Neurology Appointment

On Tuesday Miss Riley had her Neurology 5 month check up. To be honest Neurology is never fun and I was dreading the appointment. I went in with hard questions and much to report. I came away with some answers but still a lot of unanswered questions. Which is what I feared.

The good news first. Riley's head did grow 1 cm in the last 5 months! Her last appointment she didn't have any growth, so the doctors were worried. But they are pleased with this new growth. Also from some blood that they took in January, they found a gene mutation. It is only one side of the particular protein known as GPR56 that is "misspelled". So they refer to that as heterozygous. I am yet to do my full research on this. but they also referred us back to genetics. It hasn't been published yet that this specific gene mutation causes any conditions, diseases or syndromes. But genetics may have more information to help us. Plus this is something for them to finally focus on.

The bad news was that the ear grabbing and tounge movents that Riley has been doing lately are either small complex focalized seizures, or neuro misfirings. Either way it makes me so sad for my little girl! They are hoping an increase in her anti seizure med will help. I'm hoping too.

The other bad news was all my unanswered questions. But I should have know because they are tough questions. I am just hoping to start finding more answers as to what my sweet Riley has to look forward to in the future. Four of Riley's conditions come with a shortened life span. So I wanted more information on that. I wanted the why, when and how of the possibilities of that, and they were unwilling to even address the question. In medical school they must learn very political ways of how to deal with worried mommas! And lately I have been one worried momma! I am often terrified that my sweet baby is one bad seizure or one case of pneumonia away from leaving her sister and I. It's almost unbearable.

I say almost because this sweet face makes it bearable!


People are always drawn to Riley and she has a lot of adoring fans at TCH. For this appointment a particular nurse was so mezmerized by her that she went to find bubbles, candy and stickers to give her. We blew bubbles for 30 minutes while waiting for the doctors. She loved it! At least she had a good time!





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