- When did Sam first start experiencing symptoms and how long did it take for him to be diagnosed?
Sam was first diagnosed with mitochondrial disease when he was 14 years old (2014) after examining a muscle biopsy from his thigh. Around the age of 12, he started to develop clear symptoms, which manifested themselves in both growth- and weight retardation. Later, he presented with ptosis (a drooping eyelid). It was at that point in time that a doctor thought Sam could be suffering from a mitochondrial disease. It took about two years to get to the official diagnosis.
- How has Sam’s diagnosis impacted your lives and what are some coping mechanisms you have developed to manage the disease?
When Sam was diagnosed, we searched the internet for information about the disease. I shouldn’t have done that since there was a lot of information about how the disease could possibly develop itself. At first, I thought that my child could not grow old. As a layman, you cannot filter this information. Along the way, I found out that every individual has a different disease course, ranging from mild to severe disease symptoms. Sam had to look for his own limits. He had to decide what was possible for him and how to divide his energy. As a mother, I didn’t limit him. He had to find out for himself what felt good. He defines his own limits in terms of his energy levels, although this was and still is a quest. When he has crossed his limits, he learns from this, so that he will do it differently next time. For example, playing football for too long and not being able to walk the next day. Sam now notices while playing football that he has reached his limit and then stops earlier. He also complained about physical discomfort from standing too long during his educational programme for becoming a cook. Therefore, he has stopped with this programme and is now looking for a profession where he can switch between sitting and standing.
3. What kind of treatment has Sam received since being diagnosed?
Sam is being treated in the Radboud University Medical Center, Nijmegen, Netherlands, by a specialised doctor and a multidisciplinary team with the aim of monitoring and anticipating Sam’s wellbeing. Once in a while, Sam gets the mitochondrial routine check-up, meaning a week in the hospital filled with tests. After another week, when the results have been discussed within the multi-disciplinary meeting, it becomes clear whether potential treatments should be started. This could be both physical treatment as well as requesting aids like an adapted bicycle or office chair.
- How has the mitochondrial disease community supported you and your family?
The care and support from the hospital is great. They are always there for us and the line to them is very short. We are very satisfied with this. We feel like we are being heard and they offer us tremendous support. We are also members of patient groups, but we do not have close contact with them. Personally, all the suffering makes me very sad. Especially since it’s a such rare disease in which every individual case can be so different from one another, it is difficult for Sam to meet someone with similar complaints. At the moment, Sam is not feeling the need to get in touch with other patients.
- Why do you think it is important to raise awareness of mitochondrial diseases through campaigns like Rare Disease Day and Mitochondrial Disease Awareness Week?
It is important to map mitochondrial disease in our society because people are not that familiar with this group of diseases because of their rarity. When more is known about mitochondrial disease, people will also be able to show a better understanding, which would be a great help for mitochondrial disease patients. Being tired is a difficult concept to truly understand for many people. They often think: “Well, I’m also often tired myself”. Campaigning is essential to create awareness for this target group. Additionally, these campaigns can be conducted to help raise money for mitochondrial medicine research and development.
- What are your hopes for the future for the mitochondrial disease community?
Hope is now pinned on finding a drug that can significantly improve the quality of life for mitochondrial disease patients. I hope that in the future, no one has to die from mitochondrial disease. That is my greatest wish. I also hope that this target group can live a healthy life filled with energy and joy. That they may reach all their goals and fulfill all their wishes.
- What advice would you give to other families affected by mitochondrial disease?
Think in terms of possibilities. Think about what is still possible rather than what is no longer possible. Rethinking is important for quality of life. Have a positive attitude to life, because negativity brings you nowhere. If you have a goal in mind, go for it! But above all: Enjoy life and each other!