When I started, treatment for TSC was holding somebody’s hand and saying, ‘We really don’t know what will happen next,’” she said. “Today there are treatments to improve the quality of life. It’s pretty incredible.
Bethesda, MD (PRWEB) October 02, 2013
Katheryn Elibri, whose 7-year-old daughter has a rare genetic disease known as CDKL5 and has seizures almost daily, helped begin a foundation to fund research for a cure. Other parents—like Lisa Schill, whose 4-year-old son, Max, was diagnosed with Noonan syndrome—fight for years to get a sick child diagnosed.
“It felt like an eternity,” Schill said of the 1½ years it took to find out why Max had debilitating heart, lung and gastrointestinal problems. “We need to educate our doctors more about these diseases so diagnosis won’t take that long. Getting Max diagnosed helped save his life.”
Elibri and Schill will join other patient advocates, including Utah’s assistant attorney general, in a panel discussion at the U.S. Conference on Rare Diseases and Orphan Products on Oct. 7 from 9:45 to 11:15 a.m. at the Bethesda North Marriott Hotel & Conference Center in Bethesda, Md. Hosted by DIA and the National Organization for Rare Disorders, patient advocates with inspiring stories will discuss the challenges of diagnosing a rare disease and finding and accessing treatments.
It has been 30 years since Congress passed the Orphan Drug Act, which provides tax incentives to pharmaceutical companies to develop therapies for rare diseases and also streamlined the regulatory approval process for those “orphan drugs.”
Yet those advocating for patients of rare diseases still find themselves on a rocky road to access much-needed treatments.
Elibri’s daughter, Kiera, had uncontrollable epilepsy when she was just 8 weeks old. She was diagnosed with CDKL5, a rare genetic disease that can cause early onset seizures and severe neurodevelopmental impairment. Elibri needed answers. The Dexter, Mich., mother and physician helped start an organization that funds research to find a cure for CDKL5. Recently, researchers created different cell lines with mutations of the CDKL5 genetic pathways—clearing the way to find treatments.
Getting an accurate diagnosis
When Schill, of Williamstown, N.J., gave birth to Max, she knew that something was wrong.
“Max’s profile was different than my other boys; wide-spaced eyes and low-set ears,” said the mother of three.
For the next 1½ years, Max was in and out of the hospital with debilitating heart, lung and gastrointestinal developmental conditions—yet doctors could not figure out what was wrong. Finally, his metabolic specialist suggested that his facial characteristics might provide a clue to his sickness. Genetic testing revealed that Max had Noonan syndrome. The syndrome affects about 1 in 2,000 births yet is hard to diagnose because of the varying types and severity of symptoms, which can include heart defects, bleeding problems and skeletal malformations, and mild, often-undiagnosed developmental issues, such as short stature.
Schill co-founded the Noonan Syndrome Foundation in 2011 to provide a better quality of life for people and families living with the genetic mutation and lead the way to effective treatments. The organization has developed diagnoses and treatment guidelines for physicians with the help of a research program at Boston Children’s Hospital. The guidelines will be available in November on TeamNoonan.org.
Max, now 4, has benefited from growth hormones, and is a budding artist in preschool.
Assuring patient access to appropriate treatment
In September, Kari Luther Rosbeck, president and CEO of the Tuberous Sclerosis Alliance, announced new guidelines for physicians to care for those who have tuberous sclerosis complex (TSC), a genetic disorder that causes tumors to form on vital organs. The guidelines, a product of the organization’s 2012 International TSC Consensus Conference, are a milestone in getting patients the proper care they need.
Rosbeck, of Silver Spring, Md., joined the organization in 2001. She lost her daughter in 1994 to sudden infant death syndrome, and wanted to help other families facing a disease. She has led the organization’s Unlock the Cure program, which awards grants to labs to review drugs as possible treatments.
“When I started, treatment for TSC was holding somebody’s hand and saying, ‘We really don’t know what will happen next,’” she said. “Today there are treatments to improve the quality of life. It’s pretty incredible.”
Strengthening one’s ability to be a self-advocate
Unable to move his limbs from a rare neuromuscular disease that had not a single treatment available, Steve Mikita knew at a young age he would never be able to run and jump like other children. Yet he also knew what his father told him: He could exercise his mind. Throughout his life, this disease has never stopped the man who became Utah’s assistant attorney general from working on behalf of every person struggling with a rare disease.
Now 57, Mikita is believed to be one of the oldest living individuals with spinal muscular atrophy. Mikita is a patient representative for the federal Clinical Trials Transformation Initiative, a public-private partnership that brings together thought leaders and decision-makers who are dedicated to increasing the quality and efficiency of clinical trials. He promotes the importance of including patient insight throughout all phases of drug development and approval.
NORD is a nonprofit organization established in 1983 by leaders of rare-disease patient organizations to represent all Americans affected by rare diseases. NORD provides programs of advocacy, education, research and patient/family services. It works closely with its approximately 200 member organizations representing people with specific rare diseases. NORD has offices in Washington, D.C.; Danbury, Conn.; and Boston. Learn more about NORD at http://www.rarediseases.org. Follow NORD on LinkedIn, Twitter, YouTube and Facebook.
DIA is a neutral, global, professional and member-driven association of nearly 18,000 professionals involved in the discovery, development and life cycle management of pharmaceuticals, biotechnology, medical devices and related health care products. Through our international educational offerings and myriad networking opportunities, DIA provides a global forum for knowledge exchange that fosters the innovation of products, technologies and services to improve health and well-being worldwide. Headquarters are in Horsham, Pa., USA, with offices in Basel, Switzerland; Tokyo, Japan; Mumbai, India; Beijing, China; Washington, D.C.; and Latin America. Visit our website at http://www.diahome.org and follow DIA at: LinkedIn, Twitter, YouTube, Facebook, Flickr and Pinterest.