“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.”
“Mommy, I don’t want to go blind,” said Aydriana to her mother, Christine. “You’re not going to go blind tomorrow,” she responded, reassuring her. “We’re going to figure this out. And there are a lot of people out there that want to support you.” A few months prior, Aydriana had walked into her classroom to take the annual vision test at her school. She was in the third grade and up until this point, had always maintained perfect vision. As the letters were held up across the classroom, Aydriana squinted, struggling to identify them. She couldn’t see past the first line and failed the test completely. Shortly after, it was determined that she needed prescription glasses, which only helped minimally for a short while until her migraines continued to worsen, causing her to exclaim to her parents, “Why can’t I see?”
Aydriana was sent to an opthamologist who concluded that her eyes showed signs of retinal disease similar to Stargardt macular degeneration. Not only was her sight going to get progressively worse, but she was expected to eventually lose her vision completely.
“It was a very difficult time,” recalls Linda, Aydriana’s paternal grandmother, who would help Aydriana with her homework after school every day while her parents were still at work. “Aydriana couldn’t focus or concentrate. She would almost memorize the words instead of being able to read them. We would do it over and over again and Aydriana and I would smash heads because it was so frustrating.” Battling over the school work, nobody could quite understand the reason for Aydriana’s difficulties. As her father Fred describes, “To Aydriana, nothing was fair.”
To help Aydriana ease her frustration and discouragement. Christine set up a GoFundMe page to raise funds to take Aydriana to Australia to see her aunt before her eyes got worse.
Meanwhile, further genetic testing was administered to figure out which gene was causing Aydriana’s retinal disease. “We were devastated to hear that she was losing her vision,” reflects Christine, “but now I think, if that was all it was, it would’ve seemed like a huge blessing.” The results came back three months later and Aydriana’s family was called into the genetic counselor’s office. Fred was working all day and Aydriana was at school, so it was Christine, accompanied by her mother, Janet, who made it to the appointment.
“We got her tests back,” said the geneticist. “This is a rare and fatal condition. And there is no cure.” A moment of cold silence filled the room. Janet burst into tears, while Christine sat frozen with a blank, angry stare. From that moment on, nothing made sense. The doctor resumed speaking, but Christine did not comprehend the words. She could not believe what the doctor was saying.
The condition causing Aydriana’s retinal issue was a mutation in her CLN3 gene, a gene which provides the instructions for making a protein called battenin, critical to normal cell development. This mutation in the CLN3 gene causes a form of Batten disease, a condition that primarily targets the nervous system, with the first symptoms showing in childhood between the ages of four and eight years old. Symptoms include vision impairment, behavioral and cognitive issues, a gradual progression towards seizures, loss of movement, and early mortality.
Christine and Janet left the geneticist’s office stunned, without much guidance on what to do next. They were given some pamphlets and a few organizations to research. Once she got home, Christine started investigating. “I was obsessed with researching Batten disease,” states Christine. She took the prerogative to make another appointment with a metabolic specialist four days later, and for those days between appointments, Christine did not sleep. She spent all her time looking up information on the computer, arriving to the appointment with a long list of thorough questions. That doctor proved to be helpful, providing critical information and details about the condition. Since symptoms vary so widely from case to case, there was no truly accurate timeline that could be given for Aydriana’s specific progression. For her family, it was a surreal and terrifying waiting game. Aside from her vision loss, Aydriana was physically a fully-functional child, and it was painful to imagine her having seizures or needing the full-time assistance of a wheelchair.
An avid sports player, Aydriana played on her softball and soccer teams with vigor. Though her vision was failing, she could see out around the black spot of her retina and still hit the ball. “She can’t catch a pop fly, but she is one of the best hitters on the team,” says Fred, who has coached her team for the last three years.
“I’m not looking forward to her not being able to play soccer or softball,” he reflects. “Pretty much just being with her is all I care about. I start watching the clock and end up leaving work early just to be with her,” he remarks. Aware of the preciousness of time, Aydriana’s family is taking advantage of every moment, trying not to think too far head, and focusing on getting her the help she needs before it’s too late.
Determined to find answers, Christine puts all of her focus on research and connecting with the Batten disease community. “I’ve seen so many of these other Batten families online and in forums—at various stages—but nobody is talking about what they are personally doing to find a cure,” explains Christine. She connected with a scientific team at the American University in Lebanon that published an article about a potential treatment for CLN3. They will be presenting at Duke University this upcoming March, and invited the family to meet with them. Christine wrote to Beyond Batten, a non-profit organization targeting CLN3 specifically, asking if there was any way she could work under the umbrella of their organization with her own foundation for her daughter. A week later, she received an email from the President saying they would love to promote her foundation. Currently, seven other families raise funds under their own name, and at the end of the day, all the proceeds go to Beyond Batten and finding a cure for CLN3. “This changed my whole outlook on my life dramatically,” reflects Christine. “I was just about to go back to college and pursue marketing, and now I find myself focused on starting a non-profit to find a cure for my daughter.” “I trust any decision she makes,” says Fred, in support.
“2019 looks promising for Batten disease in terms of treatment,” says Christine. Clinical trials for gene therapies are on the horizon and Christine is hoping to get Aydriana into one as soon as possible. Beyond Batten is currently working on a proposal for the FDA with hopes to develop a combined drug treatment using two existing drugs that might significantly slow the process of this disease. “It’s not a cure, but it’s more time to find one,” says Christine.
In this time of waiting, Christine is focusing her efforts on fundraising. In the last two months, the family has raised a total of $15,000, from online campaigns. “There’s no way that somebody can tell me I’m not going to have her anymore. Not when there are treatments and cures out there,” she says. “They just need to surface. They need to be found.”
In a few months the NIH will be conducting a CLN3 study to gather as much information from every stage of CLN3 as possible. Aydriana has been invited to participate. She will visit with many doctors, getting an MRI as well as a spinal tap. It will be Aydriana’s birthday week, and though she knows about her eyes, she hasn’t yet been told specifically about CLN3.
As a nine-year-old, it is difficult to comprehend. But sitting in the living room one day after school, her mother helps her see her condition in a new light. By showing Aydriana the computer, she’s able to see all the people who have commented and left donations. “She doesn’t know about the full extent of her disease, but she knows she’s special in some way,” explains Christine. After reading all the messages, Christine says to Aydriana, “Look at how many people want to help you!” Aydriana can feel the support from her community, changing her view about her unique circumstances.
After this, Aydriana speaks from a new perspective. “You know what,” she says. “I’m glad I have this. Because maybe when I go to meet all the doctors at the study, maybe with my information, they can help other kids.” “Yes, that’s exactly it,” Christine replies. She closes the computer, and Aydriana runs across the living room giggling, chasing her new kitten. Picking him up tenderly, she sings, “This is my cat. His name is Hope.” The family adopted Hope into their family just after Aydriana’s diagnosis. Until a cure is found, it could be said that hope is truly what they need most.
Within a minute of sitting down at the kitchen table, Amy’s phone rings. It’s the school nurse. “I hope it’s not another seizure,” says Eddie, her husband, hands clasped together, staring downward. Their facial expressions quickly transition from the “welcome-to-our-home” smiles, to looks of doubt and worry. The nurse confirms their fears that Hudson, their youngest son, had a seizure at school.
“We’ll be up to get him,” says Amy before she hangs up—a note of acquiescence in her voice. Eddie lifts himself and grabs the car keys. Luckily the school is less than 15 minutes away. “Well, this is how it goes,” he quips as he heads out the door.
Hudson’s seizures are a relatively new chapter in his experience living with Batten disease, CLN3, a degenerative neurometabolic disorder that progressively causes severe neurological symptoms including blindness and seizures. Hudson has been mostly blind, though he’s retained some peripheral vision (his “sweet spot”), for the past five years, but didn’t have his first seizure until six months ago, at the age of nine.
Amy’s eyes wander around the room in contemplation. As Hudson’s mother, she has often gone into “warrior-mode” to find answers and protect her son, especially since his diagnosis in January of 2015. “After a seizure like this, he’s going to be really out of it. He loses his bearings. He’ll bang into walls. He gets very frustrated.” Her unwavering focus and support for Hudson’s day-to-day needs is astounding: maintaining a full-time job, spending time with Eddie, her older son Grant and caring for two dogs, all while exuding gracious warmth and down-home hospitality.
Hudson soon returns from school in a defeated state. He yells and sobs as Eddie tries to coax him upstairs to take a nap, hoping it will lessen the negative effects of the seizure. Amy has been searching abundantly, thumbing through volumes of research and resources on Batten disease, to come up with strategies to ameliorate Hudson’s situation. His diet has been a major focus.
A quick look around the family’s home in the quaint countryside outside of Columbus, Ohio, reveals this devotion. Hudson’s house is laden with an array of musical instruments, set in different rooms, waiting for inspired fingers to dance out new melodies — Hudson loves to play them all.
For Eddie, these instruments provide an outlet for creativity with Hudson. Far from the difficulties of living in a world designed for the fully-sighted, the comfort and natural ease of music is a welcomed universe for Hudson. “That’s our main connection,” says Eddie. “I’ll play bass, while he jams on the drums.” Together, they search for the right rhythm and tone to ease what, at times, can be a cacophonous affair.
Already in their mid-30s, the couple didn’t waste any time starting a family. First Grant was born, and then three years later, Hudson came along. “Hudson was born a big, healthy baby,” says Amy. “But he was fussy.” As Hudson grew, he became increasingly agitated, throwing fits and tantrums incessantly. “We didn’t just have terrible twos,” remembers Amy. “It was a nightmare. We had to tag-team. He would scream and cry and hit and kick and try to bite and scratch. It was exhausting.”
Once the family moved into their full-sized house, Hudson’s attitude seemed to improve, but soon his eyesight began failing. “That’s when we noticed he was going blind,” says Amy. “In his preschool class he was falling behind in terms of letter recognition. The daycare thought that he maybe had ADHD, or that he was on the autism spectrum. We had noticed that he always sat close to the TV, but a lot of kids do at that age.”
Hudson visited an ophthalmologist, who prescribed glasses to correct his 20/200 vision to 20/40. But Hudson only enjoyed decent sight for a brief moment. “Eight months later he was 20/400 to 20/1600,” says Amy. “At that point, we didn’t bother with glasses anymore.” Amy began researching what could cause such sudden-onset blindness in a young child. “I was thinking no way,” recalls Amy, when she first read the description of Batten disease. However, Hudson was soon referred to a neurologist who did numerous blood tests, resulting in the diagnosis of CLN3, a juvenile form of Batten disease. Faced with a terminal diagnosis, with no available treatments or cure, Hudson and his family did their best to digest this stark reality—a process that is still ongoing.
Hudson rises to his feet again, but it seems the ill after-effects of his seizure today are continuing to plague him. He plops down on the couch and Eddie switches on the TV. Before Eddie can settle Hudson in, he’s begun vomiting on the floor. Unfazed, Eddie grabs paper towels to clean up, while consoling Hudson. Tears continue to streak down his cheek. “I want medicine!” he shouts. Eddie rushes to the cabinet to get some vitamins and Tylenol.
“The behavioral stuff is the most underreported. It’s the most awful little secret that the Batten parents have to deal with,” explains Amy, referring to Hudson’s erratic, inappropriate, and sometimes violent behavior. The combative nature and need for constant attention has brought undue stress to the household at times. “When we get home, we’re spent and tired. We just wanna relax or get something done around the house, but Hudson requires nonstop attention.” To assuage some of the tension, Eddie and Amy recently hired an aide. “She is a saint!” declares Amy. “That has been one of the best things we’ve done recently,” says Eddie. “I was talking with a couple buddies at the [Batten Disease Support and Research Association (BDRSA)] conference…having that added support pretty much saved one of their marriages.”
Finding ways to help themselves and Hudson are crucial tactics for staying afloat in what can be a perilous balancing act. Going to BDSRA conferences has been inspirational, allowing each member of the family to learn more about the condition and connect with peers. Grant has been very active in the sibling group at the BDSRA. Eddie and Amy see these as important stepping stones to fostering more connection between the brothers. “I see Grant stepping up to facilitate the siblings’ group,” says Eddie optimistically.
Furthermore, supporting Hudson’s passions, have become a central focus for the family. “If it was up to Hudson, we’d be traveling all the time,” says Amy. “One of his goals is to visit all 50 states.” On their dining room table lies a 3D, topographical map of the United States—each state a separate piece that can be removed. “He can recognize each state by its shape,” she continues. So far the family has taken several trips toward Hudson’s goal, including Alaska and Hawaii. “It’s a stretch for us financially,” says Eddie, “but it’s worth it.”
This sheds light on Hudson’s natural intelligence which contradicts the decline of other faculties. Hudson taught himself braille quite quickly, and now takes great joy in reading and writing. “He wants to be an author,” reports Eddie. Amy brings out his brailler, a simple, six-button typewriter that speaks the letters back to you. “He knows both contracted and uncontracted braille,” she says. She also shows off the various books that he’s written. “He absolutely loves books. He loves the smell of a new book.”
Hudson begins to emerge from the post-seizure cloud that’s engulfed him for the last few hours wondering how he got to the living room sofa. “Daddy picked you up from school Hudson. You had a seizure today,” says Amy. Confusion aside, getting some fresh air suits Hudson well. The family takes him to a local farm to buy this year’s soon-to-be jack-o-lanterns. Tracing his hands over the bulging form of the pumpkins, Hudson identifies his favorite. “This one. Let’s get this one!” The real joy, for Hudson, is to experience some of the baby farm animals. He gently reaches out as baby goats quickly devour food from his hand, their darting tongues tickling his palm.
Throughout Hudson’s trials, he rarely complains. “He is so adaptive,” observes Amy. “Even though he’s lost his vision, he will never blame anything on it.” Hudson’s abilities, his intelligence, and his love are all driving forces keeping his family on the path toward hope. “When we first got the diagnosis,” says Amy. “I refused to believe that this was Hudson’s fate. I didn’t believe it for a second.” They all look toward new clinical trials for CLN3 treatments, as well as the hope for a more accepting and congenial world for Hudson to be a part of. “It’s taught me a lot about compassion,” reflects Eddie. “Now I know what other families go through. I say hi to those parents. I understand a lot better how to treat people who face different challenges.”
1 In English Braille there a number of contractions that, much like stenotype or shorthand, do not require the full set of characters to spell out a word. It is also known as “grade 2” braille.
“Look!” says Ryan proudly, “Katelynn is holding my fingers!” He raises his hand high above Katelynn’s head. Ryan is Katelynn’s twelve-year-old older brother and her greatest admirer. His mouth breaks into a grin as he lowers her fingers and rests them on her lap. He kisses her on the forehead. “I love you, Katelynn.” In the kitchen, their father, Gary, is preparing his famous spaghetti and marinara sauce, while their mother, Kathy secures Katelynn in her stroller in preparation for feeding her dinner. Ryan hops over to the keyboard to play music that fills the house with pre-holiday cheer. Tonight its butternut squash soup for Katelynn. Kathy stirs a nutritional supplement into her bowl for extra calories. Feeding Katelynn soup, one spoonful at a time, takes at least an hour. “Open up!” says Kathy lovingly. Katelynn spots the spoons coming toward her and opens her mouth. Kathy uses a vibrating wand to tickle Katelynn’s nose and cheeks to help her remember to swallow. “She loves food,” says Gary. “Doctors have told us to get her a g-tube to make feeding her faster, but we don’t want to take away one of the only things Katelynn can still enjoy.”
Suddenly and without warning, Katelynn makes jerking movements. Her arms and legs stiffen, with one arm swinging back and forth in a rhythmic motion against the table. Kathy, Gary, and Ryan drop what they are doing. “She’s having a seizure,” Gary says quietly. The family surrounds Katelynn; all three of them stroke her arms, lightly touch her back and gently combing their fingers through her hair. Kathy whispers, “You’re okay. You’re okay. We are all right here with you. You are not alone.” The seizure lasts for a few minutes. When Katelynn’s limbs finally relax, her head falls to one side. “Now she’s tired,” Kathy says. She carries her to bed. Katelynn’s room is princess-themed, complete with pink walls and a white and gold headboard fit for a palace. Kathy tucks her princess in and kisses her head.
Katelynn was born with CDKL5 deficiency (cyclin-dependent kinase-like 5), a genetic disorder that causes lack of motor control and seizures that impair development. “We had no idea she had CDKL5 when she was born,” Kathy explains, “but when she was an infant she made strange movements with her arms and I knew they didn’t look normal. She would sort of raise her arms and legs, and her face would turn red until she stopped breathing.” When Katelynn was first brought to the local ER, the doctors doubted there was anything wrong with her. But Kathy and Gary persisted. They took her to a neurologist who ordered an EEG, which confirmed that Katelynn was having seizures, lots of them. She was eight weeks old.
“We were terrified,” says Gary. “Katelynn was having seizures a few times a day.” Suddenly their lives were turned upside down–– Katelynn was thrust into a world of never-ending medical tests: lumbar punctures, MRI’s, spinal taps, sedation, intubation. “They could not figure out what it was. All the tests kept coming back normal. The doctors wondered whether it could be her food.” In any case, Katelynn was prescribed medication in an attempt to control the seizures. “The bad thing was that she required so much of it that she was sleeping 23 hours a day.” At this point, the doctors had no answer as to why Katelynn was prone to so many seizures. Kathy and Gary felt lost at sea.
“I simply wanted to know what was happening to my little girl and why,” remembers Kathy. The first geneticist they met told them that he could probably find answers by running extensive tests on Katelynn’s blood, but he discouraged the family from doing so. “He told us the tests would cost thousands of dollars and whatever disease he would find would not be curable anyway, so why spend the time and money?”
“It was at that point we realized we needed to go to a major children’s hospital,” Gary says. They had read that Boston was number one in the country and they made an appointment. They found the staff there warm and welcoming. The geneticist told them he’d be able to quickly figure out Katelynn’s diagnosis and he agreed that they should know what Katelynn had, that they’d be better off knowing what her illness was. “He told us he was going to give us news we didn’t want to hear, but that we’d be better informed to choose the right meds and the right treatments.” This approach fit well with Kathy’s and Gary’s hopes and goals for Katelynn. “It made sense to us. We always want the best for her.”
A few months later, Kathy got the call. “I was at my parents’ house. Gary was on his way home. The doctor said, ‘I got results and I think you should be sitting down’. He told me Katelynn had a rare disorder called CDKL5. I dropped to the floor and was crying because I knew what CDKL5 was. I had researched all of the possible diagnoses and I knew CDKL5 was devastating. ‘’She’s not gonna have a chance at life,’ I sobbed. I had been secretly hoping whatever she had was curable and fixable. I now knew what her future was gonna be.’”
The multiple hospital stays took their toll on little Ryan, whose family was constantly being separated by Katelynn’s medical needs. “Ryan was 4 or 5 at the height of Katelynn’s hospital stays. He often stayed with his grandparents, who have been instrumental in helping us get through all of this. “I was little and I wanted my parents,” Ryan says. “Sometimes I was at my grandparents for a month and I was always scared that my sister was going to die.” One thing that helps Ryan is a club called “Sibling Shops”, where siblings to kids with disabilities come for 2-3 hours at a time and play games, eat and talk about hardships. “You can talk about things that are bottled up inside. You can talk about anger or about other people who think we have it just as easy as they do.
At one point, the family experienced a period of relative calm and peace. Her treatments started providing Katelynn with total seizure control. Katelynn also qualified to work intensely with physical therapists in order to gain skills she had never before been able to master due to the interference of seizures. “For the first time,” explains Gary, “she was sipping from a straw, holding her own bottle, eating more solid foods. She was even sitting up for periods of twenty minutes at a time, unattended!”
Unfortunately, one week into this seemingly miraculous period, Katelynn went into status epilepticus—she started having violent seizures, one on top of another that wouldn’t let up. Katelynn needed medical intervention urgently and Gary made a decision to drive straight to the ER where he had recently learned about an excellent doctor from another family who had a kid with CDKL5. “I drove in my truck literally as fast I could drive. Katelynn was seizing over and over the entire time. It was the absolute worst because we didn’t know if we would ever bring her home.” Once in the hands of medical care, Katelynn was put into a coma twice to stop the seizures. The doctor wanted to perform a tracheotomy, but Kathy and Gary refused. They insisted would she pull through without one. “She’s a tough girl,” Gary said. “She can handle it.”
Katelynn survived, but all the progress she had made with her physical therapists was lost. She was never able to regain any of the skills like sitting up and holding her bottle. “The physical therapists made us a video, though, of her progress. “It’s hard,” Kathy chimes in, “to remember what she could do. Like even now, she’s in a period of many seizures so she’s not even able to smile. She hasn’t smiled in three weeks. Usually she smiles all the time. That’s what she’s known for!”
Despite the immense challenges the family has faced with Katelynn’s illness, there is joy and love in every corner of every room in the house. They laugh together at the photographs of Katelynn in her elaborate, handmade Halloween costumes. Excitedly, they speak of their Make-A-Wish trip to Disney World, where Katelynn was able to enjoy two days at a park that was set up for kids in wheelchairs and in need of medical care. Kathy and Gary are proud of Katelynn’s experiences at school, which she attends full days from 8-3. When not having seizures, she has been having consistent success with a device called Toby, which is helping her to communicate through movements of her eyes.
A high-pitched cry comes from Katelynn’s room. She has woken up from her sleep and Gary carries her into the living room. “Hi Sweetie!” says Kathy. Gary places her gently on Kathy’s lap and the family settles into the couch with ease and comfort in their affection for each other. “She’s a great cuddler,” says Kathy, wrapping her arms around Katelynn. “Ryan likes to cuddle her so much that sometimes if you take her away from him, he’ll protest saying, ‘But I just got her!’” Ryan laughs at this idea and reaches for Katelynn’s hand. “She can feel that I am here,” he says. “Even if she can’t talk or walk. She knows that I am here and that is all that matters.”
Music is the first thing to rouse Kiera today. Her groggy yawns and outstretched arms come as a welcomed gesture to her parents who alight with their daughter’s awakening. Behind her lie the multitudes of machines monitoring Kiera’s health, moment-to-moment. The beeping of the EKG builds a slow cadence as her heart rate increases—the tempo of a new day, and the next act in what, at times, can be a harrowing portrayal of a rare disease.
The parents have been bedside for nearly a week in the PICU of the university hospital. “This is the first time we’ve been in the ICU, or had anything like this,” explains David, Kiera’s father. Kiera’s recent hospitalization is a disturbing new chapter in her battle with CDKL5 deficiency (cyclin-dependent kinase-like 5). “Her baseline is having these tonic-clonic seizures,” explains David. “It’s quick, violent, and severe… She normally has two-to-seven of those a day.” She was diagnosed with CDKL5 right before her third birthday, after over a year of investigation in an attempt to understand why she had been having regular seizures starting at eight weeks old.
Her current state however, was almost unfathomable a month ago. “Kiera is a beautiful girl,” says Katheryn. “She has pale skin, but she’s always had these bright red and pink lips—to the point where people would come up to her, when she was one or two years old, and ask if we put lipstick on her.” However, a little over a month ago, Kiera’s notably pink lips had started to fade. Then, a school nurse put an oxygen saturation monitor on her, and found that her O² levels were sporadically dipping to an alarming 60%. Seemingly out of nowhere, she had begun suffering from acute bouts of apnea. They called Katheryn, who contacted Kiera’s neurology team, and they recommended that she go to the ER. A day later, she was transferred to the PICU and has been there since.
For the PICU staff, Kiera’s situation was unique. “They have never seen this presentation in any kid—with any disorder,” says Katheryn. “They’ve never used these treatments on a child in this scenario.” The difficulties of discerning treatment protocols rests in the fact that CDKL5 is a newly discovered syndrome.
Far from being intimidated by their surroundings, David and Katheryn are quite familiar with the confines of the PICU as well as the complex science involved in understanding Kiera’s condition as both parents are themselves doctors. David works in Hematology and Immunology while Katheryn was an ER doctor. Since Kiera’s diagnosis almost ten years ago, they have been thrust into a perilous balancing act between their medical practices and the duties and responsibilities of being a parent to a child with a ferocious and, at times, all-consuming disease. Katheryn switched to parenting full-time and stepped out of the ER, while David continues to practice medicine. In a seamless blend of realities, they switch between playing the physician and the parent, tending to Kiera, discussing treatment options, and praying for a return to health.
Kiera remains sedate for the time being, occasionally lifting her head up. She finally sits up and motions toward Katheryn’s tablet, a beloved object, and begins to search the screen for soothing music. It becomes clear that despite her hindered verbal abilities, Kiera’s will to communicate, to be heard, and to understand the world around her, is profound.
“Kiera loves music. Always has,” says Katheryn. “She especially loves going to musicals. There was a point that we were in a clinical trial in New York, once a month, and so we’d spend the weekend going to Broadway shows. It was her treat.” “And ours too,” adds David. With Kiera’s influence the family has gone to see countless shows, deepening their collective love of musical theater. While David has continued to work full-time to support the family, he regularly looks forward to each weekend, when he and Kiera can hang out. “Weekends are really our time together. We just go do things on our own. It’s awesome. I very rarely think about medicine. I’m just a dad. The weekends are all about how can I make her laugh—how can we have fun?”
Katheryn and David are continually astounded by Kiera’s musical urges, and see it as an underlying admonishment to the world to listen to her. “It’s the music, the emotion, the communication,” says David. “She doesn’t have a lot of words she can say, but if it’s in music, she knows all the words.” “Singing uses a different part of the brain then talking,” says Katheryn. “I always tell her teachers to incorporate music in any way they can. She learns through music.” Kiera is able to recite entire musicals, but has difficulty speaking a single sentence, making it hard to find an appropriate education plan. “She has some words,” relays Katheryn. “She can express herself using sign language or gestures. Her receptive language is really good, but she can’t express herself to show what she knows.”
Suddenly an alarm goes off and the RN rushes into the room. Kiera’s O² levels have dropped again. Her eyes gaze downward and her chin falls forward and she becomes seemingly unaware of the activity around her. Katheryn is quick to grab the oxygen tube and, she fights to convince Kiera to breathe. “Come on Kiera. Come on baby, you can do it,” Katheryn pleads. The chorus of encouragement gets her through and within 30 seconds, the alarms quiet and Kiera resumes normal respiration. These episodes of apnea continue throughout the day, along with a few tonic-clonic seizures. Strangely many of these episodes haven’t registered on the EEG, meaning that the seizures are perhaps occurring very deep in the brain, possibly at the brain stem.
The mysteries of Kiera’s condition, and of CDKL5 in general, have challenged these two doctors. “I think the hardest part is just not being able to rapidly figure something out,” David laments. “That’s my job. I have to figure out a treatment for a patient. I think that’s been the hardest challenge. I’ve not been able to figure out something that really helps Kiera that much.” David spends much of the day by Kiera’s side in bed, talking to her, caressing her, and feeding her formula, sip by sip. When he’s not by her side, he is in conversation with Katheryn, trying to figure out what combination of drugs, or other procedures will help bring Kiera out of the fog.
The heightened emotions of the day and Kiera’s instability ebb and flow, but as the sun begins to set, Kiera is staying awake for longer intervals and gains energy. She gets into her stroller for a wheel around the floor, to see the autumn colors in regalia out the window. “GO!” she yells, and her parents perk up when they hear their favorite sound—the voice they know and love. And her personality begins to show: her exuberance, her love of motion, and her desire for connection. The hospital staff gathers around to partake in the joy of Kiera’s expressions. They blow bubbles for her, making her squeal with delight, as she reaches out to give high-fives. But alertness eventually gives way to a more quiescent state. Kiera stops blinking her bright brown eyes and begins to stare into space. Immediately, the alarms on her O² monitor begin to wail. The cycle continues.
Katheryn walks over to the windows as the sun sets on the Michigan horizon. “I tell her about the earth, the moon, and the stars. Honest to god, she looks at the moon…and she’ll go ‘woooow.’ She looks so happy. That’s what I want to share with her. The wonders of the world.” In this spirit of sharing the many wonders of life, Katheryn and David have worked tirelessly to support other families with CDKL5 as well. They co-founded the International Foundation for CDKL5 Research, raised funds for investigational therapies, and promoted several “Centers of Excellence” at top hospitals around the country, which now specialize in CDLK5 and related disorders, bringing whole teams of physicians together to work on treatments and study the progression of the disease.
This research brings a much needed dose of hope, knowing that potential new therapies could alleviate many of the problems that Kiera faces today. “One of the reasons we work so hard to keep her going is the hope that there will be something that will fully fix this,” says David. “We also know the reality, that in her lifetime, this might not happen. So we focus on quality of life. That’s our primary focus virtually every day.”
And all considering, Kiera is in remarkably good spirits as we say our goodbyes. I cross my arms over my chest in gesture to ask for a hug. Surprisingly, Kiera’s arms reach out and her hands wrap around my neck in a gentle embrace. I thank her sincerely and reflect her smile with my own. The positivity of her caretakers, the nurses in the ward, and of course, her parents have had a notable effect today, and Kiera shows her appreciation. “At the end of the day, I want her to know that I gave her my all,” says Katheryn. Holding eye contact and smiling toward her mother, Kiera makes it clear that she does.
“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.