Rare Disease Day


The actuality of today is marked with Rare Disease Day. If you look at the number of places where events are organized to collect monies to finance in depth research this must be a very important topic.

The national programs in e.g. Germany to deal with patients with chronic rare diseases ranging from home and clinical care to data collection and research shows this group has the attention. I would say this is not without reason.

Not so rare

The numbers are scary. A disease is called rare if less than 5 in 10,000 in a population suffer from it. People have calculated there are in between 7,000 and 8,000 different rare diseases. In Germany, with a population of about 75 million, there are more than 4 million patients suffering from rare diseases. That is an astonishing number: 5% of the German population (and even 10% worldwide) suffers from a chronic disease, require constant care of some form and in most cases have no hope for recovery.

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10% of the world population has a rare disease. So the attention is more than justified from both a patient and a national concern perspective. What is still undervalued is the economical justification to deal with this in the industry. To compare, I have not seen a massive movement to collect monies to deal with depression or anxiety. This ‘market’ appears big enough (10% of the world’s population) to warrant massive investments and test programs.

If we analyze the total group of rare diseases from that angle, it is the same size as this psychiatric disease market. I would say this should be more than significant from a suffering, care -and- economical perspective.

Precision medicine

The big difference between this psychiatric disease group and the rare disease group seems that the latter is much more fragmented. The question is if this is really true. I remember a conversation with a scientist in Leiden who explained to me that a specific constellation of a genetic mutation determines the effective dosage of specific antidepressants for a patient. If this mutation is not tested then a patient, by simply following protocol, would get a dosage which is far too high, rendering the person dysfunctional. Seems great for the drug supply chain, but is really bad for patients and society.

I know this is not the only example as both the ‘type’ of medication and the ‘right dosage’ in this area is usually established in the field using trial and error. I judge this to be a clear case, which indicates that precision medicine should not stop at diagnosis and treatment selection but include tuning of dosage as well. There is lots of room for improvement.

Many more rare diseases

Leaving this little detour, the point we arrive at is that the field of seemingly blockbuster medicine is in fact fragmented under the surface. The power to obtain or demand the exact numbers of this fragmentation lies with insurance companies, governments and bottom line: ‘the people’ who both suffer and (as usual) pay the bill.

With the introduction of precision medicine, we are set to cross the bridge to smaller and more accurately defined groups. To me this plainly means that ‘every disease becomes a rare disease’, and we must find a way to deal with the fragmentation of patients, physicians and data for ALL those diseases.

Praise rare disease care workers

And here, the people working in the field of rare diseases have a head start. They know how to work with the fragmentation of specialists, care, patients and data. This is not easy, lacking consistent methods, language and semantics to observe and communicate. Quite often internal motivation by compassion has driven the people working in the field of rare diseases to find solutions with the single goal to improve quality of life of people who suffer. I’ve never seen economical forces achieve the resilience and perseverance stemming from such empathy.

I’d say that precision medicine makes these people our leaders. This is exactly what we need. They have gained the experience against the odds and are now competent to educate others how to organize, how to sustain and how to care. I really commend them for what they have done and continue to do. If our spark within lights like theirs, we are good to go.

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