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Patient Stories
Patients with rare diseases and their families are our guiding star. Every day, we strive to make a life-transforming impact in their lives. We invite you to meet the patients and families we serve and hope that their stories inspire you as much as they inspire us.
gMG Patient Story
aHUS PATIENT STORY
LAL-D PATIENT STORY
PNH PATIENT STORY
LAL-D PATIENT STORY
PNH PATIENT STORY
HPP PATIENT STORY
LAL-D PATIENT STORY
LAL-D PATIENT STORY
aHUS PATIENT STORY
PNH PATIENT STORY
HPP PATIENT STORY
aHUS PATIENT STORY
PNH PATIENT STORY
HPP PATIENT STORY
aHUS PATIENT STORY
aHUS PATIENT STORY
Meet Adelyn
Diagnosed with HPP at 2 days old
When Adelyn’s mother, Jennie, first found out she was pregnant with her third child, she remembers thinking, “I don’t care if it’s a boy or a girl, as long as it’s healthy.” And sure enough, Jennie had a healthy pregnancy with no signs that anything was wrong.
And then, Adelyn was born, and she was very unhealthy.
"When she took her first breath, her whole chest cavity collapsed. She was blue in color. Her limbs were going the wrong way. It was really terrifying," said Adelyn’s father, Joe.
Adelyn’s doctor took X-rays, which came back showing limited bone growth, or, as Joe says, it was "similar to a jigsaw puzzle with all the pieces missing."
Adelyn’s doctors thought she could have osteogenesis imperfecta, a type of dwarfism, or hypophosphatasia (HPP). After several days involving many tests, including one that indicated her alkaline phosphatase level was zero, they determined that she had HPP, an ultra-rare, genetic, life-threatening metabolic condition that prevents minerals such as calcium and phosphate from being properly deposited in bones.1-3
Joe and Jennie were told that there were no approved or effective treatment options, but that there was a clinical trial involving an investigational enzyme replacement therapy called Strensiq® (asfotase alfa). Joe and Jennie didn’t have to think twice about enrolling Adelyn.
At 12 days old, Adelyn received her first treatment with Strensiq. And after a few months of investigational treatment, Adelyn was able to return home.
In October 2015, Strensiq received approval by the U.S. Food and Drug Administration. Adelyn transitioned out of the clinical trial and continues to receive Strensiq. She recently celebrated her first birthday and dazzles everyone with her ever-present smile.
As Joe says, "When I hold Adelyn now, it's like holding the sun -- a ball of warmth. She just looks at you and warms your heart. I think, while I'm looking at her, that, ‘You're amazing. You're a miracle. You probably shouldn't be with us, but here you sit, smiling hugely at me and making my life better each day.’"
View Important Safety Information for Strensiq below
View Strensiq Prescribing Information (PDF)
References:
- Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013; 10(suppl 2):380-388.
- Fraser D. Hypophophatasia. Am J Med. 1957;22(5)730-746.
- Whyte MP, Greenberg CR, Salman N, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913.
Meet Tristan
Diagnosed with LAL-D at 5 years old
Tristan was almost five years old when his parents, Holly and Steve, took him to the pediatrician because of his enlarged abdomen and persistent issues with constipation. Tristan’s doctor felt his abdomen and became concerned. X-rays revealed that he had an enlarged liver, but his doctor was unable to diagnose him. Next, Tristan’s parents took him to a gastrointestinal doctor who was also unable to diagnose him. Several months later, Tristan underwent a liver biopsy which revealed that he had stage-two scarring on his liver. This allowed his doctors to narrow down the possible causes for Tristan’s liver damage but they still could not provide the family with a specific diagnosis.
Eventually, a genetic doctor was able to diagnose Tristan with LAL-D. His parents described feeling a whirlwind of emotions and fear after learning their son had such a rare and serious disease.1 Learning that there was a clinical trial for LAL-D helped them cope with the situation. Tristan was enrolled in a trial for Kanuma® (sebelipase alfa), which he still receives today.
Holly says that today life with Tristan is starting to feel more routine. "He’s a typical nine year old kid who just wants to run and play; and he really doesn't let this disease hold him back."
See Important Safety Information for Kanuma below
View Kanuma Prescribing Information (PDF)
References:
- Bernstein DL, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58:1230-43. doi:10.1016/j.jhep.2013.02.014.
Meet Julia
Diagnosed with aHUS at 15 years old
Julia's symptoms began in April of 2012 when she was 14 years old and about to finish eighth grade. At school one day, she became tired and nauseous, and had trouble focusing. Over the next few days, she developed a piercing pain in her abdomen. Eventually, the pain was so intense that her parents brought her to the emergency room. She was admitted and treated for a suspected bacterial infection with antibiotics and pain medicine, and discharged once her symptoms subsided.
Over the next year and a half, Julia was admitted to the hospital several more times. She saw countless physicians and underwent many tests and medical procedures, including a bone marrow biopsy, renal biopsy and multiple platelet and blood infusions. "I saw doctors in oncology, rheumatology, nephrology, infectious disease, hematology — all different specialties. It was hard to see that many specialties and hear them all say, 'I don't know,'" recalls Julia.
The summer before her sophomore year of high school, Julia's condition deteriorated. Besides unbearable pain and nausea, she was experiencing kidney failure. Her father rushed her to a specialist at a hospital more than 100 miles away, hoping they would finally find the root of her symptoms. "I was watching Julia in my passenger seat, all curled up in excruciating pain, trying to console her the best I could. I wish no parent would have to see their child go through that," remembers Julia's father, David.
Julia was ultimately diagnosed with atypical hemolytic uremic syndrome (aHUS), an ultra-rare, genetic, chronic and life-threatening disease that progressively damages vital organs and can lead to stroke, heart attack, kidney failure, and death. Once confirming this diagnosis, Julia’s doctors were able to begin to manage her aHUS. 1,2
Since then, Julia has been able to complete a summer medical program at Georgetown University for high school students interested in a career in medicine – something she had to miss the prior year due to her month-long hospitalization. "I have wanted to go to medical school for a long time, even before I was sick. Now that I have been sick and have experienced a lot, it's prompted me further to pursue a career in medicine."
"Today I feel completely different than I did at this time last year. I can take my dog out on a walk without being out of breath. I can focus on other parts of my life without having to be distracted by the fact that I might be in the hospital next week," says Julia.
See Important Safety Information for Soliris below
View the Soliris Prescribing Information (PDF)
References:
- Benz K, Amann K. Thrombotic microangiopathy: new insights. Curr Opin Nephrol Hypertens. 2010;19(3):242-7.
- Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006;70(1):16-23.
Meet Joe
Diagnosed with PNH at 24 years old
Joe was completing his Master’s degree, engaged to be married, and on his way to becoming a professional mixed martial arts competitor when the symptoms began: unexplained fatigue, dark urine, back and stomach pain. After six weeks of numerous blood tests, Joe was referred to a hematologist who diagnosed him with paroxysmal nocturnal hemoglobinuria (PNH) – an ultra-rare, life-threatening blood disorder in which uncontrolled activation of the complement system leads to the chronic destruction of red blood cells.1 Historically, approximately one-third of patients with PNH do not survive more than five years from the time of diagnosis.2
When Joe was diagnosed, he says that he felt like his dreams were nearly shattered. He was worried that he would not have a future with his fiancée and was told he would never be able to compete in contact sports again. With this news, Joe could have simply thrown in the towel, but he didn’t. Instead, he made it his mission to educate himself and his family about PNH. Fortunately for Joe, his doctors were able to manage his PNH.
“I’ve never been one to back down in a fight, but when I was diagnosed with PNH, the prognosis was overwhelming. I had no choice but to view this disease as yet another challenge – one that I had to overcome. If anything, living with PNH has made me appreciate my time even more, and given me more drive to get back to doing what I love to do.”
Today, Joe shares his story with other patients with PNH to give them hope for the future. Joe is living his life on his own terms; he married his college sweetheart, welcomed the birth of two daughters, and is back in his routine.
See Important Safety Information for Soliris below
View the Soliris Prescribing Information (PDF)
References:
- Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2007 May;137(3):181-92.
- Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995 Nov 9;333(19):1253-8.
Meet Tanner
Diagnosed with HPP at 4 days old
When Tanner was born, his mother, René, did not suspect anything was wrong with him. Then his doctors noticed that his wrists were retracting and he had an unusual amount of cartilage. After his x-rays and blood work were evaluated, Tanner was diagnosed with hypophosphatasia (HPP). His doctors told René that he had a 50 percent chance of survival. She was terrified for her son.
A week later, Tanner’s pediatrician called René to tell her about a clinical trial for Strensiq® (asfotase alfa). Tanner’s health was declining and without an approved therapy for HPP, René felt that the clinical trial was the best option for her son. The family flew several hundred miles from Missouri to the clinical trial site in Delaware. Within a week, Tanner began his infusions and remained under his doctors’ supervision for the next five months.
Several years later, Tanner is still doing well and continues to receive treatment with Strensiq. "As Tanner has gotten old the clinical trial has helped him grow. He can walk. He tries to be very big and helpful," René shared. "My hope for Tanner in the future is that he enters into adulthood. I think that he's very smart, and I think that he is definitely going to go to college. I kind of hope that he will be a doctor, and maybe help kids like doctors have helped him."
Meet Justice
Diagnosed with aHUS at 9 months old
Danielle first noticed something was wrong with her son, Justice, one morning when he was nine months old. His face seemed a little swollen, which she attributed to allergies from trying a new food, until the next day when he woke up crying with even more facial swelling. She and Justice's father, Greg, brought their son to Urgent Care where he was treated for pink eye and sent home. Later that day, Danielle noticed that Justice's body was very limp and his eyes didn't seem to be focusing on anything. They rushed him to the local hospital, by which point Justice had begun to have a seizure.
Doctors at the hospital were unable to stop Justice's seizure and advised that he be transferred by helicopter to St. Louis Children's Hospital. Once there, the medical team told Danielle and Greg that Justice was experiencing kidney failure, which was causing him to bloat. He was intubated and started on dialysis for a couple of days, followed by plasmapheresis for another couple of days. "Justice had entire teams of doctors initially," recalls Greg. "It was heart-wrenching to see all these medical experts coming in, giving their thoughts, checking him and all of his symptoms, and trying to figure out what it was."
Several days later, Justice was diagnosed with atypical hemolytic uremic syndrome (aHUS), an ultra-rare, genetic, chronic and life-threatening disease that progressively damages vital organs and can lead to stroke, heart attack, kidney failure, and death.1,2 Danielle and Greg were devastated at first, but Justice's doctor explained that his aHUS could be managed.
His parents describe the joy of watching their son be a playful two-year-old enjoying many "firsts" like eating ice cream or going down a slide. Danielle says, "I appreciate all of the little things like taking Justice to the store, or taking him to the park, or going to parades. Every day is a very big blessing for us."
See Important Safety Information for Soliris below
View the Soliris Prescribing Information (PDF)
References:
- Benz K, Amann K. Thrombotic microangiopathy: new insights. Curr Opin Nephrol Hypertens. 2010;19(3):242-7.
- Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006;70(1):16-23.
Meet Victor
Diagnosed with PNH at 27 years old
Victor worked in the concert security industry and was planning a future with his fiancé when he started experiencing unexplained bruising, fatigue and abdominal pain. A visit to his doctor led to a month-long stay in the hospital, where he was diagnosed with aplastic anemia. He continued to have symptoms such as dark urine, difficulty swallowing and back pain. After trying unsuccessfully for two years to treat his anemia, his doctor referred him to a specialist, who diagnosed him with paroxysmal nocturnal hemoglobinuria (PNH) – an ultra-rare, life-threatening blood disorder in which uncontrolled activation of the complement system leads to the chronic destruction of red blood cells.1,2
When he was first diagnosed in his mid-twenties, Victor says he was devastated and felt as if he had crawled into a cave. He was getting blood transfusions monthly, had little energy and was told he might only have 10 more years to live. The most difficult thing about having PNH was missing out on activities with friends and family, and the toll it took on him mentally. He became depressed. “People were doing things without me and I felt like I wasn’t a part of normal society,” he says. “I didn’t want to talk to people.”
Victor and his doctor discussed options and he began appropriate management of his PNH. He also joined a support group at his wife’s suggestion, which radically changed his outlook.
“When I went to the first meeting and shared my story, I realized it’s important to know you are not alone and that there is hope,” Victor says. “It gave me a sense of comfort and encouragement. Now I know that others can benefit from my experience and I want to be an inspiration to them.”
See Important Safety Information for Soliris below
View the Soliris Prescribing Information (PDF)
References:
- Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2007 May;137(3):181-92.
- Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995 Nov 9;333(19):1253-8.
Meet Evie
Diagnosed with HPP at 2 weeks old
When an ultrasound revealed that Evie had extremely fragile and transparent bones, doctors told expectant parents John and Lindsey that it was not likely their baby girl would live long after birth. The hours that Evie’s parents expected to have with her turned into weeks, but the baby was gripped by seizures. Then, a routine blood draw revealed that Evie had low alkaline phosphatase (ALP), which enabled them to diagnose her with hypophosphatasia (HPP) – an ultra-rare, genetic, life-threatening metabolic condition that prevents minerals such as calcium and phosphate from being properly deposited in bones.1-3
Her parents were told that Evie’s case was very severe and that there were no approved or effective treatment options. At three months old, Evie was enrolled in a clinical trial to receive an investigational targeted enzyme replacement therapy, which was approved in 2015 and is now known as Strensiq® (asfotase alfa). Evie continues to receive Strensiq today.
Evie is, as her mother says, “writing the book on where we go from here. Her story gives other parents with special needs kids hope that they can be okay, and things can be good.”
View Important Safety Information for Strensiq below
View Strensiq Prescribing Information (PDF)
References:
- Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013; 10(suppl 2):380-388.
- Fraser D. Hypophophatasia. Am J Med. 1957;22(5)730-746.
- Whyte MP, Greenberg CR, Salman N, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913.
Meet Erica
Diagnosed with aHUS at 22 years old
Erica was expecting to have a fun family vacation at the beach, but instead spent a week exhausted in bed with a fever, sore throat, and chills. Unfortunately, her condition did not improve and Erica went to the emergency room after she became very dizzy. That visit turned into 27 days of in-patient care at the hospital.
After months of being misdiagnosed and with little improvement in her symptoms, Erica’s doctors determined that she was suffering from atypical hemolytic uremic syndrome (aHUS), an ultra-rare, life-threatening, chronic genetic disease that progressively damages vital organs and can lead to stroke, heart attack, kidney failure and death.1,2
Over the next year, Erica underwent dialysis and experienced nausea, exhaustion, and blood clots. Her kidneys became severely damaged and she lost vision in her left eye due to a retinal blood clot. She tried to keep up with her work and daily activities, but her illness became too much. She took a leave of absence from her job as a pre-school teacher and applied to receive a kidney transplant.
Eventually, Erica and her physician were able to get her aHUS under control. Her kidney function improved and she no longer required a transplant. She went back to work full-time and resumed her daily activities, something she once thought would never be possible.
“When my aHUS kept me from going to work and doing what I love, I began to lose hope. I’m so thankful that I am back to living my life.”
See Important Safety Information for Soliris below
View the Soliris Prescribing Information (PDF)
References:
- Benz K, Amann K. Thrombotic microangiopathy: new insights. Curr Opin Nephrol Hypertens. 2010;19(3):242-7.
- Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006;70(1):16-23.
Meet Jill
Diagnosed with aHUS at 28 years old
Over several frightening months, Jill went to her doctor repeatedly with softball-sized bruises all over her body. She was 28 and in renal failure, and doctors didn’t know why. After a battery of tests, she was diagnosed with atypical hemolytic uremic syndrome (aHUS), an ultra-rare, life-threatening, chronic genetic disease that progressively damages vital organs and can lead to stroke, heart attack, kidney failure and death.1,2
Over the next two years, Jill faced an onslaught of dialysis, nausea, exhaustion, dangerously high blood pressure and seizures. She tried to maintain some semblance of a normal life with her family, but she remained in end-stage kidney failure and on permanent dialysis. She was told that a transplant was not an option because her disease would likely attack the donor kidney.
Things took a turn for the better in 2011 when Jill and her doctor were eventually able to get her aHUS under control. She had a successful kidney transplant and was able to see her daughter off to her first day of kindergarten.
Jill has now returned to work and says her life has changed. “This grim, scary blood disease seems manageable.” To all those newly diagnosed with aHUS, Jill has a simple but powerful message: “Help is out there and we’re not alone anymore.”
See Important Safety Information for Soliris below
View the Soliris Prescribing Information (PDF)
References:
- Benz K, Amann K. Thrombotic microangiopathy: new insights. Curr Opin Nephrol Hypertens. 2010;19(3):242-7.
- Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006;70(1):16-23.
Meet The Trendys
Diagnosed at 17, 14, 11, and 9 with LAL-D
When two-and-a-half-year-old Brendan was found to have elevated liver enzymes during routine preoperative bloodwork, his parents, Rebecca and Scott, never imagined it was the first sign that all four of their sons were suffering from an ultra-rare devastating disease.
Further test results on Brendan revealed he had Stage 1 liver disease, but doctors could not determine what was causing it. About six months later, Brendan’s oldest brother Dakota became ill and test results revealed that he, too, had elevated liver enzymes. Surprised to see a common symptom in both children, Rebecca and Scott immediately reached out to Brendan’s doctor, who recommended they have their other sons tested. To the family’s shock, all four boys were found to have elevated liver enzymes.
Doctors began hunting for a genetic disease that could potentially be affecting the whole family, but tests did not reveal any conclusive results. Several years went by, and Dakota again became ill. This time, the boys’ doctors decided to test for something new—a genetic and progressive ultra-rare metabolic disease called lysosomal acid lipase deficiency (LAL-D).1 A week later, all four were definitively diagnosed with the disease.
By this time, Brendan was suffering from Stage 3 liver damage, and the other three boys, Dakota, Charles, and Alec, had Stage 2 damage. Rebecca and Scott were scared to learn about the severe outcomes that were associated with LAL-D, but Rebecca recalls crying with relief to finally have an answer to the mystery they’d been fighting for nearly a decade.
"It wasn't until we got the answer that I really felt that relief,” she said. “Now we knew what we were up against, we knew we could fight."
The four boys began treatment with an enzyme replacement therapy called sebelipase alfa (Kanuma®) in October of 2015 under an early-access program. Kanuma was then approved by the U.S. Food and Drug Administration on December 8, 2015 for the treatment of patients with a diagnosis of LAL-D. The boys all continue to receive Kanuma today.
See Important Safety Information for Kanuma below
View Kanuma Prescribing Information (PDF)
References:
- Bernstein DL, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58:1230-43. doi:10.1016/j.jhep.2013.02.014.
Meet Malin
Diagnosed with PNH at 35 years old
Malin was halfway through her second pregnancy when she started to feel very tired and ill. Initially, her doctor attributed her symptoms to her pregnancy, but tests revealed that Malin’s blood counts were extremely low. Malin was put on sick leave for the rest of her pregnancy and told that her symptoms would improve after she had her baby.
Malin’s condition did not improve after she gave birth, though, and her fatigue increased to the point where she was sleeping all day. She struggled with simple everyday activities and had to get help for the most routine chores. “My body was completely weak – I could not carry my child, I could not carry bags from the grocery store, I couldn’t take a walk, I couldn’t do anything. I was sad all the time and I cried a lot. I was diagnosed with depression, but I couldn’t connect the dots and no one else could either. It was awful.”
Over the next two years, Malin’s condition showed no improvement as she underwent multiple blood transfusions to ensure she didn’t get clots. After years of tests, she was finally diagnosed with paroxysmal nocturnal hemoglobinuria (PNH) – an ultra-rare, life-threatening blood disorder in which uncontrolled activation of the complement system leads to the chronic destruction of red blood cells.
A year after she was accurately diagnosed, Malin began receiving appropriate management of her PNH and has also returned to work.
Meet Maya
Diagnosed with aHUS at 4 years old
Maya was 4 years old when she woke up one morning feverish and vomiting, with a swollen face and a yellow skin color. Concerned for her daughter’s health, Maya’s mother Sylwia rushed her to the emergency room. The doctors ran several blood tests and recommended Maya receive plasma exchange. Her condition did not improve and she continued to feel unwell.
Four months later, Maya was again rushed to the hospital emergency room. She was diagnosed with high blood pressure, a dilated heart and pulmonary edema with fluid in her lungs. Maya was in kidney failure, and put on dialysis for two full days, but the doctors couldn’t save her kidneys. Maya continued to be very weak and struggled with everyday activities. After many months of tests, she was finally diagnosed with atypical hemolytic uremic syndrome (aHUS), an ultra-rare, life-threatening, chronic genetic disease that progressively damages vital organs and can lead to stroke, heart attack, kidney failure, and death.
“There was no treatment for this disease at this stage and that made things even more terrifying. I remember that there were a few days of reading, realizing how horrible the disease is and that we are faced with a life-long, life-threatening problem,” recalls Maya’s mother.
The disease also had a tremendous impact on the entire family with the family’s routine organized around Maya’s illness. Because of her failed kidneys, Maya was on home dialysis four times a week, from late in the evening till the early morning hours so that she could go to school during the day.
In summer 2012, Maya’s doctor was able to get her aHUS under control and she was able to have a successful transplant. Her mother Sylwia says that all she hopes for in the future is for Maya to have a relatively normal life.
Meet Albie
Diagnosed with LAL-D as an infant
When Albie was born, his mom, Charlotte, said that he was, “absolutely fine. Everything was fine for about two weeks.”
And then Albie started to have intestinal problems. His doctor thought he might be lactose intolerant or have reflux. However, he kept getting sicker, developing a large abdomen and groin, and wasn’t gaining significant weight. At two months of age he had only gained one pound since birth.
After numerous tests, physicians and hospitals, Charlotte still did not have any answers. Finally, a specialist narrowed the issue down to a metabolic storage disorder, but was not yet able to narrow down the diagnosis. According to Charlotte, when she asked what was going to happen to Albie, she was told, “Well, he’ll either live or he’ll die.”
These were words Charlotte would never forget.
After more tests, it was confirmed that Albie had a genetic and progressive ultra-rare metabolic disease called lysosomal acid lipase deficiency (LAL-D).1 At the time there were no treatments for LAL-D, but there was a clinical trial for an enzyme replacement therapy called sebelipase alfa (now known as Kanuma®). As Charlotte says, “It didn't matter, the fact that it was a clinical trial, it was something, so I was quite happy.”
After several weeks of treatment, Albie gradually began to put on weight and improve. He continues to receive the treatment once-weekly and is now four years old.
When Albie started pre-school Charlotte remembers bursting into tears. When a teacher asked if she was sad because he was leaving her, she said, “I'm not crying because I'm sad that he's leaving me, I'm crying because I can't actually believe he's here, I never thought I'd see the day.”
Charlotte says her hope for Albie in the future is “that he carries on being the way he is now, so he gets better. I just feel proud. He's fought for himself, he's been strong.”
See Important Safety Information for Kanuma below
View Kanuma Prescribing Information (PDF)
References:
- Bernstein DL, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58:1230-43. doi:10.1016/j.jhep.2013.02.014.
Meet Bill
Diagnosed with PNH at 28 years old
In 1985, Bill had already been living with aplastic anemia for 10 years when chronic bouts of fatigue during exercise landed him in the hospital, where he was diagnosed with paroxysmal nocturnal hemoglobinuria (PNH). At the time, very little was known about PNH, an ultra-rare, life-threatening blood disorder in which uncontrolled activation of complement, a component of the normal immune system, leads to chronic hemolysis (destruction of the red blood cells).1,2 In fact, Bill was only the second patient at his hospital to be diagnosed with the disease.
In addition to severe fatigue, Bill experienced stomach pain, kidney pain, dark urine, and dysphagia (difficulty swallowing). His symptoms made it difficult to eat and sleep. Soon, Bill became dependent on regular blood transfusions, which made day-to-day life all the more challenging. Still, as a married father of three with a demanding job, he pushed through each day and did his best to live life without focusing on his illness.
After years of managing his symptoms as best he could with blood transfusions—and periodic hospitalizations—Bill learned about Soliris® (eculizumab), a then investigational therapy that was undergoing clinical trials. He successfully enrolled in one of the trials in 2005, and soon began to see improvements in his symptoms. Specifically, Bill was able to stop receiving blood transfusions. He remains on treatment today.
Bill and his wife Nancy are now enjoying their retirement years and looking forward to what life with their three grown children will bring. As Bill says, “I've got one life to live and I’m going to live it to the fullest."
See Important Safety Information for Soliris below
View Soliris Prescribing Information (PDF)
References:
- Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2007 May;137(3):181-92.
- Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995 Nov 9;333(19):1253-8.
Meet Lauren & Maureen
Diagnosed with LAL-D at 8 and 12 years old
Lauren was in the first grade when she became ill with persistent abdominal symptoms. Her parents, Susan and Greg, took her to a number of specialists and discovered that her liver and spleen were enlarged and her liver enzymes were elevated. Lauren’s lab tests were repeated every few months and remained abnormal, but still, no one could pinpoint exactly what was wrong.
Eventually, Lauren underwent a liver biopsy, which showed severe scarring of the liver. Doctors began to consider the possibility of a genetic disorder, and eventually zeroed in on lysosomal acid lipase deficiency (LAL-D), a genetic and progressive ultra-rare metabolic disease associated with multi-organ damage in infant, pediatric and adult patients and premature death in infants.1 All three Walsh siblings were tested for LAL-D, and it was revealed that not only Lauren, but also older sister Maureen had the disorder. Younger brother Gregory was unaffected.
The diagnosis was daunting but the family quickly learned that they had the chance to enroll their daughters in a clinical trial for an investigational enzyme replacement therapy called Kanuma® (sebelipase alfa). Both girls have since experienced improvements in their liver enzyme levels, and continue to take Kanuma today. They are active kids who love hockey and dance, and don’t consider themselves any different from their peers.
"My hope for their future is the same as any parent of any child,” says Greg. “I know that they can deal with this or anything else and move on and live their lives."
See Important Safety Information for Kanuma below
View Kanuma Prescribing Information (PDF)
References:
- Bernstein DL, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58:1230-43. doi:10.1016/j.jhep.2013.02.014.
Meet Ruthie
Diagnosed with PNH at 28 years old
Ruthie was a typical college senior at the University of Georgia in 1996 when she began experiencing chronic fatigue and frequent headaches. She initially chalked it up to long nights and not getting enough sleep, but eventually visited the campus clinic when her symptoms became severe. After reviewing her lab results, the clinic advised her to see an oncologist at a local hospital in Athens.
At first, Ruthie was misdiagnosed with leukemia and then with aplastic anemia. She initially received treatment for aplastic anemia, but her condition deteriorated over the next few months. Finally, in 1999, Ruthie was diagnosed with paroxysmal nocturnal hemoglobinuria (PNH)—an ultra-rare blood disorder in which uncontrolled activation of complement, a component of the normal immune system, leads to chronic hemolysis (destruction of the patient’s red blood cells).1,2
By then, Ruthie was married with a newborn son, and she and her husband were scared to learn that PNH was a life-threatening illness that at the time had no approved treatments. Ruthie first learned about Soliris® (eculizumab) while it was in clinical trials, and began treatment shortly after it was approved by the U.S. FDA in 2007. Today, Ruthie continues to receive treatment, and has the energy to be an engaged and involved mother to three active kids.
As her husband David notes, “In the beginning, we didn't know how long Ruthie would be around, but today I'm excited for our children and for our future.”
See Important Safety Information for Soliris below
View the Soliris Prescribing Information (PDF)
References:
- Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2007 May;137(3):181-92.
- Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995 Nov 9;333(19):1253-8.
Meet Donnan
Diagnosed with aHUS at 39 years old
For 12 years, Donnan experienced various unexplained health issues, including stomach cramps, fevers, inflammation and feeling like he had the flu. He was diagnosed and treated for a number of different ailments; none of which seemed to alleviate his symptoms. His health continued to decline and ultimately his kidneys began to fail. He was in urgent need of a kidney transplant. Luckily, Donnan’s wife tested positive as a match and was able to serve as his kidney donor.
Unfortunately, after his transplant, Donnan’s condition worsened. Following additional testing, Donnan was finally diagnosed with atypical hemolytic uremic syndrome (aHUS), a genetic, chronic, ultra-rare disease that can progressively damage vital organs. 1,2
As a father of two young children, Donnan recalls being afraid of what the future would hold prior to his diagnosis. “Before my diagnosis I think my family was affected very emotionally. I know there were times that they had things that they were excited about experiencing with me and I wasn't able to be there.”
After Donnan’s physician diagnosed him with aHUS, he began treatment with Soliris® (eculizumab).* Today Donnan has been able to get back to the thing he loves most – spending time with his family. “I can chase my kids and play again,” says Donnan. “I think knowing what I have brings a peace to my life.”
“If I had to backtrack and come up with my biggest wish about aHUS, it would be that I was diagnosed 12 years ago,” says Donnan.
*Immunize patients without a history of meningococcal vaccination at least 2 weeks prior to receiving the first dose of Soliris. If urgent Soliris therapy is indicated in an unvaccinated patient, administer meningococcal vaccine(s) as soon as possible and provide patients with two weeks of antibacterial drug prophylaxis.
See Important Safety Information for Soliris below
View Soliris Prescribing Information (PDF)
References:
- Benz K, Amann K. Thrombotic microangiopathy: new insights. Curr Opin Nephrol Hypertens. 2010;19(3):242-7.
- Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006;70(1):16-23.
Meet Roberta
Diagnosed with gMG at 16 years old
When Roberta was 16 and attending nursing school in her home country of Romania, she started experiencing difficulty brushing her hair, keeping her hands up to write on the blackboard, and began to slur her words when she spoke. She found herself stepping on the curb on her walk to school and her foot would just flop. Her mom used to describe it as being like a sack of potatoes.
Ultimately, Roberta was diagnosed with generalized myasthenia gravis (gMG). Myasthenia gravis (MG) is a debilitating, chronic and progressive autoimmune neuromuscular disease.1-4 MG typically begins with weakness in the muscles that control the movements of the eyes and eyelids, and often progresses to the more severe and generalized form known as gMG, with weakness of the head, neck, trunk, limb and respiratory muscles.4
Eventually Roberta’s symptoms worsened to the point where she had to drop out of school and put her dreams of becoming a nurse on hold. Roberta recalls, “I wish that the doctors would have told me that this was something that was going to be with me for the rest of my life and that I'd have to adjust many of the dreams that I had. I learned this cruel truth in time.”
Over the next 20 years, Roberta and her doctor worked together to manage her symptoms. At 35 years old, she revisited her dream and put herself through nursing school, but still struggled with her gMG symptoms and was not able to work full time.
Roberta’s doctor recommended her for a clinical trial for Soliris® (eculizumab).* Her doctor noticed improvements in her voice, her ability to chew and swallow and her fatigue.** In addition, Roberta was able to return to work.
Despite her difficult journey living with gMG, Roberta continues to work with her doctor to manage her symptoms and says, “This experience has taught me to look at the small things that count. Now, I feel that I have something to look forward to and I am who I want to be.”
*Immunize patients without a history of meningococcal vaccination at least 2 weeks prior to receiving the first dose of Soliris®. If urgent Soliris® therapy is indicated in an unvaccinated patient, administer meningococcal vaccine(s) as soon as possible and provide patients with two weeks of antibacterial drug prophylaxis.
**The results from use of Soliris® (eculizumab) may vary.
See Important Safety Information for Soliris® below
View Soliris® Prescribing Information (PDF)
References:
- Huda R, Tuzun E, Christadoss P. Targeting complement system to treat myasthenia gravis. Rev. Neurosci. 2014: 25(4): 575-583.
- Howard JF. Barohn RJ, Cutter GR, et al. A randomized, double-blind, placebo-controlled phase II study of eculizumab in patients with refractory generalized myasthenia gravis. Muscle Nerve. 2013; 48(1): 76-84.
- National Institute of Neurological Disorders and Stroke. Myasthenia Gravis Fact Sheet. Publication date May 2017. http//www.ninds.nih.gov/disorders/myasthenia_gravis/detail_myasthenia_gravis.htm. Accessed October 12 2017.
- Meriggioli MN, Sanders DB, Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet Neurol. 2009-8(5): 475-490.
INDICATIONS & IMPORTANT SAFETY INFORMATION FOR
SOLIRIS® (eculizumab)
[injection, for intravenous use]
INDICATIONS
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Soliris is indicated for the treatment of patients with paroxysmal nocturnal hemoglobinuria (PNH) to reduce hemolysis.
Atypical Hemolytic Uremic Syndrome (aHUS)
Soliris is indicated for the treatment of patients with atypical hemolytic uremic syndrome (aHUS) to inhibit complement-mediated thrombotic microangiopathy.
Limitation of Use
Soliris is not indicated for the treatment of patients with Shiga toxin E. coli related hemolytic uremic syndrome (STEC-HUS).
Generalized Myasthenia Gravis (gMG)
Soliris is indicated for the treatment of adult patients with generalized Myasthenia Gravis (gMG) who are anti-acetylcholine receptor (AchR) antibody positive.
IMPORTANT SAFETY INFORMATION
WARNING: SERIOUS MENINGOCOCCAL INFECTIONS
Life-threatening and fatal meningococcal infections have occurred in patients treated with Soliris. Meningococcal infection may become rapidly life-threatening or fatal if not recognized and treated early.
- Comply with the most current Advisory Committee on Immunization Practices (ACIP) recommendations for meningococcal vaccination in patients with complement deficiencies.
- Immunize patients with meningococcal vaccines at least 2 weeks prior to administering the first dose of Soliris, unless the risks of delaying Soliris therapy outweigh the risk of developing a meningococcal infection. (See Serious Meningococcal Infections for additional guidance on the management of the risk of meningococcal infection)
- Vaccination reduces, but does not eliminate, the risk of meningococcal infections. Monitor patients for early signs of meningococcal infections and evaluate immediately if infection is suspected.
Soliris is available only through a restricted program under a Risk Evaluation and Mitigation Strategy (REMS). Under the Soliris REMS, prescribers must enroll in the program. Enrollment in the Soliris REMS program and additional information are available by telephone: 1-888-SOLIRIS (1-888-765-4747) or at www.solirisrems.com.
Contraindications
Soliris is contraindicated in:- Patients with unresolved serious Neisseria meningitidis infection
- Patients who are not currently vaccinated against Neisseria meningitidis, unless the risks of delaying Soliris treatment outweigh the risks of developing a meningococcal infection
Warnings and Precautions
Serious Meningococcal Infections
Risk and Prevention
See Boxed WARNING for additional information on serious meningococcal infections.
Life-threatening and fatal meningococcal infections have occurred in patients treated with Soliris. The use of Soliris increases a patient's susceptibility to serious meningococcal infections (septicemia and/or meningitis).
Vaccinate for meningococcal disease according to the most current ACIP recommendations for patients with complement deficiencies. Revaccinate patients in accordance with ACIP recommendations, considering the duration of Soliris therapy.
Immunize patients without a history of meningococcal vaccination at least 2 weeks prior to receiving the first dose of Soliris. If urgent Soliris therapy is indicated in an unvaccinated patient, administer meningococcal vaccine(s) as soon as possible and provide patients with two weeks of antibacterial drug prophylaxis.
The benefits and risks of antibiotic prophylaxis for prevention of meningococcal infections in patients receiving Soliris have not been established.
Vaccination reduces, but does not eliminate, the risk of meningococcal infections.
Closely monitor patients for early signs and symptoms of meningococcal infection and evaluate patients immediately if an infection is suspected. Meningococcal infection may become rapidly life-threatening or fatal if not recognized and treated early. Discontinue Soliris in patients who are undergoing treatment for serious meningococcal infections.
REMS
Because of the risk of meningococcal infections, Soliris is available only through a restricted program under a REMS. Under the Soliris REMS, prescribers must enroll in the program.
Prescribers must counsel patients about the risk of meningococcal infection, provide the patients with the REMS educational materials, and ensure patients are vaccinated with meningococcal vaccine(s).
Other Infections
Serious infections with Neisseria species (other than N. meningitides), including disseminated gonococcal infections, have been reported.
Soliris blocks terminal complement activation; therefore patients may have increased susceptibility to infections, especially with encapsulated bacteria. Additionally, Aspergillus infections have occurred in immunocompromised and neutropenic patients. Children treated with Soliris may be at increased risk of developing serious infections due to Streptococcus pneumoniae and Haemophilus influenza type b (Hib). Administer vaccinations for the prevention of Streptococcus pneumoniae and Haemophilus influenza type b (Hib) infections according to ACIP guidelines. Use caution when administering Soliris to patients with any systemic infection.
Monitoring Disease Manifestations After Soliris Discontinuation
Treatment Discontinuation for PNH
Monitor patients after discontinuing Soliris for at least 8 weeks to detect hemolysis.
Treatment Discontinuation for aHUS
After discontinuing Soliris, monitor patients with aHUS for signs and symptoms of thrombotic microangiopathy (TMA) complications for at least 12 weeks. In aHUS clinical trials, 18 patients (5 in the prospective studies) discontinued Soliris treatment. TMA complications occurred following a missed dose in 5 patients, and Soliris was reinitiated in 4 of these 5 patients.
Clinical signs and symptoms of TMA include changes in mental status, seizures, angina, dyspnea, or thrombosis. In addition, the following changes in laboratory parameters may identify a TMA complication: occurrence of two, or repeated measurement of any one of the following: a decrease in platelet count by 25% or more compared to baseline or the peak platelet count during Soliris treatment; an increase in serum creatinine by 25% or more compared to baseline or nadir during Soliris treatment; or, an increase in serum LDH by 25% or more over baseline or nadir during Soliris treatment.
If TMA complications occur after Soliris discontinuation, consider reinstitution of Soliris treatment, plasma therapy [plasmapheresis, plasma exchange, or fresh frozen plasma infusion (PE/PI)], or appropriate organ-specific supportive measures.
Thrombosis Prevention and Management
The effect of withdrawal of anticoagulant therapy during Soliris treatment has not been established. Therefore, treatment with Soliris should not alter anticoagulant management.
Infusion Reactions
Administration of Soliris may result in infusion reactions, including anaphylaxis or other hypersensitivity reactions. In clinical trials, no patients experienced an infusion reaction which required discontinuation of Soliris. Interrupt Soliris infusion and institute appropriate supportive measures if signs of cardiovascular instability or respiratory compromise occur.
Adverse Reactions
The most frequently reported adverse reactions in the PNH randomized trial (≥10% overall and greater than placebo) are: headache, nasopharyngitis, back pain, and nausea.
The most frequently reported adverse reactions in aHUS single arm prospective trials (≥20%) are: headache, diarrhea, hypertension, upper respiratory infection, abdominal pain, vomiting, nasopharyngitis, anemia, cough, peripheral edema, nausea, urinary tract infections, pyrexia.
The most frequently reported adverse reaction in the gMG placebo-controlled clinical trial (≥10%) is: musculoskeletal pain.
Please see full prescribing information for Soliris, including boxed WARNING regarding serious meningococcal infections.
Indications and Usage
STRENSIQ® is indicated for the treatment of patients with perinatal-, infantile- and juvenile-onset hypophosphatasia (HPP).
Warnings and Precautions
Hypersensitivity reactions, including anaphylaxis, have been reported in STRENSIQ® -treated patients. Signs and symptoms consistent with anaphylaxis included difficulty breathing, choking sensation, nausea, periorbital edema, and dizziness. These reactions have occurred within minutes after subcutaneous administration of STRENSIQ® and can occur in patients on treatment for more than one year. Other hypersensitivity reactions have also been reported in STRENSIQ® -treated patients, including vomiting, fever, headache, flushing, irritability, chills, skin erythema, rash, pruritus and oral hypoesthesia. If a severe hypersensitivity reaction occurs, discontinue STRENSIQ® treatment and initiate appropriate medical treatment. Consider the risks and benefits of re-administering STRENSIQ® to individual patients following a severe reaction. If the decision is made to re-administer the product, monitor patients for a reoccurrence of signs and symptoms of a severe hypersensitivity reaction.
Localized lipodystrophy, including lipoatrophy and lipohypertrophy, has been reported at injection sites after several months in patients treated with STRENSIQ® . Advise patients to follow proper injection technique and to rotate injection sites.
Patients with HPP are at increased risk for developing ectopic calcifications. In clinical trials, 14 cases (14%) of ectopic calcification of the eye including the cornea and conjunctiva, and the kidneys (nephrocalcinosis) were reported. There was insufficient information to determine whether or not the reported events were consistent with the disease or due to STRENSIQ® . No visual changes or changes in renal function were reported. Ophthalmology examinations and renal ultrasounds are recommended at baseline and periodically during treatment with STRENSIQ® to monitor for signs and symptoms of ophthalmic and renal ectopic calcifications and for changes in vision or renal function.
Adverse Reactions
The most common adverse reactions (≥ 10%) are injection site reactions, lipodystrophy, ectopic calcifications and hypersensitivity reactions.
Please see full Prescribing Information for STRENSIQ ® .
IMPORTANT SAFETY INFORMATION FOR KANUMA® (sebelipase alfa)
[intravenous infusion]
Indications and Usage
KANUMA® is indicated for the treatment of patients with a diagnosis of lysosomal acid lipase deficiency (LAL-D).
WARNINGS AND PRECAUTIONS
Hypersensitivity Reactions Including Anaphylaxis
Hypersensitivity reactions, including anaphylaxis, have been reported in KANUMA® -treated patients. In clinical trials, 3 of 106 (3%) patients treated with KANUMA® experienced signs and symptoms consistent with anaphylaxis. These patients experienced reactions during infusion with signs and symptoms including chest discomfort, conjunctival injection, dyspnea, generalized and itchy rash, hyperemia, swelling of eyelids, rhinorrhea, severe respiratory distress, tachycardia, tachypnea, and urticaria. Anaphylaxis has occurred as early as the sixth infusion and as late as 1 year after treatment initiation.
In clinical trials, 21 of 106 (20%) KANUMA® -treated patients, including 9 of 14 (64%) infants and 12 of 92 (13%) pediatric patients, 4 years and older, and adults experienced signs and symptoms either consistent with or that may be related to a hypersensitivity reaction. Signs and symptoms of hypersensitivity reactions, occurring in two or more patients, included abdominal pain, agitation, fever, chills, diarrhea, eczema, edema, hypertension, irritability, laryngeal edema, nausea, pallor, pruritus, rash, and vomiting. The majority of reactions occurred during or within 4 hours of the completion of the infusion. Patients were not routinely pre-medicated prior to infusion of KANUMA® in these clinical trials.
Due to the potential for anaphylaxis, appropriate medical support should be readily available when KANUMA® is administered.
Consider the risks and benefits of re-administering KANUMA® following a severe reaction. Monitor patients, with appropriate resuscitation measures available, if the decision is made to re-administer the product.
Hypersensitivity to Eggs or Egg Products
Patients with a known history of egg allergies were excluded from the clinical trials. Consider the risks and benefits of treatment with KANUMA® in patients with known systemic hypersensitivity reactions to eggs or egg products.
ADVERSE REACTIONS
The most common adverse reactions are:
In Patients with Rapidly Progressive Disease Presenting within the First 6 Months of Life (>30%): diarrhea, vomiting, fever, rhinitis, anemia, cough, nasopharyngitis, and urticaria.
In Pediatric and Adult Patients (≥8%): headache, fever, oropharyngeal pain, nasopharyngitis, asthenia, constipation, and nausea.
Please see full Prescribing Information for KANUMA ® .
