January 2022 AMCer

Ava made her premature grand entrance via an emergency c-section, on May 1^st, 2020, weighing in at only 4 pounds. Her presentation prompted a gathering of multiple Neonatologists from the department. Born with her right leg contracted completely and extended above her head from the hip, her left leg flexed and bowed at the knee, 2 feet with vertical talus, both wrists fixed in extension, and extreme right facing torticollis, it came as a surprise that previous ultrasounds never indicated her condition. It would be over 2 weeks before we would finally get to hold her for the first time.

Her first few weeks of struggles in the NICU were met with a diagnosis of Severe Obstructive Sleep Apnea, a transfer to a 2nd Children’s Hospital a little over an hour away, and 2 surgeries to insert and remove hardware from her lower mandible (jaw) at only 5 weeks old. The purpose of the surgery was to lengthen her jaw and the goal was to avoid a trach. Ava’s surgery was successful. Ava healed for 2 more weeks and we began prepping for home life. Car seat tests completed, DME equipment ordered, and final splints were made. (Fun fact: Ava had her first pair of splints made at only 6 days old!) 

Home life was quite the adjustment from the NICU Ava had spent her first 60 days in. The amount of stretching to be done daily, at the time, felt impossible. Jaw, neck, shoulder, arm, hip, leg, feet and toe stretches… all to be completed multiple times daily! By July of 2020, Ava’s Mom had found the Arthrogryposis Mom’s Facebook group, and by August of 2020, Ava and her Mom were on a plane to West Palm Beach, Florida for an initial evaluation with Dr. David Feldman at the Paley Orthopedic and Spine Institute. 

Finding Dr. Feldman was the best thing that could have happened to us, and without hesitation our family spent the next 6 weeks in Florida receiving treatment from the Paley Institute. The entire month of October 2020 consisted of aggressive stretching and 6 rounds of serial castings to position Ava’s feet for surgery. She underwent her 3^rd surgery, a traditional pinning/tenotomy of both feet, with Dr. Matthew Dobbs. Surgery was successful and we headed home straight after. 

By January 2021, Ava had her 4^th surgery to remove the pins from her feet. A pair of custom after-surgery splints were created specifically for her left knee contracture and to go over her boots and bar that she will wear until age 2. December of 2021 was spent back at Paley Institute, creating a care plan, getting fitted for her first pair of HKAFO’s, and meeting with genetics. Ava’s parents learned she qualified for assistance for a Whole Exome Sequence test (WES/WEX), which will hopefully help us gain insight into which of the over 400 possible types of Arthrogryposis she may have.

Since birth, Ava has undergone a series of anesthetized MRI’s, fully awake EMG’s, swallow studies due to aspiration caused by hypotonia, countless follow-up appointments for genetics, neurology, orthopedics, and even plastic surgery (jaw surgeon). She participates in in-person occupational, physical and speech therapy. 

Ava still cannot sit independently and has very limited core strength. Due to her limitations, easy tasks such as playing in the bath or sitting on a floor to play with her brothers is simply not possible yet.

Helping AMC Families is thrilled, through the support of our amazing donors, to be able to assist Ava and her family with the purchase of two pieces of medical equipment (for seating and bath time) designed to improve their quality of life and provide Ava’s parents with the assistance they need to best help Ava. Helping AMC Families works directly with vendors to purchase the equipment needed to help AMC families care for their children.