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Oct 25 Oct 25 CAPHC Breakfast Symposium - Sponsored by Alexion - Dr. Alison Haynes
- 1. RARE DISEASES Approximately 7,000 rare diseases identified 1 in 12 Canadians has a rare disorder Canadian Organization for Rare Diseases
- 2. COMMON DISEASES RARE DISEASE MEDICAL EDUCATION PATIENT FAMILY PHYSICIAN SPECIALIST DIAGNOSIS MANAGEMENT PATIENTIDENTIFICATION / RESEARCH FAMILY PHYSICIAN SPECIALIST IDENTIFICATION / RESEARCH DIAGNOSIS MANAGEMENT MEDICAL EDUCATION
- 3. RARE DISEASES Challenges Access to specialists Awareness of disorders Misdiagnosis Delayed time to diagnosis Availability of therapeutics Prognostic information
- 4. RARE DISEASES Advances Patient registries Genetic screening Clinical research Education Improved early detection Canadian Organization for Rare Diseases
Hinweis der Redaktion
- It is reported that there are 7000 rare diseases identified in the world currently These disorders are individually are but collectively1 in 12 Canadians have a rare disorder
- I would like to highlight how a patient with a common medical disease will typically move through the health care system compared to a patient with a rare disease. As an allergist / clinical immunologist I see patients with both common and rare disease. I will use the example of food allergy for the common disease. At this point, a lot is known about food allergies from previous descriptions of patient presentations and prior research. Because so much is known about food allergies, it generally is a straight forward diagnosis to make. During medical training, health care professionals are taught about the common way that patients can present with well known and described medical conditions. For example, we are all taught that patients with food allergy present with skin, breathing, stomach and blood pressure issues When a patient presents to a health care professional with symptoms of hives and difficulty breathing after eating a food, it is often quickly recognized that the patient has a food allergy Often food allergy and other common diseases are quickly identified by their family physician who may choose to then send to a specialist As a specialist, the patient history and access to the appropriate testing confirms the diagnosis There are well established guidelines on how to treat and manage food allergies. For the most part, patients transition through these steps rather seamlessly. This compares to a patient with a rare disease where the order of steps to reach a diagnosis is often different and can be associated with challenges along the way I will use the example of a family that I follow with a newly described primary immunodeficiency. Rare diseases often starts with the patient because they maybe the first diagnosed with this condition and therefore there may be minimal to no information on their particular condition. The family that I follow is to siblings and a cousin. These young boys, all under the age of 5 had numerous visits to the ER and GP for recurrent infections that were not responsive to standard antibiotic treatment. The family physician then referred to the pediatrician for further assessment. From previous training and medical knowledge, the pediatrician was suspicious of a PID given the recurrent, severe and persistent nature of the infections. The families were assessed by an immunology team, who specialized in PID. At this point in time, there were no immunologist in their province so they were referred to HSC. The immunology team were also very suspicious of PID but were unable to come up with a particular diagnosis based in the clinical presentation and testing available. This is were bench to bedside research is critical for the diagnosis and management of these patients. In a research lab, using samples from the patient and family members of the patients, the team was able to identify a mutation resulting in a deficiency in RelB which is critical in the functioning of the immune system. There are no established guidelines or previous experience with such a condition. Based on their significant history it was decided to treat these patient with a BMT which a a standard treatment for patients with other PID. 4 years later, these patients are thriving and have had a significant reduction in infections and improved quality of life. These 3 young boys are the first in the world to be identified and this mutation is now added to the long list of defects. There cases were published in peer review journals and since this time their has been two other children with this particular mutation identified. As more patient are diagnosed, this will hopefully result in better characterization of this disease improved management of such patients
- There are certainly challenged when it comes to diagnosing rare disorders. Access to the right specialist is a road block for some patients. In the family I presented, an immunologist was not in the province of NL at that time so the family had to travel to Ontario. Many programs are training specialists with the goal of servicing all centers across the country Many health care providers may not be aware that certain rare diseases exist. If your primary care physician or specialist is not aware that a particular condition exists, then the diagnosis is never going to be made. This is where medical education, research and effective translation of information is essential Many patients with rare disorders are misdiagnosed because again if the health care physician is not aware of the condition then the diagnosis is not going to be made. Many patients with rare disorders area assessed by multiple physicians and have multiple diagnosis before the correct diagnosis is made. These frequent specialist appointments and misdiagnosis leads to delayed time to diagnosis. I follow patients with hereditary angioedema which is a condition with recurrent swelling. My latest patient first presented with symptoms at the age of 12 years old but was diagnosed at age 22 with a 10 year delay. For some patients with rare disease, prompt diagnosis is key because some of these conditions are life threatening For some rare diseases therapies may not exist because little to no information is known about the pathophysiology of the condition. Also, based on funding and health canada, not all therapeutics may be offered in the country One thing that my patients find difficult is that there is little info we can provided them about what to expect in the future or prognosis. For example, my patients with milk allergy, I am able to tell the families that based on all the other patients with milk allergy in the world and published research, approximately 80% will outgrow the allergy. For my patients who are the first to be diagnosed with RelB mutation, I am unable to give them that same kind of information because it does not exist
- Patient registries are very important to help describe patients with rare disease. With such registries, common clinical presentation, key investigations and best management practices can be established. In the immunology community, there is a registry called C PRIMES which aims to enroll all patients with PID Genetic screening has lead to huge advances in diagnosing rare conditions and certainly has been a huge asset in the field of immunology. New advances such as whole exome or whole genome sequencing are able to identify new mutations not previously described As we discover and describe more rare diseases, centers of excellence can be established. In larger centers, it is not uncommon for health care providers such as physicians to focus on a research a particular medical condition. With so few patients with some of these rare disorders, centers of excellence is imperative A big role of these centers of excellence and clinical research is to disseminate their knowledge and findings to the rest of the medical community. These patients are going to present to their GP or general specialist before they will research these highly specialized centers Early detection can be life saving for some rare diseases and many can be fatal if not treated promptly. One example in immunology is the NBS of SCID which is diagnosing patients without an immune system at birth so they can be transplanted before they develop life threatening infections And lastly, organizations such as CORD are paramount to advocate on behalf of patients for proper access, diagnosis and management