A Lonely Diagnosis

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Understanding the Impact of Orphan Diseases

For parents, there is perhaps no more terrifying prospect than being helpless to protect their children. That is why early in child rearing the slightest sniffle can activate the darkest parts of the imagination—the fear that this illness is more than a common cold. As time goes on, and ear infection after fever after flu after stomach bug pass, a parent’s mental resilience builds up, a peace that germs and viruses can be overpowered by the advancement of modern medicine.

Reality
While percentages may be in a parent’s favor, the truth is that not every case is the same and not every solution simple.
About a year and a half ago, Susan Davidson, of Forest, noticed that her 11-year-old daughter, Lauren—the youngest of three children—continued complaining about pain in various places: her hip, her ankle, her elbow, her wrist. The pain would come and go—one day Lauren would be swimming competitively and another she would say that she couldn’t walk or break out in a high fever, which would disappear the next day.

“I just thought, she’s 11, she’s growing, it’s growing pains,” Davidson explained. “When you’ve had three children, and it is your youngest, you have seen everything you can imagine in that period of time. You get desensitized to things after a while.”

But in October of 2015 Lauren’s condition announced itself in force. Lauren’s ankle swelled to twice the size of the other one and was covered in a rash of red pin-dots. A trip to her physician turned up no more than a raised eyebrow—there appeared to be nothing wrong, no explanation for the symptoms. Four days later, Lauren broke out in a high fever.

“I assumed she had picked up something at the doctor’s office, so I was kicking myself for taking her,” Davidson said.

For a few days, Lauren was bedridden. She wouldn’t eat, would barely drink and would only crawl if necessary to use the restroom. Then, one evening, Lauren called for her mother in earnest.

“When I went upstairs,” Davidson recalled, “she was on her hands and knees and she was hovering over a pool of blood that she had coughed up.”

Through 16 years of parenting, Davidson had never witnessed anything like that before. She rushed Lauren to the doctor.

The Davidsons wouldn’t be there long.

“The nurse walked in, took one look at her, and said, ‘Oh honey…,’” Davidson said. After some quick tests the doctor had Lauren sent to University Hospital in Charlottesville.

Orphan
According to the National Institutes for Health (NIH), there are 7,000 rare diseases—commonly called orphan diseases—affecting more than 25 million Americans. A rare disease, by definition, is one that affects fewer than 200,000 people. The Food & Drug Administration (FDA) notes that some orphan conditions have patient population in the low hundreds and are relatively unknown, while others are more recognizable, such as cystic fibrosis, ALS (or Lou Gehrig’s disease) and Tourette’s syndrome.

Dr. Jennifer Charlton, Associate Professor in the Department of Pediatrics, Division of Nephrology, at the University of Virginia Children’s Hospital, added that “a lot of pediatric diseases are orphan diseases.”

Furthermore, even after a child gets a diagnosis, it is not necessarily as simple as applying what has worked for adults.

“The harder part of dealing within a rare disease is dealing with it within the context of a growing child,” Charlton said. “Although we may have good data on adults, there is always the question, ‘Does this apply to my pediatric patient?’ Most randomized control trials do not include pediatric patients. They have always been considered a ‘vulnerable population;’ there are a lot of different technical details that go into designing a trial to study a disease in a child that do not have to be considered for adults. Things like growth and development.”

Because orphan diseases do not have broad patient populations, it can be extremely difficult to organize pediatric trials for them. Charlton said the medical community, with support, needs to work toward setting up better infrastructure for collaborative trials across institutions.

Miracle
The NIH notes that rare diseases are often misdiagnosed and may not have effective treatment.

Just getting a diagnosis can take months or even years.

“Common things happen commonly,” Charlton said. Since rare diseases can “look, act and smell” like any number of things, physicians are going to test for the most likely diseases first.

She said that is the beauty of having tertiary centers—large hospitals with specialists that see referrals from primary and secondary care facilities.

“Many things can be taken care of in your local hospital,” Charlton said. “We do see (rare diseases) more often; we have it on our radar. It doesn’t mean we are better doctors, it is just that we have a different viewpoint.

“Community doctors work incredibly hard to provide excellent care of their patients,” she added.

“We have wonderful relationships with these physicians, and we support these relationships as best we can.”

When Lauren came in to UVA on Oct. 13, 2015, bleeding from numerous places and with extremely low hemoglobin levels, things could have gone any number of ways.

Fortunately for Lauren, the doctors were able to confirm a diagnosis more quickly than usual, due to their familiarity with her symptoms.
“The constellation of symptoms was suspicious for the diagnosis of vasculitis,” said Charlton, one of the physicians who saw Lauren that night.

A kidney biopsy and other blood tests were ordered to confirm the suspicion. Lauren was soon diagnosed with Granulomatosis with Polyangiitis (GPA), a condition that causes vasculitis, an inflammation of the blood vessels. In Lauren’s case, the lungs and kidneys especially.

“The fact that she got a diagnosis within 12 hours of admission is uncanny,” Davidson, who could have chosen to take Lauren to a different center, said. “It’s not a coincidence, I really believe it’s not.”

Charlton pointed out that Lauren’s example is extremely rare.

“These are diseases that take some time and observation,” Charlton said. “Even if Lauren had been seen at the University of Virginia at the same time that she had walked into her pediatrician’s office, we wouldn’t have magically said, ‘You have this diagnosis.’ It is the persistence of her family and her primary care doctor that contributed to the rapid diagnosis in Lauren’s case.”

Help
Getting the diagnosis was only the beginning.

The FDA notes that in many cases, families struggled alone as they coped with a rare disease.

Davidson recalls being warned not to Google the condition, which is called Wegner’s granulomatosis (a dated term) by many who struggle with it. Of course, she did and was not prepared to learn this “wasn’t something that will go away. It is lifelong, there is no cure.”
Lauren’s treatment has included blood transfusions, chemotherapy infusions and a regiment of a number of medications, including immunosuppressant drugs. Her condition is monitored closely; even if she gets a cough or fever it is taken seriously and her treatment assessed.

But through the darkness came some light. Through a friend of a friend on Facebook, the Davidsons were put in touch with a family in California also battling the disease. The power of social media connected them to an online support group of 20 families. Lauren was even able to meet a girl her age online who is battling the disease.

“Everything changed after that,” Davidson said. “It was a godsend—I don’t know that if this had happened in 1995 we would have been connected. We would have felt far more alone.”

Now 12, Lauren has had relapses but has also readjusted to life. She hasn’t gotten back into competitive swimming yet—mostly because she associates the atmosphere of indoor pools with the onset of her disease. Lauren has, however, been nurturing her creative interests with art.

While not everyone will suffer from a rare disease, anyone can help fight them. Awareness is key, as physicians may not even know to watch out for many of them.

More importantly, however, Charlton explained the need for better resources for the research community. Budgets and grants constantly are being cut. Electronic medical records are not being systematized or easily integrated outside of local networks. Initiatives to improve this need to happen, and people need to speak out.

“If the general public would stand up and say, ‘We need more research on these rare diseases,’ and support research and establish more infrastructure and ways to do it, those are the kind of things that make a difference.”


By Drew Menard

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