Getting ready to leave for school, Lucille eases her feet into low plastic braces—SMO braces–the kind that wrap around her foot and stick a couple of inches from the tops of her shoes. She pulls the Velcro tight, unzips her Billy shoes, places her braced feet inside them, and zips the shoes all the way around her braces. Then she teeters down the back steps, supporting herself on the railing. This is the new part of Lucille’s morning routine.
Lucille hasn’t been able to walk for nine months. Or at least she hasn’t been able to walk normally. When she is on her own feet, she dips and sways. She walks slowly—about one third as fast as other children her age. When the pain or the muscle weakness become too much, she sits in a wheelchair. On bad days, we carry her up and down stairs.
The braces have helped, so has putting her Gabapentin, a drug with an intense dosing schedule that works on nerve pain.
Lucille has been sick from two years. But the rare disease she has, a central giant cell granuloma tumor lodged in her jaw, cannot be the reason she has stopped being able to walk. So in the midst of Lucille’s battle with one rare disease, we are searching for another diagnosis.
For months, the general idea was that her drug therapy was somehow the culprit. Side-effects from Deonsumab had landed her in the hospital ten months ago, even as she’d been on drug holiday, with hypercalcemia and malnutrition. That’s when she stopped being able to walk. At first her doctors thought her muscles would return to normal as she recovered, but they didn’t.
So we took her to an orthopedic surgeon. We took her to a nephrologist. We took her to a neurologist. We took her to another orthopedic surgeon. We took her for an MRI of her spine. We took her to a geneticist. We took her to a physical medicine and rehabilitation specialist. We took her for labs and more labs.
Searching for a diagnosis is no easy thing, as anyone who has ever done it can tell you. When I read memoirs and essays written by patients—or the families of patients—trying to find a diagnosis, one theme sticks out, the solitude of it. A lot of people find themselves here, but we are always here alone. There are no support groups for patients with undiagnosed diseases. There is not one doctor who can manage a treatment plan. There isn’t a treatment plan to manage. There is a list of referrals, which lead to more referrals, a string of pleasant-enough physicians who shake their heads and send us on.
So far, all anyone has been able to offer us is an array of increasingly frightening possibilities—and the expensive tests and work-ups to go with them. The latest is Muscular Dystrophy. We’ve been living in the possibility of this new diagnosis since November. My husband, Chris, and I keep stumbling over the statistics. How could Lucille have another disease almost as rare as the first? Or maybe lightning is striking twice, and it’s striking our daughter.
Yesterday, her genetics panel came back normal for every known genetic mutation that causes muscular dystrophy or myopathy. Great news, but the normal results don’t rule out muscular dystrophy or another degenerative neuro-muscular disease. There are still plenty of dystrophies and myopathies that have unknown mutations, and Lucille’s history of hypercalcemia and malnutrition complicate the picture.
Each negative or normal test result seems only to lead to other possibilities. There must be a reason Lucille cannot walk—all the doctors agree about that. So each time we get good news from a test result, we exhale, only to draw another breath and start holding it again.
But searching for a diagnosis isn’t just lonely, it’s also uncomfortable, frustrating, and demoralizing. Friends ask “How is Lucille doing?” But the answers are often too complicated to give and sometimes lead to crying. When we do get good news, we want to say so, but the good news is only ever part of the situation. The possibility of another difficult diagnosis is still hanging around—like a ghost that is always, always staring back at you, when you know there shouldn’t be anyone else in the room.
Now, we are waiting for an appointment in Chapel Hill, a city three hours away that has pediatric neuromuscular neurologist who is willing to do an EMG (a nerve conduction test involving needles and electric shocks) under sedation.
When we took Lucille for her first biopsy over two years ago, we promised her we’d go with her anywhere the tumor took her disease took her. So as Lucille continues the treatment for her tumor, we are navigating her through the search for a diagnosis. Who knows how long we will travel, or what we will find when we arrive somewhere? All we can say for certain is that we will continue to go with Lucille wherever this leads.