Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. She shares her insights, findings and thoughts via her @oligogirl Twitter account. See below the overview of November 2022.
Prof. Aartsma-Rus reads and comments on the paper titled: The Role of Associations in Reducing the Emotional and Financial Impact on Parents Caring for Children with Duchenne Muscular Dystrophy.
Today’s pick is from MDPIOpenAccess environmental research and public health on a cross cultural study to assess the role of patient associations on supporting families with Duchenne in Spain and Mexico by Rodriguez et al. Doi 10.3390/ijerph191912334
Duchenne is a rare severely progressive disease characterized by the loss of muscle function. Having a Duchenne patient in a family results in an emotional and financial burden. Policies to support rare disease patients and families are being implemented globally
However in some countries these policies were more recent than others (e.g. later in Mexico than in Spain). Furthermore, these policies and support mechanisms generally do not cover all the costs and needs of patient care.
Authors compared Duchenne parent caregiver experiences in Mexico (34) and Spain (40). In Mexico care is not supported by the government but by associations, while in Spain healthcare is free through the government (in principle).
There are some differences between the caregivers: e.g. in Mexico only mothers participated, while in Spain both mothers and fathers participated. In Spain more of the participants were married and employed than in Mexico. The age of caregiver participants was in the 40s mostly
Most caregivers had 2 children and Duchenne boy were 13-14 years old. Both Spanish & Mexican caregivers indicated there were significant costs involved with Duchenne – this was for (co)paying for assistive devices, but also due to loss of income to care for a son rather than work
Interestingly the burdens from Spanish caregivers were significantly higher than those of Mexican caregivers: more symptoms of the caregivers, lower life satisfaction and quality of life, more hours spent on care (44 vs 35 per week – a lot for both groups).
Also the financial impact in Spain was higher. Authors discuss that the financial and social impact was high for both groups, but higher in Spain. One reason could be that while healthcare is free it is also fragmented in Spain, resulting in many hospital visits.
In Mexico healthcare costs are paid by associations, who have set up a multidisciplinary visit, so patients need to attend clinics less frequently. Due to the higher burden in Spain, it is not surprising quality of life is lower and more caregivers experience symptoms themselves.
Authors discuss that in future studies a gender effect needs to be studied – they also elaborate on the cultural role of the mother (and father) in different countries. They stress how much families appreciate a multidisciplinary approach reducing burden for families.
Finally, they say more work is need to study this longer term but also to study the psychosocial impacts on caregivers in more detail to offer tailored support. As this is not my area of expertise, I cannot provide too much critical feedback.
However, reading the paper makes me appreciate caregivers of Duchenne patients (and other rare disease patients) even more. The time commitment (equating a normal workweek on top of everything else) and the general commitment are humbling.
Very important to offer them the support they need and to do this proactively as they themselves will likely be too busy caring to ask for it.
Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).
Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.
In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences (KNAW), which consists of what are considered the top 50 scientists in the Netherlands under 45. From 2015 to 2022, she was selected as the most influential scientist in Duchenne muscular dystrophy by Expertscape.