Naomi's diagnosis confirmed
Many of you know we scheduled a follow up appointment for Naomi at Riley Children's Hospital in Indianapolis for today. We are home from the visit. I'll summarize: the neuro-geneticist we met with is one of two there who specialize in TS (tuberous sclerosis http://www.ninds.nih.gov/disorders/tuberous_sclerosis/tuberous_sclerosis.htm). He went through the same Q&A as our neurologist at Lutheran in Fort Wayne. The diagnosis was confirmed. As well, Elsie and Ethan show two symptoms. While this is not enough for a diagnosis, he recommended they follow the same screening as Naomi. Also, he diagnosed me as the carrier (its a dominant genetic disease). In some cases, there is no family history and the mutation can be traced to a particular paternal occurrence, namely, me. Therefore, as I exhibited three (or more?) of the symptoms, he ordered the same screening. Specifically, she will need yearly MRI, Renal Ultrasound, and ophthalmologist exams. He didn't order an EKG since she didn't demonstrate any heart issues although this is recommended. TS (tuberous sclerosis) is a multi-system genetic disease that can result in benign tumors in kidney, heart, and brain. Basically, you screen and do surgery if needed. The doctor also did a thorough job describing the MRI and CT charts although the words were large and foreign. This prompted a discussion of brain development. He said its possible for her brain as it grows to "outgrow" the seizures and compensate for the scarring and oddities. This was good news. This knowledge will help us continue in the wisest course of action medically. We are thankful for such experts and God's continued providential care for Naomi. A quick search on YouTube will reveal that this diagnosis could be as a result of far more severe symptoms. The seizures are infrequent with medication, her development doesn't appear to be regressing but developing, and she has none of the tumors. We may continue following her progress via Lutheran or Riley, depending on what the neurologist here recommends. That's it for now. Questions?
