I met Isa and Doru Tudorache several years ago when their son Peter was diagnosed with Duchenne. Isa and Doru were given the ‘no hope and no help’ diagnosis. Isa asked what she could do and as sometimes happens, the stars lined up exactly right. The Duchenne Parent Project (Italy) meeting was just a few weeks away. I introduced Isa and Doru to Filippo, and met them in Italy. They were no longer alone. Today, Peter is 12, still walking, which is not typical for boys with Duchenne muscular dystrophy living in Romania.
Some years later, I met Andreea Vasiliu, a physician from Romania asking me about diagnosis and treatment for Duchenne. Her son Robert (now 7) received the same diagnosis as Peter. Both of these families connected to the Duchenne community, received guidance about diagnosis, about care, about hope. Lori Ware connected with Andreea and recommended she bring Robert to the neuromuscular center at Cincinnati Childrens’ and Lori did not stop with the simple recommendation. Rather, Lori started asking for help, from other families, from her church, from foundations, navigating systems to ensure that the Vasiliu family would find hope. Lori's efforts resulted in a $10,000 payment to Cincinnati Children’s for diagnosis and evaluation for Robert.
The Tudorache and Vasiliu family joined the Duchenne muscular community and in joining, recognized that they had to give back, had to work to bring hope for other families in Romania. They started to connect with other families in Romania, listening to stories about the odyssey of diagnosis, therapeutic nihilism, lack of information, lack of hope. They listened to stories about vulnerability – taking life savings, borrowing money to investigate stem cells in Russia, supplements suggesting benefit, alternative treatments, often finding no benefit, and depleting precious resources.
In Romania, only 20% +/- have access to internet. Diagnosis is difficult, genetic testing may take years, and then may not be complete. There is no interdisciplinary care and little possibility of joining the stage for clinical trials.
These families aggressively developed links with the Duchenne community, initiated communications with Treat-NMD, and started a patient self-report registry. And this last weekend, they held their first conference on Duchenne muscular dystrophy. The first day was dedicated to clinicians – physicians from across Romania participated in the meeting, discussing molecular diagnosis, standards of care, gaps in care, and clinical trials. On Friday morning, Isa opened, welcoming over 70 families, as well as, pediatricians, neurologists, and specialists. Jas Rahbeck (Aarhus, Denmark) discussed working with a multi-disciplinary team and young men living long and quality lives with Duchenne muscular dystrophy. Thomas Sejersen (Stockholm, Sweden) summarized the international care guidelines and explained the family-friendly version, a tool for families to share with their physicians. Ulla Werlauff (Aarhus, Denmark) discussed the importance of physiotherapy and Annemieke Aartsma-rus (Leiden, Netherlands) did what she does best – talked about research, strategies in development and in trial, opportunities for clinical studies and clinical trials, possibilities, and hope.
Dana Craiu and colleagues (Bucharest, Romania) provided an outline of interdisciplinary care, a mirror of the international recommendations. The best part will be to see this outline become a reality for families in Romania. I am certain Parent Project Romania, working as equal partners with physicians, will find a way.
Filippo Buccella (Rome, Italy) and I spoke about advocacy and the need for registries, the need to participate in the global community and how our connections would result in change, acceleration of therapies, and boys in Romania with the diagnosis of Duchenne, no longer receiving or accepting the ‘no hope and no hope’ approach. That approach was yesterday and is unacceptable today.
Virginia Bizzarri (Rome, Italy) was the final presentation, discussing the psychological aspects – how to speak with your son about Duchenne, why it is essential to say Duchenne muscular dystrophy out loud, and how to encourage independence.
Parents stood up, talked about experiences with delayed diagnosis, inability to access good care, vulnerability –how difficult it is to want to buy supplements, try alternative treatments (often using life savings or scant precious resources), and how they ‘lean’ on the community to provide information and guidance.
I thought back to 1994, how we had those same challenges and how we have moved forward as a community. It is now time for Romanian families.