“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.
In March 2007, Mike was rushed to the emergency room after experiencing severe difficulty breathing. “I remember thinking they would give me a pill and I would be home in a few hours.” Instead, Mike was admitted to the hospital and told that he may never be able to return home again.
Leading up to that critical night, Mike had been misdiagnosed for nine years with Polymyositis, an inflammatory muscle disease that causes painful weakness and loss of muscle mass. However, it took until his third muscle biopsy, performed in the hospital in 2007, to be accurately diagnosed with Pompe disease. Having gone untreated for almost a decade, Pompe had debilitated the skeletal muscles of Mike’s diaphragm that allowed him to breathe. In order to stay alive, he received an emergency tracheotomy and was placed on a ventilator in intensive care. Four years later, when his son, Brian, was getting ready for his 8th birthday, Mike was still in the hospital.
“Four to eight, those are some big years to miss. I kept thinking, I can’t stay in here the rest of my life; I have to get home to my son.”
In addition to Brian being a big incentive to return home, Mike heard from a friend about a device which was being used to help spinal-cord injury patients breathe on their own by stimulating the diaphragm. For Mike, the logic was simple.
“Pompe is a muscular dystrophy disease and the diaphragm is a muscle. Since mine didn’t work on its own, I wondered if this device could help me get off the ventilator and return to my family.”
Once the idea had sparked, Mike and others did everything they could to make it a reality. In August 2011, Mike became the first person with Pompe in the world to receive a diaphragm pacing system. While this system may not be for suitable for all patients, it has enabled him to breathe independently for the first time in more than four years and return home to his wife, Debbie, and their son. Mike is now known as a trailblazer within the Pompe community; regarded for his strength and determination to battle the odds while helping to initiate a new procedure. Looking back on all the years when it may have been easier to give up hope, Mike insists, “God and family remained the two most important things in my life.”
“Maybe that’s why I have my son…maybe that’s why Brian was born; because I was going to get sick and needed him to inspire me. He gave me a reason to get home. Otherwise, I don’t think I would have had the strength.”
Mike, who has transformed his challenges into encouragement for others, is determined to continue his experience to expand public awareness about Pompe. He would like to see an increase in newborn screening for Pompe and other Lysosomal Storage Disorders, and plans to continue taking steps forward towards regaining an independent lifestyle.
“The struggle is never over, I’ve reached this goal – coming home – but I don’t plan on stopping here. I have a lot of other goals; to walk again, drive, and get back to work.”
On October 18, 2012, Mike and Debbie celebrated their family’s new anniversary- the day he returned home.
Winter weather has arrived and for Noah this means he must stay indoors—virtually all the time. “He can go out for a minute maybe,” says his mother, Tricia, from the family’s home in Whitby, Ontario, a suburb of Toronto. “We’ve learned. When he was outside for too long, the next day he has a fever.” Noah was born with Pompe disease, a rare, inherited lysosomal disorder that affects several body systems, including his muscular and respiratory health.
“It’s a big weight on my shoulders,” says Tricia. “When it comes to decision making with Noah, I’m on my own. I have to do what’s best for him.” Even when it is not easy, she is forced to limit his physical activity.
As a single mom, Tricia already had a full plate before Noah was diagnosed with Pompe. She raised an older son, Daryn, and daughter, Malaika, who still lived at home when Noah came along. She worked as a pharmacy technician and with some help from family members and neighbors, had been able to get by.
Noah was born healthy. However, complications soon arose. Noah began getting sick from his baby formula, so Tricia exclusively breastfed him, but his developmental milestones were delayed. Doctors seemed relatively unconcerned. “They said, ‘we’ll just wait and see,’” she remembers.
Around a month before Noah’s second birthday, he was admitted to the hospital and diagnosed with respiratory syncytial virus. During his recovery, a doctor noticed that Noah’s abdomen was distended. “They ordered an ultrasound. When that came back they were quite alarmed.” Noah’s heart and liver were both abnormally enlarged.
Noah was transferred to a larger hospital in downtown Toronto as geneticists ran additional tests. After three weeks they evaluated his acid alpha-glucosidase (GAA) enzyme activity and officially diagnosed him with Pompe. The buildup of tissue around his liver and heart were results of the glycogen accumulation from insufficient enzyme activity. “I didn’t know what to expect,” remembers Tricia, who was overwhelmed. “There was a room full of doctors. I was alone. They were telling me they were sorry. They weren’t expecting him to live.”
But Tricia never considered giving up on Noah. “When I found out what it entailed—how many doctor visits I would need to attend—I quit my job” Her days became laden with trips downtown to get Noah set up for treatment.
Despite an unrelenting schedule, Noah’s condition was stabilizing, bringing substantial relief to Tricia as well.
One large obstacle that remains is his social life. Noah is often met with a damaging portrayal of “otherness,” as he has struggled from exclusion and bullying in school and at local parks. However, like his mother, Noah resiliently fights this alienation with his own gestures of love. “He loves to give hugs,” says Tricia. “If he’s not giving his teachers at school a hug, they know something is wrong.” Noah also tends to find better social connection with peers in special education, older kids, and adults.
Noah has also sought additional support to navigate his school day. “I was apprehensive to get a wheelchair for Noah,” remembers Tricia, who was worried that a chair would negatively affect his development. However, the wheelchair has helped Noah conserve his energy, has not decreased his mobility, and has actually helped with social stigmas. “Now people hold the door for us,” relates Tricia. “Of course, they get confused later, when they see him spring out of the chair and start running around.”
Today, a fresh blanket of snow covers the front yard of the family’s home. When Tricia finally agrees to let Noah go outside, he’s nearly out the door. Tricia pulls him back by the collar, helps him to dress warmly and then lets him loose to explore the winter wonderland. “Watch this,” he cries out in an excited, high-pitched voice. Noah free falls onto his back, landing in a snow angel formation. He glides his arms through the snow, leaving his unique impression. Then, with both hands he forms snowballs and hurls them at his nearby siblings, all the while grinning his signature smile.
Rising from the gauntlet of difficulties that come with a rare disease is the fact that Noah has an incredibly supportive family, anchored by Tricia’s unwavering devotion as a mother. Despite the hours of stress and trepidation, she is grateful for what time this journey has afforded her. “Before Pompe, I always worked,” she says. “I never had time to spend with the kids. I look at this as a way of spending time with them, even though it’s not always playful.” While saying this, she’s dodging an onslaught of Noah’s snowballs, most of which explode in the air before ever making contact with their intended target. “Look at how happy he is,” Tricia remarks as a ball of snow strikes her shoulder. Noah bursts into laughter and the sounds of his joy spread wider than the spray of fresh snow.
As a teenager, Sam was very active, doing everything from ballet to sailing. But she often had hip pain and was chronically tired. She went to doctors often, but was always told that she was fine. In her early twenties she took up horseback riding, but noticed that she never had the strength in her legs to get up on the horse like the other riders. And that after a minute or two of cycling her legs would give out. Still, Sam did not realize there might be a disease behind these issues. “I just thought I wasn’t very good at stuff,” she says.
Then one late night Sam lost her vision and it didn’t return for ten minutes. This terrifying experience led Sam on a journey to finally being properly diagnosed. The diagnosis was devastating at the time, and Sam was sent into a place of great darkness. But with the support of her family and her partner, Stuart, and the strength of her own inner light, Sam has now come into a new relationship with her body and Pompe. “Now I know it’s not me that’s the problem, it’s the disease.”
Over the years, Sam has found many creative ways to work with the limitations of Pompe. One of the biggest hurdles she had to jump was figuring out ways to get her daughter’s needs met. Although the pregnancy with and birth of Poppy was straightforward, there were moments of extreme challenge in the first year of Poppy’s life. “I couldn’t stand. I couldn’t lift her [from the crib]. I was dependent on Stuart to get her at night and bring her in to be fed.”
Since then, Sam and Poppy have figured it out together, like the way Poppy knows she has to first climb on the couch if she wants Sam to pick her up. “I always felt like we were really in tune,” Sam says.
Sam works as an occupational therapist, specializing in treatment for chronic fatigue patients. Though she enjoys her job, getting up some days is hard and painful work. She is often in a lot of pain. “Pain is one of those things other people can’t see. But you’re in agony. It’s quite hard to communicate that to other people,” she says. “My life is hard sometimes, but I refuse to complain about any of it. I’ve got a disability but I don’t see myself as having a disability. I just get on with my life.”
One of the biggest ways Sam gets on with her life is by going to yoga regularly. “I could go on and on about yoga,” she says, laughing. “I feel much kinder towards my body now. I don’t think my body is rubbish anymore. Just because some parts don’t work doesn’t mean other parts don’t.”
Coming into a new relationship with her body and this disease has enabled Sam to now be in a supportive role for others living with Pompe, who are perhaps going through the darkness that Sam once went through. Together with members of the Pompe community, Sam has organized support teams who are in touch with patients immediately after diagnosis. They keep in touch via Skype, answering questions and sharing stories. Also with her Pompe friends through the Association Glycogen Storage Disease UK (AGSD), Sam is working on a book, 101 Tips for Pompe Disease, which will be a compilation of contributions from people all over the world who are living with Pompe. “It will be done soon,” she says with a smile. “Fingers crossed!”
Sam’s optimism doesn’t just pertain to the completion of her book — it is threaded through everything she says and radiates from her wide smile. She hopes to have another child, and to continue supporting others with Pompe and educating about the disease. “Pompe has taught me to be grateful for what I have. It’s taught me to be patient. To be more aware of other people and their needs. And to appreciate others. People are the same, whether we have a disability or not. Everybody is human. People have different challenges, and that’s ok.”
“If you rip a butterfly’s wing,” explains Alyssa, “it can’t fly.” In a soft whisper she goes on to describe how it’s the same for her skin. “If I tear it, then we have to wrap it so it can heal.”
Alyssa considers herself a Butterfly Child, a term used to describe kids whose skin is so delicate, even the slightest pressure can cause severe blisters. At birth, her body was covered in air bubbles, missing patches of skin, and ulcers. Her parents were devastated. They worried whether their baby would make it home from the hospital’s neonatal intensive care unit (NICU). Alyssa was eventually discharged, however, with a very difficult diagnosis – Recessive Dystrophic Epidermolysis Bullosa (DEB)- a connective tissue disease affecting the skin and mucosal membrane. For Alyssa, that means there is nothing to prevent her two layers of skin from moving independently of one another, resulting in friction and skin fragility. Shearing occurs because of a mutation in the Collagen alpha-1 (VII) gene, a protein chain that functions as an anchoring fibril between the external epithelia and underlying stroma.
The resulting wounds are both exterior and interior. Alyssa has a hard time eating because of constant pain in her esophagus, even though she needs the extra calories to regenerate her quickly deteriorating skin. She is also exceedingly careful to avoid any type of infection which means she is constantly dressing and redressing her wounds.
Socially, Alyssa has overcome many hurdles in school, including working hard to convince her peers that her condition is not contagious in hopes of making more friends. She is able to write her own homework and has some of the best penmanship in her class. “It’s because I take my time,” Alyssa explains with a smile.
Alyssa’s mother is determined to make sure her daughter has as normal a childhood as possible. “For the longest time we sat there and blamed ourselves,” said Katrina. “But you can’t blame yourself for not knowing, so from there we just had to find a new normal.”
One look into her steel blue eyes dispels any sense of pity one might feel based on her condition. With creativity and enthusiastic wonder, Alyssa giggles her way into conversations, eager to know what others are discussing and most importantly, if anyone needs help. With delicate determination, Alyssa takes her time with everything she does and has established an impressive balance between avoiding injury while remaining active and playful. Although the goal may be striving towards normality, with generosity abounding and an irresistible laugh, Alyssa is exceptional in every way. “I have my family and friends, but what makes me strong is believing in myself. No matter what I choose in life, EB is always going to be there; until there is a cure.”
Corinne has never known a day without Epidermolysis Bullosa (EB). “I’ve never known a day without pain. I don’t know what it’s like to feel that way,” she says.
In early childhood, Corinne tried not to think too much about her condition. She wanted to be “normal.” “I had a bunch of friends and I just never talked about my disorder,” she says. “I came from the ‘if you don’t talk about it, it’s not there, mentality.”
Then in fourth grade, while wearing a t-shirt and shorts, a classmate asked her what was wrong with her skin. “I wanted to say ‘NOTHING.’ But it was the first time I realized I was different. From then on, I always covered my arms and legs.”
Corinne’s mother passed away when Corinne was 15, an experience that later led her to attend peer support groups through her college’s counseling program. “It was powerful to be in a room with others who had gone through the same experience,” she says. She then realized that staying silent about her condition was not the best way to fit in with others. “By being secretive, it breeds shame, and that is not something I need to be doing,” she says. After earning a degree in Psychology and Sociology, Corinne had strong aspirations to help people in whatever ways that she could.
Immediately after college, she spent a year working with dEBra (Dystrophic Epidermolysis Bullosa Research Association of America), an experience that she found both challenging and rewarding. “It felt great to be able to help others like me. But it was also hard, because it was like looking in a mirror.” After a year with the patient advocacy organization, Corinne decided to move on to a different organization, Good Grief, focused on providing support to people who have lost an immediate family member. For the last four years she has been facilitating youth support groups. This is work that she gets a lot of satisfaction from and feels is deeply needed. “I get a really big joy from helping others. It takes me outside of myself.”
Corrine also continues to be passionate about helping people with health disorders. Being highly creative herself, she wants to see venues where people can express themselves through different mediums — writing, art, dance — in environments that are accessible to everyone. In her youth, Corrine was an avid dancer, but has since not been able to find a class that works for her. She has managed to find a yoga class with a teacher who is able to tailor the class to Corrine’s specific abilities. “Which is great that I found that, but I’d like to have a place where everyone can come and have the same opportunity to participate in whatever they want to do.”
Living with EB has not been an easy journey for Corinne, but she also believes that there is reason in everything and the difficulty of her condition does not have to be for nothing. “I believe that I’m going through this to be able to help others,” she says. Of course, some days this belief can feel more like a fairytale than a light in the darkness. After an extremely tough year, where skin cancer on her foot made her unable to walk for five months, and issues with her stomach dropped her down to a scary 80 pounds, Corinne admits, “Sometimes I just can’t put a positive spin on anything anymore. I’m learning things I’ve already learned. It’s getting harder to answer the ‘Whys?’.”
But despite it all, Corinne’s fierce independence and dark humor continue to carry her forward. “I was on my way to a meeting two nights ago and I was in a car accident,” she says casually. “But I was like ‘I actually got dressed today. I put makeup on. I don’t care if I got in a car accident. I’m going to this meeting.’”
And, true to her indomitable spirit, she did.