Alan Finglas, founder of MSD Action Foundation and Saving Dylan, contemplates EU policy and the potential it has to open the gates for real change in the rare disease community
After attending the 10th European Conference on Rare Diseases & Orphan Products (ECRD) in May, Alan Finglas founder and research manager of MSD Action Foundation and SavingDylan.com explains his hopes and fears in the coming years of how EU policy will shape the rare disease landscape and the importance it will play in driving change. Alan is concerned how things will look in the next five to 10 years unless huge improvements are made and how he has been inspired to write about two priority items that he feels must be delivered in order to drive real change for the rare disease community.
I sometimes think of the landscape in the rare disease space when my son was diagnosed five years ago, where we are today and where we might be in the next five to 10 years’ time. This gives me a complete mixture of emotions. Positive things have been achieved but we must do much, much, more.
Attending ECRD 2020
The European Rare Disease Conference (ERDC) was held online on 14th and 15th May 2020. It was the largest online conference that I have participated in. It was a positive experience overall and I am encouraged that in the next six months Eurordis plan to pull together their medium to long term EU policy strategies for rare diseases. I think we are all agreed that changing EU policy on rare diseases is very essential work. I would like to take this opportunity to thank Eurordis, the European Reference Networks (ERN’s) that cover rare diseases and every patient advocate that works towards change for patients and their families that are affected.
Multiple sulfatase deficiency:
Is a complex, inherited disorder caused by a genetic mutation. The condition results in the dysfunction of specialised proteins known as enzymes responsible for the breakdown of certain sugars and fats in the body. As a result, these sugar and fat molecules accumulate to toxic levels in many of the body’s tissues and organ systems, especially the central nervous and skeletal systems. Because the disease affects different children at many different stages, multiple sulfatase deficiency is often classified as “neonatal,” “late-infantile,” or “juvenile.” Multiple sulfatase deficiency is one of about 50 diseases classified as lysosomal storage disorders (LSD).
Source: Boston Children's Hospital
EU policies are required to open the gates for real change in rare disease
I do fear how things will look in five to 10 years if we fail to make these huge improvements that ultimately help patients and their families. I would hate to be in a situation, looking back, saying “we could and should have done so much better.”
This inspired me to write about two priority items that I feel we must deliver on. There are many other particularly important EU policy changes required but I believe the following are crucial to open the gates for real change for the rare disease community:
1. An EU policy goal should be: To ensure that European countries must have a clear implementation plan and budget for their National Rare Disease Plans (NRDP). No half measures should be acceptable. This can mean that we will have a real chance of not leaving anyone behind.
2. An EU policy goal should be that every country, at the very least, must have a rare disease: Contact Registry (no sensitive data or clinical data). These should be run and kept updated by health ministries via their National Rare Disease Office. They should be heavily promoted by healthcare professionals in every hospital. When there is a rare disease diagnosis, enrolment should become a natural thing to promote.
If everyone believes we will achieve!
About Alan, MSD Action Foundation and SavingDylan.com
Alan is the research manager and founder of MSD Action Foundation and is working to accelerate research on MSD by supporting a pipeline of research that is showing great promise in supporting potential treatments and meaningful research advancements on MSD.
MSD Action Foundation and SavingDylan.com were established in 2015 by Dylan’s parents Alan and Michelle Finglas with the help of some wonderful volunteers and board members. The foundation aims to promote and support research advancements that will lead to improvements in clinical outcomes, life expectancy and quality of life for patients suffering from multiple sulfatase deficiency.
Rare Revolution Editor