Audra's Story

Audra joined our family through the blessing of adoption. She spent the first 5 and a half years of her life living in an orphanage in China. She had been found at the gate of a hospital when she was only a few days old weighing 3 pounds. We knew nearly nothing else about her medical history from those first 5 and a half years other than she was diagnosed with malnutrition and developmental delays. But none of that mattered because we fell in love with her the very first moment we saw her picture in November 2012. In April 2013 we traveled from our home in Pennsylvania, USA to meet our daughter in Guangzhou, China and bring her home forever. It was truly the definition of love at first sight. We were smitten, but also very concerned. At 5 and a half years old she looked like an 18 month old and weighed only 21 pounds.

Once we arrived home with her 2 weeks later her medical journey began to unfold quickly. After being home for only two weeks she spent a month in the hospital quite sick. She had nearly every test possible done and some very scary diagnoses were discussed and thankfully ruled out. After that hospital stay she began seeing a lot of different specialists and the diagnoses started rolling in:
Hearing loss with hearing aids,
Kidney reflux with kidney abscess and cysts,
Intestinal Malrotation with surgical repair,
Immunodeficiency requiring IVIG infusions every 3 weeks,
Ruptured ear drum from chronic infections requiring tympanoplasty,
Pancreatic insufficiency with FTT and malnutrition requiring G-tube feeds

Every doctor always assumed she likely had a “unifying” diagnosis, but her first round genetic testing revealed nothing. Then in late 2016, after we switched health insurance providers, whole exome sequencing was finally approved. The results came in during one of her hospital admissions in March 2017. Audra was the first child to be diagnosed with ZTTK syndrome at CHOP. None of her doctors had heard of it before. They shared a couple of journal articles with me and that was it. At that time there really wasn’t any more information out there. Through the miracle of the internet I connected with another ZTTK family and eventually found my way to our current little ZTTK community.

Audra is a mostly non-verbal but very happy little girl with an infectious laugh. She can walk independently although she tires easily and uses a wheelchair at times. She needs help with all of her ADL’s. She attends a Life Skills school program with a 1:1 aide. She has participated in Special Olympics bowling, track/field and soccer. She receives speech therapy, OT, PT and hearing therapy.

Audra is adored by her three siblings Riley, Aidan and Maura. While it has been hard for them to see their sister sick, in the hospital and having surgeries, they have been incredibly strong, loving siblings always by her side. All three have a big heart for kids with special needs.

Audra is our tiny little warrior (whom we all still carry around at 13 years old!) and she completes our family perfectly.

Sean and Shannon Boyle
Riley, Aidan, Maura and Audra