In celebration of Rare Disease Day on February 28, 2022, the WSS Foundation led a storytelling experience featuring individuals with WSS and their parents. This story comes from Kayla Stoa in USA in reflection of her daughter’s early years of life and recent diagnosis.

By: Kayla Stoa, USA

Rare is many, rare is strong, rare is proud.

We never expected to find out that our daughter had a very rare genetic condition. But does anyone? There’s nothing that truly prepares you for that moment. All of the doctor visits, the procedures that had to happen, the endless amount of time spent googling her “symptoms”, none of it prepares you for hearing the words: “Your daughter has Wiedemann-Steiner Syndrome. We don’t have much information on this, but here’s a website you can look at.”

Remi was born on May 13th, 2020. She was a very tiny 6 pounds 6 ounces & only 18 inches long. She was absolutely perfect.

Our world was flipped upside down during her 24-hour newborn exam. We were told her aortic arch was not formed & that she was in the NICU being prepped to be flown to the nearest children’s hospital for open heart surgery. The only thing keeping her alive was medication keeping her PDA open. 

Remi’s always been called our miracle baby. She’s fought like crazy since day one. Two weeks into our hospital stay at birth, her heart issues corrected themselves. While she’s still labeled a heart baby due to her PDA being open & other things that have happened since birth, she’s never needed open heart surgery. She blew the doctors away when they realized she was going home weeks, if not months, earlier than any of us had expected.

Once we were finally home, we started noticing new things coming up. The biggest one was that she was not growing length wise nor was she gaining weight at the pace a “normal” child does. In August of 2020, she was admitted having an NG tube placed due to having the label “failure to thrive” but the doctor who would have placed that tube made the decision to not do this as she looked very proportional. This is when we first started seeing the genetics team.

After lots of testing & lots of guesses on what this could be, we received Remi’s official diagnosis on July 8th of 2021.

Our world hasn’t slowed down one bit since she’s received the diagnosis but she’s so strong throughout all of it. There hasn’t been one doctor appointment, procedure, test, where we haven’t heard “She’s so happy!”. 

Since her diagnosis, she’s had a procedure for her tethered spinal cord, g tube placement, ear tubes placed, and lots of scopes on her airway. In April of 2022, she will have airway reconstruction surgery due to subglottis stenosis.

She has come so far in her short life; she truly is the strongest little girl we know & we could not be prouder of her.