Traveling without a road map!

Madi’s neurology appointment on Saturday went better than we expected, however we left the office with more questions than answers.

Madi has a clinical diagnosis of pontocerebellar hypoplasia (PCH). This diagnosis is based on the results of the MRI.

After examining Madi, the doctor told us that she is doing very well. He has two other patients with PCH and she is more advanced in her mental and motor skills than either patient. It was odd to note that both of those kids had more developed cerebellums, but had more complications. He reassured us that from his experience, trouble swallowing and respiratory issues associated with this disease are usually present from birth and are not something that would develop later. He couldn’t guarantee this obviously, since so much is unknown, but he felt comfortable that this would not arise later.

He went on to explain that the initial genetic test of her chromosomes came back normal (that she had the correct number and that none were duplicates or "broken"). Now, we are waiting for more specific tests on the genes within the chromosomes known to be associated with this disorder to figure out which type she has. We start with one test and if it comes back negative move onto the next one. There is the possibility that all the tests could come back negative. She may be a type that hasn’t been recorded before. The results could take up to six months and at that time we will meet with a geneticist to discuss them and see where we need to go from there.

For now, we are to continue with things as they are. We will continue to have occupational and physical therapy once a week. He also saw no reason why she couldn’t have corrective eye surgery, so we will probably have that done late this summer or in the early fall. Thankfully, Jessi had this surgery when she was seven months old, so we already know what this entails.

Butch and I were both relieved after this doctor’s appointment and have a thousand more questions. At the moment, we seem to be in no man’s land. The doctor said there is no clear-cut map. We will take things one-step at a time and deal with things as they come up. Our rehabilitation specialist is coordinating all these doctors and tests and the neurologist felt that he was on top of everything and had a good plan for now.

As a control freak, I would really prefer a road map, but that will not be the case. We continue to be thankful for every day we have with Madi and are grateful for all the things that she can do. I hope we can continue to shock and surprise doctors with her abilities and that she continually exceeds their expectations.

Thank you all for your kind words and prayers. They are helping!