Speaking to Health Europa, Michaela Weigl, the president of MPS Austria, discusses the society’s work to support people living with mucopolysaccharidoses and to raise awareness of these life-changing diseases.
MPS Austria, the Austrian MPS Society, provides invaluable support to people living with and affected by mucopolysaccharidoses (MPS), a group of rare, inherited, incurable metabolic diseases caused by disorders in the metabolism of the lysosomes of each cell.
The only Austrian charity to work in this area, MPS Austria is committed to offering emotional support to families, raising awareness of these life-changing diseases, and funding and fostering research into potential treatments and cures.
One of its main activities is the annual Therapy Week, during which MPS patients and their families can get together, relax and enjoy themselves – free from the daily troubles of life with MPS. Health Europa Quarterly met with Michaela Weigl, the president of MPS Austria, during this year’s event to find out more about the importance of the week and the progress that has been made since the launch of the society.
How has the landscape of MPS changed since you became involved in the Austrian MPS Society?
My daughter Maria was diagnosed with MPS in 1997 when she was three and a half, and I have been involved in the Austrian MPS Society since then, becoming the president in 1999. During that time the MPS landscape has grown considerably. When Maria was diagnosed there was nothing on the horizon – everybody said there was no cure, no hope, nothing. Now, we have therapies for several different diseases, including MPS I, II, VI and IV, with a therapy for MPS VII awaiting approval in September. That has made a big difference.
Enzyme replacement therapy has had a big impact on patients, although not all of those who receive it improve due to the blood-brain barrier, which remains a challenge.
Unfortunately, not all patients have the option of treatment either. There is nothing available at the moment for MPS III, but a lot of clinical trials are ongoing, and some companies are also now working on gene therapies. In fact, there are so many pharma companies coming along now that it is hard to keep track of who is doing what!
That is one of the reasons why we founded MPS Europe – because we need to share information and the latest knowledge and achievements in science and medicine about early diagnosis, clinical management, interventions, treatment, clinical studies and standards of care for MPS diseases by improving information flow among national MPS societies.
There has also been progress in terms of diagnosis. A few weeks ago, I met a new family who told me that their child’s diagnosis had been done by a normal paediatrician, which is
It is unlikely that all medical trainees will be taught about every rare disease as they go through their education. How, then, can we better incorporate this knowledge into the training of medical professionals so that MPS can be caught earlier?
We need more doctors like Susanne Kircher teaching in universities! The problem is that there are a minimum of 6,000 different rare diseases, maybe even 8,000, and doctors are not able to learn everything. I have spoken to doctors who have told me that they have heard of MPS but were told that they would never see something like it and so it wasn’t important. When Maria was diagnosed, I asked myself, how can it be that the doctor didn’t see it? Now I understand that he had never seen it before.
That’s why we do training activities. In 2015, we held a full training day for paediatricians before a conference, which attracted 50 people, including doctors I had been in contact with previously. The participants received points for attending. That was positive, but the interest could certainly have been better. I invited 600 doctors in the first instance and then another 400, but only 50 turned up.
How important is it to you to involve your family in events and activities like Therapy Week and the wider work of the society?
It is hugely important. I have a vision for Therapy Week and I can’t achieve it alone. I need people who are willing and able to help and who I can trust. With my family, we use to plan the event at home together with my secretary. Most of the other families who come to our events live further away, so they can’t easily be involved in the planning period often they are busy with their sick children and not able to help. There is a lack of volunteers, either, and we can’t necessarily afford to pay more staff. At this point I am happy about my family dedicating themselves to fulfil our vision. That may need to change soon because I’m getting old and the organisation is growing, so I will need someone to take over at least some of the work in the near future!
Could you tell me a little bit more about the events and activities that you do?
Our first event of the year is our MPS winter meeting, which we hold around the Rare Disease Day in February. Rare Disease Day is organised by Pro Rare Austria, the umbrella society for Rare Diseases another organisation that I am involved in as one of the founders and as a board member. That usually attracts about 60-80 members of our society and is a public event.
Our second event is the Mums’ Weekend, which we held for the first time this year. 12 mums joined us for that, and others wanted to but were sadly unable to. Six of the mums who came had lost children to MPS. We had a very nice time together, talking about the challenges we face and how the bereaved mums are dealing with their loss. One lady who lost her son eight years ago said it was the best weekend she had had since her child died, and another asked if we could make it a quarterly event. We stayed in a nice hotel, ate a nice dinner without having to cook, and had a massage, and also went out walking and things like that. It was really nice to have a weekend to ourselves, to be not mums or wives but women.
After that, we took part in the Vienna City Marathon as a fundraising activity. I was the only one of my family not to run, but next year I will! In 2019, we will take part in an inclusion run with our sick children before the other races, and at this point I already have eight starters. I will run with Maria, and I already have eight starters from the MPS families, so we will be a big group. Hopefully we will get on TV! The inclusion run is only 800 metres, so I think most of our patients will be able to do it, although Maria is not sure if she will walk or go on her bike.
In May, we celebrate International MPS Day. Sometimes we go out on the streets or into shopping centres to distribute roses and information on MPS, and we try to speak with people about MPS to raise awareness. I run an awareness campaign on Facebook as well, highlighting different children with MPS and the need for therapy and a cure.
Then of course there is the Therapy Week, which is followed by the peace fleet Mirno More for the children. After that, we have a weekend specially for the dads. We will be arranging that in September for the first time this year, and it will involve mountain biking and hiking. It will be nice for the dads to have an opportunity to spend some time in great company with other MPS dads.
But before that will be the International Symposium on MPS and Related Disorders, which this year takes place in San Diego, USA. Between 800 and 1,000 participants attend, and it is an amazing event. The symposium begins with a combined session for MPS professionals and families, and then the conference divides into two tracks. It is really the best platform for the latest news about MPS because often the things presented there have not yet been published. Unfortunately, no other families want to accompany us this year and neither do any doctors. Flying can be too tiring for the patients, but I will be going with my whole family including my husband Martin, Maria and my other daughter, Anna, as well as my sons Paul, Johannes and Michael, and we can bring home the relevant information to be published in our newsletter to share with other families.
In October, we have a meeting especially for adult patients. That is very special. Sometimes, Susanne joins us to speak to them because they always enjoy hearing from her. The patients can choose what they would like to do. In the past we have been to a bakery, had therapy and been hiking. The main thing is that the patients can meet and talk to each other. They have so much to learn from one another and can exchange tips on how they manage things in their everyday lives – it’s a very helpful weekend. Some adult patients don’t join Therapy Week, because they think it’s for the children, but they do enjoy the adult meeting.
On top of that we have Siblings Week, during which a lot of healthy children attend without their MPS siblings or parents. We call them ‘shadow kids’ because they’re always in the shadow of their siblings, so they often don’t get a lot of attention from their parents and have to be very patient and well-behaved. They can be jealous sometimes and they can also be scared of what might happen to their brothers or sisters. So they enjoy having a week to themselves where they can just be children and have fun. Usually, when the week is over and I have to take them home, they ask if next year we can make it two weeks!
Finally, even before Christmas we still do a lot of activities to raise money – because nothing is possible without money. Sometimes it feels like half of my job is raising money, but I can’t afford to pay for a fundraiser.
What do you feel other MPS societies in Europe can learn from the Austrian MPS Society?
I have invited other countries to Therapy Week in the hope of encouraging them to hold their own.
Societies in other countries are reluctant to set up their own because they can just come to ours. I would like to find a way to change that and encourage them to organise something themselves. I use to have families come to Therapy Week from Bosnia, Hungary, Croatia, the Netherlands, Switzerland, Ireland, Germany, Serbia and Romania, so hopefully they can take what we do and build their own version, like only Germany did so far. If they start small, I am sure they can manage it. Children love this week, they learn a lot from it, and they improve because of it.
Are rare diseases such as MPS sufficiently supported at the policy level? How would you like to see support for rare diseases improve in Europe?
It has certainly improved a lot already, some of which has been down to the Austrian MPS Society. Some years ago, Maria and I met with the Austrian chancellor Wolfgang Schüssel, who promised to help us. It was the same year that Austria held the Presidency of the Council of the European Union, so he was able to take it to the European Commission. We organised a conference in Brussels alongside my brilliant colleague from the English MPS Society, Christine Lavery, and 30 people were invited. We gave a presentation on MPS as an example of a rare disease and explained the challenges we face and the help we need.
As a result, in 2007, rare diseases were included in the EU research and innovation framework programme for the first time. Since then, scientists have been able to apply for EU funding for research in rare diseases, which is really good news. They have got a lot of money from this, and some are now working on the blood-brain barrier, for example, which is the main reason that enzyme replacement therapy doesn’t work for the brain in case of neurological involvement.
Afterwards, the commission began to encourage countries to come up with their own national plans for rare diseases. That took a long time to happen in Austria, but we now have a national plan for rare diseases, which regulates a lot of things – from ambulances to centres for rare diseases.
There is still a long way to go, but we have made a good start. Expert centres have been established in many countries. The designation process is amazing, but we need more people to get involved so that more centres can be designated. At the moment only six can be designated a year, if we are lucky, and that is not enough.
What are your hopes for the future of the Austrian MPS Society?
My main hope for the future of the society is that there will be a future! I hope someone will be able to take over the society and that we will be able to do a lot more for patients and to raise a lot more money to support scientists. I also hope we will be able to hire a fundraiser so that I can spend more time with the families and better respond to their personal needs. They need help day to day and not just events. They need someone to go to their child’s school when they have problems with the teacher, or to help them apply for social support and insurance, etc. Anna is providing a lot of that support at the moment, but I would like to organise a kind of advocacy group to do that, as the English MPS Society has. But we need more money first.
This article will appear in Health Europa Quarterly issue 6, which will be published in August, 2018