- How did you first become involved with the mitochondrial disease community and the United Mitochondrial Disease Foundation (UMDF)?
I have been involved in the mitochondrial disease community since 2004 when my first daughter Natalie was diagnosed with a mitochondrial disease a few months after her birth. After the shock of the diagnosis, I was further surprised to be told there was a mitochondrial disease patient group in my hometown of Pittsburgh. Natalie’s journey with mitochondrial disease lasted only a year before it took her life, but the UMDF was such a powerful support mechanism for my family during that time that I knew I wanted to stay involved. More than 15 years later I still am!
- Tell us about the UMDF, its research and network and the work it is doing to support individuals and families living with mitochondrial disease.
The UMDF’s mission is to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are a national patient advocacy group with global reach. Whether it is funding the next generation of mitochondrial disease researchers, hosting an online patient support group or helping to identify patients to participate in a clinical trial – we view all of the activities as mission critical.
- Why is it so important for organisations like the UMDF to support and fund mitochondrial research?
Often with rare disease research, it is hard for scientists to secure funding from traditional large funding agencies like the National Institutes of Health in the US. It is critical that organisations like the UMDF provide seed capital to these researchers so that they can generate sufficient preliminary results to make their applications for larger grant awards more competitive. We aim to advance the best science, no matter where it is being conducted in the world.
- What role do you see the UMDF playing in the fight to improve the quality of life for people with mitochondrial diseases?
A mitochondrial disease patient can have a wide range of symptoms impacting their quality of life. Sometimes these symptoms are relatively mild and chronic, other times they are severe and acute. To aid in the management of these symptoms we need better therapies, and those can only be developed with a better understanding of how the many forms of mitochondrial disease change over time, i.e. natural history. Patient groups like the UMDF can play an important role in collecting quality of life-focused natural history data through patient-populated registries. The UMDF’s recently launched worldwide patient registry, mitoSHARE, will continue to grow in this regard.
- Have you seen a change in awareness of mitochondrial disease since you first became involved in the community?
This is probably one of the biggest changes I’ve seen over the past two decades. There remains a need for greater awareness of mitochondrial disease, but from a scientific standpoint it is now well accepted that maintaining mitochondrial function is central to human health, especially healthy ageing. We have a tremendous opportunity to improve the lives of both mitochondrial disease patients AND the lives of every person on the face of the earth through research on these rare, inherited mitochondrial disorders.
- What are your hopes for the future for the mitochondrial disease community?
For my Natalie some twenty years ago, there was no hope for treatments. For her, a diagnosis of her form of mitochondrial disease was a death sentence. So many others, both before Natalie and since, have suffered this same fate and my hope is that in the coming years we will have many groundbreaking therapies developed to treat mitochondrial disease. Mitochondrial disease is complex and will require many different therapies to address many different types of disease, but the pace of clinical research is accelerating rapidly.
- What advice would you give to patients and families affected by mitochondrial disease?
Take advantage of the UMDF and other wonderful patient groups around the world to learn about mitochondrial disease, connect with other families in a similar situation, and engage in the research process that has the chance to change the lives of all patients living with mitochondrial disease. We are here to help and support!