#WeAreNotWaiting: Patients use DIY hacks to get the health solutions they need

This article originally appeared in Genome in April 2018.

“It was a waking nightmare,” says John Costik of the days and weeks after his son, Evan, then 4 years old, was diagnosed with type 1 diabetes in 2012. “A 4-year-old child, who can’t [manage] any of this for himself, has an incurable, life-threatening disease,” says Costik, a software engineer in Livonia, New York. “I had all these hopes and dreams for him. I didn’t want his life changing.”

But Evan’s life would change. People with type 1 diabetes don’t produce insulin, the hormone that breaks down sugar. Based on the devices available in 2012, Evan’s parents knew that once he was old enough, he’d have to monitor his blood sugar constantly for the rest of his life. To regulate it, he’d administer insulin several times a day through a pump or a self-injection. Self-administration of insulin is a risky proposition. Give yourself too little and health complications arise over time; give yourself too much and you could die. Continue reading

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Opioids: A crisis decades in the making

This article originally appeared on WebMD.com in March 2017.

In 1980, Jane Porter and Hershel Jick published in a prominent medical journal the results of their study of pain among hospital patients.These simple words about patients who took opioids would be used — and misused – for decades:

“We conclude,” the doctors wrote in a letter to the editor, “that despite widespread use of narcotic drugs in hospitals, the development of addiction is rare in medical patients with no history of addiction.”

Nearly four decades later, Jick said he regrets that he and Porter ever published their work. But they are hardly to blame for what would come.

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Beyond opioids: The future of pain management

This article originally appeared on WebMD.com in March 2018.

Cindi Scheib wanted to die.

A three-day weekend spent jumping and dancing on Labor Day 2014 had left her with a neck injury – specifically the cervical spine – that was possibly an exacerbation of an unrecognized mountain biking injury earlier that year. To make matters worse, her doctor performed the surgery to fix the injury on the wrong part of her spine.

Now 54, Scheib has lived with constant neck pain and other unusual sensations throughout her body ever since. These sensations, including electrical shocks down her spine, buzzing, vibrating, burning sensations, ringing in her ears and sensitivity to normal noises, had gotten so bad, she said, that “I wanted to go to bed and not wake up tomorrow. This life was so bad, so horrible, that I couldn’t imagine how I was going to live the rest of whatever life I had,” says the Harrisburg, PA, nurse. Continue reading

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Modern family planning: Expanded carrier screening allows couples to test for hundreds of disorders before conception

This article originally appeared in Genome in October 2017.

Kerri Breslin had just turned 30; she and her husband, David, were ready to start their family. Both in great health, the Los Angeles-based couple didn’t expect to have any trouble getting pregnant. Breslin stopped taking birth control pills and, just for safe measure, paid a visit to her gynecologist.

Given Breslin’s ethnic background — half Irish and half Ashkenazi Jewish — her doctor recommended that she pursue carrier screening for roughly 100 genetic diseases, some of which are more common among people of Ashkenazi Jewish heritage, others more common among the Irish. Because these are recessive conditions, the doctor explained, carrier status is only a risk factor — a far cry from a high likelihood of having an affected child. Carrier mutations for most autosomal recessive conditions (those not related to the sex chromosomes) are only a concern if both the prospective mother and father are carriers for the same condition. This was highly unlikely, Breslin thought, since her Puerto Rican husband was neither Jewish nor Irish. In the unlikely event that the two were carrying gene mutations for the same condition, however, they’d have a one in four chance of conceiving a child with that condition. Continue reading

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Defying the data: Patient advocates push FDA to clear questionable drug

This article originally appeared in Genome in July 2017.

In the winter of 2005, Terri Ellsworth arrived at her son Billy’s preschool in a Pittsburgh suburb for her first parent-teacher conference. She was eager to hear how her only son, a little over 4 years old, was faring. The teachers regaled Ellsworth with anecdotes. Billy was smart; he liked difficult puzzles, music, and socializing, they said. They spread a folder of artwork and Polaroids of Billy having fun before her. But, the preschool director added in closing, there was just one thing. Billy was behind the other children in his physical abilities. In both his fine motor skills — using a fork or scissors — and his gross motor skills — running, jumping, and climbing — Billy lagged the other kids. Ellsworth had noticed it herself. Billy had been a late walker and had a lot of trouble climbing stairs. Ellsworth thought her son just lacked coordination. The preschool director, with her years of experience in early childhood development, suggested that Terri have Billy checked out.

The next four months led Ellsworth and her son to the pediatrician, physical therapists, and ultimately a neurologist who confirmed what Ellsworth and her husband — with the help of Google — had come to fear. Billy had Duchenne muscular dystrophy, a rare muscle-wasting disease that affects about one in 3,600 boys. In this form of muscular dystrophy, lack of the protein dystrophin, whose job is to hold muscle cells together, causes muscles to deteriorate. Boys and the occasional girl, typically diagnosed between the ages of 3 and 5, end up in a wheelchair by their early teens. Soon they require breathing assistance; they die in early adulthood. Continue reading

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Road to recovery: Personalized treatments and technology are helping people free themselves from opioid addiction

This article originally appeared in Genome in July 2017.

In 1998, Rose Palinkas was finally clean. Using heroin recreationally as a twentysomething in the 1980s had spiraled into a lifelong addiction. It cost her three children. She spent years living on the street and never had a career or a stable home. She had spent almost 20 years dependent on heroin or the prescription medications, like methadone, that doctors use to wean people off heroin.

But at 42 years old, on methadone for the second time, she checked into a hospital and asked them to get her off it, too. “I started meeting nice people and doing the right thing,” she says. “I was making money, working out, and I felt good about myself.”

Palinkas loved riding her bike along the beach in Broward County, Florida. Clean for about a year, she was biking along the coast one afternoon, when an 18-wheeler almost killed her. The truck — its driver asleep behind the wheel — crushed her lower spine and sciatic nerve. The pain was unbearable. Anyone in her condition would have received a prescription opioid as soon as he or she arrived at the hospital. “Doctors are very fast to write you that prescription,” she says, “but when you’re a recovering addict, you can’t go on painkillers,” though, people sometimes do. Continue reading

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Discovery mission: Uncovering the genetic causes of epilepsy

This article originally appeared in Genome in March 2017.

Like most two-and-a-half-year-olds, Savannah Salazar could count to three. She knew a handful of colors and was becoming conversant with the subjects of dogs, cats, bikes, cars, and buses. She was potty-trained, and she loved to page through books and put together puzzles. She was on the right track for a toddler, hitting all the big milestones.

When Savannah’s parents, Ruben Salazar and Tracy Dixon-Salazar, put her to bed one night in 1995, they had no reason to believe she wouldn’t keep hitting milestones. Then they awoke in the middle of the night to the sound of their daughter choking. They rushed to her bedroom and watched in horror as Savannah’s limbs stiffened and trembled — her face white, her lips blue, bubbles of saliva at the corners of her mouth.

“I have no words to describe the terror of that moment,” says Dixon-Salazar. Continue reading

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New routine: Should all women be screened for BRCA?

This article appeared in Genome in January 2018.

At a routine eye appointment at a Geisinger ophthalmology clinic in Coal Township, Pennsylvania, Patrice Molesevich was invited to participate in a study. By contributing two extra tablespoons of blood whenever her doctor ordered bloodwork, she could help Geisinger researchers explore and understand human genetic variation and discover new disease-causing and disease-preventing genes, as well as new targets for future drug development.

The MyCode Community Health Initiative is Geisinger’s system-wide biobanking program that stores patients’ blood and other samples and links them to electronic health record data for research use. To date, more than 170,000 patients have signed up.

“I told them I’d love to participate. If it can help somebody down the road, that’d be great,” Molesevich, now 58, recalls. She never expected that the “somebody” would be her.

MyCode’s objective is research, but when researchers find that an individual has a gene mutation known to cause harm, they notify the person. In March 2016 — about a year after she had joined and all but forgotten about MyCode — Molesevich got a phone call from a genetic counselor who told her that she carried a BRCA2 gene variant that significantly increases breast-cancer risk. Continue reading

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Carrying a lonely diagnosis: Pregnancy can lead to a rare cancer known as gestational trophoblastic neoplasia

This article appeared in CURE in March 2018.

In September 2013, Cindy Lupica, then 37 years old, gave birth to a healthy baby girl. The scene was dramatic, much like Lupica feared it would be. She delivered at 39 weeks in the ambulance on the way to the hospital. Her rural, Mojave Desert home near Apple Valley, California, is a half hour from the nearest hospital.

When Lupica started having contractions at 25 weeks, she began to worry that the birth would be quick and she wouldn’t make it to the hospital. With her three previous pregnancies, Lupica hadn’t experienced contractions so early on. But she had two normal ultrasounds, and her doctor wasn’t terribly concerned. “He asked if I was exercising and told me to maybe cut back a little,” Lupica recalls.

For six weeks after her daughter’s birth, Lupica bled. Again, that hadn’t happened with her other pregnancies, but again, her doctor was not alarmed. He suggested it was caused by hormones because this time, she was an older mom. Finally, the bleeding stopped, followed by intermittent spotting — until one night in late January, she began to hemorrhage.
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Dial M for medicine: The smartphone is revolutionizing the ways patients engage with doctors and manage their health

This article appeared in Genome in September 2016.

During her freshman year at Muhlenberg College in Allentown, Pennsylvania, Isabella San Miguel woke to pounding on her dorm-room door. She bolted upright in her bed and instantly felt the unmistakable dizziness of low blood sugar. Before she got up to answer the door, she reached for the juice box tucked into a pocket in her bedsheets. The sheets are made to hold TV controllers, but San Miguel uses them to stow a juice box and her iPhone, which pings when her blood sugar starts to drop. This time, she slept right through the pinging when her sugar fell to 80. When it fell to 65, pings went out to both San Miguel and her mother, who was fast asleep in San Juan, Puerto Rico.

“When my mom called me, I still didn’t wake up, so she called Campus Safety.” That’s because sleeping through hypoglycemia can be life-threatening. “They came over and knocked on my door,” recalls San Miguel, now a sophomore. “When I heard the knocking, I immediately knew that my blood sugar was low. I answered the door with the juice box in hand.” Once the officer confirmed that San Miguel was all right, he bid her good night, and she went back to bed.

San Miguel, diagnosed with type 1 diabetes when she was 4 years old, wears a continuous glucose monitor (CGM). The tiny needle of an electrode measures glucose levels in fluid just under her skin. The sensor sends readings to her iPhone and Apple Watch. “I can see my blood sugar as easily as flicking my wrist,” she says. “Knowing your blood sugar every five minutes takes so much off your shoulders. It makes decisions like insulin and carb-counting a lot easier. And now that it’s on my phone, and not a separate monitor, when I walk out the door, all I need is my phone, just like everybody else.”

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