A patient’s odyssey: the challenges of living with a rare disease in Peru
Diagnoses that arrive after years of no answers, a drastic impact on work and economy, and the obligation of migrating to Lima to survive illness. These are some of the main difficulties that people living with rare diseases in Peru must endure. Part of the crew of La Encerrona, in coordination with Somos Periodismo and the collective Los Pacientes Importan, along with the support of the NPF travelled across the country to collect the stories of these citizens demanding better care from the Peruvian government.
When she first heard the preliminary diagnosis from the doctor, Marki’s world fell apart. It was mid 2012 and Sofie, her daughter, had spent the first months of her life with frequent coughing and difficulty to gain weight. The absence of specialists in Chepén, a city located in the northern region of La Libertad where both lived, had forced Marki to travel for over 45 miles with her baby to receive medical attention at Almanzor Hospital, in the neighboring region of Lambayeque. Based on his experience with other patients, the pediatrician of that health center had a suspicion Sofie suffered from cystic fibrosis.
The first sign of this disease showed up hours after Sofie’s birth. As Marki recovered from her C-section, her sister noticed how the baby’s face turned purple and ran for the doctors. Sofie was born on May 13th, 2012, a month prior to the Peruvian Congress declaring the screening of cystic fibrosis in newborns a matter of national interest, although the first diagnoses were not conducted until eight years later. The 169 cases of this disease in babies which, up until now, have been identified by the Peruvian government were not detected until 2020.
Cystic fibrosis is classified as a rare disease due to its low prevalence, meaning the number of cases in the population is low. Although its incidence in Peru is still unknown, in Europe there is a case for every ten thousand people. This condition affects multiple organs, as body discharge becomes abnormally thick, which causes inflammation, obstruction and infections in vital areas of the body, such as the pancreas and lungs, according to the National Rare Disease Organization of the United States of America. The National Health Institute of that country adds that cystic fibrosis causes symptoms such as salty perspiration, a persistent cough and difficulty to breathe, growth deficit and malnourishment.
Sofie received her official diagnosis when she was fifteen months old. From that moment on, Marki and her daughter travelled by land on a regular basis to Almanzor Hospital in Lambayeque. Nevertheless, since she was four and due to the scarcity of dornase alfa, a medication used in nebulization, Sofie’s care was derived to Rebagliati Hospital, in Lima. Since Chepén doesn’t have an airport, they both travelled to Lambayeque by bus quarterly. Here, they would take a one-hour flight with their airfare covered by Health Social Insurance (EsSalud). As time went by, trips to the capital became more frequent.
At Rebagliati Hospital, Marki installed an inflatable mattress to sleep next to her daughter, who she used to gift with balloons. Sometimes, she would even sneak in some fried chicken from KFC. Before every meal, Sofie had to take pancreatin, a supplement that made up for the pancreatic failure derived from cystic fibrosis. Her treatment also consisted of daily nebulization, around seven punctures a day to check her insulin levels and, during the last stage of her disease, the insertion of a chest tube to drain her lungs. Sofie’s hospitalisations were over a month long, as told by her mother.
Sofie and her mom’s hopes were deposited in the “triple therapy”: a combination of drugs sold by Vertex, an American lab, under the name of Trikafta and has been approved approved for the treatment of cystic fibrosis in countries like The United States and Canada. In Latin America, the Argentinian lab Gador manufactures this treatment under the name of Trixacar. The application of this triple therapy for cystic fibrosis in other countries has resulted in drasctic improvements in patients. However, as of yet, patients of the national public health system in Peru have not received this medication. “Sofie used to say ‘Mommy, I think God can’t hear me’ because she was not being administered the triple therapy,” Marki recalls.
Sofie’s condition worsened little by little and hospitalizations became more frequent. Both mother and daughter talked about saying goodbye. Marki remembers Sofie approached her one day and asked her to never forget she would always love her. “I feel that was my daughter’s way of saying goodbye.” Sofie passed away at ten years old on September 28th, 2022, in the Intensive Care Unit (ICU) at Almanzor Hospital. Her body was buried in Chepén. “I was afraid this would happen. Seeing how my daughter’s life went out like a candle, little by little,” Marki admits.
Sofie’s case is representative of the thousands of patients in Peru living with cystic fibrosis or any other of the 500+ rare diseases recognized by the Peruvian government. Part of the crew of La Encerrona, with the support of The National Press Foundation (NPF) and the website Somos Periodismo, travelled to the coastal regions of La Libertad and Lambayeque in the northside of the country, as well as Ica in the south and the highland area of Junín to talk with people who suffer from different rare diseases, all teamed up in the collective Los Pacientes Importan. Their stories reflect the crisis these citizens must face.
A diagnosis odyssey
Across from Valentino’s house, little more than three feet away from the entrance, the Peruvian government is building the first hospital in Chupaca, a city located 9842 feet above sea level in Junín, a region of the Peruvian highlands. His parents, Patricia and Gerardo, explain that, unfortunately, Valentino won’t be able to receive medical attention in this health center due to a lack of specialists in cystic fibrosis in their city. Instead of crossing the street, his family will have to keep getting on buses to Lima every two months, for an eight-hour trip through 265 miles of road to treat his rare disease.
Arriving at Valentino’s diagnosis was not easy. With early symptoms, which showed up shortly after his birth, Patricia and Gerardo sought help from different doctors in Junín, not one of them being able to explain the respiratory complications and low weight of their child. Once, a nurse even shouted and accused Patricia of neglecting Valentino, she recalls. With no answers in sight, both parents recurred to alternative methods: on three consecutive Saturdays, for example, they covered their six-month-old baby in black ram’s blood that they got in the animal fair of Chupaca.
“We were told he had ‘chacho’, ‘malaire’ (bad breeze), that a tree had sucked out his energy,” Gerardo remembers. On a different occasion, they took Valentino to “Los Angelitos Sanadores” (Healing Little Angels), a dark room where you can only hear the sound of wings flapping. The family also tried a magnet treatment that allegedly stabilizes body energy. “We’ve done everything in the search for answers,” Patricia explains. It was not until May 2017, a year after his birth, that Valentino was diagnosed in Lima. “The doctor said ‘your child has fibrosis and there is no solution. He’s going to die.”
The “diagnosis odyssey” is a term that describes how hard it is to identify a rare disease due to a lack of specialists and a scarcity of public resources. On average, a patient has to go through seventeen doctors and wait for ten years before reaching a diagnosis in Latin America, as explained by Claudia Gonzaga, researcher at the Mexican Network for Rare Diseases, at an NPF event in October of last year. In its Universal Screening Law, the Peruvian government acknowledges these difficulties. However, this norm only contemplates screening for six out of thousands of rare diseases.
Cystic fibrosis is, precisely, one of the six rare diseases included in the Universal Screening Law, which has had regulations for its implementation since 2013. Although Valentino was born in September 2015, this screening wasn’t applied to him. His cystic fibrosis was detected by a private practice through a sweat test, which measures the amount of chloride in the body and was worth S/250 (two hundred and fifty soles, around seventy-eight dollars). Today, his family is part of the FIQUI, a collective of patients with cystic fibrosis in Peru that protects the rights of and that, by September of last year, counted 93 members in total. During the making of this report, however, Sofie, a four-year-old child and an eighteen-year-old woman passed away.
The same diagnosis odyssey is endured by Harold, although with a different rare disease. Raised in Lambayeque since he was six, and with a family dedicated to tourism, Harold was passionate about travelling. Four years ago, however, he started experiencing pain in his joints and lumps started appearing in his knuckles and hips. One of the first doctors that saw him at Almanzor Hospital said he was crazy and told him to go to a psychiatrist, as he would complain about everything. “My joints hurt even when I tried to move my neck. You have no idea of how hard it’s been to receive a diagnosis,” he explains.
In his odyssey to find answers, Harold claims to have visited up to eight different doctors in public and private health centers, among neurosurgeons, rheumatologists and internists. “They would all blame each other. That’s what it was,” he shares. At one point, doctors thought he had multiple sclerosis or a bacterial infection in his spinal cord, but both suspicions were eventually discarded. “There is a lot of ignorance around rare diseases when it comes to providing [patients] with an accurate, suitable diagnosis and treating them in a timely manner instead of waiting for such a long time, the way I did,” Harold thinks.
Finally, in 2019, a different doctor at Almanzor Hospital diagnosed Harold with ankylosing spondylitis. “They gave me a diagnosis…but a hesitant one,” Harold admits. To identify ankylosing spondylitis, different clinical manifestations that cause this disease are evaluated. The criteria established by the International Society of Spondyloarthritis are the most commonly used and include MRIs, as well as X-ray tests. Through EsSalud, the insurance to which Harold is affiliated independently, Harold went through several of these tests with no answers being found promptly.
According to the Spondylitis Association of America, this disease is a form of arthritis that appears before the age of forty-five and causes inflammation, as well as pain in the column and hips. In some cases, it can be the cause for spinal fusion, reducing mobility and leaving patients with a disability. Now forty, Harold relies on a cane to walk. “I used to love dancing to electronic music, jogging and cycling, but I can’t do that anymore,” he acknowledges. Over time, loss of feeling and involuntary leg spams, as well as urinary incontinence were added to his initial symptoms.
In October 2022, when Harold shared his testimony for this report, he was hospitalized at Almanzor Hospital due to his symptoms. His stay at the hospital was about a month long and different tests were performed on him. “They punctured me every single day to draw blood, inserted catheters through my nose to drain gastric fluid and performed a spinal tap to take a sample of spinal fluid.” By November, he was back home, where he lives with his mother and stepfather. He hopes his disease doesn’t worsen, as he would like to avoid using a wheelchair and is currently in the search for a job adapted to his condition.
Working while having a rare disease
What’s the life of a person with a rare disease like? Pretty hard, since not only do you have to deal with physical pain, but even bullying when looking for a job,” Harold explains from his home in Chiclayo, the capital of Lambayeque. His first attempt at finding a job since receiving his diagnosis was an in-person position at a call center. Although they had already confirmed he would be hired, the company stopped returning his messages and calls after letting them know he used a cane due to his ankylosing spondylitis. “It’s really hard to get a job as a person living with a disability,” he adds.
Over 920 miles away from Harold, in the Ica region, a city built in the middle of the desert of the southern Peruvian coast, lives José, a fifty-one-year-old man who also lives at his parents’ house.
On top of a piece of furniture lies a framed picture, discolored by the pass of time, where a very young José appears wearing the uniform of Alianza Lima, a Peruvian soccer team, and a ball right next to his foot. The ball is so big and José so little that it reaches his knee. Five decades later, José needs a walking frame to move around and, even so, with difficulty.
Up until a few years ago, his life was completely different. As an engineer for an important electricity company, José’s salary was enough for him to move out of Ica and relocate to San Borja, an affluent district in the city of Lima. By late 2014, however, he started feeling “a tingling” in his body that, little by little, weakened his legs. It wasn’t until 2019 that the National Institute for Neurological Diseases diagnosed him with multiple sclerosis, a rare disease with no known origin, that causes vision problems and difficulties to walk and talk.
Multiple sclerosis forced José to abandon Lima and return to his parents’ house. He also had to quit his job. “I let my boss know that I had had an accident, but did not insist. Besides, I didn’t want for anyone to see me like this,” he explains. Since receiving his diagnosis, José got a job at a government entity three different times; however, once again, the disease pushed him to leave work: “I had to quit all three times because I can’t walk.” In 2019, for instance, he worked at an office in Arequipa for the same public entity, but had to vacate his position as the muscles in his legs became inflamed.
Difficulties to get or keep a job are common among patients with rare diseases, a situation that is aggravated by the high costs of many required treatments, which the public health system does not always cover. In 2020, the plan to care for rare diseases of the MINSA (Ministry of Health)l Plan para atender las enfermedades raras del Minsa acknowledged that “there are still difficulties in the assistance for treatments that are considered to be of high cost” since, amongst other reasons, government entities lack budget availability. This problem does not only have an impact on the patient, but on their caregivers as well.
For example, Mathews’s parents, Almendra and Augusto, both had to quit their jobs at different points in time. This family also lives in Ica, in the so-called Orongo village, located twenty minutes away from the main square of the city by car. Mathews is four years old, although “he had a difficult story since he was born,” his parents explain. Two hours after his birth, on August 17th, 2018, Mathews had to be taken to the ICU due to a respiratory complication. A week and a half later, the baby choked while being fed.
On top of this, an uncontrollable cry came as Mathew’s response to a gastric issue with no apparent cause. At night, Almendra and Augusto’s child would only sleep sitting up due to a sleep disorder and, by the time he was four months old, his muscle tone was affected. Being faced with this situation, Almendra had to quit her job as an economist in a telecommunications company to look after her son. “I can’t work. It’s impossible for me,” Almendra says, who tried working from home using a laptop only once, a task she abandoned after Mathews had a domestic accident.
In the beginning, Augusto’s insurance as an electronic technician for a private company covered Mathews care at Rebagliati Hospital, located in Lima, a six-hour drive away from their home. Given the difficulties to receive a diagnosis, the family went to Hospital del Niño, where care is covered by the Integral Health Insurance (SIS), a different public insurance system. Mathews’s father had to vacate his position so as to have his EsSalud insurance cancelled and be able to register in the SIS. This way, in July 2021, Hospital del Niño was able to diagnose Mathews with Williams Syndrome through a test that would have cost around S/4000 (four thousand soles, approximately a thousand dollars) without SIS coverage.
Williams Syndrome is a genetic condition that affects different parts of the body. In Mathews’s case, cardiovascular problems and chronic constipation have been detected in addition to complications in his kidneys, hypothyroidism and speech difficulties. Since he was diagnosed, Mathews had had to travel to Lima on a regular basis for his treatment. “The trip involves a lot of expenses, among stay, food, and, at times, tests the insurance does not cover,” Almendra says. Moreover, half of Augusto’s salary is used to pay off debts they have accrued in order to finance Mathews’s treatment.
Forced migration as a condition to live
Due to a lack of specialized pediatricians in Ica, Almendra and her child had to keep travelling to Lima even during the COVID-19 pandemic, when moving across regions was prohibited. At dawn, they would both get inside informal cabs to travel 186 miles to Lima through a dark road so as not to miss Mathews’s appointments. “We would like for everything not to be in Lima, that health is decentralized,” Almendra says. Augusto admits that, in the event that his son’s condition worsens, they will have to relocate to the capital city permanently.
Almendra directs the Peruvian Association for Williams Syndrome, which hosts thirty-three families. Out of these, eighteen do not reside in Lima. This situation repeats itself among different collectives of patients with rare diseases. According to official information provided by the Ministry of Health (MINSA) for this report, 54% of cases of rare diseases in Peru are located in regions different from the capital. “If my son were to have a renal or cardiac emergency, which can be fulminating, we won’t have enough time to make it to Lima,” Mathews’s mother explains. She adds that “we need to have specialists in every single region [of the country].”
John’s case is similar, a young 21-year-old man, from the high-Andean area of Junín, who spent last Christmas away from his family as he was hospitalized at Rebagliati Hospital in Lima. When he was twelve, John received his cystic fibrosis diagnosis, after living his early years with respiratory difficulties and having had incorrect diagnoses, such as asthma, pneumonia and even tuberculosis. His disease and a lack of specialized doctors in Junín forced him to be hospitalized in this health center in the capital of the country three times a year. “I failed my senior year of high school because I was hospitalized in Lima,” he recalls.
John lives with his mother and two siblings in the city of Huancayo, Junín, 10498 feet above sea level. When he has to be hospitalized or receive medical attention in Lima, John has to get on a bus that travels 264 miles and reaches the heights of Ticlio, a mountain range in the Peruvian highlands located 16404 feet above sea level, prior to descending to the capital of the country. Starting a few years ago, however, his disease has reduced his lung capacity to 30%, which means the height and little oxygen of Ticlio may put his life at risk. A two-way ticket between Huancayo and Lima can reach the cost of fifty dollars, which exceeds his family’s budget.
“Lima’s weather and oxygen levels improve his quality of life. His nails are no longer purple,” his mom says. Due to his disease and the lack of oxygen derived from Junín’s altitude, doctors have already told John he must relocate to the capital. “We don’t have the economic means to rent a room,” she adds. In January, John went back to Huancayo from Lima after being hospitalized, although a snowfall had his bus stop for four hours in Ticlio and made it back home decompensated due to the lack of oxygen in the area.
For her part, Alicia is one of the few patients that has managed to migrate to Lima permanently, although not without making sacrifices. She is a native of Ayacucho, a region that is also located in the Peruvian highlands, over 8858 feet above sea level. In February 2012, her symptoms started showing up: “I would walk for two blocks and felt my heart was about to come out of my mouth,” she recalls. Sudden fatigue was followed by fainting spells and an accelerated heart rate when performing simple tasks, such as going up stairs. In Lima, Alicia received her definite diagnosis in October 2014: pulmonary arterial hypertension.
Due to high tension in her pulmonary artery, this disease causes trouble breathing, dizziness, edemas in the legs, chest pain and tachycardia. In 2014, doctors performed a catheterization in Alicia, which kept her in the ICU for three days. Following her procedure, the health staff told her she could not go back to Ayacucho due to the risk of suffering from pulmonary hypertension and living in the highlands. “I had to come with my family. My husband quit his job and our children had to change schools,” Alicia shares. She also had to leave her position as an accountant and now receives a pension for being incapacitated to work.
Her mornings in Lima alternate between getting her children ready for school and taking her medications. One of these is Iloprost. As she explains it, each box of this drug is 700 dollars and the government does not supply it as part of patient care. She, alongside other patients with the same disease, all teamed up in the collective called Llapan Kallpa, have access to this medication as a donation from abroad. “Sometimes we have to smuggle this medication, since Customs agents tend to seize it and we have brought up this issue in meetings with authorities: “You do not provide us with this medication and won’t allow us to import it either,” she explains.
Moving has allowed Alicia to breathe better, although her family has yet to get used to living in the capital. Last time she visited Ayacucho was before the COVID-19 outbreak. On November 8th 2022 the National Cardiovascular Institute confirmed her disease is at an advanced stage and have proposed her a new, very invasive course of treatment. “I am privileged for having a supportive family and friends, but that is not the case for most patients. Most of their lives are quite different,” Alicia claims as she leaves her home to face, as she has done every day for the past seven years, the capital of her country.
Translation: Ana Paola Yamada
Ernesto Cabral is a reporter graduated from the journalism program at PUCP. His work is focused on politics, organized crime, money laundering and human rights. He has received several accolades, which include the Sigma Awards (2020) and being a finalist in the Journalistic Excellence Awards by the Inter American Press Society (2018 and 2019), as well as the Gabo Award by the Gabriel García Márquez Foundation (2021).
Leslie Moreno Custodio is a journalist and photographer. She reports on issues connected with social justice, environment and identity. Her audiovisual production explores subjects from an ethnographic and documental perspective. She has been published in national and international media, such as El País, Ojo Público and Diálogo Chino. She is currently pursuing a master’s degree in Visual Anthropology at PUCP.