At 7 weeks old, Abby’s heart was repaired. The surgery went great except for the scary but common complication of post operative arrhythmia. They put her on some heart meds, and after a few extra days in the hospital, went home.

The reflux persisted for a few months, which was scary for me because it reminded me of her difficulties feeding with the heart condition.. Plus I also had a beloved pet years ago who suffered and passed from an awful gi disorder and the reflux was a terrible reminder. 

By April, she was on a reflux med that helped, and she was starting to catch up. She babbled by May, made great eye contact, started to grab at (even bringing to her mouth a few times) toys, and was sitting well in a high chair, but not able to sit alone or in tripod yet. She also started purees with no problem. We thought everything was behind us and we could just watch her thrive. I started worrying about childproofing the house because surely grabbing objects and crawling were right around the corner.

Sadly, it is now March, ten months later, and those things didn’t come. We lost eye contact and babbling. We are not significantly closer to sitting independently. We did learn to roll both ways and grab our feet, though.

During the past ten months of Abby’s plateau, I really became concerned she had another genetic condition called Rett syndrome. I felt this way because she would not use her hands to reach for objects anymore, and became obsessed with staring at them. Responses of her Dr.’s ranged from “I guess it could be possible, but unlikely” to outright dismissal. 

We finally got our genetics results back in February: GRIA2. The geneticist also sent us a research paper on the disorder and there was validation that although it was a different disorder, I wasn’t paranoid : ” Rett-like hand movements, no purposeful hand use” right there is the possible symptoms list. 

And another shocker! My husband has the disorder, too. For some reason, he was much less affected. He has autism, and didn’t walk until he was 2 years old, but my husband is very mildly affected. Unfortunately, this does mean any of our future children have a 50% chance at having the disorder. Doctors do not know why she is so much more affected than him, but the disorder does have a very wide range of severity. We also found out we each gave her a differently mutated copy of DNHD1, something even less is known about, but was listed on the report as a variant of unknown significance. 

Her doctors are concerned that she has made so little progress in the past ten months. She does not seem to have seizures (she had an overnight eeg in October that was normal, and a normal “fast” MRI) but she does a LOT of unusual movements such as rocking and banging her head. She is being transferred to the Rett clinic at our hospital. Even though she doesn’t have Rett, the symptoms are often similar, and they want her managed by a genetic clinic. 

This has been really hard for us. We don’t know if she will ever use her hands, sit by herself, or learn to communicate again. She is really in her own world and I feel all my dreams of teaching my child about the world slipping away. But she finally is with the right doctors, we finally have a diagnosis, and so we will keep on keeping on.