What would you do if you were experiencing symptoms but no one could tell you what was wrong? Imagine the agony of going through this situation for days, weeks, months or years, without knowing what is wrong. What would you do?
There are 7000 rare diseases affecting about 350 million people around the world. Sadly, millions of people around the world are facing just this type of predicament. Until the relatively recent advances in DNA technology, many with a rare disease remained undiagnosed. Even now, with the advances that are available for diagnosing the etiology (root cause) of genetic diseases, many still remain undiagnosed. Why is this? There are no straight forward answers to this question.
One possible reason is that in most publicly funded health care systems (UK and much of Europe), it would be quite expensive to conduct every possible test that might narrow down what is causing the symptoms and making a person unwell. Even if all tests could be conducted, it would be difficult to draw conclusions if the tests needed to diagnose the disease were not actually available to the physician or the hospital. Another issue is that in most healthcare systems, a patient must first see a General Practitioner or family doctor. A normal General Practitioner or Family Doctor may not see many patients with a specific rare disease in their life-times, especially if they work outside large population centers. Because of this, someone presenting with unusual symptoms may remain undiagnosed simply because their family doctor has not seen a sufficient number of patients with the presenting symptoms. As a result they would remain undiagnosed. Additionally, a patient with unusual symptoms may be referred to a number of specialists before the right diagnosis is eventually made. This same patient may even commence wrong treatments several times before they are finally correctly diagnosed. Treatment with the wrong medication is one of the worst outcomes that can occur for a patient with a rare disease because treatment for a wrong diagnosis can mask the symptoms of the rare disease. This would further delay the accurate diagnosis of what is wrong. Additionally, treatment with the wrong medicines could cause side effects and adverse events. These could lead to injury, again masking the cause of the illness.
The Rare Diseases Patients First! organization is seeking to provide education to patients with rare diseases about how new treatments are developed, specifically for rare diseases. As part of this, it is crucial that we explain how rare diseases can be diagnosed using the latest technologies. On the 27th of February, Tim McDaniel of TGEN will be speaking to us about the use of state of the art diagnostic techniques to diagnose rare diseases. Tim has first hand experience of how diagnostic techniques were used to diagnose a close family member’s rare disease.
The details for Webinar 002 are as follows:
Date: 27 February 2015
Time: 8 am PST/ 11 am EST (New York time)/ 4 pm GMT (UK time)/ 5 pm Paris
Duration: 1 hour
Who can attend: Patients with a rare disease and parents of children with a rare disease.
Format: The presentation will take place over the internet using a tool called WEBEX that will allow you to connect with the presenters.
Registration for the Webinar link: To take part in this free Webinar, email Dr. Lorna Speid at firstname.lastname@example.org with RDPF! WEBINAR 002 in the subject line. You will then be sent the Webinar login information.
Note: Please note that this Webinar is specifically for patients with a rare disease and parents of children with a rare disease.
Dr. Speid is the author of Clinical Trials: What Patients and Healthy Volunteers Need to Know. This book was published by Oxford University Press in 2010. It was specifically written to educate and empower patients and healthy volunteers within the clinical trial and drug development process.