Diagnosis Day

Two years ago today Teddy was diagnosed with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1. That 3-hour genetics appointment changed our lives. We left with a completely unexpected diagnosis, one that had only been discovered 4 years earlier. We were told Teddy was the 15th person in the world as far as they could tell from research. We were given about 15 pages of medical research, which was about all they knew about his diagnosis.

We told my aunt his diagnosis because she was at the appointment occupying AJ for that incredibly long appointment (which really isn't all that long when you're trying to remember high school biology and process that your child has an incredibly rare diagnosis). But as we left, we determined we weren't telling anyone, including our parents, his diagnosis until the geneticist clarified the life expectancy not to exceed three years that we saw in the research papers. Somehow, they missed addressing piece despite Dave asking about long-term prognosis.

Teddy on diagnosis day, completely unfazed at rocking out world.

We headed up north after that appointment, and I took a long walk with Teddy on my back, sobbing the entire time. The memories, fears, guilt, lost dreams and all that jumble of emotions comes back to me as I type this.

It took at least a month to start wrapping our arms around the diagnosis. We often said we had a name, but it didn't change much of anything. That wasn't completely true. Having this diagnosis dashed our dreams ... until we learned to accept our new normal.

Now, two years later, his diagnosis has changed our lives for the better. Knowing is better than not knowing. We've been able to educate ourselves and others. Most importantly, we've connected with other families with the same diagnosis. We've laughed at our children. We've cried at each other's losses. We've shared information, ideas and stories. We've given each other hope. We've simply existed for each other-knowing the others makes it infinitely easier to have a child who is far rarer than one in a million.

For that, above all else, I am grateful we received our diagnosis.