Maddox finally had his first genetics appointment after 10 months. We have already known the results, so if I am being honest, I did not feel like this appointment was necessary, but we went anyway. They did not really give us any new information about his TUBA1A mutation. I have done a lot of research, and because it is so rare, there just is not much information to give. His genetic condition gives us the why behind his brain malformations.

We have also known that it is de novo, which means it was not inherited from me or Thor. Neither of us carry the mutation. It occurred spontaneously at conception, a random change in his genetic code that could not have been predicted, prevented, or passed down. There was nothing we did or did not do to cause it. It is simply something that happened when Maddox was first forming.

I still wrestle with that. Not sure why he was chosen. Why he was chosen to have the limits and the struggles he will face. I know people mean well when they say he was born this way for a reason, but some days that is hard for me to fully understand.

Side note, I had my first really triggering moment while filling out the genetics paperwork. It asked about family history of mental retardation. Yes, they still used that term. If you know me, you know I wrote next to it and corrected it to intellectual disability. Ten months ago that wording probably would not have hit me the same way. But knowing my own son will be classified as having an intellectual disability, that one hurt. We can do better in choosing words that truly respect and uplift the disability community, because language shapes how people are seen, valued, and treated.

After genetics, we went up a floor for GI. Just a basic follow up to get a weight baseline. Unfortunately, Maddox has trended downward on his last three weights. We are increasing his milk intake and monitoring closely. With him starting the keto diet soon, neuro and the dietitian will be watching his weight carefully.

Our last appointment was a pediatrician visit so the doctor could write notes for a compression vest and helmet consult. Managing all of these different doctors has been challenging. Some fully understand Maddox’s conditions, others do not. Some need paperwork done one way, others need it done differently. It is a lot.

We decided to establish care with a pediatrician who specializes in medically complex children. I probably should have done this months ago, but we have been with the same pediatrician since Aspyn was born and I was comfortable there. We go in March, and I am really hoping I love this new doctor just as much as his current one.

Also, Maddox seems to have his first cold. Just a little congestion and a cough. It sounds small, but for him even small things can turn into big things. Babies and children who are low tone and medically complex do not always fight infections as easily. So if you think of him, please keep him in your thoughts. And if you think of me, hope I can get a little sleep the next few nights without stressing over every sound and movement.