Journey to a G-tube: 'Grace's Tube' to Health
by Kristen Wilsey (Grace’s mom)
"One of the most challenging symptoms of NGLY1 deficiency is “failure to thrive”, or the inability of a person to gain weight and stay on the growth curve for their age and sex. Another difficult challenge is the coordination of swallowing and preventing gagging while eating.
This certainly has been the case for Grace. Since birth when Grace was born full term at just 5 pounds, we have struggled to help Grace gain weight and adequate nutrition. I remember the stress of weighing her after every nursing session or long hours spent at the table coaxing Grace to eat more food. Over the 1st 10 years of Grace’s life we tried everything: butter in her bottles, high fat supplements, appetite stimulant medication, behavioral programs in front of an iPad so she would eat more volume, feeding therapy weekly with daily exercises, and more.
This “failure to thrive” symptom of Grace’s ultra rare disease has brought some of the greatest daily stresses.
Feeding your child feels so incredibly personal. As a mom, I feel responsible for ensuring my child eats well and gains weight so she can grow and “thrive”. Although we were told this symptom is part of many other rare conditions, I could not help but feel personally responsible for the poor feeding. I would often blame myself for Grace not eating more than a few bites. This was further complicated by swallowing issues and eosinophilic esophagitis (EoE) where Grace would gag on food and vomit, sometimes daily, until treated. After Grace’s younger brother was born, we weaned her off the iPad for meals so that we could have a more enjoyable family experience rather than having Grace on technology for 30 to 60 minutes at dinner. This worked for a bit and we were able to diagnose and treat Grace’s EoE, which decreased the gagging from daily to just a few times per month. For a few years from age 5 to 8, Grace continued to be small, but her body mass index (BMI) was in about the 50th percentile, so this was reassuring to us and her medical team.
What is puzzling is that Grace has always had an amazing pallet. She will eat nearly everything (sorry Matt, no donut love here!) orally. Her favorite foods are salmon and kale smoothies thanks to the “Minding your Mitochondria” nutritional plan. The staff at her school smile as she is the child who always brings in the most varied lunch items (asparagus, quinoa, avocado, and chicken rather than a sandwich). One of her first phrases on her communication device was “eat vegetables''. And she means it. While Grace will eat everything, the problem has always been that it was never enough. She has never been able to meet her daily caloric needs. While she cannot walk long distances and still cannot jump or run, her movement disorder where her limbs are always gyrating uses up all of her stored energy, leaving nothing to help her grow.
By the middle of 2019 when Grace was approaching her 10th birthday, we realized that her BMI had been dropping. She went from 50th percentile down to 0. Yes, zero. In addition, her height and shoe size had not changed in years. She had been in size 5 clothing for 3 years. We explored our options with endocrinology (growth hormones?) and gastroenterology (GI). It was then that we decided to make the very difficult decision to surgically insert a gastronomy tube (g-tube).
This was a very emotionally laden time for me especially. We had just welcomed our third child who was gaining weight easily by leaps and bounds. Grace, on the other hand, was losing weight. I felt like I had failed Grace. In many ways, it can feel like choosing a g-tube is somehow “giving up”. Some professionals, particularly feeding therapists, have a very strong opinion to avoid a g-tube as much as possible.
As it turns out, inserting a g-tube for Grace was one of the best medical decisions we ever made.
This was 2 years ago on October 11, 2019. As many other special needs parents and even others in our NGLY1 global community have said, they wished they had done it sooner. I absolutely agree. The g-tube has benefited not only Grace’s health and growth, but the entire family. Reflecting back on the last two years I can clearly see the amazing progress:
- Grace has gained nearly 17 pounds (going from 40 to 57 pounds) and is finally back on the growth curve
- Grace has gained nearly 2 inches in height
- Grace is getting adequate nutrition and still eating orally
- Grace is finally fully hydrated
- Medications that were a struggle to deliver orally can now be easily delivered
- Grace is on a fully organic food-based formula instead of one that is high in sugar and processed fats
- Family meal time, while still chaotic with 4 young children, is far more enjoyable and less stressful for everyone
While not without its challenges including learning how to use the pump or measure formula, teaching caregivers at home and school, and having the g-tube come out (by accident with a curious 18 month old who pulled it out in the bath!), overall the experience has been life changing for all of us.
For Grace, she is growing. For the first time in her life I am having to buy her new clothes a few times a year. She is sleeping much better during the night. She seems more alert most of the time and even her skin looks clearer and fuller due to the nutrition and hydration.
As for me, I still have occasional moments of worry when Grace does not eat a good meal, but I have the insurance of the g-tube. We give 3 meals and 2 snacks orally each day. If Grace just won’t eat dinner, I know she is getting basic nutrition with the g-tube formula we give at the end of the meal.
Finally, Grace is no longer failing to thrive, but is flourishing in many ways despite her medical and developmental complications. We like to smile and think of the g-tube as “Grace’s tube” to health."
For more resources on feeding difficulties and feeding tubes in NGLY1 Deficiency
Please contact Grace Science's genetic counselor, Caroline Stanclift, MS, GC via email at caroline@gracescience.org or by phone 650-746-4591.