Join us for the Run a K for DYRK1A

Everything changed on October 28th. MaeLynne was born after a relatively short labor (Dina may disagree about it being short). She was so tiny. Over the next few days, I learned a lot of words and phrases I never knew existed or only knew about in passing. "Hypertonia," "failure to thrive," "microcephaly" to name a few. During this time, we also got to know entirely too many doctors and nurses (most of whom were exceptional). Test after test came back negative, creating an increasing web of diagnostic intrigue. Dina and I hung on every single milliliter Mae would drink. 5ml here, 8ml there. We almost threw a party when she had 10ml for the first time.

The nurses kept telling us in the delivery room and for the first day post partum, "Let us know if you see anything out of the ordinary," a useless platitude to brand new parents. Everything is out of the ordinary. The next day, they carted Dina and Mae down to the NICU, where we would remain until November 26th.

Our last ditch effort was a full genome sequencing. A medical Hail Mary. I knew something was amiss when the nurse asked us if the genetic counselor had been by to see us. Every other test they were happy to tell us that the results were negative and that the doctor would be by to go over what the next step. Not this time.

November 19, 2024 is the worst day of my life so far.

We got our diagnosis on November 19th. Dad passed later that night. Immediately after getting the news, I couldn't speak. Grief-stricken.

Mae is one of appoximately 700 people with a de novo mutation called Dyrk1A. Her particular variation is a substitution error, which has never been seen before. We essentially got struck by lightning 3 times in a row.

Looking at what the future could look like back in November overwhelmed me. The range of potential outcomes is pretty wide. Some kids are completely non-verbal. Some are wheelchair bound. Some need a PEG tube their entire life. Some don't need any of those. While we don't know yet where Mae is on that spectrum, we continue to hope for the best, one day at a time.

Join me in August as I try to run a 1k a day for Dyrk1A. You don't have to run with me (I certainly hate running). My goal is to spread awareness of this condition, as it has likely been misdiagnosed as autism previously.