Not only are rare diseases rare but so is the information about them! If you go on Google and try to find “doctors for rare diseases” or “specialist for rare diseases’ the first result is the NIH (National Institute of Health) website. Sadly, NIH states that there is no list of experts in rare diseases but goes on to give a detailed explanation on how to navigate hundreds of available resources and find the relevant information. Other websites that you see in search results provide variable snippets of information but there is no website where you can get all the information about your rare disease and especially who are the expert doctors for your disease.
In contrast to rare diseases, there are ample websites with all possible information about common, non-serious diseases. Most commonly, websites rank doctors based on either the patient reviews or based on their clinical volume. Unfortunately, patients with rare or serious diseases do not have access to information about expert doctors that specialize in treating their condition.
As a doctor, I have been asked the same question multiple times “How do I find the best doctor for my disease” and majority of these requests come from patients suffering either from rare or serious diseases. I have struggled to give them the right answer based on my limited knowledge of specialists for thousands of diseases out there. Luckily, I am a physician-scientist with experience in handling big data and decided to use my skills to develop a solution that can help answer the question ‘Who is an expert doctor for a particular disease’. Over the last year, it has been a painstaking journey of collecting different databases, cleaning and conditioning the databases, establishing links between 55 billion data points and then developing and refining an algorithm to find an expert doctor for over 4000 diseases. The end result is Xpertdox.com, a website whose mission is to help patients with rare or serious diseases.
Rare diseases, although rare, affect about 5% of world’s population. In the US alone the number of people suffering from rare diseases is somewhere in the range of 25 to 30 million. Definitions of rare diseases vary from country to country. In the U.S. a disease is defined as rare if it affects 1 in 1500 people; in Europe this number is 1 in 2000, and; in Japan it is 1 in every 2500 people. Overall, there are about 7000 rare diseases that have been identified so far. About 350 rare diseases would cover 80% of total population of patients with rare diseases and the rest (about 6700 diseases) affect the rest of the 20% of patients with rare disease. Since a majority of the rare diseases are due to genetic issues, there are many rare diseases that affect less than 5 people in the entire world, for example, there have been only 2 cases of a disease known as ‘Beemer-Ertbruggen syndrome’. On the other hand, rare cardiovascular disease such as ‘Brugada syndrome’ affects about 1/5000 people, not that rare as compared to ‘Beemer-Ertbruggen syndrome’.
XpertDox.com has a database of about 1 million doctors that cover about 5000 diseases and procedures, which includes about 3000 rare diseases so far. We are a data driven search engine and it might be very difficult to find information on the disease for which there is very little or no research done, but we will continue to strengthen our database and keep adding more diseases with each passing day. There is also a link on the website which would ask you to provide us a feedback if you do not find the disease or procedure that you are looking for. Once feedback is provided we will do our very best to prioritize our time and effort in finding the right set of doctors for this request.
In a short period of time, we also plan to introduce forums and use our extensive network in medical fraternity to help answer questions from patients. These forums will also serve as a place where patients can connect together and provide support to each other. The forum will be a mechanism of receiving and then incorporating continuous feedback on our website. Soon after that, we also plan to put in clinical trial information, which will give information to patients about present and past clinical trials for the diseases.
Comments are purely for informational purposes and are not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Disclaimer
I have lymphngomia and I had surgery to remove the part that was in my neck but can’t get medical records because it has been 15 years but I still have it in my chest and the doctors in alaska are trying to push it off as if it was something else wrong with me they are not listening to me and having unless are test that they are trying to do instead of dealing with the problem. Who in Alaska can I go to with the problem I have to take care of it