Minnesota mom: A rare glycogen storage disease

In medical slang, my son is a zebra.

Most of us will someday have conditions that are common — cancer, diabetes, heart disease — diseases with familiar symptoms as recognizable as a horse. But my 3½-year-old son, Bodhi, is a zebra.

There are few outward signs that Bodhi has an incurable disease. His developmental delay is felt, not seen. And the challenges he faces are often invisible or unrecognized. For example, for a full year of his life, he had so little energy that he rarely smiled.

Thursday, Feb. 28, is Rare Disease Day. But for thousands of families, rare disease day is every day.

There are about 8,000 rare diseases — sometimes called orphan diseases because so few people have them — each with its own challenges. With many rare diseases, it can take months, if not years, to get a diagnosis.

It took 2½ years for my son to receive a diagnosis, partly because for the first year of his life we didn't know he needed one, and partly because his doctors had never seen such a case before. Within a few hours of his birth, his temperature and blood-sugar levels plummeted, and he was sent to a special-care nursery. But when he rallied, we didn't press our pediatrician.

A year later, however, he started having seizure-like episodes that came in clusters, as many as 80 a day.

The first neurologist we saw assured us that he would have to be in constant seizure for hours before it would damage his brain.

The second one said it was likely that Bodhi was doing it for attention, that he was just a quirky kid. But as he turned to leave, he measured his head and the size — it was small — interested him enough to schedule an MRI. But don't worry, he said, he's not a zebra.

Until he was. The MRI revealed a brain injury, and we found ourselves headed to Mayo Clinic in Rochester.

Over the next year, we saw another neurologist, a cardiologist, opthalmologist, dermatologist (to harvest skin cells to be grown in a lab), endocrinologist, hematologist/oncologists, radiologists, surgeons, anesthesiologists (one who told me as I carried Bodhi into the operating room that my son may stop breathing, but that was OK), nurses and lab techs. He had a specialized MRI, ultrasounds, surgeries, DNA sequencing.

Our team consulted specialists in other parts of the country, in Canada and in Britain.

Ultimately, we were told that Bodhi, along with about 1,150 other people in the world, has a glycogen storage disease. He has the most common subtype, called type 1a or Von Gierke's disease, but he has a rare genetic mutation. At the time of his diagnosis, his mutation was the only known case in North America and Europe. I say first case with pride because two other cases have since been diagnosed — because they recognized it. They knew because of Bodhi.

What it means is that Bodhi is missing an enzyme that breaks down the sugar usually stored to use between meals. Instead, the stored sugar — glycogen — gets trapped in his liver, kidneys and other areas, damaging the organs and depriving the brain and other systems in the body of the fuel needed to survive. Without that energy source, the brain compensates by getting fuel in a way that creates waste products that can also damage organs, ultimately causing them to fail.

Bodhi also has a bleeding disorder, which means carrying around emergency instructions that specify how much blood he needs in case of a transfusion, a procedure he's needed only once so far.

A diagnosis was just the beginning of a life now filled with treatments — often chronic and expensive — and searches for a cure. Because rare diseases affect relatively few people, drug companies and device makers have little incentive to pursue what can be a multimillion- or multibillion-dollar research effort to develop therapies. The Orphan Drug Act of 1983, signed by former President Ronald Reagan, helped by giving financial incentives to companies that pursue treatments for rare diseases.

Still, families like mine have pinned our hopes for a cure on, frankly, the kindness of strangers. Philanthropic donations currently fund the entirety of glycogen storage research, led by Dr. David Weinstein, the world's leading expert on the disease, and his team at the University of Florida, who have partnered with researchers at Duke University and the NIH.

There is no cure for glycogen storage disease, but it is no longer a death sentence, as it was about 35 years ago. In other words, had I been born with the disease, and not simply as a carrier, I might not be alive.

There is no treatment. Instead, we try to prevent the symptoms with intensive dietary therapy — avoiding sugar of any kind, including all fruit and most vegetables; no honey; no dairy, and limited proteins. Every four hours, we inject Bodhi with a cornstarch slurry that his body can use for energy between meals.

Every. Four. Hours. This is the area where most families with the disease suffer the most. Waking every 3½ or so hours to mix up and/or take cornstarch. Frantic calls to teachers. Setting multiple alarms. Feeling guilty every time we forget.

Every decision has become a calculation. Will errands or a playtime take longer than that? Do I need to bring his medical kit? Did I refill it? Will he be in any stressful situations — anything that includes physical activity, air travel, taking a test, hot weather, sitting in cold water — where he'll need more cornstarch than usual?

Between those hours, there are other concerns to worry about — from his speech delay to deciding whether to eat an apple in front of him, to sorting out how much to tell him and when. But those are luxurious questions — the ones involving how to live with being a zebra, because it means he's alive.

It sounds hyperbolic to say that these are life-and-death decisions, but our reality is living in a hyperbolic state. The weight of the choices and consequences take a toll, on relationships, on finances, on mental health. Many of these issues are not unlike what all parents feel as they weigh decisions for their child. But our mistakes have heightened consequences.

I don't think any of us want a pity party or a free pass to cut corners. But I hope awareness can encourage compassion — something that doesn't need to be rare.

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Courtnay Peifer is senior wire editor at the Star Tribune.