World Rare Disease Day: A call for earlier diagnosis and treatment

More awareness and funding for research is needed. (

The word “rare” connotes something so unique and scarce that it becomes more valuable. When it comes to rare diseases though, the small patient populations usually means the disease has to fight harder for attention and funding. On World Rare Disease Day, which will be held on Saturday, February 28 this year, patients and their families as well as scientists, physicians and researchers will try to draw more awareness to rare diseases in an effort to improve access to treatment and to drive more research to be done.

Although rarer than say heart disease or breast cancer, these diseases still have a deep impact on people both in our country and worldwide. According to the Center for Orphan Disease Research and Therapy at the University of Pennsylvania, “orphan/rare diseases represent a collection of disorders that affect fewer than 200,000 individuals for any single disease type, yet there are more than 7,000 distinct orphan diseases. In all, over 25 million people in the United States are afflicted by orphan diseases.”

Most rare diseases are genetic and many of them present in early childhood. About 30 percent of children with rare diseases don’t make their fifth birthday.

World Rare Disease Day was started in Europe by EURORDIS in 2008 and is always celebrated on the last day of February each year. Global Genes, Natural Organization for Rare Disorders (NORDIS) and other organizations and foundations participate in different events on this day and through the month of March.

Center for Orphan Disease Research and Therapy

Locally, researchers at the Perelman School of Medicine at the University of Pennsylvania have been studying rare diseases for years. In 2011 the Center for Orphan Disease Research and Therapy was founded through a generous donation. Today they have programs of excellence on inherited forms of blindness, storage diseases, and liver metabolic disorders.

According to Dr. James Wilson, director of the center, many rare diseases start in childhood and most primary doctors and pediatricians are unaware of these diseases. Parents end up going from doctor until doctor until they finally get a diagnosis. In the future, he sees there being more newborn screenings to help identify more of these diseases.

Also a physician, Dr. Wilson got involved in studying rare diseases after working as a graduate student at the University of Michigan with little boys with Duchenne Muscular Dystrophy. “I saw the desperation of the kids and families and we were just studying their gene mutations not offering treatment,” he said.

With Duchenne Muscular Dystrophy, the child, usually a boy, is born with no signs or symptoms then his muscles begin to deteriorate. Eventually he loses all muscles and ability to function. He can’t ambulate and is put on a ventilator. Many of these patients die as teenagers.

A doctor’s passion

Two other rare diseases that Penn doctors and researchers focus on are fibrodysplasia ossificans progressive (FOP) and familial hypercholesterolemia.

Research on FOP, an extremely rare genetic disorder in which soft connective tissue progressively turns to bone, began almost 30 years ago at Penn. In 2006 , they discovered the mutation that causes FOP, and Clementia Pharmaceuticals, Inc. is currently working on a clinical trial for a drug for FOP.

“FOP affects 1 to 2 million people. Symptoms don’t usually present until age 2 to 4 when they begin to have painful swellings on their bodies that look like tumors. Eventually it will affect the upper back, all limbs, the jaw, and by the time they are in their mid-twenties, their bodies are entirely encased in a second skeleton making movement impossible,” Dr. Fred Kaplan, the Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine explained.

Accurate early diagnosis is very important with FOP. “90% of people are misdiagnosed at first. Many pediatricians first think cancer because it looks like a tumor. With this disease misdiagnosis can be very harmful because any kind of surgery even a cancer biopsy can induce inflammation which makes the condition worsen,” he said.

Dr. Daniel Rader, Chief, Division of Translational Medicine and Human Genetics and Director of Preventive Cardiovascular Program at Penn has concentrated his work on familial hypercholesterolemia, a genetic disorder that causes high levels of LDL (low density lipoprotein) cholesterol levels which leads to cardiovascular disease at an earlier age.

He is really surprised at how many people in their 40’s have never gotten their cholesterol checked despite all the emphasis on heart disease. “I am extremely interested in better recognition and early treatment to eliminate early heart disease," he said.

He cautioned that this disease runs in families in a dominant fashion, meaning one parent has it, so if you or anybody in your family has this disease, then the whole family should be screened.

Patient Voices

Working with patient advocacy organizations is also an important part of what the Center does. Patient voices help raise awareness and get better funding for research. “Some of the more common rare diseases have large advocacy groups however the ultra rare disease groups don’t have a voice. They feel disenfranchised,” said Dr. Wilson.

Emily Kramer-Golinkoff, a project manager at the Penn Social Media and Health Innovation Lab, knows the challenges of having an ultra rare disease. She has an aggressive, rare form of cystic fibrosis. She and her family have started their own nonprofit, Emily’s Entourage, to get their voices heard better.

On Penn Medicine’s blog, she said, “On a personal level, although I was initially reluctant to enter the business of vetting and driving research, I quickly learned that if I wanted more research on my rare mutation, it was up to me and my foundation to get it. Nobody had a bigger vested interest in advancing this research than we did, and the reality was, and remains, that I did not have time to wait for research to unfold on its normal timeline.”

Lisa Schill knows the challenges of rare diseases from a parent’s perspective. After a normal pregnancy, she was surprised when her son Max was born in respiratory distress. She only got a glimpse of his face before the doctors whisked him away.

“It took one and half years to get a diagnosis,” she said. “For us, it was a long time, but for most rare diseases, it takes a lot longer.”

It turned out that Max was born with Noonan syndrome, a genetic disorder that according to the Mayo Clinic is characterized by “unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.”

Max was really sick for his first two years, but is in regular kindergarten now and is doing well. He still has to be regularly monitored for complications and his mother gives him a growth hormone, not to necessarily increase his height, but to help strengthen his muscles. She has found that it also gives him more energy and an increase in appetite.

“For me it was so devastating that so many kids are worse off than Max that it was important to give back to the community and advance research. It is so hard to get funding for research and it is needed especially for early stage research and collaboration with different entities,” she said.

Schill participated in the Center’s Million Dollar Bike Ride last year. Individual cyclists ride to raise money for their specific orphan/rare disease foundation, and then the funds raised are matched dollar-for-dollar by philanthropic donations. Monies have gone to fund such projects as a postdoctoral fellow studying familial hypercholesterolemia, evaluating the efficacy and safety of a new drug for congenital hyperinsulinism, and identifying molecular targets for Pitt-Hopkins Syndrome treatments.

To learn how you can get involved in this May’s, Million Dollar Bike Ride, visit the Center for Orphan Disease Research and Therapy.