As the saying goes, it takes a village to raise a child, so I'm asking for your help on this one. After 6 months of poking and prodding, Blythe was diagnosed with a rare metabolic disorder. I believe she can grow up feeling normal if we face it openly and honestly and with the support of our friends and family.
She’s not broken, just different.
The Journey
At the February 2018 Holtville Carrot Festival, Crosley pooped in the parking lot. Like literally on the asphalt. And then she stepped in it. I was at my wit’s end after dealing with that very crappy situation, so I left a cleanish, smelly-shoed Crosley with Blake so I could get back to watching the parade with “the easy one”.
At six months old, Blythe was a happy kid, so deep in a chunky phase that from the side, you could barely see her nose poke out past her cheeks. Many passerbys stopped to say things like “she’s so big!” and “little gordita!” They pinched her cheeks and patted her belly and I used my last ounce of strength to just smile and not let it offend me.
At 14 months, Blythe started walking, and I was consciously excited that people would finally stop talking about her size and weight. We assumed her arms and legs would start to fill out. And they did. But her tummy continued to grow.
At her 18-month check-up, I asked the pediatrician if Blythe’s “Budha belly” was normal. He laid her down laughing and said yes, it was common in toddlers. But after pressing around her abdomen, he wasn’t laughing anymore. He said it was probably nothing, but he recommended we take her to get an ultrasound. Because it felt hard.
I almost ignored the recommendation. I’ve never been a hypochondriac, in fact, quite the opposite. I’m the parent that says if you’re not bleeding, you’re fine. Blythe wasn’t broken. She just had a tendency to polish everyone’s dinner plates and an hour later still want more. In my mind, she was overweight, and maybe it was time to cut back on the sweets.
But the other moms convinced me to go. Because if I was wrong, I’d carry that guilt forever.
After the ultrasound, we were called back into the pediatrician’s office and told that Blythe’s liver was enlarged, her liver enzymes were far out of range, and we needed to see a specialist. In the next few months we bounced around the Rady’s hospital gastroenterology (GI) and metabolic departments where each doctor told us “she’s a puzzle”.
Based on her bloodwork, they expected her to be lethargic, angry, and regressing in motor skills. Descriptions that couldn’t be more opposite of our little girl. They said her liver was double the normal size and her AST liver blood test should be under 36 but hers was 325! The metabolic specialist said it was the largest liver she’d ever seen in a child. And it broke my heart.
We couldn’t comprehend that something might be wrong with our sweet little girl, so we prayed for Blythe constantly, and we felt an overwhelming peace that no matter what the outcome, Blythe was going to be ok.
Blythe’s tummy continued to grow, at one point reaching 8 cm below her ribcage (livers typically stay completely protected behind the ribs). I’d hear strangers lovingly say “ah, dios mio, gordita!” and I’d offer a short smile. They weren’t trying to offend me, but inside, I hurt. They didn’t know that my heart broke every time I rolled up her pant legs because the pants that fit around her waist were too long in the legs. Or that I often had to turn away to wipe tears when I saw her bare belly in the bathtub, so big that she looked six months pregnant.
We prayed she wasn’t in pain. We prayed we were doing everything right. We prayed for answers, but for months, all we got back was a feeling of peace and an odd sense of gratitude. Gratitude that despite an enlarged liver, it still appeared to be functioning. Gratitude that Blythe was growing and developing (minus her hair…that hasn’t really been growing…), but most of all, a deep gratitude that we had a Blythe at all, so sweet and full of a genuine love with an infectious smile and tight hugs and a giggle that will turn your day around.
We trusted the peace we felt. But at each doctor visit we heard the same thing. She’s a puzzle. And absent an invasive liver biopsy, no one knew why.
In June I became a stay-at-home mom and decided to focus on feeding me and the girls healthy food. I made sure they had a carb and protein and fruit or veggie at every meal. We had crackers and yogurt for snacks, and rarely ended with dessert. We didn’t know what was going on inside Blythe, but I figured feeding her healthier meals was the least I could do.
At the end of June, five months into this journey, we met with the GI doctor again, where he told me we’d reached the end of our non-invasive options.
He likened Blythe’s liver to his wife. He knew that she was mad, but he didn’t know why. Did he miss their anniversary? Did he say something wrong? Without getting into her head, he wouldn’t know.
Blythe needed her blood drawn one more time. then I’d wait for the call to schedule the biopsy.
I held myself together through the appointment and then the follow up blood draw and urine sample. But when we got to the car, a waterfall of tears overcame me.
God, where was the peace and the comfort? Why did we feel so at ease all that time just to end up here? My faith shook. And then I remembered that we don’t just follow Christ when things are good. It’s in these tough times that we need our faith the most. So I let myself cry the whole way home from San Diego, but I chose to trust the Lord’s path.
Two days later I got the call. I was in a better place. Mentally prepared to hold my daughter’s hand while they sedated her. But the doctor was upbeat and ecstatic to tell me the news. Blythe’s latest bloodwork showed that her liver enzymes had dropped by half! He canceled the biopsy.
Whatever his wife was mad about, I guess she looked happier.
I got off the phone and tears poured out. I squeezed Blythe tight, I called Blake, I called my mom. We cried together. And I imagined Jesus with a smirk on his face. Blythe was still a puzzle, but the peace and gratitude we felt was overwhelming.
A few weeks later I got a call from Metabolics and they were adamant I come in for an appointment immediately. I asked them if they'd talked to GI out of fear they were going to reschedule the biopsy, but they reiterated that the doctor needed to see us. I didn't understand the urgency but continued to feel peace, comfort, and gratitude while we were distracted at the beach celebrating Blythe’s 2nd birthday.
A week later, Blythe and I walked into the metabolic department of Rady’s. It was three days before her second birthday and six months after alerting the pediatrician to her big tummy. Doctor Annette Feigenbaum came in with palpable excitement. They’d ran a DNA test on a recent blood sample, and she’d solved the puzzle.
The Diagnosis
Blythe had Glycogen Storage Disease. Type IX.
I was in shock. My only knowledge of glycogen storage was that it was the reason I carb load before a race and depleting it is the cause of "the wall" you hit around mile 20 of a marathon.
I wished I had Blake with me, or my mom. I had a thousand questions but focused on absorbing as much information as I could.
The doctor explained that Glycogen Storage Disease type IX is so rare that only 1 in 100,000 people are affected by it. But added that this type is less dangerous than the others, and fortunately, this particular disease is well understood. She said it meant Blythe's body is deficient of an enzyme used to convert glycogen stored in the liver to energy.
Quick lesson in physiology:
Your body consumes carbohydrates for energy. Sugar, a subset of carbs, is either used right away or converted to glycogen to be stored in the liver for later use. Other carbs have a longer window before they are also converted and stored in the liver. Once stored, Blythe has limited access to it. Therefore, her liver became very big (hepatomegaly).
And when the body fasts (3-4 hours of not eating in the day, or 8 hours of sleep), it draws on glycogen stores to regulate blood sugar. Without that functionality, Blythe is more at risk for hypoglycemia (low blood sugar), which in extreme cases, could put her in a coma.
So what that means to us is that Blythe cannot over eat nor under eat.
She needs to consume food at a steady rate throughout the day without over or under eating. At her age, it means a daily limit of 25 grams of sugar (approx. 1 cupcake, i.e. no more cupcakes), spread across three meals and four snacks. Simultaneously we have to limit her fat consumption to 25 grams per day because her higher carb, higher protein diet doesn’t leave room for excess fat (extra fat could cause unnecessary weight gain, and if you’re thinking of suggesting the keto diet, the answer is a hard no because ketosis could cause her blood sugar levels to nosedive).
It’s significantly more complicated, but the point is this: there’s no cure and no pharmaceutical treatment. Unlike diabetes, there’s no shot to take if you mismanage the nutrition. It’s 100% diet based.
After the diagnosis, we met with a dietician for nearly 45 minutes, and the total miracle is Blythe’s new diet almost completely mimicked how she’d been eating in the previous month since I’d become a stay-at-home-mom. Likely the reason her liver enzymes dropped in that last month.
Moving Forward
Now we continue to pray that her liver either reduces or stays the same size as the rest of her body continues to grow. And there’s even a chance that she can clinically outgrow the symptoms of this disease in puberty or adulthood.
We still have a lot of questions and we're learning something new everyday. We're learning how to talk to other parents about it, but the harder challenge is knowing how to appropriately talk to kids about it.
We know kids have a tendency to ostracize the one that's “different”, but I'm realizing that kids can be so caring and understanding when you're open and honest with them. Blythe's cousins even asked to occasionally eat sugar-free treats around her so she doesn't feel excluded, and my heart exploded with love and admiration towards these little people.
I know we have some tough days ahead of us. Birthday parties, Halloween, Easter, Christmas. Everywhere you turn, people want to give kids candy. But for now, Blythe is only two years old, so she doesn’t notice when I sneak her sugar-free pudding while the rest of the kids eat cake and ice cream.
And I expect to get eye rolls from people who think I’m just a mom that doesn’t let my kid have sweets because of some “made up allergy”. But maybe they will see Blythe’s infectious smile and loving personality and realize she’s already full of sugar.
What I do know is that Blythe is happy. And God has incredible things in store for her that are far bigger than her tummy!
If you have any questions, please feel comfortable asking. But also, please don't feed this particular animal...because Mama's tracking every crumb!
Well said Autumn
As Iron sharpens iron Proverbs 27:17
Now you know what you are dealing with. When I worked with children in the snack area in summer camp, several children had special eating needs and the moms just provided the right snack. I don't think those kids fussed at not eating what the others ate, it was what they had done all their lives. She is such a cutie and sweet too.