Our Journey to NGLY1
My name is Tiffany and my daughter is currently 6 years old and living with NGLY1 Deficiency.
Just to give some background, I was told I couldn’t have children in my early 20’s and that I had “unexplained infertility” so when I became pregnant with my beautiful little girl, I was over the moon! Never did I ever think that we would be a part of something so much bigger. My pregnancy was rough for a number of reasons but Ava was technically full term when I gave birth (37 weeks and 3 days – born on 8/3/18). Our journey began when Ava-Rose was 6 months old. She wasn’t meeting the milestones that children typically meet so that prompted me to speak to the pediatrician at her 6 month check up. I was told that I was thinking too much into it and to give her time, so that’s what I did. At her 9 month check up, I insisted that there was something deeper going on and we were referred to neurology, genetics and early intervention. Little did I know this would be the start of the biggest rollercoaster ride of my life.
Time went on, Ava began early intervention at 11 months old including speech, ABA (applied behavioral therapy), physical therapy, and occupational therapy at the maximum allotted time per week foreach. We began seeing various specialists including but not limited to developmental pediatrician, geneticist, neurologist, physiatrist, orthotist, orthopedic surgeon, etc. All of which said “Ava is a mystery” and us having to walk away from all the labs, procedures, and tests with no answers to what was going on with my sweet girl. It felt defeating because although I never wanted anything to be wrong with my daughter, I wanted an answer so that I could figure out how to help her the best way that I could. This continued for years. Ava continued to show signs of various issues that she faced and with being non-verbal it was always a guessing game.
For a period of time, we always ended up in the hospital for things like rashes, Rhino virus or a possible seizure episode. Little did I know that NGLY1 Deficiency was affecting her in a multitude of ways. She is non-verbal, non-ambulatory, she required surgery for an Achilles tendon release in hopes that she could walk, hypotonia, epilepsy, constipation, global developmental delay and nerve damage in both legs to name a few. Nothing can prepare you for this. For knowing something is wrong with your child, feeling helpless and not knowing how to help them. Knowing how different their life will look. As a parent, it has been the most challenging and gut wrenching experience of my life. Despite all of Ava’s challenges, she still remains such a happy, silly, smart, strong, sweet, beautiful and resilient little girl. She is what kept me going. She has gone through things that most people will never go through in their entire lifetime. She touches the lives of everyone she meets, to know her is to love her! I have learned and continue to learn so much from her and I am so very blessed and grateful to be her mom.
When Ava aged out of early intervention at age 3, she began attending a private special needs school in New Jersey. They continued her therapies and focused on an ABA approach since that proved to be beneficial for her. We also did ABA at home through an agency at about 18-20 hours per week so she was a busy girl! We continued going to all of our appointments and all the testing that came along with it. Everything still didn’t give a definitive answer as to what was going on with her.
Fast forward to November 2023… still no answer but the geneticist had reached out to tell me that whole genome sequencing was now on the table and was covered by my insurance. She asked if we wanted to do it. I said absolutely! She and I submitted our samples again and just waited. Then on February 1st, 2024 we finally got our answer. Our geneticist relayed that the whole genome sequencing showed that Congenital Disorder of Deglycosylation (CDDG) or NGLY1 Deficiency was what was causing all of her problems. They then explained that this is an ultra rare genetic condition and that Ava is the 98th person in the world to be diagnosed. We were in shock. Who would ever think that they would have a child with such a rare condition? We were happy to have a diagnosis but we had no idea what this meant. The diagnosis came with a range of emotions. It was scary and still is but we are happy not to be in the unknown anymore.
We were then introduced to the Grace Science Foundation and our NGLY1 family around the world! Coincidently, we were one of two families in New Jersey that are a part of this small community. We got to meet our good friend Nick and it was such a beautiful moment that I will cherish forever. We are so very thankful for the Grace Science Foundation and their mission to cure NGLY1. It has been truly remarkable to see the progress that they have made even in the short time that we have been a part of the family. Knowing about our diagnosis and knowing the strides the Grace Science Foundation is making towards helping kids and adults suffering from NGLY1 gives us hope. We are also very blessed to have found our NGLY1 family around the world who has been so welcoming and kind. From the bottom of our hearts, thank you!
To my little mama, mommy loves you no matter what and I will always fight for you! Thank you for choosing me and thank you for being my reason why. I love you so so much!
Thank you for taking the time to read this. ❤️
By Tiffany Archilla
