Insights into the economic impact of Sanfilippo syndrome
Sanfilippo syndrome is a rare and fatal disease with no current treatment or cure. It not only affects the person diagnosed and their family, but also their broader community and the whole of society.
Dr Frederick Ashby, Prof Coy Heldermon, and their colleagues at the University of Florida have attempted to put a dollar figure on this impact through a health economics analysis of the burden of Sanfilippo on society in the US. Their results have been released in a pre-print publication (awaiting peer review) and were also presented by Dr Ashby at Cure Sanfilippo Foundation’s ADVANCE 2023 conference. The data highlights, for the first time, the huge economic impact of Sanfilippo syndrome, providing a case for greater investment in research into the disease.
While we all know that the impact of Sanfilippo on quality of life for individuals and their families is enormous, it can be challenging to put a figure on what this means for society. This type of health economics research needs to consider many factors including the impact on the health of the individual and their use of healthcare and services, but also the health, psychological and employment impacts on parents and caregivers who often provide round-the-clock care and work reduced hours.
These impacts are traditionally quantified using a calculation known as Disability Adjusted Life Years, or DALYs. DALYs takes into account the years of life lost from early death and the years lived with a disability or ill-health, compared to a typical healthy life. For parents, DALYs can also include psychological impacts.
The data from the study indicate that the years of life lost per person diagnosed with Sanfilippo syndrome can vary between males and females and depending on subtype, and ranges between 53 and 58 DALYs lost compared to the average US population.
The research team also used data from a Netherlands study that found an increase in a parent’s likelihood of developing depression, anxiety (for mothers only), and PTSD if they have a child with Sanfilippo. The team calculated that these effects amounted to 2.08 DALYs lost in fathers and 4.40 DALYs lost in mothers in the US.
Considering the years lived with disability and early death for individuals with Sanfilippo, the mental health impacts, lost wages due to caregiving, and considering the current standard of care, it was estimated that Sanfilippo would lead to an economic impact over the next 20 years in the US of $1.55 billion in present value (2023).
When considering the economic impacts per family affected, Sanfilippo causes between $4.54 and $5.61 million present value in DALYs lost for both the child and their parents, depending on the Sanfilippo syndrome subtype. It is also estimated to cost a present value of $0.89 and $1.32 million in lost wages per family. If a cure for Sanfilippo was available, this burden could potentially be reduced.
These are likely conservative values, as the family’s costs of medical care and other direct costs to the family were not included in the study, and these costs can be considerable.
We know that for families, the benefits of restoring a healthy life for their children cannot be measured in dollars. However, the results of this study are essential to highlight, to governments and society, the economic value of investing in finding a cure.
While more studies are needed to build on this new data, Dr Cara O’Neill, Chief Science Officer and Co-Founder of Cure Sanfilippo Foundation, said: “This is a really important piece of research for advocacy which not only turns attention to the great need in this disease space but also to the huge impact that access to an approved therapy for Sanfilippo will bring.”
“There is a lot of bias and presumption that rare diseases don’t really affect society as a whole quite as much as, say, diabetes or stroke,” notes Dr Ashby when presenting the team’s results at ADVANCE 2023. “But as is the case with many of these rare diseases, the burden can be very high.”
Discovering a cure for people with Sanfilippo will take time and money. But, as Dr Ashby rightly said: “Not investing in Sanfilippo syndrome also has a cost.”
Cure Sanfilippo Foundation (USA) hosted the virtual ADVANCE 2023 Conference on the 29-30 August 2023, and the on-demand recordings, including Dr Ashby’s talk, are available to watch here.