Written by Willow’s mom, Anna.
We noticed Willows development was delayed at three month old. We were told to prepare for at minimum three years of testing, and that we may never get a diagnosis. Two weeks before her second birthday we were at an appointment with her genetic doctor when the diagnosis of NGLY1 was delivered. We were fortunate to learn at such an early age, we know many families have waited much longer. We continue to support Willows development at whatever pace she needs. She continues to make us better people in immeasurable ways.
As she interacts with the community she will have the same effect on them as she has had on us.
Our family’s story
We have a son who is seven years older than Willow and is healthy. He’s also very protective of his little sister! Our primary focus from the very beginning has been physical therapy and regular monitoring with a variety of professionals that make up her healthcare team. Willow has not lost any skills and although she’s learning them at a slow pace each one feels like a tremendous victory. She’s able to get up to her hands and knees, scoot forwards, sit independently, hold her bottles and play with various toys.
Receiving her diagnosis connected us to a network of wonderfully bright, kind, resilient families & professionals willing to share their knowledge and experiences and we are very grateful for the opportunity. So far we have not seen seizures or impaired liver function early on like others have faced, which leaves us cautiously optimistic.
Our goal is to show our children that challenges in life are meant to strengthen us and should not be feared, so we remain strong and fearless!
What are your child’s favorite things?
Willow loves to watch shows from a cable TV channel called “Baby TV”, fortunately they have an app which makes doctor waiting rooms a lot less stressful! She’s fond of stuffed bunnies, especially their floppy ears and she is also very interested in musical toys.
She can be very silly at times, and her favorite game is to remove her shoes and socks as soon as possible!
Are you an NGLY1 family?
We would love to share your story – click here for more details!
Meet Willow H.
2-1/2 years old