Today was a lot. It was intense, and things became very real for us. I’ll start with Cecilia. She had her sedation procedures today. She was sedated for about 4 hours while she went through an MRI, MRS, lumbar puncture, skin biopsy, ABR, and eye exam. Everything went very well, and they did not have to put her under general anesthesia, so she did not have to be incubated which is a huge blessing. She was up and eating and playing with in a few hours of waking up.
Lilly’s day was going great for a while there. She had a swallow study done first thing this morning followed by her speech language evaluation. She was rocking her SL evaluation, and doing vocabulary at an adult level. She was starting to get a little tired, and I got her up and a little piece of brownie to wake her up a bit. We continued on, and then she had a short Absence seizure. She quickly refocused, and then had another one- this one longer and she had a tick with her head this time too. The SLP recognized this seizure and immediately called a code (protocol). At least 30 people showed up out of no where to help/gawk/overwhelm. Lilly never lost consciousness, but was otherwise unresponsive. We got her moved back to our room, and cleared out the crowd. It took her about 45 minutes to become physically responsive (gripping, reaching, smiling), and it was 1 hour and 45 minutes before she became verbally responsive again. It was scary, and only a taste of what is to come. We know that this was mild compared to what we will probably see in the future, but we are thankful that we get to wade into these unknown waters, and not just deep dive into them with Lilly.
We have been staying at the Children’s Inn this week. It is a hotel/ resident inn of sorts for families with children who are being seen at the NIH. They had lots of fun activities for the kids today including a dance lesson, music, and art.
As heartbreaking as it is, it is nice to be around families and parents who get this, and have no judgements or expectations, but do have sympathy and empathy for what you are going through. So many of these kids are here with very rare diseases and are in the same boat that we are- facing life changing, life ending diagnoses.