Yesterday, we returned from Washington DC after a visit to the white matter clinic that we hoped would give us answers in Eve’s diagnosis. We were told prior to the visit that most likely, Eve has Aicardi-Goutieres syndrome based on genetics as well as her symptoms, but we returned with more questions about that. The trip was worthwhile and we continue to process all we learned.
As Eve’s genetics results were reviewed, one of the clinic team members said something that I pondered most of the drive home:
It is incredibly unfair that Eve has experienced the greatest loss in this world, the loss of her biological family.
And with that, she has lost the best hope in finding answers to her medical condition.
Eve has two different but significant genetic mutations (and a third one that no one knows much about). If her biological parents were here, they would be tested and which ever mutation they carried, that would be the answer to Eve’s diagnosis. Without that, all we can do is monitor and see which syndrome seems more likely. Neither syndrome is something we want as they continue to rob her of health and quality of life. Or the answer could be “neither” and something else is going on.
Two wonderful and important things happened as a result of this clinic. First, we found a new local neurologist that we are going to see next month. The team will send an extensive report to this doctor and it will include recommendations on medication changes and thoughts on what is going on with Eve. The other thing is that Eve’s movement disorder was reclassified which opens up new treatment options. Her body is moving opposite of her intentions which makes most tasks impossible. Over the last year, Eve has lost abilities and the movement disorder is to blame. Trying a different medication offers new hope.
We had many expert eyes on Eve, looking at her history and the syndrome progression. They offered great solutions and hope for the future. And that is why we went. We felt stuck at the current treatment plan and now a new path is emerging.
The other quote I keep thinking about was in reference to Eve’s MRI of her brain. One doctor stated that : “her MRI shows a child who had a really rough start to her life”. I was holding a smiling Eve on my lap as she said that and I kept thinking how far she has come. Despite all the adversities, she smiles. Despite all the abandonment and abuse, she trusts. Despite experiencing the greatest loss a child can experience, she loves.
We are going to continue to search for answers while knowing that we may never find them. And we are going to focus on Eve’s quality of life with new treatment options as well as setting up new supports for her at school and home. It was a great trip and it’s even better to be back home.