The day we found out I was pregnant, we were thrilled. We were overjoyed with hope and promise for the future and were beyond excited to become parents. I had an uneventful, healthy, and smooth pregnancy. Taylor must have thought so too, because she was very comfortable in mama's belly. Before she was even born, she was teaching us lessons in patience and finally graced us with her presence at 42 weeks.
She was born in September of 2015 and she was beautiful....with baby blue eyes and a head full of dark hair. Taylor was a relatively calm and easy-going baby right from the start. She didn't fuss much and seemed to enjoy sleeping.....which we thought was particularly wonderful at the time. If it weren't for feedings, she would have easily slept through the night within the first few weeks. However, we sometimes had difficulty waking her for feedings and keeping her awake during feedings. I would have to take her clothes off and put a cool cloth on her feet and face to keep her awake and it would take an unusually long time to finish nursing or finish a bottle. The first few months were a struggle to make sure she was getting enough nutrition and gaining weight appropriately, and this consumed much of our effort throughout each day.
Around three months, feedings became a bit easier but I became increasingly more aware that Taylor was not meeting her developmental milestones. She had difficulty holding her head up and was still more lethargic and sleepy than other children her age. I brought these concerns up with her pediatrician who did a thorough exam. I remember leaving that appointment barely able to think straight. Words like 'neurology consult', 'geneticist', 'early intervention,' and 'hypotonia' were swirling around in my head. I carried a long list of referrals for doctors and therapists and felt completely overwhelmed. Needless to say, I cried....hard. I hated the thought of something being "wrong" with my baby. The fear and uncertainty was overwhelming and I found myself consulting "Dr. Google" a lot which did nothing to ease my growing fears.
In those first few months, I maintained a lot of hope that Taylor would outgrow her delays, but overtime, this shifted to the hope that she might one day "blend in" with her peers. Many tests, exams, and scans were done and none of Taylor's doctors were able to identify the root cause of her delays. We were told she had hypotonia, also known as floppy baby syndrome, in which children present with low muscle tone. The amount of tension and resistance in Taylor's muscles is lower than in other typically developing kids, and as a result, it takes significantly more effort for her to do everything.....literally everything.....holding her head up, smiling, drinking from a cup, speaking, rolling over walking, manipulating toys, etc. We have been actively involved in physical therapy, occupational therapy, and speech therapy since she was six months old to encourage and help her accomplish all of these milestones. Although I sometimes grow tired of the therapy and the work, Taylor is persistent. She works hard in her therapies and it is obvious that she has a drive and a desire to do more than what she is physically capable of doing in a particular moment. She is one 'tough-cookie'. And she does it all with a smile on her face.
Toward the end of 2017, we went through a series of particularly challenging genetic tests that were looking for degenerative diseases and disorders.....this time-period was extremely emotional and difficult for our family because the specific diseases for which we were testing would have resulted in Taylor's death during childhood.....luckily, the results of these tests came back negative; however, we received a call from our Geneticist stating that the lab that ran Taylor's tests decided to run Whole Exome Sequencing (WES) on Taylor's blood sample purely for research purposes.....which is, quite frankly, amazing, because this test is terribly expensive and is not usually covered by insurance. The lab results revealed a single deletion on the PURA gene and Taylor has been diagnosed with something called PURA Syndrome. This is an extremely rare genetic mutation that was only just identified and named in 2014. It is characterized by intellectual disability, with severe language and motor delays, and a host of other signs and symptoms. There are less than 200 identified cases worldwide.
While this was obviously difficult news, we knew a diagnosis like this was a possibility and are now wrestling with the reality of what this could mean for Taylor and our family. Because so few people have been diagnosed with PURA Syndrome, there is still much to be discovered about the condition. Due to the rare nature of this disorder, we have been told by many providers that we will soon become the medical experts for our own child. Some children with this diagnosis remain non-verbal and some never achieve mobility, although we are hopeful Taylor will do both. We truly believe she will walk one day as she is currently showing a lot of determination and progress in this area. We do not see her any differently as a result of this diagnosis and nothing will change in how we love and care for her. Taylor is pure joy and light and love. We are glass-half-full people and choose to see the gifts that God has given to her.
I have come to realize that there is absolutely nothing "wrong" with my daughter. Her life will be unique and different and special and she is a beautiful creation. I believe her life will have great purpose and meaning and I believe she has already deeply touched her family and her many friends. In two years, I have learned more about love and character, acceptance, finding joy in uncertainty, and about what it means to be tough in the face of adversity than I have in my entire life.....and Taylor has taught me these lessons without having uttered a single word. Evidence of her effect on others has been clear to us since we received this diagnosis, as we have been overwhelmed by the amount of support we have received from our loving family, friends, and our faith community.
We have created this blog to help bring awareness to PURA Syndrome and other rare diseases and disorders, as well as others with disabilities. We also hope that others will be as inspired by her journey as we have been.