Acadia got FDA approval for a new drug a few weeks ago that is going to be marketed as Daybue and it will be the first drug specifically to treat Rett Syndrome. You can read about it on their website: here.

There are two major Rett Syndrome charities: The International Rett Syndrome Foundation and the Rett Syndrome Research Trust. Both were started by parents with children with Rett Syndrome. One might think the community affected by Rett Syndrome is so small, wouldn’t one organization be enough? And wouldn’t it be better if they joined forces? But it is not unusual in these small medical communities where the stakes seem to be so high to have two or more groups because of different philosophies, different strong personalities, etc. There is a long, long history of the two of them and if I had to describe them in a few words, I would say IRSF is more family-support-based and RSRT is more science-cure based. This was more true when Edda was diagnosed but over the years, IRSF has certainly incorporated more scientific discovery, etc into their repertoire. Now if I had to differentiate the two from a scientific standpoint (with no real evidence, just my feeling), IRSF likes to work with existing drugs and/or traditional modes of finding treatments/cures, RSRT probably focuses more on the “home run” cure and leapfrogging into newer genetic technologies. I am forever grateful for the passion, hard work, tenacity with which both organizations help families and our loved ones. We have taken advantage of both organizations’ programs. I have friends who are passionate about one or the other organization. I, as I am generally low conflict, wish that there was only one so I don’t have to choose, but I can see why they needed two. We’ve generally supported RSRT because I prefer their scientific approach and their transparency regarding their finances.

But! This first approved drug trial was funded and managed by IRSF, and Dominique, the Chief Scientific Officer, is a friend and did come to Edda’s party to say hello. And we were able to talk to her about the drug.

I have mixed feelings about this drug. I’m ecstatic that there is a specific drug for Rett Syndrome. I’m hopeful that Edda might show some improvement – I’m most focused on having her, perhaps, to not need her arm braces to control her involuntary arm movements. But there are some drawbacks – first, the biggest side effect is explosive diarrhea which is for sure a big deal for someone who needs someone else to help clean them up. Eric Marsh, our neurologist at CHOP, and his team have developed a pretty good bowel regimen to control the diarrhea. The second issue for us is that it’s a 50 mL dose twice a day and that it tastes pretty terrible. Edda is not a big drinker, so to get her to reliably take the medication will be something we’ll have to see. The list price for this drug is about $20 a mL, so that’s $2000 a day and almost three-quarters of a million dollars for a year’s treatment. Now, Dominique says that the company is ready to work with the insurance company to get it covered, so I’m not sure how that is going to work out, but I anticipate that it will be covered long enough at least for us to try it out and see if it is worth the trouble.

A few days before the party, RSRT released a fact sheet of their interpretation on the data: here which sets forth a more unsympathetic analysis of the clinical trial data. The most important takeaway from this analysis is that 61% of the people saw no improvement. The clinical trial promised that after the double blinded study, your child would have access to an open-label trial, so if you signed up, you would be promised to have a chance to try. In that open labeled period, almost half of the participants withdrew from the study.

We have an appointment in the first week of April with our neurologist where I anticipated we’ll get a prescription for Daybue and we’ll try it out. Dominique says that it should be covered at no cost to us through our insurance and it’ll be delivered to the door via refrigerated shipments. We’ll see!

One thought on “Daybue”

  1. Wow! This is so exciting. I’m interested in how this drug works – I’m not a scientist, so I don’t understand a lot of the specifics – but it seems amazing that it could potentially help with so many different aspects of mobility and mood. Fingers crossed very hard that it help!

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