Grace Alarcon-Isla is worried about her son. When Adam was diagnosed with relapsing polychondritis three years ago, at the age of 15, his rheumatologist had taken charge and coordinated his care using a multidisciplinary approach. However, that changed when he turned 18.
“Now he’s an adult,” Grace says, “and in Alberta, that means that he has to be in charge of his own care.” For a typical teenager, that responsibility would be a minor inconvenience, but given the complexity of Adam’s medical history, this transition will not be easy.
Growing up, Adam had health problems that were odd but reasonably explained by his doctors. When he complained that his eyes hurt but his vision tests were normal, they guessed that he was trying to emulate his friend, who’d just gotten a new pair of glasses. When he had trouble breathing despite playing outside every day, even in the sub-zero Alberta winters, they assumed it was asthma, which both his parents have. And when he had a case of what looked like hives, it disappeared after a dose or two of Prednisone, so it wasn’t a big concern.
However, when he was 15, Adam developed a lump on his ear that the family doctor couldn’t explain, so he referred Adam to four specialists: dermatology, surgery, oncology, and ENT. The first appointment was with the ENT, who pushed it back because he was out of town. “Well, thank goodness for that because he and his whole staff were at a rare disease conference,” says Grace.
“And as soon as the nurse practitioner saw Adam, she rushed out of the room and grabbed the doctor. At this point, I hadn’t even taken off my coat.”
For what she thought would be a routine visit to the doctor in Edmonton, Grace had driven eight hours from her home in Rainbow Lake. Now, the doctor was saying that her son needed to be admitted to the hospital as soon as possible. “You haven’t done any blood work,” Grace thought, “and you haven’t even touched him, but you’re telling me he has this type of disease?” Over the next five days, a stream of rheumatologists, cardiologists, respirologists, and urologists examined Adam.
To Grace, this attention seemed like overkill. “They probably were explaining what was going on, but between the jet lag and the chaos and having to organize my other three kids, it didn’t register,” she says. Eventually, Adam was discharged, but bouts of extreme pain would send him back to the emergency room. One time, he refused to let the medics in the ambulance touch him because he felt like “there was an electricity going through his body,” says Grace. Eventually, he had to be restrained and sedated.
To further complicate his treatment, Adam discovered that most painkillers give him crippling withdrawals, and now that he’s an adult, Grace worries how he’ll manage both his pain and the disease. “He’s had several experiences with adult emergency rooms where the doctor will not give him medication because he’s on 24, 25 different medications, and the doctor doesn’t know which one will be interfering,” she says. “Then you get another doctor saying, ‘You’re in the wrong hospital. We need to transfer you.’ And then you get another doctor who says, ‘I’ll just treat it with opioids because you’re in so much pain.’”
If Adam had another disease, Grace knows that he’s responsible enough and smart enough to manage his own care, but RP is different. “In rare disease, everyone’s guessing,” she says, “And Adam’s not a very verbal, vocal, and insistent person, like I am. When I go to a medical facility, I ask so many questions.” However, at the National Institute of Health, Grace doesn’t have to be so proactive.
Last year, to finally get confirmation of diagnosis and a treatment plan, Grace and Adam traveled to Washington, D.C., and Adam is scheduled to return every six months for follow-up evaluations. Eventually, Grace hopes that he’ll be able to make the trip on his own. “He’s very good at verbalizing what symptoms he has and how drugs react to him,” she says, “but sometimes he misses things that doctors tell him.”
Thanks to a grant from the Friends of Patients at NIH, the travel costs for Adam and his mom are fully covered, but unfortunately, he can’t always be at the NIH. So, while Grace prepares him to assume full responsibility for his care, she also continues to advocate for RP patients and families, including partnering with international RP networks and rare disease associations. However, until a cure is found, the next best thing is the NIH, where all of her son’s needs are taken care of — without him needing to ask.