Cambridge Biomarketing invited 8 people, and 4 parents of young children, with Pyruvate Kinase Deficiency to attend a board meeting in London, from the 15th till the 17th of May 2015. The same kind of meeting was also held in Texas, USA at the end of 2014. The goal of the meeting was to inform Agios pharmaceuticals about the impact that PKD has on daily living of all people that are affected by this disease.
Most of the people had never met anyone with PKD before and so the Board meeting became a very emotional rollercoaster full of recognising stories and support. First on the agenda was sharing each ones personal timeline, showing how Pyruvate Kinase Deficiency played a role in the lives of each member through the years.
The stories were very similar, but also very different in details. What became very clear, is that doctors still aren’t well informed about PKD and the knowledge of the medical world is not always up to date. There seems to be no defined treatment that is given to patients with PKD. To receive the right care, fully depends on the willingness from the pediatrician/hematologist to find answers and information.
Some people of PKD seemed hardly affected by the disease, while others were very limited in their energy levels and possibilities. It was special to see how PKD affects us all in a different way and it was interesting to think about what could cause the differences between all of us. Besides the physical effects of PKD, there clearly is a big psychological drain on each and every one of the people, family included. Also each phase of life leads to different challenges and for all people with PKD, the power of survival and being normal and fitting are a big challenge.
For parents of a child with PKD, the journey how to balance a sick child in a normal world, next to the fact that there is little information about the disease seems very difficult. The parents found support in the stories of the people with PKD, but also found it confronting to see how it could be for their child when growing up.
Besides the stories of the members, there was also a paediatric haematologist from Kings College Hospital that informed us about the illness. Again we could conclude that the medical world has lots of answers, but there is still a lot unknown about PKD. In the end, there was a discussion about how each person dealt with difficult situations so that we could help parents and other PKD-creatures.
We hope that Agios Pharmaceuticals will keep on investing in developing a medicine to treat PKD and to keep working on informing the medical world about what PKD really means for people. All members of the board meeting were very thankful to Cambridge Biomarketing and Agios pharmaceuticals to give us the chance to participate in the road to more knowledge about Pyruvate Kinase Deficiency.