The Diagnosis Journey Of Quinton Brittle

By Erin Brittle

2015, it’s a boy! We noticed Quinton wasn’t meeting his kick counts or moving on average. Ultrasounds & stress tests were consistent from there. Doctors ran tests, things weren’t making sense. The doctor told us something was wrong with Quinton. They could go into the sac via needle for further testing, or we could wait for birth, we decided to wait. Due to my blood antigen being high, they decided to induce labor. He came 2 weeks 6 days early. He was Sunnyside up with complications. He had torticollis and CP. He had jaundice and was put under bilirubin lights and blankets. He was in NICU 4 days, came home on Valentines. Quinton met all milestones until 6 months, then he stopped, he was lost, he was stuck in his body. He quit making baby noises, rolling, scooting on his back and he couldn’t do tummy time anymore. Quinton got referred to the geneticist. He was now 7 months.

Here started Quinton’s journey.

The geneticist was on a team that discovered a certain type of CDG in a family of 16. He thought maybe CDG was it. Testing began. Quinton raised 3 flags, but nothing came about. Quinton met a metabolic specialist Doernbecher Children’s Hospital. Doctor said he had never seen a child like Quinton. Back to the geneticist again. A whole exome sequencing was ran, nothing. In 2017 on my 3rd child, the pregnancy was similar to Quinton’s. 6 months old she lost mall milestones. Quinton’s now 1 1/2, they started testing our third child. They ran CDG testing and she matched one of Quinton’s flags. The geneticist thought they shared the same disorder. Now 2018 Quinton’s 2 our youngest 1. They were entered into a sibling study at the UDN in California. October 2019 they had whole genome sequencing. April of 2020 Quinton, 4, was diagnosed with NGLY-1. We were told it was CDG with a twist. That was it, we were sent home. We continued with our daily routines and therapies. May of 2020 Quinton was diagnosed with severe hypotonia, Cone rod dystrophy 19, CP, global developmental delay, cognitive delay, seizures and autism level 3. In 2022 we noticed we weren’t getting anywhere with doctors. We as parents did further research. I saw in the newspaper a doctor at the Mayo clinic specialized in CDG. She had helped a little girl. We thought it was worth a shot. We called the Mayo and registered Quinton with a Mayo number immediately. They informed us that we have to live in the state or surrounding states for insurance to help. It’s not a guarantee he’ll even be seen. We had to try! At that time we lived in Oregon, so we sold our house. We journeyed to Minnesota, January 2023. Our new family physician put a referral to the Mayo. They called in April, Quinton had been accepted! After 7 long years Quinton was going to get answers. July we met the doctor.

It’s not CDG with a twist, all those doctors in Oregon had been wrong.

It was NGLY-1, in the CDG family but different. NGLY-1 is CDDG, his proteins and sugars cant break down. It’s Congenital Disorder of Deglycosylation. Our family lived 7 years thinking it was one thing, just to find out it’s another. After that appointment at the Mayo Quinton became a trial. He started Abilify for his   movements caused by NGLY-1.He is the trial. He’s been on it since August 2023, he’s doing fantastic! Before the medication he couldn’t feed himself, rollover well, communicate much, keep his weight above 41 pounds or play. Now he can do all those things with ease! He can play with his sisters and is 52.6 pounds! Before the medication he couldn’t control himself at all. Arms and legs flailing like a tube guy in a car dealership parking lot. Now due to the medication he is steady! Being a parent of an NGLY-1 child, it’s great to see steady.

It’s not easy being a parent of a child with NGLY-1 “not knowing”.

The unknown is incredibly frightening. Not knowing if they’re going to wake up. Not knowing if they’re going to be able to eat or drink, if they’re going to need a g-tube or not. What therapy is needed, what therapy is hurting them physically. Our son is mostly non- verbal, how is he feeling? It’s a guessing game. As a parent we know nobody’s life is promised for tomorrow. NGLY-1 children most definitely. Living day for day praying for a cure. Hoping your child wakes up in the morning. Hoping your child makes a friend. Praying people will treat your child normally. Why did our child get this ultra rare disorder, did we do something wrong? NGLY-1 may have crippled our child but it will not cripple his soul. He is kind, loving, joyful, silly and always happy. He is our light. He is Quinton. We thank God for bringing us the NGLY-1 community. They have helped bring light to our family over this past year. We look forward to continuing to be a part of the NGLY-1 family. Thank you for everything Grace Science Foundation!

We love you, the Brittle Family.