ST. MARYS — Today is Rare Disease Day and this year, one local family is committed to ending the isolation that comes with having a rare disease by speaking out about their experiences and the ways technology has changed how those with rare diseases interact with the community.
When Cheryl Harr saw her son Jared — a student at St. Marys Intermediate School — on his bed moaning and unable to move last December, it wasn’t fear of the unknown that gripped her.
“I was horrified,” Harr said. “It was a punch in the stomach.”
Harr knew exactly what was happening to her son because she’d experienced it before. Her son was suffering from paralysis caused by a rare genetic condition he’d inherited from her. A condition that was progressive and, so far, incurable.
“You think you’re dying,” Harr said. “You can hear everything around you, but you can’t talk or move.”
The disease both have is called Hypokalemic Periodic Paralysis (HKPP).
“The first time I was really scared,” Jared said. “I couldn’t speak. Then later I could whisper. You can feel everything.”
The parents rushed their son to the hospital, because the paralysis can be life threatening.
For weeks doctors struggled to get the exact dosage right for medication and to find Jared’s sodium and sugar thresholds while Jared had bouts of paralysis, full body or just in his legs, and heartbeat irregularity. Harr was undiagnosed until she was 35, after the birth of her son.
When Harr went to doctors post-paralysis, her symptoms subsided, so with everything looking fine, she was diagnosed as having panic attacks. After the birth of her son she was told stress caused her attacks. While the stress diagnosis didn’t ring true to her, she quit her job hoping to stave off the attacks.
When it didn’t, she focused her technical writing skills onto the health problem, starting to catalog all her symptoms. She switched between doctors. She was told her health problems were all in her head. She was diagnosed multiple times as doctors tried to find something that fit what was happening to her.
Harr noticed that some foods were triggers, a sundae, for example, hospitalized her. When a doctor finally saw a food-related cause to the problem, he asked for her lab tests from the previous five years. She brought him a binder the thickness of a Cincinnati phone book, her extensive record-keeping on her health.
The doctor also wanted to know, had anyone in her family ever died suddenly, seemingly without cause.
As it turned out, all previous diagnoses had been wrong; Harr had HKPP, a rare genetic disorder in which the body has a problem keeping potassium in balance when exposed to salt, sugar, starches, stress or cold. Now diagnosed, the amount of potassium Harr takes in a day could kill the average person.
After she had a name for what was happening to her, she could explore information and research online and find other people who struggled with the same condition, few though they were. Now Harr has a specialist in Philadelphia, and she’s found balance with strict diet and environmental controls that keep her safe, even as she deals with permanent muscle weakness and is unable to walk more than a few hundred feet at a time, a condition difficult for a former aerobics instructor.
“The most common thing is I want to get up, and I feel weak,” she said. “I want to move my body and can’t.”
Body temperature, stress and adrenaline affect the her and her son’s bodies’ ability to keep potassium balanced, so they can’t go outside when it’s cold.
They also have to be careful not to get sick, because throwing up can throw off potassium levels, and they might not keep down the medicine that keeps them from having life-threatening repercussions.
Harr and her husband hoped that their son would not have to deal with the difficulties she’d had, and if he did have symptoms, she assumed they wouldn’t start until later in life, the way hers did.
Instead, when she found him on his bed paralyzed, she knew it was the beginning of a progressive disease that would last the rest of his life, unless someone finds a cure. The benefit of her having the disease, however, is that her son was diagnosed quickly which led to him becoming balanced more quickly.
Now that Jared’s condition is balanced, he can participate in most daily activities. He can bowl, for example, and he said he loves dodgeball.
“It’s not like he lives in a bubble,” Bill Harr said of his son.
In a time before research, people simply died, undiagnosed, of cardiac failure or respiratory problems. A sports rehabilitation physician told the family on rare occasions a child undiagnosed with the condition will simply fall over with cardiac failure on a playing field.
For Harr, the experience of living with a rare disease taught her to take responsibility for her and her son’s health. She became her own advocate, questioning more and being less likely to trust a quick first diagnosis. She became an amateur expert on her health, including staying up on what kind of treatments are coming out of other parts of the world.
People who see Harr during the day would think she is fine. When she uses a handicap space, people question her. On a recent shopping trip to Lowe’s, a heavyset gentlemen said to her, ‘I guess you just get tired of walking through the store.’ He couldn’t know that shopping trips in the past had left her in a public state of paralysis, collapsed on the floor of a store.
She said that while it may be annoying or make her angry, she turns those situations around.
“I turned that into an opportunity to talk about the disease,” she said.
And people in the community are listening to her and to Jared.
When Jared entered school this year, Harr educated his teachers about his condition, and he was able to attend his classes for part of the year. Now that it’s cold outside and flu season is raging, his pediatrician recommends he stay at home.
“The flu can be life threatening for him,” Harr said.
St. Marys Intermediate School not only provided him with a tutor, but now uses an iPad with an application called FaceTime. With FaceTime, Jared attends school with his peers. He dials in at 8:40 a.m. each school morning.
He sees everything he would see in class in real time, from the teacher’s lectures to talking to his peers. He can ask questions, and he’s included in group projects. He uses the iPad to talk to the group and they can see him, at his own desk in front of a window at home that looks over a horse pasture. His teacher sends worksheets home with a parent or through email.
The school nurse created an emergency plan for Jared’s condition and submitted it for review by his doctors.
When Jared was in school and having symptoms and feeling wobbly, Jared said he appreciated how a teacher waited outside her classroom watching every slow step he walked to the nurse’s office to make sure he got there safely.
Harr said she couldn’t be more thankful for what the school is doing.
“This is not the norm,” she said, adding that other people in support groups online complain of how inflexible school systems can be, with one district requiring a student to come to school in a wheelchair despite the cold and flu issues.
What worries Harr is that people with rare diseases may be out there with doctors who have quit looking, who didn’t keep an open mind about what could be affecting their patients. After a two minute consultation, doctors who didn’t know about Harr or her son’s genetic condition would take her husband aside and tell him he needed a psychiatric referral, saying that their problems were made up.
The problem with rare genetic conditions is also that, because they are so rare, doctors and pharmaceutical companies are less likely to research them — a cure will affect fewer patients and bring smaller revenues. Research funding is also cut, especially in the U.S., and doctors may not test a patient for a rare disease, instead diagnosing them with a completely different problem — maybe even a psychiatric one. Harr worries that someone out there is in a psychiatric facility, paralyzed but completely aware, trapped not just by their body but by a medical institution that wasn’t open to continuing the search for a problem that is only physical and can be managed to live a full and healthy life the way she and her son have done.
Since Rare Disease Day was first launched in 2008, more than 1,000 events have taken place throughout the world reaching hundreds of thousands of people. The day is intended to bring awareness to issues faced by those with rare diseases, according to RareDiseaseDay.org.
“That’s why we’re doing this,” Harr said.