By Meaghan Casey

For nearly four decades, Andra Stratton lived undiagnosed with a condition causing an uncontrolled loss of fat tissue — which is much more alarming than it might sound.  

A rare genetic disorder, familial partial lipodystrophy causes a drop in an important hormone called leptin that helps to regulate energy balance by inhibiting hunger. With a person’s metabolic system out of balance, fat can accumulate where it shouldn’t — in the blood or organs — which can lead to life-threatening complications such as insulin resistance, diabetes, high cholesterol, fatty liver disease, pancreatitis and heart disease.

The exact location of fat tissue loss varies from person to person. Some people with lipodystrophy may have areas on their body that look very thin, while other areas might appear large. Some might have very little visible fat tissue anywhere on their bodies and may appear extremely muscular. The latter has been the case for Stratton.

Stratton admits that it’s been easy to recognize the signs in retrospect. As a child, she had asthma, multiple bouts of pneumonia and other health issues, and as she approached her teens, she became increasingly thinner and more muscular looking.

“People kept saying I was just losing baby fat, but it was more than that,” said Stratton. “My appetite became a problem and I had headaches every day. I remember thinking that everyone must have been just as hungry as I was, but they managed it better.”

Most patients with lipodystrophy have markedly increased appetites. Yet, it wasn’t until Stratton’s first pregnancy that more symptoms revealed themselves. Doctors were alarmed when her blood sugar level topped 500 milligrams per deciliter. She was induced at 36 weeks and suffered eclampsia, a rare but serious condition where high blood pressure results in seizures.

“It was terrifying to think I almost died,” said Stratton. “Still, even after recognizing there was a bigger issue with my health, no one was delving any deeper. Outside of a physician I saw in college, who thought it might have been Cushing’s syndrome, but ruled that out, no one was able to give me a diagnosis.”

Partial lipodystrophy it is commonly misdiagnosed as Cushing’s or mistaken as problems associated with polycystic ovarian syndrome or metabolic syndrome while the rest of the health problems are ignored.

Stratton’s second pregnancy, however, turned out to be just as dangerous, and her cholesterol, blood pressure and blood sugar levels remained high. Then, at age 37, she had an abnormal mammogram. She met with an endocrinologist, which turned out to be a turning point.

“He knew exactly what I had,” said Stratton. “It wasn’t what I was expecting, but it was a relief it wasn’t breast cancer. It was the last piece of the puzzle that I didn’t really know I was searching for.”

Stratton began to get involved with advocacy groups to learn more about familial partial lipodystrophy. Her first trip was to San Diego for an event in 2012.

“I finally met people who looked just like me and I heard their stories,” said Stratton. “After that, I just jumped right in to the world of rare diseases and put the wheels in motion to start my own foundation.”

Today, Stratton is co-founder and president of Lipodystrophy United, an organization of committed individuals living with lipodystrophy. Its mission is to provide an interactive community, facilitating support and education for anyone affected by the disease. The organization serves as a resource, increasing awareness in the general population, as well as in the medical and insurance communities. It advocates and acts as a catalyst for new patient diagnosis by assisting healthcare professionals in the understanding of lipodystrophy trends, physical attributes and clinical symptoms in order to aid in the advancement of knowledge, treatment and future research. Stratton works closely with lipodystrophy stakeholders and has been the patient voice in meetings and conferences with lipodystrophy experts in the U.S. and Europe. Earlier this year, she was named one of the 100 most influential people in the healthcare industry by PM360.

“I’m lucky that I’m one of the healthier ones with lipodystrophy,” said Stratton, who has the most common mutation. “I was at one event with a 16-year-old sitting next to me with a gallon-sized bag of medication, and it took everything in me not to sob. I knew after meeting more patients, and thinking about other children being born with this, that I had to do something.”

The genetic disorder did not pass on to Stratton’s children, ages 12 and 15, who have become their mother’s biggest supporters.

“My daughters are wonderful,” she said. “Lipodystrophy is just part of our lives. They see my needles and they recognize when I need rest. I’m raising little advocates. For teens, body awareness is a big issue, but I’m teaching them to see that fat can sometimes be a really good thing.”

Because there are no cures for the disorder yet, management becomes crucial. Tools that vary in efficacy include diet and exercise, traditional therapies for metabolic syndrome such oral and injectable diabetes treatment, hormone replacement therapy, statin therapy and cosmetic options. Stratton was fortunate to have been raised by very health-conscious parents, who didn’t expose her to a lot of sugars and trans fats, which unwittingly helped her in the long run. That, however, is why diagnoses is so important. Stratton says there are a few hundred people in the U.S. diagnosed with familial partial lipodystrophy, but in reality, there are probably thousands living with it.

“What’s been exciting is that we’re getting new individuals reaching out every two or three weeks, so awareness is increasing,” said Stratton.

Treatment is also increasing. Stratton was one of the patients to participate in the clinical trial for Myalept, a leptin replacement therapy developed by Cambridge-based Aegerion Pharmaceuticals, a subsidiary of Novelion Therapeutics. It was approved by the FDA in 2014 for generalized lipodystrophy and further investment is being done in partial lipodystrophy.

“It’s been life-altering for me,” she said. “My health has significantly improved and it’s helped to normalize my appetite to some degree. I’ve also learned to balance and manage my fatigue.”

Another Cambridge-based company is working to develop a protein target to lower levels of triglycerides in the blood. It would help to slow down the metabolism and/or remove triglycerides from the bloodstream.

In addition, a number of other pharma companies are close to opening or designing a study.

“That’s not bad for a rare disease,” said Stratton. “My hope is that in the next few years, we get closer to full diagnosis in the U.S. I’d also love to create full-service centers for patients who are currently seeing six or more physicians for their different symptoms.”

“It’s promising,” she continued. “A few years ago, all we had was advice and traditional therapies. It’s tough to hear a diagnosis and think, ‘now what?’ Now, we have information, physicians’ guidelines, clinical trials, therapies and continuing opportunities to try something new.”

To hear more stories of patient journeys with rare and other diseases, register for MassBio's annual Patient Advocacy Summit on November 2nd. 

The post A Long Road to Diagnosis appeared first on MassBio.

The job of a parent is to protect his/her child, so it can be very frustrating when something goes wrong and no one has the answers.

That was the case for Jon and Amanda Miller of Tuckerton, N.J. Following a standard newborn screening, the Millers were given a clean bill of health for their son, Evan, who was born in 2009. But, over the next 12 weeks, they began noticing signs that all was not well.

“He was a beautiful, awesome baby, but we had some concerns,” said Jon. “He was hard to settle down and seemed uncomfortable unless he was sitting up. By the third month, if you touched his abdomen, he would writhe in pain. His stomach was so enlarged, it looked like he was pregnant.”

The Millers’ pediatrician initially tried to dissuade their concerns, attributing the symptoms to colic. Not convinced, Jon and Amanda took Evan to the emergency room, where a series of tests and an X-ray of his abdomen were performed. There, it was discovered that the entire cavity of his abdomen was filled with fluid — a condition known as ascites, which is commonly caused by liver disease or kidney failure. They were rushed by ambulance to Jersey Shore University Medical Center, and then to Children’s Hospital of Philadelphia.

“We were told ‘if we don’t figure out what’s wrong in the next 24-48 hours, he’s going to die,’” said Jon. “When we got to Philly at 2 a.m., there were 20 doctors in the room.”

After countless tests, they got the diagnosis later that morning. Evan had been born with hereditary tyrosinemia type 1 (HT-1), a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. Tyrosinemia is caused by the shortage of one of the enzymes required for the multistep process that breaks down tyrosine. If untreated, toxic substances build up in the blood and can cause liver failure, kidney dysfunction and neurological problems. Of the three types of tyrosinemia, HT-1 affects about 1 in 100,000 individuals.

Although Evan had been tested for tyrosinemia during newborn screening, the test only looked at elevated levels of tyrosine and not succinylacetone, so he had been given a false negative. Had he been properly diagnosed, doctors could have started treatment before some of the harmful effects occurred.

“My son was not the only one not diagnosed or misdiagnosed,” said Jon. “Fortunately, it was caught, but that was after three hospital visits and being days away from dying. In cases where it was never caught, those deaths were probably written off to an unknown liver disease.”

Following his diagnosis — and 56 hours without food — Evan was given his first dose of nitisinone, which had to be flown in from Nashville. The medicine has been shown to slow the breakdown of tyrosine, thereby reducing the amount of toxic by-products in the body. Patients must also a follow a special low-protein diet.

“We were still in the hospital and I remember Googling tyrosinemia and coming up with nothing — just one website of a kid with the same condition in North Carolina,” said Jon. “I had no idea what we were going to do next or how we would pay $8,000 to leave with the medication, so I ended up talking to that family, and they told me about NORD.”

Since 1987, NORD (National Organization for Rare Disorders) has provided assistance programs to help patients obtain life-saving or life-sustaining medication they could not otherwise afford.

Equipped with the new knowledge and assistance, Jon wanted to pay it forward. He started a Facebook group to connect with other families with children with tyrosinemia.

“I got a call from a father in India and his 8-month-old twins needed the medication,” said Jon. “I called NORD, my senators, the Red Cross and Sobi [which has developed and marketed the drug under the brand name Orfadin]. Sobi caught wind of it and did the right thing. Two weeks later, those kids had the medicine.”

Since then, Jon has assisted other families in Mexico and Algeria to receive medicine and care packages with food. He went on to form the Network of Tyrosinemia Advocates (N.O.T.A.), connecting with 300 families. The organization is committed to ensuring that no child or individual around the globe goes untreated, that every parent has the support they need and that newborn screening never misses a child’s diagnosis again. Although newborn screening reaches nearly 4 million babies born in the U.S. each year, it is a state public health service and 11 states are still not in compliance with the recommended screening for tyrosinemia. Jon has gone to each of those states to advocate for change.

“It’s my calling,” said Jon. “Evan suffered tremendously, and for no reason. The screening failed us. I’m so grateful we eventually went to the ER, but the feeling I still have is guilt.”

Evan is now almost 9 years old and, according to his father, “a rock star.” He loves Cub Scouts, “Ghost Busters” and his younger sister, Alice. He hopes to be a commercial pilot one day. As long as he maintains his diet and medication, he will no doubt be able to achieve that goal and more.

To hear more stories of patient journeys with rare and other diseases, register for MassBio's annual Patient Advocacy Summit on November 2nd. 

The post A Call to Action: Advocating for a Child with a Rare Disease appeared first on MassBio.

By Meaghan Casey

Since Rare Disease Day was launched in 2008, there have been thousands of events on the last day of February each year, bringing new awareness to hundreds of thousands of people. Yet, for more than 30 million Americans, it’s a far cry from a one-day event. For them, Rare Disease Day is every single day.

A disease is defined as rare if it affects fewer than 200,000 people at any given time. Living with one can be frightening and isolating—especially if that disease goes undiagnosed. The complex nature of rare diseases, coupled with limited access to treatment and services, means that family members are often the primary source of solidarity, support and care for their loved ones.

Brockton residents Seth and Janis Creedon have spent the last four years seeking a diagnosis for their young son, Luke, who has various symptoms of a connective tissue disorder that doctors cannot identify.

“There are over 7,000 diagnosed rare diseases, and we still don’t even have a hole to put Luke’s peg,” said Janis.

The closest comparison to Luke’s disorder would be Marfan syndrome, which also affects the body’sconnective tissue and limits its ability to grow and develop properly. Features of the disorder are most often found in the heart, blood vessels, bones, joints and eyes, but it does not affect intelligence. Janis has found the same to be true for her son. 

“The only thing that has proved to be a waste of time was an MRI,” she said. “There’s nothing wrong with his brain. It’s not a muscle. That’s been the only thing that came back fine.”

She describes Luke as fragile because of his lack of balance and muscle development. He has had respiratory and cardiac problems, as well as sleep apnea. Feeding him has also been a huge challenge due to issues with swallowing.

“After he was born, we knew pretty immediately something was wrong,” said Janis. “He had a lot of feeding problems and almost a cleft palate. We couldn’t get him to gain any weight, he had no muscle tone and he slept all the time.”

At 6 months old, Luke was referred to Boston Children’s Hospital to see specialists in neurology, growth, nutrition and genetics. 

“By that point, he weighed 13 pounds and developmentally was still like a newborn,” Janis said.

He began receiving physical therapy services almost immediately. Janis said she wasn’t even sure if he would be able to walk, but he completed that milestone at age 2½.

“He’s making progress, but we’re always discovering new challenges,” said Janis, explaining Luke is now seeing as many as 18 specialists. She credits the dedication of pediatrician Dr. David Chung, primary care physician, and Dr. Sharon Smith, a specialist in genetics and genomics, for much of his progress.

Recently, Luke had surgery to remove his tonsils and doctors also took out half an inch of his tongue on both sides to stop his tongue from blocking his airway in his sleep. He will soon be undergoing another surgery to close a hole in his heart.

“He’s a trooper,” said Janis. “He has such a wonderful disposition, it’s just amazing. We’ll go to the hospital and he’ll ask, ‘Am I sleeping here or am I getting a cookie?’ That’s how he distinguishes an overnight visit from a routine check-up.”

The Creedons’ story is featured in Cambridge BioMarketing’s film, Rare in Common. Produced in time for Rare Disease Day this year, Rare in Common follows the experiences of rare families: their struggles, their strength, and their hope for the future as they confront the challenges of living with a rare disease.

“Because the population is so small, often the voices of rare patients aren’t loud enough,” said Alisa Shakarian, creative director of art at Cambridge BioMarketing. “We thought, what if we brought them together to present a bigger story, with a louder voice. This is their forum to showcase their unique stories.”

Film producers spent time with each of the families, capturing their lives and medical journeys—starting with the path to diagnosis and transitioning to stages of treatment, advocacy and caregiving.

“These people are so inspiring,” said Shakarian. “They have so much strength and kindness and the biggest of hearts. Hopefully viewers take away how much love and life comes with the rare space.”

The intended audience is two-fold. For those who are familiar with or impacted by a rare disease, Shakarian hopes the film empowers them. For doctors and representatives from pharma and insurance companies, she hopes it makes them think about rare diseases differently.

“Every rare disease is different but they all have rare in common,” Shakarian said, referring to the film’s title. “We want the stories in the film to give people the inspiration to keep fighting and advocating to show everyone that there’s hope for a better future.”

“Before, we didn’t think there was anyone who understood what we are going through, but this film and the premiere event introduced us to a network of people just like us that fight and advocate each and every day,” said Janis. “They get it and live it just like us and that is a powerful and inspiring thing, to know we are not alone and part of something larger. It’s very reassuring to see parents with older children who have a system and who are doing well. I found them especially to be a resource.”

The Creedons were connected to Rare in Common through Patricia Ferland Weltin, CEO and founder of Rare Disease United Foundation. They had also participated in Beyond the Diagnosis, a rare disease art exhibit at Harvard Medical School.

Rare in Common premiered in Cambridge and has since been submitted to a number of film festivals. At South by Southwest in Austin, the film was shown as part of a session on building rare disease communities. Lisa Hazen, chief strategy officer at Cambridge Biomarketing, served as one of the presenters, examining how digital innovation can provide an incredible opportunity to unite isolated groups of people together for a common cause—discovering fellowship, engendering hope and taking action to pursue their health as individuals and as a collective.

To learn more, visit www.rareincommon.com.

The post Waiting for a Diagnosis appeared first on MassBio.

When their teenage daughter started experiencing unusual health symptoms, Bonnie and Joe Godas did what any good parents would do – searched tirelessly for answers. After seeing several doctors and undergoing numerous medical tests, their daughter Charlotte still did not have a diagnosis and continued experiencing mysterious aches and pains throughout her body.

The Godas’ were desperate to get answers and help Charlotte get well.

Charlotte’s symptoms – stomach distress, headaches, muscle aches, joint pain – appeared out of nowhere as the family has no history of serious illness. Charlotte struggled with health issues for months before finding the medical attention that they were desperately searching for at Boston Children’s Hospital.

Dr. Robert Sundel, Chief of Rheumatology at Boston Children’s Hospital, finally diagnosed Charlotte with lupus. Bonnie and Joe credit Dr. Sundel for Charlotte’s early diagnosis and helping her manage her symptoms to prevent more serious complications.

The Godas’ stress the importance of early diagnosis to prevent more serious complications, and credit the work that the Lupus Foundation of America is doing to accelerate the time to diagnosis for people with lupus. The family also recommends following the Foundation’s updates on new and promising research developments.

Charlotte is doing what she needs to do to stay healthy. She attends the University of Massachusetts Boston and has successfully finished her first year. She is managing her health based on everything that she has learned throughout her journey with lupus. She used to take eight pills, whereas now she only needs to take two pills and vitamin supplements as she has learned to manage her health together with her doctor, who has been a tremendous source of support and guidance.

The Godas’ say that the past five years have been a true nightmare but their family has become more resilient to the challenges of dealing with a cruel and mysterious disease. Charlotte’s brother, Alex, also has been a great source of support for his sister by using his humor and non-alarmist approach. Together, they have focused on doing the best they can day-by-day to avoid feeling overwhelmed.​

The post A Shared Journey of Hope and Resiliency appeared first on MassBio.

Ken Griffey Sr. is a three-time baseball All-Star and a prostate cancer survivor. After losing four uncles to the cancer, he chose to make regular prostate exams a priority, which helped him catch his cancer early. Through his family’s experience, he knows not everyone with prostate cancer will be so lucky. Because of that, he has joined Bayer’s Men Who Speak Up movement, which encourages men with advanced prostate cancer to know the symptoms of progressing disease and feel more comfortable speaking up. Ken is the keynote speaker at the Massachusetts Prostate Cancer Coalition’s annual Symposium on May 20 in Newton–one of several stops on his nationwide Men Who Speak Up tour. 

Q: What is your personal experience with prostate cancer?

Prostate cancer is a topic that’s important to my entire family. Back in 2006, I was diagnosed early during a routine screening. This was after years of requesting a prostate exam at each annual physical.  Having lost four uncles to the disease, I knew all the reasons why I should speak up about my prostate health. I responded well to treatment, but I still see my doctor regularly and keep close tabs on my body, how I’m feeling and whether there are any signals or symptoms that I should flag for my doctor.

Q: How did your uncles deal with having advanced prostate cancer?

My uncles weren’t great at talking about the symptoms they were experiencing. They were unfortunately diagnosed too late, during a time when there weren’t as many treatment options available. Today, it’s a different situation. Early diagnosis has helped, different treatments have helped and if the disease advances, doctors can help men recognize their symptoms and manage their disease if the men are willing to speak up about them.

Q: What is Men Who Speak Up, and how does it help patients with advanced prostate cancer?

Men Who Speak Up brings to life the symptoms of advancing prostate cancer, which can include fatigue, difficulty walking or sleeping, unexplained pain or difficulty doing normal activities. The program encourages men to speak up and take action against advancing prostate cancer. For most men, active surveillance following early diagnosis means their cancer can be controlled; however, there are times, like with my uncles, when prostate cancer advances and becomes life threatening. What appeals to me about Men Who Speak Up are the tools and resources that have been created to help men who have progressed to this stage. The symptoms tracker and the discussion guide in particular can make it much easier to prepare for doctor appointments. I don’t think anyone going through this would disagree that it can sometimes be difficult to gather your thoughts before an appointment. There’s a lot going through your mind, and a lot to cover in a relatively short period of time.

Q: What have you learned from working closely with other patients and with Bayer during this program?

I have always considered myself fairly well-informed when it comes to prostate cancer because of how common it is in my family. But after partnering with Bayer, I learned a lot of new things about the disease that I had never really thought about, such as the symptoms and how it can progress. Symptoms in prostate cancer can be tricky, because they often don’t emerge until the disease has advanced. It’s also not always easy or obvious to determine the cause of these symptoms, so a good rule of thumb, especially if you have advancing prostate cancer, is to talk to your doctor if you notice any changes in how you’re feeling.

Q: What is your advice for those affected by advanced prostate cancer?

The prostate cancer community is really active, and great strides have been made in raising awareness for the disease. But conversations still rarely go beyond early stage disease and screenings, leaving a gap in terms of what happens if prostate cancer advances. The reality of the situation is that prostate cancer is not just the second most common cancer diagnosed, it’s also the second leading cause of cancer-related death among American men. No one should be scared to speak up about their health, and I’d like to help men be empowered to talk about their advanced prostate cancer symptoms – it’s too important not to.

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By Meaghan Casey

Laabs’ foundation and Aura Biosciences advance efforts to develop new and better therapies to treat rare cancer patients

Four years ago, Memphis native Mark Laabs’ future was bright. He was 28, working in China as chief operating officer of a company dedicated to fighting climate change, and living out his calling to follow his “personal North Star.”

A single moment completely shifted where that North Star was leading him. While in a meeting in Beijing, Laabs lost vision in his right eye. Nearly 48 hours and five consultations later, he was sitting with the dean of ophthalmology at a major medical center, being told it was ocular melanoma.

A rare cancer, ocular melanoma is diagnosed in about 2,500 adults every year in the U.S. Although produced from the same cells, called melanocytes, ocular melanoma is different from skin cancer. It develops in the uvea, or uveal tract, of the eye. In approximately half of those diagnosed, the tumor can aggressively grow and spread to other parts of the body, becoming fatal.

As Laabs quickly discovered, there have been no targeted therapies available and the cancer is usually treated with an invasive radioactive plaque placed against the exterior of the eye near the tumor. Known as brachytherapy or plaque therapy, this treatment can require multiple surgeries and can lead to cataracts, retinopathy and loss of vision. The alternative to radiation is surgery to remove the eye.

“I was essentially a biohazard for eight days while the radioactive plaque was on my eye and at the end of that process, the tumor was dead,” said Laabs, who had flown back to the U.S. for treatment in Philadelphia. The treatment left him in remission, but he was unable to regain most of the vision in his right eye.

Aura Biosciences, a Cambridge-based biotech company developing highly tumor targeted breakthrough therapies for rare cancers, is hoping to improve the options for future ocular melanoma patients. The new class of therapies would potentially target and destroy cancer cells selectively, while leaving surrounding tissue unharmed—an approach Aura calls molecular surgery. It would effectively transform the treatment of ocular melanoma into a routine outpatient procedure.

“By enabling physicians to treat cancer more selectively, effectively and safely than they can do today, we aim to eliminate the need for risky procedures that carry significant morbidity and often do little to improve a patient’s overall survival,” said Aura’s Founder and CEO Elisabet de los Pinos. “When you’re focusing on a rare disease and thinking about the limited and highly invasive alternatives out there, it creates an incredible sense of purpose. Everything is aligning at the moment and, if successful, the end product will be extremely meaningful for patients.”

In May, Aura was granted Orphan Disease Designation by the FDA for its lead product candidate, AU-011. The company’s pre-clinical research, ‘Evaluating the in vivo efficacy of a first-in- class drug for the treatment of primary uveal melanoma,’ was delivered that same month by McGill University Health Centre researchers at the 2015 Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting.

“Aura’s novel approach has the potential to dramatically improve the outcomes, and hope, for patients with ocular melanoma,” said Grant Allen, Co- Founder and Chairman of the Ocular Melanoma Foundation. “The Orphan Drug Designation for AU-011 is a huge step forward, enabling Aura to potentially bring this drug to patients in an expedited manner.”

AU-011 consists of a viral-like particle drug conjugate that binds selectively to cancer cells in the eye and upon activation with an ophthalmic laser, the small molecule selectively destroys the membrane of cancer cells, killing them without damaging the adjacent retina.

Aura is in the process of submitting an Investigational New Drug (IND) application to the FDA and is advancing toward clinical testing. De los Pinos hopes to enroll 24 patients in the trial and has 10 hospitals throughout the U.S. lined up as sites. Dr. Evangelos Gragoudas, Director of Retina Service at the Massachusetts Eye and Ear Infirmary of Harvard Medical School, and Dr. Carol Shields at the Wills Eye Hospital in Philadelphia, are serving on the Clinical Advisory Board and helping to guide the clinical development.

Dr. Ivana Kim, Co-Director of the Ocular Melanoma Center at Mass. Eye and Ear, will also participate as one of the investigators in the trial.

“It has the potential to be transformative,” said Kim. “The main benefit would be eliminating some of the side effects of radiation we’re seeing now, such as damage to the retina or optic nerve, that lead to vision loss. I would also love to see it developed into a diagnostic tool, to test borderline lesions that could be treated early. That would be a big step forward.”

As a survivor, Laabs is encouraged by the progress being made and is hopeful he, too, can play a role. Following his experience with ocular melanoma, he founded the Rare Cancer Research Foundation (RCRF) to advance efforts to develop new and better therapies to treat rare cancer patients.

Laabs, who built a successful career in global renewable energy development and solar product
distribution, sold his clean energy finance company, Climate Bridge— which had become one of the largest players in the global carbon markets—to embark on this, a different kind of socially innovative project.

“In remission, I was left with questions of what to do next—really where I could make the greatest positive impact as possible over the course of my lifetime,” said Laabs. “I spent a lot of time thinking, ‘should I work directly in ocular melanoma?’ But all these cancers have common needs, and I realized that I don’t want anyone dying of cancer, no matter what type. So I came to the conclusion that the best use of my time and talent would be to connect with groups doing really important work and help them to do that work more efficiently.”

Working with more than 200 foundations and medical research organizations, RCRF administers the research infrastructure and enables researchers to focus on novel, incremental innovation. The foundation offers solutions for patient registries, tissue samples, cell lines, animal models, and genome sequencing, available to researchers through a single, virtual, integrated platform. The hope is that it will radically accelerate the time-to-market for new, life-saving therapies. At the same time, researchers can reallocate time, money and attention to novel drug development efforts and bringing new therapies to market.

“We’re a supporting player, supplying the tools and the building blocks,” said Laabs. “The most important thing is improving patient quality of life and longevity. To see better patient outcomes, it’s necessary to bring together different groups to solve problems that not one individual group could solve on its own. It’s that collaboration that I would want to see in my own treatment.”

The post A Patient’s Desire to Help appeared first on MassBio.

The Diagnosis

For me, it’s quite fitting that Rare Disease Day happens in February. It is also the month that I developed my rare disease. On February 2, 2004, I entered the hospital to have my thyroid removed. The next day, I left the hospital with a rare disease, hypoparathyroidism. During the surgery, my parathyroid glands were so damaged that they were unable to regain function. Without functioning parathyroids the body is unable to make parathyroid hormone (PTH), which is responsible for calcium regulation in the bloodstream. Without PTH, calcium is eliminated from the body through the kidneys, leaving the blood with very low calcium levels. Calcium is responsible for more than just making strong bones. It is essential to muscle function, including organ muscles like the heart. Hypocacalcemia, or low calcium, causes muscle spasms, cramping, tingling in the extremities, weakness, fatigue, arrhythmias, cognitive impairment, and in extreme cases, full tetany and even death. Only about 1% of thyroidectomies result in hypoparathyroidism. I was one of the “lucky” ones.

Navigating the Unknown

The first five years with the disease were the most difficult. I struggled to find a physician who was knowledgeable about my rare disease. Most doctors I saw knew very little and were content to see me and check lab work just once a year. I was left to learn to manage the disease on my own. I became very keen at sensing when my calcium levels were dropping. I learned what triggers caused a drop in levels, like stress or illness, and I took extra calcium when I felt I needed it. But it was all guesswork. And no matter how much calcium I took, I never felt “normal.” I was constantly fatigued, barely able to keep up with my three young kids, my job, responsibilities in the house. I had no extra energy for socializing or extracurricular activities. I became withdrawn, depressed, and felt very alone.

A Better Way of Living

But at some point, something in me snapped. Something inside me made me look around, see my three kids, and decide that hypoparathyroidism was not going to do me in. I thought, there must be a better way to live with this. I began researching everything I could find on the disease, which, honestly, was not a whole lot. I stumbled upon the Hypoparathyroidism Association through a search engine. It was through this organization that I learned of a new clinical trial for the treatment of hypoparathyroidism about to take place at the National Institutes of Health (NIH) in Bethesda, MD. I decided to take a chance. Within a month I was in Bethesda for my first study visit. The clinical trial changed my life, giving me exactly what I was looking for – a better way of living.

Becoming an Advocate

I spent the next six years in clinical trials. After that first trial at NIH ended I moved into another trial at Mass General Hospital. It was during this time that I started to get involved in advocacy. I had found that better way of living, and I wanted to share it with other hypoparathyroidism patients. I volunteered with the drug company that manufactured my study drug, helping with various outreach and education programs about my rare disease. I began a support page on Facebook for other hypoparathyroidism patients where we could share stories, tips, and encouragement. When my study drug went before the FDA for approval, I traveled to Washington to deliver patient testimony in support of the drug. The drug gained FDA approval and is now commercially available.

Running for Rare Diseases

Last year, I had the chance to get involved with another avenue of bringing awareness to rare diseases. Running for Rare Diseases “is made up of passionate and committed individuals seeking to make a meaningful difference for the rare community.” (http://rarediseases.org/get-involved/join/participate-events/runningteam/) The program matches runners (marathon and half marathon) with rare disease patients so they may collaborate to raise awareness for their specific rare disease, and funds to support the NORD/NIH Undiagnosed Diseases Network (UDN). I was matched with a runner, Amy, who was to run her first marathon, the 2015 Boston Marathon. Through blog posts and fundraisers and social media, Amy and I worked to raise awareness for hypoparathyroidism. Amy trained through the worst winter Boston has ever seen, all the while remaining committed to her goal of raising awareness for a rare disease. The weather on marathon Monday was miserable… cold, rainy, raw. Amy spent six hours on that course, running with my name on her shirt, and completed her first marathon in the name of hypoparathyroidism. It was one of the most selfless acts I had ever witnessed. I was humbled that someone would push herself so far for something that did not invade her own life.

I was so inspired by Amy that I decided to run my first half marathon. Amy was there with a sign, cheering me on. This year I will again run a half marathon, but this time I hope to be part of the Running for Rare Diseases team. Not only is my goal to continue to raise awareness for hypoparathyroidism, but I’m hoping to be matched with another rare disease patient and raise awareness for their disease, as well.

By banding together, we can bring more attention to rare diseases, raise more funds for research, and give all rare disease patients a better way to live.

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A letter from Lindsey to her rare disease. Lindsey is a young woman living with Familial Chylomicronemia Syndrome, a rare genetic disorder in which the body does not break down fats correctly.

Dear FCS,

We sure have been through a lot together and after 25 years, I am still trying to figure you out. You make my life so hard almost every single day. I cannot go an hour without stressing, that because of you, I am going to get pancreatitis. I worry every single day about the symptoms you may bring and also how we are going to work together in the future. I want to children and not have to spend my entire pregnancy in the hospital and I definitely do not want my children to endure what I have had to.

Can you ever give me a break?! I think at this point, I deserve that. I know that I am nowhere near perfect when it comes to eating and I am the first to admit when I over do it. You tolerate those times when those brownies look too great to pass up, but really, I only have a bite and the next day you make me pay for it. In fact, I pay for it for multiple days, sometimes more than a week. The worst part is I have grown so accustomed to feeling so crummy every day that I have forgotten that it isn’t normal. At this age, I should feel so fantastic. You sure have helped me become a great actress because I will fake how I feel every day. I even have my family and closest friends fooled. Faking feeling well is mentally draining and I hate you for being the root of my health problems. You have truly succeeded in exhausting me. What I really don’t understand is even when I eat perfect (under 10 grams of fat, low carbohydrates, high protein, low sugar) how you are still unhappy.   I could eat salad and water and you’d find a way to cause that awful and all too familiar rib cage and scapula pain. I can’t take pain meds 24/7! I have things to do: work, spend time with friends/family…you know, have a normal life. I know you love to make me cancel plans and rest all day but life doesn’t work that way. Please show me some mercy. I am thankful I am not hospitalized as often but I just want to wake up and feel amazing. Please let me feel that way!

I don’t think you’re aware of how scared of you I am. You scare me more than anything because you hold my health in your hands. I have been hospitalized nearly more than 30 times, one attack almost taking my life. I know that I have caused a couple of those attacks with poor choices but the rest is all you. I know you have heard me cry myself to sleep countless nights, felt my anxiety and anger. I feel like I try and treat you so nicely but nothing works. You have caused me to shut down around family and best friend because I am so tired of seeing them worry about me all the time. I have seen what you have to my parents, especially when I was sick every 2 months. You have caused us hell – oh, and getting sick on my dad’s birthday a couple of weeks ago, that was really great. Thanks for that one, we really appreciated celebrating in the ER.

I think one of the worst things is that I don’t feel I have an outlet. When I am feeling really bad, I don’t want to be a burden on anyone. I don’t want people to ever think, “Oh, she feels sick again, she never feels well”. I hate that many people do not understand what it is like living with this disease. If you would not make me feel so bad, this problem would go away!

As much as I want to sit here and tell you how much I despise you, I can’t. Although I strongly dislike you, because of you, I have become so strong, an advocate, independent, incredibly positive.   I know no matter what, you will never stand in my way. At the end of the day, you are a part of me and I hope that as time continues, we can learn to better work with one another instead of against.

Lindsey, a young woman living with FCS (LPLD).

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Chris Anselmo shares his journey with dysferlinopathy, a rare, muscle-weakening disease. 

Be sure to share Chris’ story and join him and other rare disease patients on February 29th at the Massachusetts State House to recognize Rare Disease Day and the research being done in Massachusetts to treat and cure rare disease.

A Rare Diagnosis

It all started with a car accident.

Up until one fateful night in October 2003, I had no reason to think that I was living with a rare disease. For the first 17 years of my life, I was a healthy, active, fully functional high school senior with my eyes set on college and the next chapter in my life.

On that night, my friend was driving me home from the movies, when he became distracted by something he saw in the rear view mirror. For whatever reason, he thought the light had turned green. Seconds later, the car we were driving in was slammed into by a pickup truck traveling 45 miles per hour. Our car was a crumpled wreck, and the entire impact was on the passenger side where I was sitting.

It is a miracle that everyone involved emerged unscathed aside from a few cuts and bruises. It was a traumatic experience on its own, but it paled in comparison to the ordeal that was to come for me. Later that night, while I lay awake in my hospital bed, unable to sleep due to the pain on my right side, a doctor came in with news that would begin my patient journey.

I was in a haze from painkillers, so I don’t remember exactly what the doctor said, but I remember the concern on her face. The blood test I had done when I got to the emergency room came back with astronomically high levels of creatine kinase – a marker of muscle breakdown. Initially, they feared I had suffered some sort of internal injury, but it was ruled out after follow-up tests and I was sent home. Yet, in follow-up visits, the levels didn’t go down as they had initially hoped, which raised a red flag. Something was clearly wrong inside of me.

One year later, after testing for and ruling out liver disease, and after a biopsy of my left thigh, I was finally diagnosed with dysferlinopathy. It was explained to me that I was missing something called “dysferlin” – a protein that, if you don’t have it, eventually leads to muscular dystrophy. I was assured after initial fears that symptoms would not manifest until later in life, when there surely would be some sort of treatment. I was told to follow up with an adult neurology clinic, just to be safe, but it was nothing to be preoccupied with. I asked if I could go to college worry-free, and I was told I could.

Four years passed. I attended Northeastern University in Boston, and had a normal, exhilarating college experience. I was asymptomatic during this time, so naturally I let my guard down. I was naive, but in retrospect I am happy I was. If I fully understood the magnitude of what was to come, I would have been devastated. By May 2008, I had graduated from Northeastern with a degree in marketing. It was then that I began to experience weakness, as if a flip had switched inside my body.

With a muscle-weakening disease, you can tell when things are starting to “go.” You remember these indelible, traumatic events because they are seared into your mind. I’ve seen others refer to them as “milestones,” and unfortunately, it is a fitting metaphor. They stay with you, and no matter how much you want them to, they don’t go away.

Milestones

My first milestone where I knew something was wrong was in late 2008 when I went for a run, turned a corner, and my legs tired out. I thought it was odd, but I didn’t think much of it. A few weeks later I went running again, only I couldn’t make it as far as my previous run. For whatever reason, I didn’t realize that it was because of my disease. I was only 22; it wasn’t supposed to happen until much, much later. I chalked it up as being out of shape, and figured that I just didn’t gain strength as fast because of this missing protein.

My second milestone happened about a year later, when I moved with my college buddies to a three-story house in Boston. I was carrying my desk chair up the stairs and was having great difficulty. I had to stop every few steps to regain my strength and balance. I remember it well, because it was at this point where I began to put the pieces together. I remember the unsettling feeling in my stomach, the joy of moving to a new apartment now replaced by anxiety and fear.

The Fall

A year after moving in I experienced my first fall – by far the most traumatic milestone of my life.

It was a Saturday morning. I was walking to the store with my roommate, took a step, and my right leg gave out, causing me to crumple into a heap on the sidewalk. My roommate stopped and asked if I was OK. I told him I didn’t know, but that was a lie. I knew. The emotional pain that resulted was far worse than the physical pain of scraping my knee.

Falling and the sudden reality that I couldn’t get from Point A to Point B without the possibility of crumbling to the ground turned my world upside down. It affected my outlook on life and my relationships with others. It affected how I perceived my future, my attitude, and my productivity at work. Every facet of my life suffered from this new reality. It was a terrible time.

Since that day, I have fallen countless more times, ruining every pair of jeans I’ve owned because I inevitably tear holes in the knees on the pavement. When I do fall, I need someone to help me, as I no longer have the strength to get back up. I’ve progressed to Lofstrand crutches and have given up going on long walks, which was very tough as I used to love exploring new neighborhoods in Boston. Stairs are my mortal enemy and can’t be navigated. As of the last few months, I can’t get out of chairs (unless it’s a high chair) without someone picking me up under my armpits.

Picking Myself Back Up

This has all been very difficult to deal with, as the dreams I once had for myself as a young adult have been derailed by unrelenting muscle weakness. Despite the trials and setbacks, this disease taught me an invaluable skill – how to pick myself back up. Without learning resilience I would have given up on my future.

One day I had enough. I came to the conclusion that I wasn’t doing myself any good by being miserable and comparing myself to others my age who seemingly had everything. I sought a way to use my experience as a positive. Through sheer determination, a fire was kindled inside of me to make a better life for myself than I would have had without the disease. I sought ways to get involved and make a difference in finding a cure.

I became more involved with the Jain Foundation, an organization dedicated to finding a cure for dysferlinopathy. I was given the opportunity to share my patient story at the International Dysferlin Conference in April 2013, a huge thrill that cultivated my passion for public speaking. From connections made at that conference, I was introduced to three researchers in the Boston area who have family members with muscular dystrophy. In November 2014 we hosted the second annual Strength, Science and Stories of Inspiration fundraiser at the MIT Museum in Cambridge. It brought together stakeholders in the muscle disease community, and I had the opportunity to share my patient story in front of 200 people. It was the most rewarding night of my life.

I still struggle with the effects of my disease. I accept that I am always going to be “day-to-day”, both physically and emotionally. Any time I experience a new milestone, I regress into a funk, but I have risen every time. Although some dreams are unachievable, I haven’t let my disease stop me from dreaming big. After years of shuffling my feet, I returned to school, and am currently an MBA candidate at Boston College, graduating in May. It has been a long, strange, difficult journey. Through continued funding and research, I know that brighter days are ahead.

Dysferlinopathy has given me a clear purpose for what I want to do in life – to use my story to help others. A purpose for living is incredibly powerful, and I know that without this disease, there is no way I would have the ambition and determination I have today. I am beginning to experience the fruits of my struggle (it is about time!), and that has given me great joy. I have my first speaking engagement at a high school in Connecticut in late February, and four days later will be speaking at Rare Disease Day at the Massachusetts State House.

I always think that someday this will all be worth it, but I am starting to realize that day is already here.

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By Meaghan Casey

When Bud Pickard, a dairy farmer in upstate New York, started to feel rundown and achy six years ago, he attributed it to the demands of his job. He was working 12 to 16 hours a day, and physical pains were not out of the ordinary.

But when his physician suggested a total body scan, the results suggested bone cancer—not the diagnosis Pickard wanted to hear just 10 days before Christmas. He was referred to an oncologist for a second opinion and that eventually brought him to Dr. Daniel DeAngelo, Clinical Director of Adult Leukemia Services in the Center for Hematologic Oncology at Dana-Farber Cancer Institute.

DeAngelo ordered a bone marrow biopsy, which revealed the dense accumulation of mast cells—immune cells that produce a variety of mediators, such as histamine, that are important in the body’s allergic responses. Though Pickard’s bones were strong, he had lost 60 percent of his bone marrow. He was then diagnosed with systemic mastocytosis, a disorder in which mast cells are abnormally increased in multiple organs including the bone marrow, skin, gastrointestinal tract, liver and spleen. By this time, Pickard was feeling bloated, had lost weight and both his liver and spleen were enlarged.

Fortunately, DeAngelo had teamed up with Dr. Cem Akin, an allergist and immunologist who leads the Mastocytosis Center at Brigham and Women’s Hospital, a first-of-its-kind center that provides expert multidisciplinary evaluation and treatment for patients from across the country.

“Many cases of mastocytosis are missed, especially early in the disease, leading to a delay in critical treatment,” said Akin.

DeAngelo was the lead investigator on a clinical trial of midostaurin, an investigational therapy designed to inhibit multiple kinases, including one triggered by a genetic mutation found in most patients with systemic mastocytosis.    

Pickard began taking midostaurin in March 2013 and has had success with the drug. His liver and spleen have returned to normal and he has had no side effects.

While stories like Pickard’s show the promise of new targeted therapies in development, the unmet need for systemic mastocytosis, particularly for patients with aggressive disease, remains high. There are still no approved therapies to target the mutated gene found in more than 94 percent of systemic mastocytosis patients. In aggressive cases, the disease compromises organ function and average survival is only three to five years from the time of diagnosis.

Cambridge-based Blueprint Medicines is developing a highly targeted drug for those patients. In September 2015, the company received FDA approval to begin a Phase 1 clinical trial of the drug, called BLU-285, for the treatment of advanced systemic mastocytosis and expects to enroll approximately 60 patients with advanced systemic mastocytosis in the clinical trial.

“BLU-285 is a potent and selective inhibitor of the KIT D816V mutation, the primary driver of disease in more than 94 percent of systemic mastocytosis patients,” said Jeffrey Albers, CEO of Blueprint Medicines. “We’re thrilled to be advancing this drug into clinical trials. All of us at Blueprint Medicines are motivated by the goal of making a difference for patients. We aim to do that by using our deep understanding of the genetic blueprint of cancer and other diseases driven by the abnormal activation of kinases to craft highly selective medicines.”

Pickard, now 73, is in the process of moving to Paxton, Mass. He has been living in Fonda, N.Y. since 1989, maintaining his farm. He is the father of four and credits the support of his wife, Cynthia, and children for helping him through the worst of the disease. Since his diagnosis, he has returned to Boston every three months and is looking forward to a closer commute to the hospitals. “I can’t say enough about the doctors in Boston,” Pickard said. “I’ve been so fortunate to have had their care.”   

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