Worth Trying

It’s funny how different dates sear into your mind in a way that your body can sense it even without looking at the calendar. I can feel our wedding anniversary, the birth dates of both of my children, the day Claire was diagnosed with Rett Syndrome and the day that she passed. I’ve got a new one to the list. March 10, 2023 the day that Trofinetide was approved by the FDA as the first treatment for Rett Syndrome.

Let me back up. Summer of 2012 I attended the world Rett Syndrome Congress in New Orleans. There was an incredible energy around the promise of new clinical trials and the hope that some day there could be a treatment for Rett Syndrome. I left with a sense of, not if, but when.

A year later I was chatting with Claire’s physical therapist while Claire was on the treadmill. I said something along the line of how important it is that we keep working hard, so that when a treatment is available, Claire’s body would be in the best possible shape. I then mentioned how there were two trials, both struggling to get fully enrolled. Claire picked her feet up (she was in a harness) and stared at me, as if to say, hello, what about me. I tried to explain how we lived too far away and it would be too much for her to be in one of the studies.

She wasn’t interested in my excuses. So we signed up to go to Boston, the only trial available for her age. There were many long talks with Claire about how there would be shots and tests, how the medicine could make her feel worse and might not help. Claire was adamant, we had to try. Chloe was thrilled to hold lemonade stands in an effort to help get a medicine. That’s when all the therapy I had done to accept things for what they were went out the window and I dared to dream.

In December 2013 I formed Rettland Foundation to help families be able to afford the travel associated with participation in clinical trials for Rett Syndrome. Some of the first families we helped were traveling to Texas for a study in NNZ-2566 (trofinetide).

Those were hard times. Just being a mom to two girls, one with Rett Syndrome was more than enough to manage. I didn’t want to be taking on all the extra work, but Claire wouldn’t let it go, Rett Syndrome was a problem to be solved and she wanted to be part of the solution.  Long after we were done traveling to Boston, I continued my work with Rettland Foundation. Claire loved hearing about my work. She loved that our collective energy was being used to fight Rett Syndrome, not accept it.

Six years later, in 2020, Claire had the opportunity to enroll in the next phase of the study for Trofinetide. At the same time that the world felt like it was coming to an end, our dreams were coming true. After a period in a double blind, placebo controlled study, Claire was given the open label drug and monitored.

She didn’t jump up put of her wheelchair and talk, but she improved and we all relished that she could use her body ever so slightly better. It was the margin we desperately needed in light of the schools being closed and losing nursing support. Claire loved that she was secretly winning while there was such chaos everywhere else.

Despite the improvements, Claire passed away in February 2021 from complications of Rett Syndrome. It was the hardest day of my life followed by the hardest weeks and months of my life. Slowly I have healed. I know that I need to keep living for Chloe and in honor of Claire. I have literally moved around the world, trying to find a new path to continue on and figure out how to live again. Even after two years, I just couldn’t settle. Living just didn’t feel right.

Then the news came. The FDA approved the first drug to treat Rett Syndrome, Trofinetide (DAYBEU). I was surprised that there was no grief, just pure joy. The thing that Claire wanted more than anything is available now. All of her efforts have paid off. I thought of the families that would be diagnosed in the next few weeks and how they would be the first to hear the diagnosis and at the same time be told that there is a treatment. It won’t work for everyone and it isn’t a cure, but it is a step.

This is one of the greatest things Claire taught me, a small improvement can make a big difference. She used her life to show everyone around her how it was possible to live abundantly even with difficult circumstances and that if you can try and make it better, you should.

I wasn’t expecting it, but with this treatment for Rett Syndrome available, it feels like the end to her story, the happily ever after. I feel settled and peaceful, ready to get back to a more normal life not controlled by grief. Claire believed in a world where there was at least something to try and alleviate the symptoms of Rett Syndrome and that is the world we live in now.

Thank you to everyone who has supported us along this journey as we couldn’t have done it alone. I feel privileged to have been part of a community that has pushed together for so long, many families, doctors, researchers, support staff, it took a village and the people of Rettland showed up.

6 thoughts on “Worth Trying

  1. karlann@juno.com says:

    Thank you, Colleen, for writing this reflective report on the achievement Claire (and you) made in this ground-breaking drug.

    I hope you continue to heal and grow while in Australia. I have a small document of the remarks I made about your mother at the celebration of life in Kenosha, if you are interested. Not sure what email to use to send the document to you.


    Karla Ann

    Please note: message attached

  2. Tammy Hanson says:

    Thank you for this, it was beautifully written. As I sit here with tears rolling down my face, I’ve been thinking about the families who’ve lost their child before getting to try Trofinetide and the wondering they must have, wh

    1. Mo Abou-Eid says:

      As a father, with tears rolling down my cheeks, I can’t imagine the pain, but my god I know how happy your Angel is in heaven, knowing her contribution and determination will now help others. Like yourself Colleen, she found something when it would’ve been easier not to. You will meet again, this time she’ll be pain free.

  3. Valerie Erickson says:

    God bless you. Your story truly gives this more life. Of course I’m crying so I can barely read what I’m writing. Keep spreading your word. Helping others helps yourself. God bless your little angel
    Valerie Erickson, RN

  4. Lisa Rushin says:

    We finished the trial in Houston in late summer/early fall of 2013. Siera and I traveled alone for all but 2 of the visits. It was such a scary and exciting time!
    We are so very grateful you developed Rettland; it made the other trials Siera has participated in since so much easier and not as scary having an extra set of hands along!

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s