If you would like to help an AMCer like this one, click here to donate to Helping AMC Families Incorporated
My age: 20 months old
My favorite people: My brothers and Elmo
My favorite things to play with: Leapfrog ABC Fridge Magnets and Magna-tiles
Number of siblings: Two
Number of surgeries to date: Four
Assistance provided: The purchase of two pieces of medical equipment, not covered by insurance. Each will help improve and enhance the quality of life for both Ava and her parents.
Improving quality of life
and ease of care
Ava made her premature grand entrance via an emergency c-section, on May 1st, 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 3rd 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 4th 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.
Flash Forward to 2023!
An update from Ava’s parents
The year of 2022 has been an important one for Ava! Between therapy 2-3 hours a day, 5 days a week, and lots of hard work, we owe much of her success to Helping AMC Families. This past year, Helping AMC Families provided a $5,000 dollar grant to help purchase necessary medical equipment for Ava and provided financial assistance for lodging for her to be seen by her Florida Orthopaedic Specialist. With their generous advice, equipment, and financial assistance, Ava accomplished some of her biggest “firsts” this year.
In January, Helping AMC Families purchased 2 integral pieces of medical equipment for Ava – a bath chair and a seating device. Both of which have been well-loved in our home (and out of it!). The Firefly bath chair gets its use both in the bath AND at our neighborhood splash pad, the beach, and playing outside with her brothers on the deck. The Sit-Me-Up chair is great for eating at the dinner table with our family, fitting inside a traditional high-chair for eating inside restaurants, at the playground in an infant swing, or simply having a seat to sit in while at a picnic.
Come July, Helping AMC Families made sure we had help getting to Ava’s very first AMC Conference being held this year in Orlando, Florida. It was such a wonderful experience that was absolutely imperative. We learned an incredible amount from the professionals and gained many lifelong friends while we were there. Making use of the trip to Florida, we made our way south to see Dr. Feldman and once we arrived, Helping AMC Families provided much needed financial assistance from our grant for lodging.
August was arguably Ava’s most important month of the year. She ditched the Nasogastric (NG) feeding tube and has been eating independently ever since. Thanks to the tube removal, her vocabulary also began blossoming and she said her first official words (while learning ASL)! Ava also underwent 5 rounds of serial casting to help straighten her knee. Unfortunately, casting did not completely help the flexion contraction, and in November Ava found her way back to Dr. Feldman in Florida for a left knee release surgery. Surgery was successful and we learned that Ava does indeed have some lower extremity (quad) muscles. This allowed Ava to begin undergoing Spinal Stimulation and she has taken so well to it! She initiated her very own first steps in her HKAFO’s using a gait trainer and learned how to sit independently for 30 minutes or more. She’s started mastering bilateral hand coordination, something that she has never been able to do before as she’s always needed one hand to prop her body up and one hand to play. Ava has made 2022 her year!
There are no words to describe the feeling of weightlessness as a parent that comes with seeing your child have the ability to interact with their surroundings for the first time and to have access to life-saving medical care. For all of these reasons, as so many more, The Villegas Family will always be eternally grateful for Helping AMC Families. We will continue raising awareness of this wonderful nonprofit, reiterating how they were there for our family when we needed them most!
If you would like to help an AMCer like Ava,
click here to donate to Helping AMC Families Incorporated
Nana : Would you rather be rich or kind?– AMC Princess Ana & Nana
Ana : Kind
Nana : Why?
Ana : Because kind people do beautiful things.