From 11 July to 20 July 2019, the annual MPS therapy week and bi-annual MPS Conference was hosted in Hinterglemm, in the South-East of Salzburg, Austria.
Over the course of those days, individuals affected with mucopolysaccharidoses and similar lysosomal disorders, such as mucolipidoses or alpha-mannosidoses, which all are severe chronic diseases with fatal outcome, gathered to delve into the world of MPS therapy where a therapy does not yet exist.
Introducing the MPS Therapy event
The event longed for by the families and patients commenced on Friday 12 July 2019. In the morning, the newly diagnosed families were introduced to the specific characteristics of the mucopolysaccharide storage diseases and other similar disorders.
They were informed about the different types and symptoms of MPS, why patients look so different but in some ways so similar, along with the genetic inheritance and the pathophysiological mechanism of these diseases. About 80 attendees followed the lectures.
It was also highlighted that over the past year, it was fortunately possible to diagnose some patients at an early age, so families could benefit from information and support of the MPS-Society rather early.
Details of the conference
The main part of the conference started with about 180 participants from all parts of Austria, but also neighbouring countries such as Switzerland and Germany. The topics focused on clinical care and treatment, therapy and clinical trials for future therapies, especially gene therapy and substrate reduction therapies. The newer and more efficient diagnostic procedures for the biochemical or genetic tests was also presented.
Further topics explored included many of the younger and adult patients who are treated by enzyme replacement therapies, the intentions, importance, but also problems of the yearly surveys, and some of the patients and families attending the conference shared their daily life with MPS, along with the challenges, hopes and frustration they experience.
Sophie from Switzerland, a young lady with paraplegia, who was wheelchair bound, shared her story in an incredibly positive way with the aid of her mother about her life with MPS. She is studying, working, playing music and taking part in sports for handicapped persons, all with the use of the newest technologies.
From the medical perspective, a review about the last 35 years was presented. This gave an impressive testimony about the development in diagnostics, knowledge and new therapies in the world of MPS.
It was a great concession and offer of the medical doctors and carers from all parts of Austria, especially from the Medical Universities in Vienna, Graz, and Salzburg, to present the latest news in the MPS field for this special patient’s group.
Throughout the week an increasing number of participants attended from diverse European countries such as Hungary, Romania, Slovenia, Croatia, Bosnia, and Serbia.
An insight into the programme
There was a full program for the body and health, with a total number of 540 therapy units spread across physiotherapy, water therapy, Rolfing, cranio-sacral-therapy, massage, dog assisted therapy, Feldenkrais therapy, nutrition counselling and more.
For the family members and the patients able to take part, Smovey, walking, mountain riding, and dancing was offered, the conference supported the concept of having creative and stimulating hours spent together in a positive atmosphere.
Every hour a medical talk was scheduled which allowed participants to speak with specialists such as paediatricians/geneticist about any problems.
Memorial hour and effective training
Many patients have passed away, with the number of deaths being incredibly high. A memorial hour was scheduled for parents and loved ones who have experienced loss, and was commemorated with harp music, candle lights and biblical stories.
Many parents have lost their children at early stages such as during childhood or early adolescence. In some cases, they were not able to help in acute situations such as allergic reaction, aspiration or unexpected respiratory arrest, therefore, a workshop was included in the programme of the MPS therapy week which was designed to prepare and train parents for this situation.
Upon the second set of training, one of the participating mothers shared that she was already able to help her child successfully based on the training she had undergone – and thanks to this training, she was able to attend the therapy week again with her child.
It is noteworthy to mention, that even during the therapy week, the small number of patients under therapy could get their weekly infusions with enzyme replacement therapies. The well-trained home-care organizations, usually visiting the patients at home, attended the event to provide patients with the required infusions.
Encouraging families to enjoy their time together
Therapy weeks for families and those affected with mucopolysaccharidoses and similar disorders, are often difficult to attend as they typically take place during holiday time, and families find it difficult to enjoy their holiday experiences as the health of the child is always a priority. However the MPS therapy week was not only designed for knowledge sharing of the medical care nature, it also incorporated aspects of family time.
Playing in the evenings, attending the cinema, enjoying music, the hotel-bar, an excursion to Zell/See with a boat trip, the weekly ‘Dorfabend’ in the village with music and regional products and delicacies, and lifts to the nearby mountains, were all wonderful activities participants could enjoy to recover and forget the hard time during the year.
The positive atmosphere is surprising for all people usually not involved in conferences and therapy weeks with these very rare diseases, but this is the goal of the Austrian MPS Society.
This was the reason to invite the responsible persons from Health Europa to get an impression and to make a promotional video highlighting the affected parents, carers, siblings, friends, therapists and medical doctors.
From Sunday 14 until Monday 15 July, Clifford Holt, Lisa Johnson and Stephanie Davies came from the UK to join us and to record their impressions with videos, photos and interviews. It was the second time, that Clifford joined our MPS therapy week and it was again a very good occasion to get the professional help to present the work which is done for MPS.
For more information on Austrian MPS Society please visit: https://www.mps-austria.at/?ihre-spende-hilft-kopie