It must have been 2016. It's around 12 o'clock; I have to give a presentation to the board at 12:30 p.m. A private e-mail has just arrived, the content of which I do not understand; there's still a little time left; so I'm trying to decode the content with the help of Wikipedia. So then I read:

 

'Affected children go blind by the age of 12. Hearing damage also begins during childhood.  Dilated cardiomyopathy  and sudden heart failure can occur in childhood, adolescence, or adulthood. The risk of developing cardiomyopathy in adolescence or adulthood is increased for patients who have had dilated cardiomyopathy since infancy. Other common problems are obesity,  insulin resistance  or  Type 2 diabetes , elevated fat levels - mostly  triglycerides  – in the blood, liver problems, infertility and thyroid problems.'

 

I can no longer remember the presentation to the Executive Board that followed.

 

What was that email? This came from Ben's mom - our son is 9 years old today. It contained the result of a genetic analysis we did after years of 'searching' in hopes of finding out what caused Ben's visual impairment. Since more was found than was actually sought, we got this result by accident...and without explanation.

 

Ben was almost 4 years old at the time. 4 years of searching came to an end. 4 years, that sounds long at first (and of course it is). However, in the case of a rare condition like Alström Syndrome, which Ben suffers from, it is the rule rather than the exception. Rare disease means - not only for an ultra-rare disease like Alström syndrome with a prevalence of 1:1,000,000 - that very few doctors have ever heard of it; and are therefore unable to diagnose them. As with any disease, early diagnosis is important; in the field of rare diseases, however, it can often be vital for survival. Alström is a good example here. Those affected are very often obese; they have no feeling of satiety, are insulin resistant and at risk of type II diabetes. The earlier you recognize the disease, the sooner you can try to control the effects at least a little, at least through exercise and nutrition, but also by raising awareness among those affected.

 

What is it like now when such a diagnosis comes into your life so suddenly? In my case: It changes sustainably - in an amazing and enriching way. You learn to appreciate and enjoy the moment; to emancipate oneself from banal comparisons; but most of all I am learning from a little man what happiness and being happy means. Ben is as good as blind, his hearing ability is (still) at almost 60% and his height is now below the typical height for his age. And that's just the beginning - the years are yet to come when the disease will show its full, terrible face. Despite this, Ben sees himself as 'lucky'; never wants his 'happiest childhood in the world' to end, loves people ('Dad, I like it when there are people around') and starts most days the way he ends them: with a smile.  Ben wants to be a garbage man and plays soccer. He loves to paint; even has his own little website where you can admire his 'works'. Plays the piano (reads Braille with one hand, plays with the other).

 

He gets hearing aids, calls them "Lauschis" and is very proud. The cane made him even prouder, Ben excitedly explaining every detail. Do you get an 'oh my god' reflex when you read it? Why actually...?

 

But what you also learn is a brutal helplessness. As in many other cases, the Alström Syndrome has not yet been properly researched and its consequences have not yet been properly understood. Few cases also mean little empiricism; ie there is almost no information on typical courses. Cure? There are none. therapies? Nothing specific. Holistic care? Not possible. This means that those affected are dependent on their own opportunities to get help. Education, place of residence, language skills, financial framework – all of this determines whether you are able to help your child or yourself.

 

That's the way it is, some people are probably thinking. It's like that for a lot of people; not just for rare diseases. I thought about it for a long time and even when I found out about it with my own child, I accepted for a long time that that's the way it is. But is doing nothing the solution? Is that what makes us human? To give up and always look to others for responsibility?

 

You begin to ask more questions. We live in times that rightly call for equality. You watch your almost blind child as it struggles through everyday life. Without his right to freedom. Without being treated 'equally'. Let's all close our eyes and walk to the supermarket. Alternatively, we get - with closed eyes - a cup of coffee. Do we feel 'free'? Where's the outcry here? Hundreds of millions of people worldwide share this fate.

 

The longer I was allowed to experience Ben with his positive and life-affirming attitude, the greater my own doubts grew as to whether I could continue to pursue my own goals and accept that ultimately nobody cared about Ben - and the many, many "Ben's" in this world . This is of course a very unfair sentence towards all the many people and organizations who fight every day to raise public awareness of rare diseases and who are looking for solutions. But ultimately it was my feeling as a father.

 

So at some point I made the most difficult and at the same time the simplest decision of my life. Quitting my job to 'do something'. Not only to spend more time with my child, but also to work towards structural and systemic improvements.

 

Am I 'just' interested in researching Alström and a 'quick' (a word that's really inappropriate in the context of this topic) help for Ben? No - a few years ago a professor gave me a very painful but valuable tip: never let yourself be guided by the hope that new discoveries or other medical advances will immediately help your child. That would eventually drown you in a 'lake of disappointed hopes'. But to give up and do nothing because of that? We already had that – see above.  

 

My goal is that in the future, illnesses and people affected by illnesses will be dealt with more holistically. You take her by the hand. Your already arduous path is not made even more difficult, but at least some of the burden is relieved. Research, early detection, diagnosis, therapy and life support – combined in one place. Whether Center of Excellence is the right name (this sometimes meets with negative reactions - giving away one's own competencies and bundling them elsewhere is not always desirable...) is irrelevant.

 

The point is that there are facilities (physical or partially virtual) that have an overall view of an illness and take those affected by the hand. As important as specific skills are in the individual areas, it is also important to have someone who understands the overall picture and translates it for those affected. The best engine in the world is of no use if no one can reliably assemble the entire car.

 

One more word about 'life support' – I also understand this to include mental health and social integration or interaction. Unfortunately, a certain social isolation very often accompanies such a disease. Even if those affected were allowed to experience 'normality' at some point; at some point the distance to 'normal' children/people increases. Ensuring that this area is not lost sight of is highly relevant.  

 

This ultimately results in a patient-oriented, diversity-oriented approach to dealing with an illness that is adapted to the individual needs and degree of illness of each patient. This data-driven, future-oriented and sustainable approach is more inclusive, taking into account individual life contexts and styles, disease profiles and care needs.

 

When it comes to rare diseases in particular, you have to pool your strengths, skills and experience. The 'fight' against rare diseases doesn't work on a small scale; it has to be viewed and waged together and globally.

 

"Alström" is not an initiative that tries to arouse sympathy with simple pictures. It is an initiative that strives for long-term improvements - for the benefit of as many people as possible - and Alström wants to be the starting point.

 

Will it work? I don't know - but nothing has been done long enough; and I think it's worth trying to prevent people from finding out about their child's fate on Wikipedia in the future.