Journey of An Unknown Disorder

When I found out we were pregnant right after we had moved in July of 2021, it was a whirl wind of emotions. I didn't think we were truly ready even though just 2 months prior to that I had convinced myself that we were. I was upset because we hadn't even found a pediatrician for our almost one year old and the house was still full of boxes everywhere. Eventually I found a decent rhythm, but being pregnant with a one year old who is just learning to walk is pretty darn exhausting. As the pregnancy went along everything was good. I had a minor subchorionic hemorrhage that resolved itself by the time I hit the second trimester. Everything seemed to be going normally.

Fast forward to the end of my pregnancy, I felt an extreme pain that woke me up one night and I new that she had flipped herself. I had a suspicious feeling that she had turned herself the wrong way. At my last appointment we had an ultrasound before we saw my OBGYN and my daughter was indeed head up and butt down with her legs frogged out and crossed. This lead to a planned c-section. Now if I could have I would have loved to do things naturally, but we needed to do what is safe for not only me but our child. Things don't always go the way we want them to and that's just life. Everyone has to make those decisions based off of what is best for them.

Maia came one Monday morning via c-section and her scores were normal. Everything seemed okay. There was a moment where she gagged and puked up amniotic fluid and turned a bit blue, which freaked my husband and I out, but the nurses weren't worried. Continuing on, Maia did not eat as well as a "normal" child, she constantly fell asleep. Eating extremely small amounts at a time and taking forever to eat. Months pass and around 5 months there wasn't any improvement and she began to loose weight. She ended up getting a g-tube placed during a hospital stay and we started the long process of meeting different specialists.

Through out this time it was extremely hard for the entire family to adjust. Maia had feedings and figuring out what truly worked for her was difficult. There were times I woke up to her puking and she'd be almost blue choking until I helped her clear it. There was non-stop vomiting and constant changes. I fell depressed and my husband really stepped up. I put up this mask and was trying to be happy, but I couldn't help but wonder what was wrong.

After Maia turned a year old we finally got whole-genome sequencing done to see if there was anything there. We had worked with St. Louis Children's Hospital Genetics for some time before this, but everything they did previously turned up nothing so this was their last step. Before we got Maia's genetic results back, Maia got severely backed up with constipation and it led her into what is called a dystonic storm. A dystonic storm for Maia involves first very spastic crazy movements which leads to her muscles firing without control and stiffening to a painful degree. Her muscles end up breaking down and there were two events where she lost a couple of pounds in just two weeks due to how bad the episodes were.

In October of 2023 we here from genetics that essentially they didn't find anything, so this led them to believe as a neurologist confirmed that she most likely has an unknown genetic disorder. This gives us mixed feelings because we had some what a confirmation that more was going on, but no road map to help guide us what-so-ever because she has something that either hasn't been seen enough to have a diagnosis or has never been seen before. It has been a difficult process understanding everything in this special needs world, but we are surviving it and I hope that our story can give others some peace that they are not alone.

It wasn't until recently that I realized how bad the depression had its hold on me. I was taking care of my girls, but I had this mask and I wasn't living. I have been working hard to change that and dive more into research and understanding instead feeling stuck. I have reinforced my knowledge that not only does Maia need me but so does her big sister Lillie. We are trying to plan more trips within Maia's limits, trying new things, and building our homestead that my husband and I have dreamed of owning. I plan to share things I learn and different things that help us live through this crazy journey of needs that I hope help others as well.