Pipers diagnosis

Source:  Pipers diagnosis    Tag:  rare genetic disorders in babies
Well we finally have a diagnosis. She has infantile spasms, this is what we have been worried about the whole time. From the MRI and EEG they found that the right side of her brain has many abnormalities and is causing the problems. The left side of her brain looks relatively normal which is extremely unusual. One of her doctors said in 20 years he has only seen one case somewhat similar but it was still not the same. He said her brain is truly fascinating. With that said the left side of her brain isn't being affected by the right due to the absence of the corpus callosum. If she continues to have
seizures her left side could be affected.If this happens there is a possibility she will have to have brain surgery to remove or disconnect the part that is causing these spasms. Please pray that we don't have to do this because it is absolutely terrifying.

The main concern we have now is that she has all of the symptoms of a very rare genetic syndrome called Aicardi syndrome. It is a genetic condition where there is an mutation on the x chromosome so it only occurs in girls. The prognosis for the syndrome varies and most cases are not so good. Genetic testing will done at some point but controlling the spasms is first priority. To control to spams steroids are used. She was started on a loading dose of steroids today. She will continue for 3 days to see if there is any improvement. The steroids increase her metabolism and decrease her immunity so we have to be very careful that she isn't around anyone who is sick. She is also being taken off one of her 3 other anticonvulsants so hopefully we will see the happy baby we are used to.

Whew.

We feel very lucky to be here at Emory and will not be going back to Erlanger since these will be her primary neurologists.

Tomorrow is her 4 month birthday! Its amazing that 4 months have already gone by but at the same time the past month has taken forever. We figured out that she has spent a quarter of her life in the hospital. It's a good thing she is little and won't remember any of it.

We appreciate all of the continued prayers and support. The encouraging words do so much for us and help us continue to stay strong.