Back in January Parker had an EEG, and then later an MRI, partially to rule of Cerebral Palsy, partially to see if anything else was amiss. In the meantime we had received the CTNNB1 diagnosis and based on what we are read through our own research, was not anticipating any abnormalities in the brain such as trauma, etc. that would lead to CP.

The EEG results came back normal, but the MRI showed that Parker’s body is not depositing fat in portions of her brain. The brain needs fat in order to operate correctly, and in fact the brain is composed of approximately 60% fat. Without those fat deposits, neural difficulties can emerge. The portions of Parker’s brain that are not developing correctly are the portions related to sight and motion, both of which are showing decreased development already. Now it is possible, and does happen in most CTNNB1 cases that are documented, that the body does gain the ability to move and walk, albeit often with physical assistance, such as braces, crutches, or wheelchairs.

What this does mean is that Parker’s difficult in walking can not be rectified through physical therapy; she can not be “trained” to walk, but all we can do is help build and maintain muscles. Parker can move her legs, but the coordination to crawl or walk has not developed, and apparently will not until things in her brain improve.

So not great news, but we continue to work with her, and she continues to be one of the most cheery and upbeat personalities we’ve ever met.