For the Saito family, Fabry disease is generational—knowingly affecting the past three generations.
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.