Rare Health Exchange Newsletter

Transcription

1 Rare Health Exchange Newsletter Boler-Parseghian Center for Rare and Neglected Diseases University of Notre Dame College of Science August 2015 Volume 2 Issue 1 Notre Dame Students learn about rare diseases through patient/family/clinician interactions Notre Dame Students spent an engaging evening with a local family whose child/grandchild has a rare disease called Neurofibromatosis, Type 1. Students interacted with the family and learned important aspects of the disease to include the variability of presentation of symptoms, how this family has coped with the disease and where they sought support and treatment locally. The child s pediatrician presented information as to the difficulty diagnosing Neurofibromatosis Type 1 and the approach they take when caring for rare disease patients in their clinics. Currently, the Rare Health Exchange is conducting a natural history study of the course of the disease to better understand the progression in patients. Researchers within the Boler Parseghian Center for Rare and Neglected Diseases are also working with a local family affected by an extremely rare form of NF1. This family met with CRND, RareND club, and a group of pre-medical students to discuss the nature of this case and the importance of raising awareness about rare conditions.

2 What is Neurofibromatosis Type 1? Neurofibromatosis 1 (NF1), also called Von Recklinghausen s disease, is a rare inherited condition that occurs in approximately 1 in 4,000 live births. It affects many different systems in the body, but it primarily targets the skin, the nervous system, and the eyes. The most common symptoms of this disease are light brown skin spots also called café au laits, freckling in abnormal places, colored nodules on the eyes (lisch nodules), and benign tumors (neurofibromas) on the nerves or skin. In some cases, the tumor growth may penetrate the nerves, causing pain or discomfort. Patients with NF1 typically experience their first symptoms in childhood. Since the disorder is progressive, the symptoms become more pronounced as the patient ages. Currently, there is no treatment or cure for the disease except to address individual symptoms. For example, people with NF1 may choose to undergo surgery to remove large or troublesome neurofibromas. Café Au Lait Lisch Nodules The National Institutes of Health have developed a clinical criteria list for Neurofibromatosis Type 1 in order to assist clinicians with diagnosing the disease. For more information about Neurofibromatosis Type 1, visit the National Organization of Rare Disorders,

3 The RareND Club Activities The RareND Club is in its second year as an official University of Notre Dame Club. It raises awareness about rare diseases through informational meetings, community outreach, fundraisers, and campus events! The club is open to any student interested in helping raise awareness and recognizing rare diseases. Congratulations! Thanks to the work of the RareND student club, the State of Indiana now proclaims February 28th, 2015 as Rare Disease Day. This proclamation can be renewed yearly and is a great way for the club to raise awareness about rare disease throughout our community Notre Dame s RareND Fundraiser at Five Guys Restaurant Tuesday, April 28, 2015, the RareND club gathered for dinner at Five Guys on Eddy St. Commons. As part of this organized activity, the restaurant donated a percentage of its profits from that day to the club. Events such as this are to raise awareness among ND students and the community at large for rare diseases. To learn more about other great events, check out the RareND Facebook page! If you would like more information at about becoming a member of the RareND club or are interested in attending any of their events, Go to their Facebook page or contact bcalhoun@nd.edu

4 CRND Celebrates Rare Disease Day 2015 by: Jayme Russell The Boler-Parseghian Center for Rare and Neglected Diseases recently held a two-day Rare Disease Symposium (February 13-14) and invited researchers, patients, families, physicians, and advocacy groups to speak about their personal experiences with rare diseases. The symposium anticipated Rare Disease Day, recognized worldwide on the last day of February. Organized by Barbara Calhoun, nurse practitioner and outreach coordinator for the Boler-Parseghian Center, the event featured research presentations as well as discussion panels focused on patient experiences. Because there are roughly 7,000 rare diseases, diagnosis usually takes about 5-7 years and treatments are uncommon or even nonexistent. These diseases are emotionally hard to cope with, so it is important for patients and families to find others who struggle with the same illnesses for support. Students from the RareND Club played a big part in the symposium. Many members of the club are students who have personal experience with rare diseases and those who wish to pursue careers in healthcare. The RareND Club organized a quiz, which was answered through texts from the audience, to demonstrate the difficulty in diagnosis of rare diseases.

5 Dr. Elizabeth Berry-Kravis, a clinician researcher at Rush University and Notre Dame alumna, spoke about her work exploring delivery of an experimental drug to patients suffering from Niemann-Pick Type C (NPC) disease, a devastating neurodegenerative disorder. Following her talk, Dr. Berry-Kravis joined families of the patients under her care in a panel, where they discussed with the audience the challenges of caring for someone with a rare disease and the hopes for a cure. In addition, Karen Quandt, a nurse, advocate and NPC mother spoke about helping clinicians better diagnose the disease. Local pediatrician Dr. Carol Luzzi presented information on the differences she has seen in children who have rare neurological versus behavioral disorders. She focused on the nuances of diagnosis and shared patient success stories.

6 Other presentations and panels featured a number of Notre Dame Students. Bernie Grey, alumnus 14 and master s candidate in mathematics, spoke about his own experience with Common Variable Immune Deficiency. Two computer science majors Dan McCormack and Bradley Stalcup discussed how they are applying their work with databases to aid in diagnosis and management of rare diseases. If you would like to learn more about the Rare Health Exchange, please visit our website