannot express our gratitude enough to the ELKS membership for their kindness, generosity, and passion for helping families like ours. We feel so very grateful and blessed.
THANK YOU, WASHINGTON ELKS and FRIENDS!