Bryn

Bryn Ryan -- our bright blue eyed, blond haired baby girl.

She radiates JOY with her big cheesy smile.

She must be anywhere her big sister Navy (age 3) is.

She will dance anytime she hears a song.

She loves cuddles and hugs from her family.

She loves to play and learn new things.

She enjoys being outside - going for walks, swimming and playing with dogs.

She is learning to crawl and soon walk.

Her favorite show is Dora the Explorer.

18 months old and she is still a mama's girl through and through!

From this list about Bryn, you can see that she is a life-loving toddler! What you may not have guessed, is that Bryn was also born to our family with special needs!

On February 9, 2018 in the late evening and two weeks early - our second daughter, Bryn Ryan Cotant was born and then rushed to the NICU. We were only able to see her for 22 seconds, as she was born in stress with the softest cry and immediately passed over to be evaluated. After what felt like days, even though it was only a few hours, we were finally able to go see her. As my husband, Kris, and I took turns holding her, praying over her and loving on her, we, of course, could sense that things were not totally okay. Among other things, we had to be very careful while holding her because her hips were popping out of place causing her pain and required three diapers to hold in place. She was more flimsy than the average newborn, she required oxygen and an NG feeding tube and we could see the extra skin around her neck we saw previously in ultrasounds. We assumed these were the common things associated with Down syndrome or Turner syndrome, from what we were told to expect by our specialist visits throughout my entire pregnancy. At 15 weeks pregnant with Bryn, we knew that she was going to be unique in more ways than we could expect so we only told our immediate family and close friends that anything was suspected. It was easier for us to wait until she was born and by then hopefully have more answers.

In the days and weeks following her birth, we remained in the hospital for three weeks with Bryn’s feeding difficulties due to her low muscle tone and apnea spells. Handfuls of specialist came to see Bryn throughout those weeks and as each visited us, we were given results, inconclusive results, and suggestions on care. At this point, like many families who are on similar paths, there weren't many answers or a diagnosis to help us navigate this new unknown. We began more extensive genetic testing because of the handful of conditions she was presenting in hopes to find more answers. Based on assumptions, ultimately we were unsure how much precious time we would have with her on earth. Once we were home, we began adjusting to our new life as a family of four. We definitely experienced a wide range of new emotions and new struggles. It was such a different experience becoming parents for the second time. We were given a new perspective on everything and began to see things we did not always see before. My husband and I both felt early on that Bryn was meant to join our family and those feelings are confirmed each and every day we have with her!

Currently, at 18 months old, Bryn has seven or so doctors and specialists as well as a few amazing therapists we see regularly. It's been a huge help with her care and development and for us, as we, too, are in this season of learning. With her physical limitations - not being able to crawl or walk - and her not always visible developmental disabilities, we have learned to accept that she will do things on her own time and still be successful in whatever she chooses to do! Although she has endured many painful months of sickness, hip braces, surgery, tests, scans, x-rays, ongoing therapies and everything that comes with being a baby sister, she has smiled through the majority of it. I think we all tend to forget that baby steps still move forward and we have been reminded of that.

This summer we were lucky to have more genetic tests done and we received an official diagnosis explaining Bryn's conditions. A condition known as Au-Kline Syndrome which affects her HNRNPK gene. It is very rare, as it was only discovered in 2015, and only around 30 cases have been published. This condition has many characteristics, but for Bryn, is shown through her developmental delay, microcephaly, hypotonia (low muscle tone), a handful of physical features specific to her, congenital heart malformations (her bicuspid aortic valve), hypoplasia of the corpus callosum (main pathway between right and left brain causing delays in all areas), hydronephrosis (kidney swelling and dilated urerter corrected in surgery), and skeletal anomalies (bilateral hip dysplasia) to name a few. Although a diagnosis has brought some peace of mind and an online community of families walking this similar path, it has also reiterated to us that no diagnosis can define us or tell us how things will work out. Over the last year and a half we lived our lives with no diagnosis and many unanswered questions from everyone, including curious grocery shoppers. And yet we have been led to live a more present, grateful and faithful life. We are all different and unique and born with a divine purpose. We all have our challenges to face and we all learn at our own pace. We know a diagnosis will not define our success.

As a mother, I wish everyone could see how bright and capable Bryn is, despite her challenges, instead of focusing on what she can't do. She is still a beautiful little girl who wants to feel loved, seen and included. To our family, Bryn is our baby girl, little sister, cousin, niece, grand-daughter and even great-grand-daughter. She is a child of God and perfect to us. She is exactly who she was made to be. Although her differences bring a uniqueness to our family, we do our best to live our lives as normal as possible. Our families and friends near and far have all been our supporters and carried us through hard times. We’ve all learned more about special needs and gained so much from her resilient example. There is not a day - heck, even an hour - that we are not reminded what a precious gift Bryn is to us. We have learned how to celebrate every single victory no matter how big or small it may be. Even when we are discouraged, she is still beaming with love, arms raised waiting to be picked up and assures us that everything will be okay!