“When I’m there, there’s a party,” Marlou says with a smile when asked to describe herself. “People are so serious when they talk about disease. Loosen up! Make a joke once in a while!”
At first glance, one might assume Marlou would be hard pressed to find something to joke about regarding illness. Marlou’s grandmother passed away from Fabry disease and her mother, sister and aunt are all Fabry affected. Along with enduring the painful, life threatening symptoms that go along with Fabry, they have also had to fight for their right to treatment in The Netherlands, where it has been believed that women are only carriers of the disease and are not affected by it. “They just give you pain medication,” explains Marlou’s mother, Erika, who is the Executive Secretary at Fabry Support & Informatie Groep Netherlands (FSIG). “Males [with Fabry] get disease-specific treatment (enzyme replacement therapy, ERT) right away, but as a woman you only get pain medication. Unless you’ve had multiple problems with your heart, kidneys, or brain—then you qualify for ERT.”
Both Erika and Marlou have been active in medical advocacy communities, Erika with Fabry International Female Initiative (FIFI), an organization that fights for women to get the same attention as men who are diagnosed with Fabry, and Marlou with the European Patients Forum (EPF), which focus’ on youth health care rights.
Knowing firsthand what it’s like to be a patient in a hospital provides Marlou with fresh eyes to see a future with better support and care. “It’s really scary to experience being in the hospital and not even the doctor knows what’s happening.” Despite her diagnosis, Marlou is still often treated only for her anxiety. “The doctors don’t know what’s happening to me, but ‘Here, have some medicine… Bye!’ It’s weird.”
Marlou attends conferences twice a year, and recently organized a seminar for people with diabetes who are unable to get jobs because of their condition. It is also easy to miss at first glance that Marlou — a spontaneous, creative, and outspoken 24 year-old — suffers a more severe case of Fabry than many women, including her mother and sister.
“When a day is okay, I can do anything. I can conquer the world. And when it’s not fine, I cannot even conquer the stairs. I’m feeling like a sack of potatoes that’s been thrown down. Can you imagine what a potato feels, all smashed up like that with his potato friends?” Even while talking about the difficulty of her condition, Marlou’s cheerful, joking nature is palpable.
Marlou refuses to let her illness keep her from enjoying her life, whether that’s strapping on her roller skates or swinging as high as she can in the swing in her front yard. “I’m not saying that Fabry isn’t serious, because it is,” she says. “But life doesn’t have to be terrible because you have an illness. You can make your life happy and fun without always thinking about illness.”
Los Angeles, CA
It’s 6:00 pm on a Friday afternoon and Natalie is in her office, working late in preparation for a legal trial next week. A successful employer-defense attorney, she enjoys her work and it keeps her busy. “I love being aggressive and fighting,” explains Natalie. This is an approach she knows all too well living with Fabry disease, a rare lysosomal disorder where an enzyme deficiency leads to the buildup of disease substrate globotriaosylceramide (GL-3) in vital organs.
Growing up in Yuma, Arizona, Natalie recalls a childhood where neuropathic pain was commonplace: each “episode” included burning sensations in her hands and feet. The sweltering days of desert heat amplified the pain; summertime temperatures in Yuma could top 120°F. As a result, she missed many days of school and could never participate in sports or physical education classes. “I never cared much about sports,” Natalie says. “So it was okay for me.”
Natalie’s family is quite familiar with Fabry. Her father, Raul, an indigenous Mexican-Californian, also lives with the disease. Her paternal grandmother succumbed to Fabry when Raul was just 13 years old, back when it was not well known and women were not considered affected by the disease. Raul was one of the first to participate in early clinical trials, granting him access to therapy.
Raul suffered from a stroke when he was 38 and lost some of his motor skills. “I think about my father’s stroke a lot now that I’m in my 30s. I’m getting to that age myself, and I have a stressful job.”
At the same time, Natalie’s parents instilled in her the belief that her condition did not make her a victim. “My mother has always been very supportive,” says Natalie, acknowledging that her mom acted as caregiver to both her and her father—not a small feat. In time, Fabry has become a unique father-daughter bond for Natalie and Raul. “We always reach out to each other when we are having a [pain] crisis or not feeling well,” she says. Raul also stays on top of Fabry-related research and talks to Natalie about her health and treatment options.
It took Natalie quite a while to tell her long-time boyfriend and now fiancé, Nardo, about her disease. He says, “We were friends for years before she told me anything about Fabry. I didn’t know. I can understand the difficulty of revealing something like that and then needing to explain it.”
A fellow lawyer, Nardo has become a supportive partner to Natalie. “Once I got to know her, I was able to learn about Fabry symptoms and to ask ‘What’s wrong?’” Together, the couple attended a patient conference held in San Diego. “That’s when it really hit home for me,” says Nardo. “There are issues associated with Fabry that she may not exhibit, but are things to look out for.” Nardo remains involved and travels with Natalie to the hospital for her disease management.
At home, Nardo helps calm Natalie after a hard day at work. “He’s the chill one,” she explains. “Sometimes when I’m hyper stressed from working long hours, I think about taking a step back, to do some yoga, and let off some steam.”
Natalie remains stoic in her determination not to let Fabry get in the way of fulfilling her goals. “It’s not the end of the world. I don’t let it break me.” Natalie strives to stay in the present. “Things can always get worse,” she relates. “So be thankful for where you are today and keep moving forward.”
On the weekends, Natalie often unwinds with Nardo. They love to go out and enjoy the incredible variety that living in a place like Los Angeles has to offer—fresh seafood, trendy restaurants, and diverse cuisine from all over the world. “We’re foodies,” says Natalie, with a shimmer in her eye. Together, they are able to lead a rich and full life, allowing the circumstances and complexities of Fabry to remain a side-dish, while they enjoy their entrée.
Vicki & Adriana
Ages 43, 18
Vicki, along with three out of her four daughters, live with Fabry Disease, a condition that has posed many physical and mental challenges to caring for her children and establishing a career. “I’ve tried to bring up my daughters to think that Fabry shouldn’t hold them back. Physically it might have its limitations,” Vicki explains from her home in the countryside of England’s eastern coast. “But don’t let that be a barrier… I never let it hold me back.”
Vicki and her older sister inherited Fabry from their father, who had been suffering for years from pain and illness that no one could fully explain then met an untimely death from renal failure. “By the time they made the diagnosis, it was too late. He died at 41,” Vicki says softly, “I was only six then.”
Despite the fact that the gene is X-chromosome linked, the belief at the time was that women were unlikely to develop symptoms of Fabry. “My sister and I were told by the doctors that we were carriers and not to worry,” says Vicki. “But I was quite often ill as a child and would have really bad pain in my hands, feet and lots of stomach problems too.” Although these are tell-tale symptoms of Fabry, she was never tested. Many years later as an adult, Vicki had to be persistent to even get the necessary blood tests for a diagnosis. “If I hadn’t pushed and pushed, it would’ve taken a lot longer to get a proper diagnosis.”
Adriana experienced symptoms much earlier than other members of her family. “You could tell,” says Adriana. “I was really skinny and really pale—always looked really ill, and always looked really tired and I couldn’t take part in any activities in school that involved physical movement, because I got so tired.”
Her twin sisters, Saskia and Kitty, have been luckier. While they have the disease, they have yet to show consistent symptoms, and thus aren’t on any form of medicine yet.
As the family looks towards the future, there are unmistakable signs of hope for overcoming this disease.
Yoshie and Sora
Ages 37 and 9
Sora climbs the steps of the slide with calculated confidence. He moves in an explosive burst, then pauses to catch his energy before taking the final steps to the top. Now standing on the platform, he smiles proudly out over the entire park—a king in his own backyard. Taking a deep breath, he glides down the aluminum-coated slide, rallying his might at the bottom to push himself up from his seated position. Even with the extra effort these actions require, his joy is palpable, and with each trip down the slide, his eagerness grows. When he finally tires, Sora returns to his mother’s side, who is seated on a bench at the far end of the park. Yoshie presents him with a large candy, in exchange for a kiss, and the two let out an identical laugh.
For the Saito family, Fabry disease is generational—knowingly affecting the past three generations. From her vantage point, Yoshie has seen the full spectrum of the condition. Her mother had Fabry when she was alive, she has Fabry, and now her son, Sora, is affected. With the difficulties of managing the painful symptoms of the x-linked recessive disorder, Yoshie and her family have risen to the challenges presented by Fabry and strived to maintain a much desired sense of normalcy.
Yoshie grew up without knowledge of her or her mother’s condition. Yoshie’s mother didn’t want her to feel different than her peers, but eventually, the level of physical discomfort became too remarkable to ignore. For years, Yoshie battled intense, neuropathic pain without an understanding of what was causing it. Things got markedly worse when she entered puberty. “When I was in fifth and sixth grade, I was in so much pain,” recalls Yoshie. “I came home from school every day crying. My mom said it was nothing. She didn’t tell me about the disease.”
In middle school, Yoshie struggled with physical activity. “We had to run laps,” she says. “It was so painful. No matter what I complained of, whether it was very hot or I complained of pain, she just told me that everyone is in pain. It was a growing pain. I had a feeling that there was something else.” To appease her questions and worries, Yoshie’s mother finally told her about Fabry when she was 16. “I learned to come to terms with my condition,” says Yoshie. “It took me a long time though.”
Yoshie started managing her own health as she grew older and eventually got married. Initially, she didn’t have a strong desire for children, but with time that shifted. The couple tried but had little luck conceiving, even with the support of IVF. “After trying for three years, I still couldn’t get pregnant,” says Yoshie. They decided to try one last time, with little hope it would work. “I was fed up with it. I was like, ‘This is the last time I get the treatment!’” Miraculously, that last IVF treatment worked, and Yoshie learned she was pregnant. Despite the technical nature of an IVF conception, Yoshie did not test for Fabry while she was pregnant. “I decided not to get [Sora] tested although I knew somehow that he would have Fabry,” she remembers.
Sora was born healthy, and Yoshie waited a year to get him genetically tested. “When I found out about his diagnosis, I had mixed feelings,” recalls Yoshie. “I was shocked, but I also felt like I had a comrade.” Their bond has persisted through the last eight years, and despite the chance of having another child with Fabry, Yoshie conceived again, giving birth to Alia, who is not Fabry affected, a few years later. Having two children has inspired Yoshie to learn more about her own health and take a more proactive stance on living with Fabry.
Unlike her mother, Yoshie was forthright in educating Sora about Fabry. “I explained his condition to him,” she says. “We have a children’s book about Fabry.” For Sora, this also means getting regular treatment, alongside his mother. Every-other Saturday, they make the two-hour trek from their home in Edogawa-ku, a part of eastern Tokyo, to Jikei Idai Hospital, near downtown. “We get our infusions at the same time,” says Yoshie, who has been receiving enzyme-replacement therapy (ERT) for the past 12 years. The interval between infusions helps Sora keep up with his schoolwork, an important priority, even for such a young boy. “He’s in elementary school now. If he misses a day, he will get behind,” she says.
After returning from the park, Sora completes his math homework with an enthusiasm that rivals his love for playtime. “He likes to study,” says Yoshie, “and recently, he has been fascinated with magnets and the creation of electricity.” One morning, Sora woke up early, before his parents, and got a needle from his mom’s sewing kit box, magnetized it, and tied a string to it. “According to him, when you scratch that with aluminium, the needle points north,” says Yoshie.
The consistent visits to the hospital have fostered a burgeoning interest in science and medicine for young Sora. “His dream is to work in the hospital where he gets his treatment,” says Yoshie, explaining the many sources of this aspiration. “He was born there, he gets his treatments there. I think at a job interview, he could proudly say, ‘I was born here and grew up here!’” One of Sora’s favorite books is a guide to human anatomy, which he reads regularly, especially the chapter about MRI scans—fascinated by the intricacies of the human body and the use of magnets in medicine.
These lighter moments are rejuvenating for Yoshie who continues to deal with pain in her arms and legs. On bad days, the pain extends to her head. Aside from the omnipresent physical challenges, Yoshie has also been coping with the loss of her mother—a result of cardiac complications related to Fabry—a couple years ago. As her mother’s heart weakened with age (and cardiomyopathy), surgeons installed a pacemaker. However, the operation did not go as planned, and she became bedridden. “There was bleeding from her blood vessel which created a pool of blood,” says Yoshie. The excess fluid around her pericardium (heart sac) greatly restricted her heart’s ability to pump blood. She soon fell unconscious and would never wake again.
Coping with her mother’s loss has given Yoshie more determination to stay on top of her and Sora’s health, regularly visiting a Fabry specialist. “For me, it is not my heart, but the kidneys that are my problem,” says Yoshie, explaining some of the renal challenges she faces. Despite the disease having a remarkably high prevalence in Japan compared to other nations, there are only certain physicians and institutions that are willing and able to assist people living with Fabry. This means that even routine healthcare, like visiting a dentist, or getting a checkup, can only be dealt with at a specialty hospital.
Yoshie describes how Sora promenades through the halls of the hospital, with a jovial gait, exuding his friendly demeanor. “All the medical staff, including the nurses and doctors, treat Sora as their friend,” says Yoshie. “Everybody knows Sora.” Sora will peer into each room with fascination, hoping to catch a glimpse of an MRI machine or another medical mystery. He closes his eyes, imagining himself the day that he is a doctor, or a technician, utilizing science and technology to alleviate illness and explore the complexities of the human body.
When the nurses prepare Sora for his infusion, he takes careful note of their exactitude and precision. Getting infusions was once a trying exercise for Sora, but with age, and improved understanding, his attitude has changed. “He doesn’t cry anymore,” says Yoshie. “He used to cry and I used to feel very sorry for him. But now I enjoy the communication between him and the staff.” Sora will quip and crack jokes while the nurses do their preliminary tests, lightening up the clinical scene. In a clownish manner, Sora laughs as he makes funny faces for the doctor, who often giggles back at him.
It is moments like these that Yoshie rejoices in her decision to tell Sora about Fabry— unmasking the mystery before it has a major impact on him. “There was a time I was very distressed thinking that I gave this condition to my child,” she reflects. “When I was feeling blue, I realized that there are a lot of people who are suffering in the world… Crying doesn’t solve anything. I chose to smile and keep smiling as much as I can.” Sora has taken a parallel strategy. “You know, smiling brings a good fortune, right,” says Yoshie. “This is my favorite saying.” The two hold each other close, laughing hard while trying to keep the candy in their mouth, savoring an afternoon together, mother and son.
Teruki (age 6) readies himself, calculating his approach before taking a shot on net. Guarding the goal is his older brother, Daichi (age 9), a friend at times, though more often a worthy opponent. The two have been provoking each other all morning and the intensity in Teruki’s stare says he’s about to settle it. With a dramatic windup, Teruki kicks hard—too hard—and the ball ricochets off a back wall before Daichi even has a moment to react. Just then, their oldest brother, Souto (age 11), appears and quickly takes control of the ball, dribbling around his younger siblings in a clear example of superior skill. Undeterred, Teruki runs off in search of their youngest brother, Tokiya (age 4), who is perfectly content playing non-competitively with toy trucks and animals.
A family with four boys is like a never ending circus: skateboarding, hanging upside down, arguing over snacks and lining up to ride on Dad’s shoulders. All day the brothers run like rascals through the park, climbing fearlessly up the trunks of trees and, laughing wildly—their gapped-toothed smiles flashing the joys of childhood. Yuki and Junji are affectionate and playful parents and a loving support to one another. They imbue the boys with an encouraging sense of optimism and model a high degree of tolerance for their many antics. Their approach to parenting is especially poignant given that Yuki and the three oldest boys live with Fabry disease, a rare and progressive genetic disorder that may cause numbness and burning pain in the body, especially in the extremities, and may affect the functioning of the heart, kidneys and other bodily systems. For the Yoshie family, Fabry disease is an intergenerational story, one that is woven like threads throughout the family fabric.
When Junji and Yuki were both 24 years old, they fell in love in a most unlikely place: a fire station. Junji, a well-regarded firefighter known for his dedicated work ethic and athletic skill, met Yuki the day she started working at the same department. They married within one-and-a-half years and were eager to build a family. When their boys were little, the whole world looked bright. They had never heard the word Fabry and didn’t know anything about the hereditary disease that would change the course of their lives.
“Fabry runs in my mother’s family,” Yuki explains. However, nobody was aware of this until Yuki’s brother began showing severe symptoms as an adult. “My brother had numbness in his legs when he was young. We thought they were growing pains.” However, when he was 40 years old, Yuki’s brother’s symptoms worsened significantly. “As an adult, he was always very tired and had bad headaches,” Yuki explains, “but he was too busy to go to the hospital. He had several strokes and renal issues. When he started to lose his memory and have problems at work, they did tests on him and he was finally diagnosed with Fabry. He had to quit work soon after. He lives at home by himself now, but he cannot do things alone. He cannot even recognize simple things like a traffic signal turning red.”
As her brother’s health declined, so did her family’s conversations about him. Although family members took care of his physical needs, nobody spoke about the illness that was behind it. Watching her own family’s reaction to her brother’s physical and mental decline was a lesson in the harsh cultural stigma surrounding hereditary disease in Japan. Yuki explains that hereditary disease is a taboo subject and some people still hold beliefs that one’s illness stems from one’s own doing. When Yuki’s mother was alive, she was ashamed of her own son’s illness. “My mother lived close to my brother in Hiroshima. She saw him getting worse and worse. She told me if she had known about this disease, she would not have had children. She told this to her own daughter!” As her brother worsened, her mother also avoided explaining what she must have known: that the disease her brother had was hereditary. “My mother’s perspective about disease was based on society’s perspective.”
When Yuki became aware of the hereditary nature of Fabry, she feared for her children. Her thoughts turned to her grandmother who died young from a stroke. Did she have Fabry as well? People simply did not talk about these things. When Souto, her eldest son, first started experiencing symptoms, it was like unravelling a family secret. “I was called by a school nurse. He was in so much in pain. We checked for mental and neurological causes for the pain and found nothing. We were wondering what it could be. When I recalled that one of the symptoms of Fabry was severe numbness and pain, I thought, ‘Could this be it?!’” The family went for genetic testing. It was found that Yuki and her three eldest boys all tested positive for Fabry. Yuki and Junji were devastated. “When we got our test results back, we were told that one of the genes in the DNA was not right. It’s like one difference in a huge ocean of DNA.”
Yuki herself has not experienced many symptoms of Fabry, but the pain of watching three of her sons suffer is almost worse. All three of them currently experience pain and numbness in their limbs that is starting to limit their physical abilities. Yuki and Junji make deliberate efforts to teach them what they can do, as opposed to what they cannot. “Due to numbness,” Yuki explains, “they cannot play soccer during the hot summer days anymore. So we switched them to ping-pong. These are things we can do to adjust to their needs.” Yuki and Junji also stay on top of the latest medical treatments for Fabry. The two oldest sons receive enzyme infusions.
While Yuki still worries her sons’ Fabry may progress, she is thankful that the infusions are working well for them and that their diagnosis came much earlier than her brother’s. She and Junji stay positive, despite their fears. “If you think about fear, this disease can take you down. I am afraid when my thoughts spiral.” Yuki’s trust in God brings her mind and heart into the present moment. “Anyone can go down a dark path, but I don’t think this is the point. What you can worry about tomorrow, leave for tomorrow. Focus on now. I believe that things in life happen for a reason and that God has given us this particular life because He has a plan.”
Yuki expounds that Fabry, despite its challenges, has brought her family many gifts. As a member of a local church and several community groups, Yuki credits Fabry with bringing important people into her life with whom she can speak openly. Together, she hopes they can create a paradigm shift in how Japanese society approaches hereditary disease. “Japan is still a closed society,” explains Yuki, “People may point their finger at you for having Fabry. But now it is time to be international and more open—it is time to collaborate with the world.”
Yuki has grand plans to break Japan’s cultural silence surrounding genetic disease. She has many creative ideas about how to educate people about genetics including creating books, toys and games that teach people about how DNA brings forth life in all its wondrous forms. She even envisions fashion and accessories with designs inspired by genetics. “I want to send a message that DNA is an amazing plan that we were given from God.” She has a personal investment in this—she worries how people will treat her sons as they grow older, and wants to remove any stigma that would negatively impact their eligibility for good jobs or getting married. “Families are starting to accept genetic disease,” she says. “So that’s a step in the right direction.”
While no cure currently exists for Fabry disease, Yuki and Junji hope to work with pharmaceutical companies and the general public to help educate and advocate for medicines that target rare diseases. “I am very thankful for any company that will make medication for us. I appreciate it and I want the companies to know about us patients, too.” Junji also looks forward to the outcome of medical research. He is confident that medical advances will occur within his children’s lifetime so that they, and others with Fabry, will be able to lead healthy and productive lives. When he thinks about his boys, he laughs, affectionately calling them “messy, unfocused little rascals” and he hopes to keep them this way—happy and healthy enough to climb up on his shoulders and look out at the world as a place of infinite possibilities. By talking openly about Fabry at home and in public, Yuki and Junji plan to break down the barriers and stigma about disease in Japan and in turn, provide their children with all the blessings the world has to offer.
The flowering bushes and cherry blossom trees on the Nagoya University campus bloom in deep shades of pink and white. Hiroki maneuvers his wheelchair with ease through the familiar gardens, gazing pensively at the world around him. At university he studies the structures of proteins whose woven strands hold the codes that give life to everything, from the azaleas to human beings. These same strands, when altered by a single mutation, can also give rise to disease. Hiroki knows this experience firsthand. He lives with Pompe disease, which has affected every aspect of his life and inspired his passion for science; specifically, bioinformatics.
From infancy, Hiroki showed signs of illness that bewildered his doctors and frightened his young parents. His mom, Kazumi, recollects holding him, his tiny body burning and flush with frequent unexplained fevers from as young as one month old. As he grew, his limbs started to become weak due to weakness in his muscle tone. With fear in their hearts, his parents brought him to Osaka University Hospital where they did a biopsy of muscle tissue and diagnosed him with Pompe disease at the age of one. “We lived in Osaka then,” explains Kazumi. “We had no idea what Pompe disease was and were told that there was no treatment for it. We were devastated. There was no internet. We tried to look for information, but couldn’t find anything.” At that point, all the doctors could do for Hiroki was bring his fever down and treat his symptoms with pain medication. Pompe disease, his parents learned, is a rare, genetic disorder that causes progressive muscle weakness and loss of control over one’s breathing. Eventually the disease also destroys liver, heart and muscle function. Hiroki’s parents were shaken with the news that their beloved little boy, who was just learning to walk and speak his first words, faced a life fraught with pain and illness.
Despite the constraints of his weakened systems, Hiroki grew to be a joyful child with bright inquisitive eyes and a shy, but playful demeanor. He seemed to be thriving. So, when he started elementary school, he began to complain of severe headaches, his parents assumed it was a calculated attempt on his part to avoid school where he was sometimes bullied and laughed at for his slowness. However, the doctors took his complaints more seriously. Through several tests it was discovered that the headaches stemmed from breathing complications he experienced during sleep. The doctors encouraged him to use a BiPAP machine at night to help him breath and increase his oxygen levels. His parents secured the plastic mask and tube to his mouth and nose and watched his eyes close as the mechanical rhythm of the machine soothed him to sleep like a lullaby. It was a harsh image: their little boy wrapped in his blanket, attached to a breathing machine. Hiroki’s condition was clearly deteriorating and it broke his parents’ hearts.
Kazumi and Toshifumi were unsure how much to explain to Hiroki about Pompe. They needed to guide him through his physical difficulties, but didn’t want to frighten him. By the time Hiroki was in middle school, there was no way to hide the progression of his Pompe. He could no longer walk without help and climbing stairs was impossible. At the tender age when kids become more self-conscious of their bodies and appearances, Hiroki needed a wheelchair. “When I was younger,” Hiroki explains, “around elementary school age, my physical condition was such that there was not a huge difference between me and other kids. When I started junior high school it became difficult. I began using a wheelchair. My respiratory function degenerated. I got scoliosis that had to be corrected with a corset. It wasn’t fun.” As Hiroki’s self-awareness grew, his parents decided to tell him more about his diagnosis.
Hiroki courageously adjusted to his changing physical abilities. He made friends at school, became an ardent student with an expanding interest in science and attended conferences with other people living with Pompe. His parents beamed with pride over his achievements. They rarely spoke about the deterioration or difficulties that lay ahead. The flipside of this optimism was that they also never spoke of the potential of death. It was a taboo subject––one they knew could only be kept in the dark for so long. Kazumi recalls the sobering day that Hiroki learned Pompe was a terminal illness. “There was a TV documentary about Pompe disease. Usually the Pompe patient organization would contact us about a show like this, but this time we hadn’t heard about it, so it was by chance that we were watching it. Hiroki knew he had Pompe, but didn’t know much about it and didn’t know that it could be fatal. As we watched the documentary, there was a patient with a few months of life left. I was frozen. I kept looking at Hiroki’s face.” Hiroki took a deep breath, searching for the right words. “If the doctor says I have X amount of time to live,” he said firmly, “I want to know, because there is a lot left that I want to do with my life.”
Hiroki wanted to attend university. “It was his own decision,” says Kazumi. “I never thought of him going to university. He must have tried hard in his studies,” she says with a proud grin. Hiroki’s scores were remarkable––high enough to attend the renowned University of Tokyo. However, Tokyo was a notoriously difficult city to navigate in a wheelchair and far from home. Hiroki met with his parents and his homeroom teacher who persuaded him to attend school in Nagoya, which he could commute to more easily, and was a city with many more ramps and accessible buildings. Hiroki says giving up going to university in Tokyo was the first time in his life he truly resented having Pompe. He cried loud tears of sadness and anger. It was first time Kazumi saw her reserved son show such strong emotion. His dream, of living in Tokyo, away from his parents, in dormitories like other students, was unfairly out of reach. “When I face something I cannot do,” says Hiroki, “that’s when I feel like a patient.”
Nagoya University turned out to be an excellent second choice. Hiroki describes his life as unexpectedly similar to other students. He dives headfirst into his studies, he belongs to a tight-knit research group and he enjoys his free time playing video games with friends. Not surprisingly, he excels as a student and has developed passions in a wide range of academic fields including the life sciences, bioinformatics and computer programming. Hiroki’s burgeoning interest in researching the unspecified structures and locations of proteins in the body stems directly from his desire to understand the role proteins play in Pompe and related diseases. Recently, when a professor failed to show up for a class, Hiroki took charge for the day and led an engaging lesson. Hiroki has big plans for applying his studies after graduation. “What I want most is to work as a systems engineer so I can help people. Japan is not set up for people with disabilities. My dream is to create software and apps that help people with conditions like mine and other vulnerable people in society. I would do this freelance, so I could work from home.”
Recently, Hiroki’s Pompe has been progressing at a noticeably faster rate. “There are many things that I cannot do independently anymore. For example, going to the bathroom, changing clothes, and reaching something that is far from me. These things are becoming harder and it’s frustrating.”
For the past year-and-a-half, Hiroki’s dad has run a popular patient organization that focuses on education and improving quality of life for those with Pompe. Hiroki says he enjoys meeting with other patients and that his parents, too, benefit from the sense of community.
There are times, though, when even the patient meetings are difficult to attend, especially for Toshifumi. “When we first started taking Hiroki to the meetings when he was little,” he says, “he didn’t have many symptoms and our hope was that any symptoms would remain mild. Now, he seems to be worse than other patients.” While there is an unspoken family belief that there will be a cure for Pompe, even Hiroki is beginning to accept that it may not happen in his lifetime. Like the rest of his family, Hiroki’s older brother, Daiki, holds onto the hope that a new treatment will come soon. When Daiki was at school in Osaka, he had a piece of paper taped to the ceiling in his bedroom that read, “I hope Hiroki’s disease will be cured.” Kazumi explains that Daiki never talked about Hiroki but the message made him realize the strong sense of brotherhood that exists. “When I saw that note, I couldn’t contain my tears.”
As Hiroki enters young adulthood, he no longer engages in the adolescent struggle to separate from his parents. These days, he feels a deep well of gratitude towards them. “The greatest feeling I have for my mother,” he says, “is appreciation.” There is a quiet presence in his words, like they are teaching a lesson––to be grateful and focus on what is good in the present moment. As the sun sets in Nagoya, it casts a sideways light, illuminating the flowers and trees. Hiroki must settle in for the evening, gather his books, dine with his parents and then delve into his studies. While his disease may be limiting, his mind is vast and expansive. He is taking nothing for granted.
In March 2007, Mike was rushed to the emergency room after experiencing severe difficulty breathing. “I remember thinking they would give me a pill and I would be home in a few hours.” Instead, Mike was admitted to the hospital and told that he may never be able to return home again.
Leading up to that critical night, Mike had been misdiagnosed for nine years with Polymyositis, an inflammatory muscle disease that causes painful weakness and loss of muscle mass. However, it took until his third muscle biopsy, performed in the hospital in 2007, to be accurately diagnosed with Pompe disease. Having gone untreated for almost a decade, Pompe had debilitated the skeletal muscles of Mike’s diaphragm that allowed him to breathe. In order to stay alive, he received an emergency tracheotomy and was placed on a ventilator in intensive care. Four years later, when his son, Brian, was getting ready for his 8th birthday, Mike was still in the hospital.
“Four to eight, those are some big years to miss. I kept thinking, I can’t stay in here the rest of my life; I have to get home to my son.”
In addition to Brian being a big incentive to return home, Mike heard from a friend about a device which was being used to help spinal-cord injury patients breathe on their own by stimulating the diaphragm. For Mike, the logic was simple.
“Pompe is a muscular dystrophy disease and the diaphragm is a muscle. Since mine didn’t work on its own, I wondered if this device could help me get off the ventilator and return to my family.”
Once the idea had sparked, Mike and others did everything they could to make it a reality. In August 2011, Mike became the first person with Pompe in the world to receive a diaphragm pacing system. While this system may not be for suitable for all patients, it has enabled him to breathe independently for the first time in more than four years and return home to his wife, Debbie, and their son. Mike is now known as a trailblazer within the Pompe community; regarded for his strength and determination to battle the odds while helping to initiate a new procedure. Looking back on all the years when it may have been easier to give up hope, Mike insists, “God and family remained the two most important things in my life.”
“Maybe that’s why I have my son…maybe that’s why Brian was born; because I was going to get sick and needed him to inspire me. He gave me a reason to get home. Otherwise, I don’t think I would have had the strength.”
Mike, who has transformed his challenges into encouragement for others, is determined to continue his experience to expand public awareness about Pompe. He would like to see an increase in newborn screening for Pompe and other Lysosomal Storage Disorders, and plans to continue taking steps forward towards regaining an independent lifestyle.
“The struggle is never over, I’ve reached this goal – coming home – but I don’t plan on stopping here. I have a lot of other goals; to walk again, drive, and get back to work.”
On October 18, 2012, Mike and Debbie celebrated their family’s new anniversary- the day he returned home.
Winter weather has arrived and for Noah this means he must stay indoors—virtually all the time. “He can go out for a minute maybe,” says his mother, Tricia, from the family’s home in Whitby, Ontario, a suburb of Toronto. “We’ve learned. When he was outside for too long, the next day he has a fever.” Noah was born with Pompe disease, a rare, inherited lysosomal disorder that affects several body systems, including his muscular and respiratory health.
“It’s a big weight on my shoulders,” says Tricia. “When it comes to decision making with Noah, I’m on my own. I have to do what’s best for him.” Even when it is not easy, she is forced to limit his physical activity.
As a single mom, Tricia already had a full plate before Noah was diagnosed with Pompe. She raised an older son, Daryn, and daughter, Malaika, who still lived at home when Noah came along. She worked as a pharmacy technician and with some help from family members and neighbors, had been able to get by.
Noah was born healthy. However, complications soon arose. Noah began getting sick from his baby formula, so Tricia exclusively breastfed him, but his developmental milestones were delayed. Doctors seemed relatively unconcerned. “They said, ‘we’ll just wait and see,’” she remembers.
Around a month before Noah’s second birthday, he was admitted to the hospital and diagnosed with respiratory syncytial virus. During his recovery, a doctor noticed that Noah’s abdomen was distended. “They ordered an ultrasound. When that came back they were quite alarmed.” Noah’s heart and liver were both abnormally enlarged.
Noah was transferred to a larger hospital in downtown Toronto as geneticists ran additional tests. After three weeks they evaluated his acid alpha-glucosidase (GAA) enzyme activity and officially diagnosed him with Pompe. The buildup of tissue around his liver and heart were results of the glycogen accumulation from insufficient enzyme activity. “I didn’t know what to expect,” remembers Tricia, who was overwhelmed. “There was a room full of doctors. I was alone. They were telling me they were sorry. They weren’t expecting him to live.”
But Tricia never considered giving up on Noah. “When I found out what it entailed—how many doctor visits I would need to attend—I quit my job” Her days became laden with trips downtown to get Noah set up for treatment.
Despite an unrelenting schedule, Noah’s condition was stabilizing, bringing substantial relief to Tricia as well.
One large obstacle that remains is his social life. Noah is often met with a damaging portrayal of “otherness,” as he has struggled from exclusion and bullying in school and at local parks. However, like his mother, Noah resiliently fights this alienation with his own gestures of love. “He loves to give hugs,” says Tricia. “If he’s not giving his teachers at school a hug, they know something is wrong.” Noah also tends to find better social connection with peers in special education, older kids, and adults.
Noah has also sought additional support to navigate his school day. “I was apprehensive to get a wheelchair for Noah,” remembers Tricia, who was worried that a chair would negatively affect his development. However, the wheelchair has helped Noah conserve his energy, has not decreased his mobility, and has actually helped with social stigmas. “Now people hold the door for us,” relates Tricia. “Of course, they get confused later, when they see him spring out of the chair and start running around.”
Today, a fresh blanket of snow covers the front yard of the family’s home. When Tricia finally agrees to let Noah go outside, he’s nearly out the door. Tricia pulls him back by the collar, helps him to dress warmly and then lets him loose to explore the winter wonderland. “Watch this,” he cries out in an excited, high-pitched voice. Noah free falls onto his back, landing in a snow angel formation. He glides his arms through the snow, leaving his unique impression. Then, with both hands he forms snowballs and hurls them at his nearby siblings, all the while grinning his signature smile.
Rising from the gauntlet of difficulties that come with a rare disease is the fact that Noah has an incredibly supportive family, anchored by Tricia’s unwavering devotion as a mother. Despite the hours of stress and trepidation, she is grateful for what time this journey has afforded her. “Before Pompe, I always worked,” she says. “I never had time to spend with the kids. I look at this as a way of spending time with them, even though it’s not always playful.” While saying this, she’s dodging an onslaught of Noah’s snowballs, most of which explode in the air before ever making contact with their intended target. “Look at how happy he is,” Tricia remarks as a ball of snow strikes her shoulder. Noah bursts into laughter and the sounds of his joy spread wider than the spray of fresh snow.
As a teenager, Sam was very active, doing everything from ballet to sailing. But she often had hip pain and was chronically tired. She went to doctors often, but was always told that she was fine. In her early twenties she took up horseback riding, but noticed that she never had the strength in her legs to get up on the horse like the other riders. And that after a minute or two of cycling her legs would give out. Still, Sam did not realize there might be a disease behind these issues. “I just thought I wasn’t very good at stuff,” she says.
Then one late night Sam lost her vision and it didn’t return for ten minutes. This terrifying experience led Sam on a journey to finally being properly diagnosed. The diagnosis was devastating at the time, and Sam was sent into a place of great darkness. But with the support of her family and her partner, Stuart, and the strength of her own inner light, Sam has now come into a new relationship with her body and Pompe. “Now I know it’s not me that’s the problem, it’s the disease.”
Over the years, Sam has found many creative ways to work with the limitations of Pompe. One of the biggest hurdles she had to jump was figuring out ways to get her daughter’s needs met. Although the pregnancy with and birth of Poppy was straightforward, there were moments of extreme challenge in the first year of Poppy’s life. “I couldn’t stand. I couldn’t lift her [from the crib]. I was dependent on Stuart to get her at night and bring her in to be fed.”
Since then, Sam and Poppy have figured it out together, like the way Poppy knows she has to first climb on the couch if she wants Sam to pick her up. “I always felt like we were really in tune,” Sam says.
Sam works as an occupational therapist, specializing in treatment for chronic fatigue patients. Though she enjoys her job, getting up some days is hard and painful work. She is often in a lot of pain. “Pain is one of those things other people can’t see. But you’re in agony. It’s quite hard to communicate that to other people,” she says. “My life is hard sometimes, but I refuse to complain about any of it. I’ve got a disability but I don’t see myself as having a disability. I just get on with my life.”
One of the biggest ways Sam gets on with her life is by going to yoga regularly. “I could go on and on about yoga,” she says, laughing. “I feel much kinder towards my body now. I don’t think my body is rubbish anymore. Just because some parts don’t work doesn’t mean other parts don’t.”
Coming into a new relationship with her body and this disease has enabled Sam to now be in a supportive role for others living with Pompe, who are perhaps going through the darkness that Sam once went through. Together with members of the Pompe community, Sam has organized support teams who are in touch with patients immediately after diagnosis. They keep in touch via Skype, answering questions and sharing stories. Also with her Pompe friends through the Association Glycogen Storage Disease UK (AGSD), Sam is working on a book, 101 Tips for Pompe Disease, which will be a compilation of contributions from people all over the world who are living with Pompe. “It will be done soon,” she says with a smile. “Fingers crossed!”
Sam’s optimism doesn’t just pertain to the completion of her book — it is threaded through everything she says and radiates from her wide smile. She hopes to have another child, and to continue supporting others with Pompe and educating about the disease. “Pompe has taught me to be grateful for what I have. It’s taught me to be patient. To be more aware of other people and their needs. And to appreciate others. People are the same, whether we have a disability or not. Everybody is human. People have different challenges, and that’s ok.”
“If you rip a butterfly’s wing,” explains Alyssa, “it can’t fly.” In a soft whisper she goes on to describe how it’s the same for her skin. “If I tear it, then we have to wrap it so it can heal.”
Alyssa considers herself a Butterfly Child, a term used to describe kids whose skin is so delicate, even the slightest pressure can cause severe blisters. At birth, her body was covered in air bubbles, missing patches of skin, and ulcers. Her parents were devastated. They worried whether their baby would make it home from the hospital’s neonatal intensive care unit (NICU). Alyssa was eventually discharged, however, with a very difficult diagnosis – Recessive Dystrophic Epidermolysis Bullosa (DEB)- a connective tissue disease affecting the skin and mucosal membrane. For Alyssa, that means there is nothing to prevent her two layers of skin from moving independently of one another, resulting in friction and skin fragility. Shearing occurs because of a mutation in the Collagen alpha-1 (VII) gene, a protein chain that functions as an anchoring fibril between the external epithelia and underlying stroma.
The resulting wounds are both exterior and interior. Alyssa has a hard time eating because of constant pain in her esophagus, even though she needs the extra calories to regenerate her quickly deteriorating skin. She is also exceedingly careful to avoid any type of infection which means she is constantly dressing and redressing her wounds.
Socially, Alyssa has overcome many hurdles in school, including working hard to convince her peers that her condition is not contagious in hopes of making more friends. She is able to write her own homework and has some of the best penmanship in her class. “It’s because I take my time,” Alyssa explains with a smile.
Alyssa’s mother is determined to make sure her daughter has as normal a childhood as possible. “For the longest time we sat there and blamed ourselves,” said Katrina. “But you can’t blame yourself for not knowing, so from there we just had to find a new normal.”
One look into her steel blue eyes dispels any sense of pity one might feel based on her condition. With creativity and enthusiastic wonder, Alyssa giggles her way into conversations, eager to know what others are discussing and most importantly, if anyone needs help. With delicate determination, Alyssa takes her time with everything she does and has established an impressive balance between avoiding injury while remaining active and playful. Although the goal may be striving towards normality, with generosity abounding and an irresistible laugh, Alyssa is exceptional in every way. “I have my family and friends, but what makes me strong is believing in myself. No matter what I choose in life, EB is always going to be there; until there is a cure.”
Corinne has never known a day without Epidermolysis Bullosa (EB). “I’ve never known a day without pain. I don’t know what it’s like to feel that way,” she says.
In early childhood, Corinne tried not to think too much about her condition. She wanted to be “normal.” “I had a bunch of friends and I just never talked about my disorder,” she says. “I came from the ‘if you don’t talk about it, it’s not there, mentality.”
Then in fourth grade, while wearing a t-shirt and shorts, a classmate asked her what was wrong with her skin. “I wanted to say ‘NOTHING.’ But it was the first time I realized I was different. From then on, I always covered my arms and legs.”
Corinne’s mother passed away when Corinne was 15, an experience that later led her to attend peer support groups through her college’s counseling program. “It was powerful to be in a room with others who had gone through the same experience,” she says. She then realized that staying silent about her condition was not the best way to fit in with others. “By being secretive, it breeds shame, and that is not something I need to be doing,” she says. After earning a degree in Psychology and Sociology, Corinne had strong aspirations to help people in whatever ways that she could.
Immediately after college, she spent a year working with dEBra (Dystrophic Epidermolysis Bullosa Research Association of America), an experience that she found both challenging and rewarding. “It felt great to be able to help others like me. But it was also hard, because it was like looking in a mirror.” After a year with the patient advocacy organization, Corinne decided to move on to a different organization, Good Grief, focused on providing support to people who have lost an immediate family member. For the last four years she has been facilitating youth support groups. This is work that she gets a lot of satisfaction from and feels is deeply needed. “I get a really big joy from helping others. It takes me outside of myself.”
Corrine also continues to be passionate about helping people with health disorders. Being highly creative herself, she wants to see venues where people can express themselves through different mediums — writing, art, dance — in environments that are accessible to everyone. In her youth, Corrine was an avid dancer, but has since not been able to find a class that works for her. She has managed to find a yoga class with a teacher who is able to tailor the class to Corrine’s specific abilities. “Which is great that I found that, but I’d like to have a place where everyone can come and have the same opportunity to participate in whatever they want to do.”
Living with EB has not been an easy journey for Corinne, but she also believes that there is reason in everything and the difficulty of her condition does not have to be for nothing. “I believe that I’m going through this to be able to help others,” she says. Of course, some days this belief can feel more like a fairytale than a light in the darkness. After an extremely tough year, where skin cancer on her foot made her unable to walk for five months, and issues with her stomach dropped her down to a scary 80 pounds, Corinne admits, “Sometimes I just can’t put a positive spin on anything anymore. I’m learning things I’ve already learned. It’s getting harder to answer the ‘Whys?’.”
But despite it all, Corinne’s fierce independence and dark humor continue to carry her forward. “I was on my way to a meeting two nights ago and I was in a car accident,” she says casually. “But I was like ‘I actually got dressed today. I put makeup on. I don’t care if I got in a car accident. I’m going to this meeting.’”
And, true to her indomitable spirit, she did.