COOPER’S STORY: Living with GSD1a

Meet Cooper.  Cooper is a strong, three year old boy.  If you saw Cooper on the street you would not know that he battles a life threatening condition.

At four and a half months old Cooper was vomiting a lot and we assumed that he had an ear infection or strep throat. I took him to the Pediatrician’s office where an ear infection was confirmed, but the Pediatrician was very concerned that Cooper’s liver appeared to be enlarged.  The rest of the week was a whirlwind as we were sent to specialists and by the weekend we knew that Cooper probably had Glycogen Storage Disease (GSD).

Genetic tests later confirmed that he has GSD Type 1a, an Inherited Metabolic Disorder characterised by repeated severe Hypoglycemia (low blood sugar). Cooper must eat around the clock, including consumption of uncooked cornstarch (cornflour) which is a slow release source of glucose, allowing him to go longer periods between meals. He has a gastrostomy tube (g-tube) in his stomach, a type of port that allows us to administer feeds when he is asleep or ill.

Following Cooper’s diagnosis, we relocated from another state to Pennsylvania to be closer to family so that we could get some relief and help.  Little did we know when we moved that we would be blessed to find Dr Areeg el-Gharbawy, who is so knowledgeable about our son’s condition, and who is so compassionate, that we would be able to maintain our son in excellent metabolic control, at home. This was absolutely not the outlook or prognosis that we had been told to expect by his original diagnosing physician. Areeg  has empowered our family to keep Cooper safe at home to the maximum extent possible. She has educated us, shown compassion for us, and made herself available around the clock during times of illness to ensure that Cooper is safe, and that we as his parents understand his care requirements.

GSD 1a is very difficult to manage during infancy when every growth spurt, emerging tooth, and tummy ache wreaks havoc on the parents’ ability to maintain the child at home. But with proper dietary management and many sleepless nights, Cooper is safe, under good metabolic control, and growing like a typical child. He climbs on the furniture, fights with his older sister, and dances around like any other three year old.

Cooper is not to eat any sugar, including lactose (milk products) and fructose (fruit). At first, this diet seemed impossible, but it has proven to be very manageable. Cooper drinks soy milk and enjoys eating breaded chicken strips, vegetable chips, and french fries, and has even dabbled in mashed potatoes. Because he must eat so frequently, he seldom experiences hunger. He meets with a nutrition therapist every month and has spent time in feeding therapy to encourage him to maintain a healthy relationship with food.

As a mother, it is invaluable to me that Areeg has empowered me to understand my son’s needs and care for him at home in such a way that (although medically fragile), he is thriving, he is strong, and he is healthy. This is a gift she has given to my husband and I that we cannot repay. This is especially important given the asymptomatic nature of GSD-1a. Without her care, and the education that she has given us in clinic, we would not be able to sustain our son at home like this. In fact, in many cases, we would be unaware of the needs he has, since he appears healthy on the surface.

As part of an online GSD support group, I am aware of the relative health of many other children with GSD-1a. Based on my conversations with the, and comparing notes about the advice and care that they receive from other children’s hospitals, it is clear that the care, attention, and compassion that Areeg provides is not to be taken for granted.  I am humbled, my family is blessed by Areeg, and my son is thriving today, in large part because of her care.

For parents of newly diagnosed pediatric metabolic patients, I know that the experience can be very isolating and disillusioning. Find a strong medical team. Look for support online, including groups on Facebook, where we have found a support system that blows my mind. Expect it to be hard, as it often is, but stay strong. Your child will grow up knowing so much constant love and support and will see your strength on their behalf.  As my special needs parent-friends and I often say, “we’ve got this”.  And you do too. You’ve got this! Be strong, cry when you must, ask for help, and rest when you can. You’ve got this!

We love to share Cooper’s story as it is one of hope and health in the face of many obstacles!  God bless Areeg, and God bless all that Climb does for rare families!