Children are the population mostly affected by rare diseases. Half of them begin at childhood. On average, from symptoms to diagnosis, 4.8 years go by until a rare diagnosis is made. A 1/3 of those children will not live to see their fifth birthday. Delayed diagnostic processes contribute to that situation directly.
We may find a remarkable example of the delay in the diagnostic process in the USA Fabry Diseases Register analysis, published in "Genetics in Medicine" on November 2009. Fabry disease is a rare, X-linked metabolic disorder caused by insufﬁcient activity of the lysosomal enzyme alpha -galactosidase A. This leads to the progressive accumulation of glycolipids with terminal alpha-galactosidic linkages in different tissues and eventually impairs organ function.
The early symptoms of Fabry disease, include neuropathic pain in the extremities, increased sweating, and gastrointestinal symptoms such as abdominal pain and food intolerance. It typically begins during childhood. Later in life, many patients develop life-threatening disease manifestations, including chronic renal disease, cardiovascular disease, and strokes.
Because males with Fabry diseases have only one X chromosome in which the affected gene is found, life expectance is considerably shortened in male patients. Before renal dialysis and renal transplants became widely available, the average age of death amongst males with Fabry disease was reported as 41–42 year.
The increased availability of renal replacement therapy over the past several decades has extended the lifespan of Fabry patients. However, according to the USA Register dates collected as of August 2008, the life expectancy of males with Fabry disease was 58.2 years, compared with 74.7 years in the general population of the United States. But what was even more remarkable, is that 75 male patients that died, were diagnosed at a much older age. The median age at their diagnosis was 40 vs. 24 years in survived males.
In my previous blog, we have seen that the life span of a diagnosed patient directly effects the disease's prevalence.
Acceleration of the diagnostic process is the key to changing the way we look at orphan diseases. The sooner the patients are diagnosed with a disorder, the longer they live. According to that, the prevalence of this disease in the population increases. Amazingly, this can change the prevalence to an extant where some diseases will no longer fall into the "rare disease" category. This is crucial to help change policies of health systems and industries like pharma towards these patients. Therefore, there is a true need for a new diagnostic technique that will accelerate the diagnostic process.
That is why I have developed a free diagnostic tool for physicians that will shorten the diagnostic process of orphan illnesses. It is a called NDC Medicine. The website is an online medical diagnosis system for doctors worldwide. They collaborate in a unique form in order to diagnose patients with difficult-to-solve cases. The diagnosis website allows doctors to present patients with unusual medical symptoms, have an online medical consultation with each other, and receive or give diagnostic assumptions. It even connects them with an expert medical center that provides the necessary diagnostic test for the patient. NDC Medicine's diagnostic technique is based on the great power of medical crowdsourcing. Furthermore, it allows to detect doctors with a diagnostic talent and reward them.
In my next blog I will uncover how the common diagnostic method of physicians is inevitably failing rare diagnostics, and why a new collaborative method is the key to succeed in accelerating the diagnostic process.