Speech by Bernard Rindlisbacher primary ciliary dyskinesia sufferer
My name is Bernhard Rindlisbacher but it will be easier for everybody if you just call me Bernhard. I am representing here the international, European patient association for PCD and Kartagener Syndrome with official residence in Germany. I am a family physician and ran my own single-handed practice during 14 years.
I will tell you a few things about myself just as an example of a patient history. It will make clear how important this research and dissemination project will be for us, especially for the younger of our members affected.
I was at the age of 43 (now I am 61) when a colleague of mine, a family physician like myself, took notice during a walk that I had some difficulties breathing when we walked up. As he was at that time working in a clinic for pulmonary rehabilitation he proposed to me to spend one month in their clinic in Davos in the Swiss mountains for rehabilitation. My diagnosis there, as before, was COPD.
So in 1994 I was in a clinic full of pneumologists and nobody thought of PCD. Nobody really cared about clearing my chest from sputum. Yes, I intentionally coughed up this greenish, quite liquid mucus 3 times a day and they found this was totally sufficient. Nobody cared about my bronchial infection either. At this time I could walk up (slowly) on high mountains, 2500 up to 3000 m above sea level.
At about the age of 45 I stopped skiing, the physical exertion was too much, I did not get enough oxygen any more.
At about age 50 when I was for a conference in a holiday resort at 1800 m above sea level I realised that after running up one staircase I got very much out of breath. On a hometrainer during ambulant rehabilitation exercises the oxygen saturation fell below 90% and I got a big oxygen bottle to use during the training at home.
At age 55, when I was hiking in the mountains again, intending to climb up to a mountain at 1700 m, I was hardly able to get further up from the height of 1400 m. I managed to reach the top at 1700 m, but very, very slowly. At this moment I decided to also get a small bottle of oxygen for hiking in the mountains.
By the way I was still diagnosed with COPD at this time. My treating pneumologist in fact once said at this time, that he thought, the reason for my lung disease was a "ciliary problem", but he showed no intention at all to verify this and he gave me the impression that this was not possible or not at all necessary, as it would not change anything concerning my treatment. Even the head of the department of adult pneumology at the university hospital did not recommend to take any steps concerning this suspected "ciliary problem" or "syndrome of immotile cilia".
2½ years ago I finally decided to make a literature search myself concerning these "ciliary problems" and within a quarter of an hour I got an article from 1997 which described my personal medical history from A to Z, starting with the neonatal respiratory distress syndrome which had at this time been interpreted as the consequence of fluid aspiration at birth, - with the bronchiectases diagnosed in childhood already, - the infertility etc. etc. The resulting diagnosis following to this article was PCD! This later was confirmed by further investigations including TEM.
At my current age of 61 I am at the edge of needing constant oxygen supply at home, at 600m above sea level, certainly during the night, because the oxygen saturation is around 87% on average.
Here in Cyprus, at sea level, I am a bit better off. Here the saturation seems to be still above 90%. But nevertheless with only slight exertion I am getting out of breath and you can imagine what this means for my quality of life. I also need inhalations and expectoration sessions if possible every 3 hours.
I come back to the association of patients I am representing and of which I am currently the president. This organisation counts some 180 affected members in Germany, a lot of them children represented by their parents. We also have a few members from Switzerland, one from Croatia and one from Greece. You see, we are open to members from all over Europe. In fact I am also representing several thousands of "potential" members who just do not yet know that their illness has a specific name: primary ciliary dyskinesia.
In the name of this organisation I thank you people for all your efforts in this research and dissemination project to help that medical histories like mine will be different in future.
I think, you are on the right track to achieve this and I think your work is very important.
And thank you for your attention.