The Slovakian connection

I’ve just finished an amazing day here in Slovakia, which has been a powerhouse of AKU study for the past 60 years. I did a presentation about AKU to a large group of university students this morning at the Slovak Academy of Sciences and to all the rheumatologists this afternoon at their national conference.

When I asked the students – all of them natural science students – who had studied AKU before, most hands went up. When I asked the rheumatologists who had seen AKU patients, again many hands went up.

How different to the situation elsewhere in the world!

Slovakia has more than 200 patients. They started studying AKU here in 1951, with their first book on AKU coming out five years later, in 1956. They carried out a major newborn screening programme in the late 1970s and identified more than 100. Reading their reports from the time, I’m struck at how advanced they were in their understanding of AKU.

There are a number of theories why there are so many AKU patients in Slovakia. It could be because they originally came from the same tribal mountainous area, and hence consanguinity is high. It could also be because they have been studying AKU for so long here that they have, over time, identified lots of patients in a systematic manner. This latter explanation would mean that AKU patients are generally under-reported – which is something I also believe.

We’re very fortunate to have someone here in Slovakia who is driving the AKU project forward with impressive drive. She’s called Dr Andrea Zatkova and now runs the global AKU gene mutation database.  Andrea is based at the Slovak Academy of Sciences and has networked with all the AKU clinicians here to accelerate things.

Which is why I’m so excited to be visiting tomorrow the brand new National Centre for Alkaptonuria and Ochronosis, housed at the National Institute for Rheumatic Diseases under the leadership of Prof J Rovensky and Prof V Bosak. It was launched in December, yet they’ve already got a register of 90 patients, two of whom we will be meeting tomorrow.

Indeed, our next objective is to set up the AKU Society Slovakia. The patients here will be crucial to help us drive our quest for a treatment.

So what’s the relevance for other rare disease patient groups? A few things:

1. Are there any hotspots where your disease is more prevalent?
2. If so, do you have links with researchers and patients there?
3. What can you learn from these hotspots that are relevant to your wider movement?

The Slovakian connection

I’ve just finished an amazing day here in Slovakia, which has been a powerhouse of AKU study for the past 60 years. I did a presentation about AKU to 40 university students this morning at the Slovak Academy of Sciences and to 50 rheumatologists this afternoon at their national conference.

When I asked the students – all of them natural science students – which of them had studied AKU before, most hands went up. When I asked the rheumatologists which of them had seen AKU patients, again many hands went up.

How different to the situation elsewhere in the world!

Slovakia has more than 200 patients. They started studying AKU here in 1951, with their first book on AKU coming out five years later, in 1956. They carried out a major newborn screening programme in the late 1970s and identified more than 100. Reading their reports from the time, I’m struck at how advanced they were in their understanding of AKU. Many of the questions they were asking then, we’re still asking now.

There are a number of theories why there are so many AKU patients in Slovakia. It could be because they originally came from the same tribal mountainous area, and hence consanguinity is high. It could also be because they have been studying AKU for so long here that they have, over time, identified lots of patients in a systematic manner. This latter explanation would mean that AKU patients are generally under-reported – which is something I also believe.

We’re very fortunate to have someone here in Slovakia who is driving the AKU project forward with impressive drive. She’s called Dr Andrea Zatkova and now runs the global AKU gene mutation database.  Andrea is based at the Slovak Academy of Sciences and has networked with all the AKU clinicians here to accelerate things.

Which is why I’m so excited to be visiting tomorrow the brand new National Centre for Alkaptonuria and Ochronosis, housed at the National Institute for Rheumatic Diseases under the leadership of Prof J Rovensky and Prof V Bosak. It was launched in December, yet they’ve already got a register of 90 patients, two of whom we will be meeting tomorrow.

Indeed, our next objective is to set up the AKU Society Slovakia. The patients here will be crucial to help us drive our quest for a treatment.

So what’s the relevance for other rare disease patient groups? A few things:

1. Are there any hotspots where your disease is more prevalent?
2. If so, do you have links with researchers and patients there?
3. What can you learn from these hotspots that are relevant to your wider movement?