The first step, screening visit 5

Part of what the Rettland Foundation wants to do is share stories of different families as they go through the process of clinical trials. This week, I happen to be traveling to Boston for our screening visit so I thought I would share a bit of our story. Enjoy!


We’ve been talking about it for a while, all of the excitement about the IGF-1 trial in Boston. It started at an IRSF conference that I went to where I heard doctors discuss the promising research. I talked about it with our neurologist once I returned. I was so excited that maybe within 3-5 years there might be a medication to help Claire. Claire’s response was different. Tears streamed down her face and her lip quivered as she used her eye gaze computer to tell me “long, hard, live.” To a five year old that must have seemed like an eternity.

It was just two and a half years later that we were accepted to come for our screening visit and it will be under 3 years when we start the trial. It seems like such an exciting thing. Everyone we talk to is excited for us, they can’t wait to see what Claire might be able to do. It is exciting, it is world changing and that is a huge thing. Yet I wouldn’t say I am excited. Right now I feel more terrified, overwhelmed, unsure and fearful. After all, I only applied for the trial after I was dared to dream bigger and more audaciously than I ever had before. I knew that my big dreams would lead me into unsafe territory, if it felt safe the dream wouldn’t be that big.

You might wonder, why all of the negative emotion, treatment for Rett Syndrome is such a good thing. It is. I want treatment for the girls, for their sisters and brothers, their mothers and fathers and their friends just as badly as everyone else. But it is a change, it is unknown. It has taken a great deal of work but we have come to a place of thriving inside Rett Syndrome, the way it is. We have adapted to the seizures and the stiffness. We have integrated communication strategies to reduce everyones frustration. It has been six and a half years since we heard the words “positive for Rett Syndrome” and we are finally getting into the swing of things.

Just as we settle in to our nice little life, it felt like an atom bomb landing in our lap when we were notified that we could go to Boston and participate in this trial. If the medication doesn’t change our life I am pretty sure that 7 trips to Boston and at least 50 nights in hotel inside of 66 weeks will. It’s an adventure, if it didn’t shape us that would be a crying shame.

So I start to prepare for our flight with an uneasy stomach. I start to think about what to pack and I lose my breath and get a little light headed. That is what life feels like when you are doing things that terrify you. The lesson that I am learning in this is that just because it is scary doesn’t mean you shouldn’t do it. It just means it is scary and shouldn’t be done alone. So I lean in to those closest to me for comfort and those of you out there to help me remember why we are doing this. We are doing this not because it is easy or convenient but because Rett Syndrome isn’t. Because UNLESS someone like you cares a whole awful lot, Nothing is going to get better. It’s not.

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5 thoughts on “The first step, screening visit

  • Reply
    Ann Ballout

    Great job!!! I am reading and it is like you are describing exactly what I am feeling!!!
    Annoying for our girls!!!

  • Reply
    Kathy Meisner

    Colleen, I realize that this took place back in March, but I am just now reading it….Thanks for sharing so honestly, for being transparent. I think you and Claire are very brave. Rett is incredibly difficult, on so many levels. I didn’t perceive your thoughts as negative emotion at all, just emotions shared honestly. This whole journey is every thing you said and all of us feel some of the same things, different things and other things….it’s definitely a mixed bag. I am very excited, and then aprehensive and then hopeful and then I pull back a bit, and then leap again….it’s topsy turvy. What a priviledge it is to have these incredible people in our lives. They have so changed us! And now, the research and all of the amazing people who hope with us. I smile, I cry, and then I smile again…..