I was sitting in an appointment with Jack at the beginning of this week when my phone rang. It was a call from Lacey, Ella’s genetic counselor at Boston Children’s Hospital. Lacey and I rarely talk on the phone. Most of our correspondence is through the portal. I think in the three years we have been with her we have only spoken on the phone twice.

The call was random but what she said were words that we have been waiting eight and a half years to hear. She started with small talk and then told me the reason she was calling. The genetic trial that Ella had been put in was a success. They had found a diagnosis. I must have asked her to repeat herself twelve times. I was in shock. She so matter-of-factly said, “Courtney, her condition has a name and there are other children who have it. You have the answer you have been waiting for.”

I asked her a few questions, the first one being “what does this mean for Ella?” She told me it wouldn’t change anything we were doing YET. She danced around telling me what it was and told me we needed to make an appointment with her neurologist to get the diagnosis. They had to formally review the results with us. I immediately asked when and made an appointment for the first available, which happened to be three days later. I then took a few minutes to compose myself. I was alone with Jack at his appointment and had stepped out to take the call. When I walked back in I was shaking and my mind was racing. I knew I needed to call Steve. Jack’s appointment ended and I quickly got in the car and sobbed. I still couldn’t believe it.

I was still crying when I called Steve. He was on his way home from work. I said, “babe, Boston called. They have a diagnosis for Ella.” He too repeated the word what multiple times and asked questions I couldn’t answer. He was annoyed we had to wait to find out. I completely understood, but I also needed him to understand that at the moment I got that call there was absolutely no way I was ready to receive that news alone. It was something I knew we needed to hear together.

It was a long three-day wait and leading up to our appointment we had only told a few people the news. We knew there would be questions we didn’t have answers to, but more than anything we wanted to be able to process what was happening without having everyone immediately reach out. We had no idea what news was coming or what to expect.

Ella has Rett Syndrome. It feels so weird to say but also so gratifying. For me, Rett was always on the radar. Ella checked almost all the boxes. I was so convinced she had it that I had asked them to go back two more times to look for it. Both times they told me nothing was found. When we asked why now, we were told the technology has finally caught up and her depletion was atypical.

I will update everyone soon on next steps and what this diagnosis means for the future of Ella and our family. For now we continue down the same path we have been on. There is nothing more Ella immediately needs to improve her quality of life. Going forward there may be some changes, but we will need some time to figure that all out.

We fought hard for this, to get where we needed to be and to be able to partake in this genetic trial. A diagnosis was always the end goal and we have successfully achieved that. We are so grateful. It’s time to start down a new path on this journey. Ella’s neurologist reminded me I am a force to be reckoned with. I’m looking forward to bringing that passion and drive to the Rett Community.

Thank you all for your support and encouragement. Here is to new beginnings.

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