BAG3 P209L Mutation

Currently there are about 20 children in the world with the ultra-rare heterozygous BAG3 P209L c.626C>T mutation. It causes an uncommon form of severe neuromuscular disorder - myofibrillar myopathy 6 (MFM6). The course of the disease is characterized by onset in the first decade of rapidly progressive muscle weakness associated with cardiomyopathy, polyneuropathy, respiratory insufficiency during adolescence, skeletal deformities related to muscle weakness and a rigid spine in some patients. Such children get tired quickly and begin to have trouble walking due to contracture of the achilles tendons resulting in walking on tiptoes.

Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair because of rapidly progressing motor and respiratory failure.

Foundation's Mission

The Foundation's mission is to provide help and support for children born with the BAG3 P209L mutation. We are in touch with the American Alexander's Way Foundation and parents around the world to exchange experiences and ideas on how to help our children maintain good mobility, improve everyday functioning and make them to be with us as long as possible.

The ultimate goal of the Foundation is to develop a therapy that stops the progression of the disease and restores proper muscle function. Working on this requires advanced and expensive scientific research as well as extensive knowledge of the functioning of skeletal and cardiac muscle cells.

If you want to help us financially, check support options.

Who are we?

We are the family of ten-year-old Krzyś. Together with other families, we are looking for a cure for our sick children.
The Foundation we have established is a non-profit organization. Its primary task is to raise funds, and then organize and finance scientific research aimed at discovering a medicine that would extend the lives of our children.
An additional activity is the provision of all kinds of support to sick children and their families.

Statutory goals of the Foundation

The aim of the Foundation is to act in the field of health protection, consisting in saving the lives of sick people and acting to improve their health, as well as acting in favor of health promotion and health prevention.
The Foundation pursues its goals by:
- financial and material support for institutions whose task is to conduct activities in the scope consistent with the purpose of the Foundation
- providing social assistance in the field of saving lives or improving health in the form of material, financial or health and rehabilitation services, as well as in the form of organizational assistance to people whose cases are of a special nature, in accordance with the rules applicable at the Foundation
- conducting medical programs and indirectly or directly financing scientific research related to the Foundation's goal
- granting scholarships and prizes for people involved in the implementation of the Foundation's goal, as well as organizing and financing conferences and seminars in the field of this goal
- cooperation with government authorities and non-governmental organizations in the scope listed in the Foundation's objectives.

The Foundation may conduct business activity to the extent necessary to achieve its objectives.
The subject of the Foundation's economic activity is determined by the Foundation's Management Board.
The Foundation may join companies, foundations, associations and social formations.

Registration data