Raising Courageous and Strong Sisters of GSD1A

Richie and Kelsey are the parents of two beautiful little girls. Quinn is 3 ½ years old and Claire is one month old and both girls have been diagnosed with a rare genetic disease called glycogen storage disease type 1A (GSD1A). This disease doesn’t allow the liver to release sugar into the blood resulting in severe hypoglycemia (low blood sugar). Additionally, those affected by GDS1A do not possess the enzyme necessary to break down extra sugars the body stores from food (glycogen) resulting in a variety of health problems including impaired growth, delayed puberty and enlarged liver and kidneys. There is a 1 in 20,000 chance of an individual acquiring this lifelong condition.

In October of 2020 Quinn was vomiting constantly and had a very distended stomach. A 10-day hospital stay revealed Quinn has GSD1A. Richie and Kelsey were trained to care for Quinn at home consisting of glucose monitoring and feeding her around the clock every 2-3 hours with a soy formula/cornstarch mixture. This 24-hour care is vital to keep Quinn alive and prevent seizures and brain damage while maintaining her delicate sugar level. Ultimately Kelsey had to resign from her job as a teacher and Richie began working 6 days a week to support his family and pay for Quinn’s feeding and medical expenses. Regular finger pricks for little Quinn gave way to the Dexcom 7 Continuous Glucose Monitor that she now wears. This monitor gives a more accurate, vital reading of Quinn’s glucose level and sends an alert as to when to feed her. Should Quinn’s glucose level drop to a dangerous level she must be given glucose gel to boost her level to prevent hypoglycemia. Quinn continues to be maintained on this constant monitoring/feeding schedule. Food texture issues, common with those with GSD1A, haven’t allowed her to try many foods although she has come around to pretzels, crackers, cucumbers, and trail bologna. Those with GSD1A will never enjoy sweet treats like candy, ice cream or even birthday cake on their birthday.

In November 2023 Richie and Kelsey welcomed Claire into the world. On December 27 testing performed by the Genetics team at Akron Children’s Hospital revealed baby Claire indeed has GSD1A like her sister. This grueling 24-hour schedule has been draining and difficult along with mounting expenses for medical care and special formula for both Quinn and Claire. Richie and Kelsey are determined to help their daughters battle this lifelong disease and show them love, strength and perseverance.