The Voice of Rare Disease
Patients in Europe
Ritje & JiePie’s story: multiple system atrophy
Ritje’s husband JiePie passed away from the rare disease multiple system atrophy (MSA) in 2009. Here she tells their story.
It took six years to get a correct diagnosis. Six years to be heard, to find a cure, to find someone who cared.
When confronted with MSA we knew that it was not yet curable. The information we could find through the support group in the UK was at least something to rely on. We started to translate it into Dutch as much as possible and adapted some medical information to fit to our local laws. One neurologist supported us by checking the translation of medical terms.
My husband believed they would find a cure and he pushed his own neurologist to be more active in research. In the meantime, we set up our own support group for patients and medical staff.
In 2008, we urged Belgian MSA patients to participate in DNA tests that are now centralised in the UK, with over 850 samples from MSA patients across Europe.
A short while after this campaign, my beloved husband died on 27 December 2009. JiePie’s brains were donated to his neurologist for research.
I was JiePie’s carer during the years before his death. Since then our association is moving forward to get things done. We don’t wait till ‘official’ rules are implemented because that will take years.
We have set up our own Voluntary Medical Advisory Board so that we can consult doctors on a daily basis and have encouraged medical staff from two major universities to organise bi-monthly consultations with MSA patients. These sessions give us the opportunity to meet a large group of patients all at once, a type of support group. Patients are very happy that they get the chance to meet other patients and get full support from the group. The medical staff take more time to explain things and give the patients and families suggestions. This is a big step forward for our MSA patients and the relationship with the medical staff in general. We hope to expand these consultations to more hospitals.
In 2011, together with our neurologist we organised the first MSA congress for the Belgian Neurologists' Association. Most of these experts do not have enough awareness to detect MSA in the early stages. Over the years, we have represented patients by participating and attending MSA congresses in Europe and the USA.
We continue to advocate, bringing more awareness to MSA and encouraging patients and families to participate in research, mainly by giving blood samples for DNA testing and by donating their loved one’s brain after they pass away so that researchers can work towards finding a cure. We also introduced the ‘JiePie Award for Research’, which is awarded annually to promote research and awareness for MSA.
What I once heard a famous American neurologist ask his colleagues at a conference still echoes true:
“What is the cause of death for your MSA patients?” They answered, “We don’t know; we only follow patients in the early stage (maximum 5 years). After that they are most likely no longer able to come to us, so we don’t know what happens in the end stage.”
It is so true, they don’t know, and they can’t imagine what it is to live with MSA on a daily basis.
Ritje is Chair of the Board of Directors of the Belgian MSA support group, an association that has also created partnerships with MSA associations around Europe.
Connect with Ritje via the MSA online community that she started on RareConnect, the online network for rare disease patients.
Multiple system atrophy (MSA) is a progressive neurological disorder that affects adult men and women. It is caused by degeneration of nerve cells in specific areas of the brain. This cell degeneration causes problems with movement, balance and automatic functions of the body such as bladder control.
It is estimated that MSA affects less than 5 cases per 100,000. It impairs the body's involuntary (autonomic) functions, including blood pressure, heart rate, bladder function and digestion. The condition progresses gradually and eventually leads to death.
World MSA Day is on 3 October – get involved!
Eva Bearryman, Communications Manager, EURORDIS
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