FDA approval of Daybue gives the Rett community hope for the future
A columnist reacts to the news of the first approved treatment for Rett syndrome
On my daughter’s birthday on March 10, news of the first-ever treatment for Rett syndrome broke. While it was Cammy’s big day, this was an incredible gift of hope to all of us.
The approval by the U.S. Food and Drug Administration (FDA) of Daybue (trofinetide) — developed by Acadia Pharmaceuticals — is a monumental milestone for the Rett syndrome community, especially considering that approximately 95% of rare diseases do not have an FDA-approved treatment. Daybue is the result of continuous fundraising and highly committed researchers.
In 1999, a researcher named Ruthie Amir discovered the cause of Rett syndrome to be the mutated MECP2 gene. By 2007, researchers had managed to reverse the symptoms of Rett in mice by restoring the expression of MECP2. When Cammy was diagnosed with Rett syndrome in 2011, we participated for a few years in the International Rett Syndrome Foundation’s Natural History Study, which at the time was the most comprehensive study of Rett in the world. Then, in 2014, Cammy was one of 30 girls who participated in a clinical trial for recombinant human insulin-like growth factor 1 (IGF-1). All of this helped to further Rett syndrome research.
Thanks to the trailblazers
Cammy has faced evolving symptoms that affect every aspect of daily living. We understand that in general, no single drug may work for everyone. We will work with Cammy’s physicians to see if Daybue is right for her. We will also encourage members of Cammy’s care team to attend upcoming Daybue webinars.
Anyone who lives with a rare disease or is a caregiver for a loved one understands how stressful it can be when disease management strategies are limited. A few symptoms of Rett syndrome include seizures, loss of speech, inability to walk, breathing issues, and sleep disturbances.
Cammy is unable to walk, talk, and use her hands, and she has profound scoliosis. She uses supplemental oxygen and has a feeding tube. Trying to manage all of these things, plus a few more, is a heavy load to bear. Knowing that the first FDA-approved treatment for Rett is now here makes me hopeful that more therapies will be approved at a quicker rate.
We are eternally grateful for the support of the Rett syndrome community, advocacy groups we have connected with, and companies like Acadia that have invested in treatment research. And all of the families who disrupted their daily routines and sacrificed their time and money to participate in clinical trials are trailblazers.
With our 11th annual Cammy Can’s Cinderella Story fundraiser approaching on April 29, this latest news provides more incentive for folks to donate and be part of history. All proceeds from the event go to the International Rett Syndrome Foundation to continue and accelerate this vital research.
Note: Rett Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Rett Syndrome News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Rett syndrome.
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Beverly Farkas
My daughter age 61 is doing well. She can walk with guidance due to her frequent seizure activity. We always included her in what we did which gave her many friends and a great support to us as parents of a Rett Syndrome daughter. This support gave Martha a feeling of inclusion and felling of love by so many.