Our GSD Story
“We knew Penny was special from the beginning.
She was tiny. About 4 weeks before Penny’s due date, the doctors gave us some exciting news–Penny was coming early! In fact, the doctors wanted mom to go in and be induced that very week!
Doctors felt that Penny was “growth restricted” in the womb, and that she would probably grow better once born. So Penny came into the world 3 weeks early at just a hair under 5 lbs.
In those early critical moments, doctors quickly checked all her vitals and everything seemed great. That is until we checked her blood sugar.
The very first blood sugar test of her entire life displayed a reading of “low”, which, per that monitor, meant less than 10. At first we had no idea what blood sugar was supposed to be, or when to be alarmed, but we quickly learned that a reading of “low” meant that Penny had very literally had a brush with death. Penny was rushed to the NICU and there received extra special care and attention for 8 days. Like many new babies, she had a difficult time learning to eat, so we originally thought that her low blood sugar issues were entirely attributable to that. With a week in the NICU, Penny was eating better and we were told we would be able to take her home.
Mom went home to grab an outfit and some other things for little Penny so that she could go home. Before she left she checked in with the nurse and asked if the nurse could feed Penny while she was gone. The 2-3 hour feeding time came and went and Mom returned from home excited to dress Penny in her outfit to go home. Upon Mom’s return the nurse was taking Penny’s routine vitals and was confused as to why her temperature would be 2 full degrees lower than normal. The routine blood sugar check came next and again the dreaded reading “low” appeared on the glucometer. A flurry of nurses rushed over and once again had the challenge of starting an IV on Penny to stabilize her glucose. She was eventually stabilized but to our dismay, we were not able to bring Penny home that day. I asked the nurse how Penny had done on her feeding while I was gone. She said that Penny woke up but then fell back asleep when she was getting her feed ready so she did not wake her up to feed her. That meant it had been 6 HOURS since she was last fed.
The next day Penny improved and with regular feedings her blood sugar levels seemed stable so we were finally able to bring her home.
In the months that followed however, we dealt with the frustrations of new parents. Penny was throwing up a TON. Not just little baby spit ups, either. They were full on, projectile vomit, torrential downpours. Several ounces at a time would come shooting out of her mouth and nose.
At her first “well” visit, Penny’s doctor noticed that she had an enlarged liver, and referred her to a specialist in the area. That first doctor’s visit marked the beginning of the journey that would ultimately result in Penny’s diagnosis with GSD1A. Some severely elevated liver enzymes and a low blood sugar reading landed Penny in the hospital just a few weeks after we had her home. After a few days, many blood tests, x-rays and ultrasounds the doctors officially had no idea what was going on.
After her stay in the hospital, we followed up with a GI specialist, who lead us to the liver specialist, who then lead us to metabolic genetics for a closer look and 4th opinion. The metabolic geneticists were able to narrow down Penny’s condition to either:
-a glycogen storage disease, or
-a mitochondrial disease
Just a few days after this visit, that Penny’s diagnosis was unexpectedly accelerated.
It was Tuesday, Penny was with the baby sitter for a couple hours while mom was at work.
She was asleep, so the baby sitter didn’t wake her up for a feed. Mom picked her up a short time after and after she arrived home with Penny, noticed that Penny was not acting normal. All of a sudden, Penny began convulsing. Although she was conscious, her tiny body was shaking uncontrollably. She was having a seizure.
Mom quickly got her in the car and took her to the hospital.
On the way out, she tested Penny’s blood sugar, and once again got the dreaded reading “low.”
At the emergency room, Penny was treated quickly and her blood sugar improved. This time, the doctor’s concluded that she had a urinary tract infection (UTI), which had caused a fever, which in turn causes an unusually high demand on blood sugar. When Penny’s blood sugar had dropped low enough, her little body had seized.
A likely explanation, and after just a few hours (and one spinal tap which the doctor later realized we didn’t need), we were back home with our precious Penny.
On Thursday (2 days later), Penny was headed in for her follow up visit with metabolic genetics and wouldn’t eat.
Mom was alarmed because she hadn’t eaten much the night before either, so as soon as we got in to the doctor, we tested Penny’s blood sugar. Again we got a reading that scared us–10.
Immediately, the doctors sprang into action. They radioed over to the adjacent hospital and we began running with Penny to get her there as fast as we could.
As soon as we got into the hospital, we got Penny into a room that had been set up on our way over. Several doctors and nurses began crowding into the tiny room, hooking her up to various wires and tubes.
Mom and dad were in the back corner of the room trying to stay out of the way and watching the ensuing urgency.
Penny was put on a D-25 dextrose mixture, and immediately ordered an ambulance for transport to Primary Children’s Hospital in Salt Lake.
That moment is when we knew Penny had something much more serious than a urinary tract infection or trouble eating. We were informed that Penny had a condition known as Glycogen Storage Disease 1A, which affects her ability to metabolize stored sugar when her body needs it.
Penny was admitted to Primary Children’s Hospital, and the following 8 days were the hardest, scariest and most nerve-racking in her short 5 month life.
She was under the care of both a primary physician team as well as a specialist team, not to mention 2 different nurses a day.
Mom and dad were still so new to her condition, but quickly learned there are some extremely critical instructions for Penny that had to be followed with exactness. If she wasn’t fed at an exact time, her blood sugar could drop dangerously low in 20 minutes or less. Every single medication she was given had to be “sugar-free” and “flavoring-free.” She had to be given a specific kind of formula, and a specific amount. If she was given too little, her blood sugar would not be sustained through to the next feeding time. If she was given too much, her little stomach couldn’t hold it, and she would throw it all up, making it worse than if she had just been fed a little.
Because her little life hung on the ability to get the sugar she needed at regular intervals, she had to have 2 working IVs at all times in her. If one IV came out or was otherwise rendered unusable, she had to get another one immediately. If the nurses were not able to get the IV in her tiny little veins, the IV team had to be called for. Penny would scream for several minutes straight as the nurses attempted to get the IV in her.
Because Penny’s disease is so rare and serious, each time there was a “changing of the guard” with doctors or nurses, we had to reiterate how critical her instructions were. Many times there were oversights, mistakes, or misjudgements made by the nurses and the primary physician team. At one point, Penny was 12 hours away from receiving a permanent and life-altering surgery that she didn’t need. Because mom and dad were the only true constants in the room, we did our best to question everything and check contradictory opinions with the genetics specialist.
At the same time, Penny was beginning to develop an eating aversion. Whereas she had been a great eater prior to hospitalization, she stopped eating once she was in the hospital (we think, due to the fact that she had a constant IV of sugar being dripped into her). We began working with a feeding specialist to try to ensure that we were doing everything we could to help Penny have positive associations with eating and not develop bad habits.
Through our vigilance and a kind and understanding (albeit sometimes uninformed) team at the hospital, Penny’s made some improvement. She had a minor surgery and was fitted with a “G-tube” in her stomach.
She was released from the hospital on the 8th day and since that time has shown some incredible improvement. We still deal with a scary and abnormal low from time to time, but now we are equipped with the tools to combat it quickly. We have become masters of the schedule, the night time checkups, feeding through the G-tube, emergency glucose dosages, and we’ve even gotten pretty good at venting gas out of her stomach after eating so she doesn’t throw up an entire feed.
There are still scary moments–when we get an unexpected low read on the glucometer, when we hear an alarm sound in the middle of the night, or when the G-tube site leaks.
But thanks to the good fortune we’ve had to be in a place where there are specialists that understand GSD, Penny is showing some remarkable progress. Trying times lie ahead as Penny gets older and the many dietary restrictions become more of a factor, and harder to control. For now though, we are counting our blessings that little Penny is safe and happy.” -2013
When we found out Simon would be joining our family we knew there was a good possibility that he could have GSD1a. With each pregnancy there is a 1 in 4 chance (25%) that the baby could have it. Because of the traumatic experiences we had on the road to Penny’s diagnosis, we decided to do pre-natal genetic testing to have no doubt about GSD1a when Simon was born. At about 16 weeks, the day for my amniocentesis came and went. For weeks we awaited the results. The phone call came and my doctor told me that our little boy did in fact have GSD1a. We weren’t upset when we found out…I think we were almost expecting it. We had dealt with GSD once, so our experience gave us hope that it may be a little easier the second time around. There are a lot of draw backs that come with GSD, but we also knew that having a little boy with GSD would give Penny a buddy to relate to. Someone to really share it with. Someone so she is not alone.
Because of the great care and direction that Penny and Simon receive, today they are doing great! They still have a few challenges but overall they are thriving, so much that we decided to follow a dream that started long ago. We packed up, sold our house and moved abroad!!!
Life often throws some crazy things in our path but we try to show Penny and Simon that anything is possible! They have been a great example to us… they often remind us that we can do hard things AND bear it well! Here’s to our rare little ninos!!!!