There is Joy to Being Rare

Updated: Jun 21

A story to understanding health and balance of Glycogen Storage Disease (GSD)

The best giggles, the cutest dimples, the sweetest eyes, the most lovable hugs, the mind of a thinker, and a heart full of kindness. These words describe my 3 year old son Christopher perfectly.

I have seen from day one that God created a second child for our family that is perfect. He is the additional joy that has been gifted to us as He trusted us to be his…

…Parents every day

…Caretaker around the clock

…First responders to show him love any day

…Voice in the world while he is young

…Rock in the moments of sadness or difficult times

…Teachers to understanding life

…Guide through his faith

…Role model in strength and abilities

God created us to be here with him, in these moments of his life; and I accepted that role the day we found out we would welcome another joy into our family.

With this gift of motherhood, it is so important to trust in your heart, faith and what they say "mom gut". Moms before me have said to listen to it. To trust it. Now, rewind back to two and a half years ago when I had this “mom gut” feeling that something wasn’t right with my son’s health. Yes, he was a chunky cute baby. Yes, he looks like a normal child. Yes, he giggles and loves and eats and runs like the other kids his age. But there were things that I felt that didn’t feel “normal”.

I had a running list of all the things that felt off to me, because as a sleep deprived mother somethings would slip my mind. First big thing was that from birth - 19 months (the time when I weaned him) Christopher wanted to nurse all hours of the day and night every 2-3 hours; this went on for 19 months (((insert the exhausting mom feels as I nursed him approximately 4000+ times))). The second thing was how often he would be sick. His first cold was at 2 weeks old and he continued to get sick every month multiple times that it would take him 2+ weeks to get over anything (his body never caught a break). The third thing was sleep. He would fall asleep anywhere: in the middle of play time, in the high chair, at the playground. From his infant days, onward his naps lasted no longer than 30 minutes. And his incredible ability to nap anywhere he never figured out how to sleep through the night or even longer than 3 hours (this is still the same). These things just didn’t seem right to me.

So at age 16 months the pediatrician had us speak to a sleep doctor. Honestly, that 2 hour call with this expert sleep doctor was a bit of a joke. The doctor told me “This is normal. Other cultures follow cues of the child with sleep and feeds. Western cultures create this boxed idea of what sleep and eat should be. Follow your son’s cues and do what's right for him.” Those were his words and I will never forget because I thought he would be of more help than just telling me about how other cultures raise their kids. I couldn't accept his words. They didn’t sit right with me. My mom gut said that is not what’s going on. There is something underlying that he just didn’t want to help me figure out.

After that conversation I spoke to the pediatrician and he said “It may be getting close to the time to start weaning him so he will eat more things and drink cows milk that is fatter.” I heard what the doctor said, but I didn’t feel like it was time to wean at 16 months. So I continued nursing every 2-3 hours (and through the night) because it’s what he wanted. But by 18 months I was getting exhausted and decided, it’s time. So I slowly weaned him and switched to cow’s milk for him. By 19 months he was weaned. And we switched the nurse sessions, to sippy cups with milk. By the night of his 2nd birthday he had his last milk in the night (the pedi said it’s time to cut the night bottles). The milk journey was a lot from the length of nursing to telling my son “no more night milk”.

He continued to wake up in the night, even without the bottle. And let me tell you. Those were the hardest nights. When my child went 24 months of having something to drink; to then going cold turkey without a drink. It was a ‘break your heart’ kind of hard. Now that we followed the doctor's guidance, I thought “this will get easier”. So I listened. I read all the mom blogs on how to stick to this plan. I kept telling myself:

→ My son will sleep through the night.

→ My son doesn’t need milk at night.

→ Humans starting at the baby age have the ability to sleep an entire night without a drink or food.

→ My son can do this, he is 2 years old.

The days went on. I was starting to get frustrated. And like the feelings I have of my child’s health didn’t matter. I went through moments of thinking that the doctor may be thought I was a crazy mom. Or that I was a hypochondriac mom. And then there were many times I would share what was going on with family and friends, and the responses were normally “He’s ok” or “It’s normal”. I was going through lots of doubt of myself and that maybe I am overthinking it. But in my heart I knew something was off.

Going back to my running list, the red flags were there. Something was off. In his 2 years we had multiple growth checks for Christopher because he would lose weight or his height growth would completely stop. Add in the sleep issues, constant desire to nurse and how he easily got sick; something is going on. And I want someone to listen to my mom-gut. So we spoke to an endocrinologist about a possible growth hormone issue. Could this be what's going on I wondered? She mentioned Glycogen Storage Disease, but said genetic testing would need to be done and she said it is very rare so it may not be that. But this specialist along with our pediatrician said “Let’s wait until he is 2 years old before we run more tests.”

May 10, 2021. HAPPY BIRTHDAY Christopher, you are 2! Now let’s get an appointment to schedule those tests.

May 17, 2021. (7 days after turning 2) Christopher was not ok. Something was off. He was sick with something. This wasn’t just a bug making him like this. He was pale. He was throwing up. He went 24hrs with no wet diaper even though we were giving him fluids. I could feel his heart racing as he layed asleep on top of me. He was in and out of it. He was having headaches. I put in a call to the pedi and as I waited, I texted my cousins who were moms with kids my kids age, two are in the medical profession. They all suggested it’s time to go to the hospital.

Off we went to the hospital and luckily when we got there, the wait wasn’t bad. They did all the normal vital checks and this was the first time his sugar was ever tested; 32! They admitted him and started an IV and began the test. And this is when for the first time I was being heard. Something just isn’t right I said. I shared his 2 years of life story. And I will never forget, the doctor sat with me and listened. She took notes. She said “Your mom gut is a real thing.”

Wait. What? You believe me that I have a mom-gut? You are not dismissing me, thinking I am over reacting??

She sat there with me. She listened. She ran countless tests (75 to be exact). One big red flag popped up showing Christophers Ketones were 2.8. It was then that we first learned the term “Idiopathic Ketotic Hypoglycemia” (IKH). My son was having his first major episode.

Once they had a label for what was going on they started going through our family history to figure why this is happening. “Diabetes” was something that kept coming up. As they went down that thought idea I just had this mom gut feeling that it wasn’t that. They mentioned a few different disorders related to endocrine or metabolic disorder diagnosis that they were running tests for; one of them being Glycogen Storage Disease type 0. By the end of the hospital stay we did not have a diagnosis, but just a name for the episode of Idiopathic (unknown as to what’s happening) Ketotic (his body was producing ketones) Hypoglycemia (low blood sugar). They connected us with a genetics and endocrinologist to follow up to figure out what was truly going on.

Fast forward to 1 month. We were visiting family in New Orleans and something wasn’t right. I could smell this mineral smell on his breath, but I didn’t have ketone strips to test him. His sugar kept dropping again. He was so lethargic. His heart was racing. So off we went to Childrens hospital New Orleans. That was when we had our first bad hospital experience. The doctor said “It’s a stomach bug, it’s going around. Here is some Zofran if he gets sick. Just go home, rest, and give him fluids.” I asked him 2x to check his ketones, he said he was fine. (No blood tests were run. No fluids were given.) So by this point we went home like the doctor said.

Well, the next day Christopher took a downward turn. He couldn’t keep the Zofran down without throwing up… His sugars were dropping into the low 40’s at my last check. Then he was so lethargic he wouldn’t wake up. We carried him from the house, to the car, to the hospital. He didn’t wake up until they IV started to flow and he perked up. His sugars were 32 and his ketones were 2.5. After lots of fluids, more tests, visits from so many doctors who were communicating with our Boston doctors; they all had an idea of what was happening - Glycogen Storage Disease Type 0. So they did a genetic blood test to see if that was it.

Unfortunately, it wouldn’t be an overnight answer. It took a few months for the results to come in. So in the meantime we met with a nutritionist who has studied this disorder and she helped us figure out a good diet for Christopher and a cornstarch therapy to help balance his sugars. Incredibly monitoring his sugar intake, cutting out the sugars his body struggles with and making sure he wasn’t eating foods that would make his body go crazy worked! Well, that and corn starch 3x a day in his cup of milk.

Magically Christopher turned a corner. He was growing and gaining weight at a normal rate. He had energy again. He didn’t fall asleep on the playground. The joy in my boy was back. It was amazing. Ensuring he is getting his corn starch can be hard at times because he doesn’t always want it. But his body needs it. We see that not only in his blood sugar levels, but in his day-to-day life.

Now that we are finally figuring out the foods that will help his body thrive, we finally got answers to the genetic test and a reason for the Ketotic Hypoglycemia episodes - Glycogen Storage Disease (GSD) Type 0 of the Liver. A big part of me was holding my breath, hoping and praying the doctor would say “We don’t know what’s going on.” A part of me just didn’t want a genetic disorder connected to my son’s story. But here we are.

Glycogen Storage Disease (GSD) is a rare disorder. There are 13 types of GSD. With one in about every 20,000 - 25,000 newborn babies with it. As for Christophers specific type, there are maybe 300+ people with type 0 of the liver in the US. So my little guy is my rare miracle baby boy, that I am so grateful to God for gifting him in my life.

I have learned so much about health. The human body. And GSD. I never in a million years would have thought I would be walking a journey of motherhood with a rare child, but one thing I know is that while Christophers diagnosis is rare, my hope is for him to have a bright and beautiful future full of joy in his and our future.

A quote from Pope Francis:

“There is a close link between the hope of a people and harmony between the generations. The joy of children makes their parents’ hearts leap and opens up the future. Children are the joy of the family and of society. They are not matter of reproductive biology, or one of the many ways of producing them, much less their parents’ possession. Children are a gift. They are a gift. Each one is unique and unrepeatable, and at the same time unmistakably linked to his or her roots. Indeed, to be a son or a daughter according to God’s plan, means carrying in oneself the memory and hope of a love that has become tangible by kindling the life of another human being, original and new. And for parents, each child is him- or herself, different, unique.”

— General audience, St. Peter’s Square, Feb. 12, 2015

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