More than 200 people attended the 2007 Annual Meeting of the German HSP self-help group in May, making it the world’s largest gathering of HSPers ever.
“Our meetings get bigger and more interesting! I am glad to be here” explained a woman who had traveled from Cologne. Intensive conversations between guests were the norm as people began arriving on the Friday afternoon, exchanging news and sharing individual experiences.
Lothar Riehl gave the welcoming speech in the evening. “It is a great success for all HSPers, that this is our third annual meeting. By itself the numbers show how much interest there is in HSP”. Lothar said that the personal conversations with the speakers and with other HSPers will be the highlights of the meeting. Over dinner people engaged with the speakers to address pressing questions and to start a good exchange of ideas.
The first speaker, Dr. Stephan Klebe, from the university clinic in Kiel is one of a group of researchers who discovered genes that can cause HSP. He provided a background on diagnosis and therapy fundamentals.
With high expectations, people heard from Dr. Schuele on the GeNeMove project in which a gene chip compares a patient’s DNA sample with all known mutations of 7 genes, then selects the causal mutation. A large number of patients have participated in the trial and Dr. Schule provided a positive insight into the results so far. She also gave an overview of the short and medium-term prospects for the technology which got the audience’s close attention.
Dr. Henning Stolze, Head of the Diako Clinic in Flensburg, then addressed the topic of Baclofen treatment for spasticity. He presented the positives and negatives of Baclofen tablets and the Baclofen pump. His conclusion was that the pump is preferred ahead of the tablets.
President of the German HSP group, Rudolf Kleinsorge, then spoke about the drug PTC124 which could become a valuable therapy for the 15-20% of HSPers who have a nonsense mutation as it is showing good results with 2 other genetic diseases caused by nonsense mutations.
Over lunch people said that they understood more about the pump. Many were less concerned about risks and will visit their doctors again. Others who had previously decided not to get a gene test are now keen to find their mutation using GeNeMove, especially those who may have a nonsense mutation.
The afternoon started with an address on physiotherapy and Botox in treating spasticity by Prof. Wissel, Head of the Rehab Clinic at Beelitz. He made it clear that Botox therapy has value only when the muscles are worked intensively following the Botox injection. This enables the active agent to reach its place of work and to develop its beneficial effect on spasticity there. The therapists, Mrs. Guenzler and Mr. Boemer, from the Rehaklinik Beelitz described the physiotherapy exercises successfully used on the muscles of three patients – Anni Wanger, Henry Wahlig and Andreas Grüter. Prof. Wissel thanked the physiotherapists and patients for their part in the success of this work.
A DVD capturing the exercises has been produced by Joost de Haas (the Netherlands) and is recommended to all HSPers. The sale of these DVDs will be carried out via the Tom-Wahlig foundation.
Much gratitude for it is due to Dr. Wahlig and the board of trustees of the foundation. It is further recommended that HSPers share the DVD with their physiotherapist to ensure therapy and exercises are carried out properly. It was emphasised that the therapy is lasting and leads to real improvement only if the exercises are regularly done purposefully and properly at home.
There was high interest in all the open discussions.
In the discussion on medicines, participants recognized that the optimal dosage and type of medication required can be different for different people. It is important for patients to tell their doctors of their experiences with medications and also to exchange experiences and knowledge in the use of the different medicines with each other.
HSPers can track their own responses to the progress of HSP and understand the development of HSP in their bodies over time. The discussion included fear about the degenerative progress of HSP and that strategies for living with the illness and personally dealing with the symptoms can be developed.
In the discussion group on HSP research, it was recognized how multilayered and how intensively in many countries in the world researchers are working on HSP. Only in the last few years have gene mutations been identified. Now a major focus of the research effort is on cell biology to better understand the workings and consequences of the mutations within cells. Only if these consequences are better understood and if the tasks of the cell components changed by the gene mutation become known, can a therapy be developed. It has recently been realized that many gene products like spastin and atlastin have a transport function in the cell. Research scientists are using mainly genetically changed animal models, and so results need to be replicated in humans before therapies can be declared successful. The participation of HSPers in studies is therefore compellingly necessary.
The presentation on cars modified for handicapped people and the open discussion attracted a lot of interest. Changing cars represents a difficult hurdle for many HSPers. The discussion recognized a lot of possibilities and requirements for HSPers to be able to drive themselves happily and safely. An outcome of this discussion worth noting is that there are a multiplicity of technologies which can be installed in your own car resulting in personal flexibility largely remaining unchanged.
It is already a tradition of the nationwide annual meetings that Dr. Tom Wahlig give the closing address. He asked Professor Stephan Sigrist to present individual projects of the foundation and their importance for HSPers. Of special interest therefore were long-term perspectives for children and grand children. The audience thanked Dr. Wahlig for his untiring effort with extended applause.
In thanking the speakers, Peter Thiele spoke again and again about the commitment of the advisers and the cooperation of participants at the meeting. “In this way”, Peter explained “we set a good foundation for a healthy future”. In his conclusion, Lothar Riehl summarized the results and outlined the future activities of the group. Lothar also thanked the advisers who were given a long round of applause. I
It’s again worth noting that we can achieve a lot of things as long as we work together because: TOGETHER WE ARE STRONG!
Conversations in the evening rounded off a successful weekend in a relaxed atmosphere. The evening was characterized by joy, by curiosity, by laughter of pleasant people. “We are sure that we will come to our meeting next year. I already know now that I will speak on the phone to some new acquaintances in the coming weeks. We will probably also visit them” was the personal summary of a participant from Sachsen-Anhalt. “This weekend was a win-weekend for me”.
(Translation courtesy of Rudolf Kleinsorge)
Readers are reminded that the above is the best attempt translation and to check with a specialist before drawing any conclusions especially from comments on medication or diagnosis.