Rare Disease Patient Families Push for Critical Research

According to a story from Star Tribune, Chelsea Coenraads was 14 months old when her mother Monica became convinced that something seriously wrong with her daughter. She had failed to start walking and while she briefly began saying her first word (‘duck’), she soon stopped speaking. Before long, the family received a major diagnosis: a rare disease called Rett syndrome. Monica is just one of many whose lives were impacted by rare diseases and have committed themselves as research advocates.

Creating Momentum

A combined lack of awareness in the medical field and among the general public, as well as little profit incentive for most drug companies, means that rare diseases of all kinds often lag far behind in important research. In many cases, the families and parents of patients, such as Monica, have led the charge in getting rare disease research off the ground. Monica, age 57, founded the Rett Syndrome Research Trust. Through this initiative, she was able to raise an impressive $70 million. However, money alone does not a new drug make. It take special effort to understand the research and drug development process and a lot of effort to convince scientists and companies to get on board.

A Life of Dedication

36 year old Sonia Vallabh will develop a rare disorder called Gerstmann-Sträussler-Scheinker syndrome (GSS), which killed her mother at age 52. Though she went to school to become a lawyer, she began to take night classes at the Harvard Extension School so she could understand her disorder. Vallabh and her partner Eric Minikel became research technicians and were getting ready to conduct a drug test when the COVID-19 pandemic hit, which put their plans on pause.

There are countless stories like these that surround the rare disease community. In many cases, progress is only made as a desperate act of love in an attempt to save a family member or another loved one. These acts of love often reverberate to change the lives of thousands of rare patients for the better.


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