Neurology

Standard

Jude’s referral was difficult to translate when it came down to what was going on with her neurological needs. Ultimately it came out as absent septum pellucium.

Admittedly this one was over my level of education, but when I got the information I happened to be sitting beside a seasoned physician. So I asked her and even she had to look it up.

This was the biggest unknown. But after speaking to a few more highly educated colleagues that morning I formally accepted Jude’s referral within a couple of hours.

By December I had done enough independent research to suspect that Jude had a condition known as Septo optic dysplasia. There was nothing to observe during our visit with her. Just see what her level of developmental delays were so we could prepare for them.
One thing did surprise me on our stay in Bulgaria. It was mentioned that Jude had 2 café au lait spots. When I asked to see them I noted that she had 2 large spots and dozens more small ones. Instantly I knew that neurofibromatosis was also a concern.

Today Jude was formally diagnosed with Neurofibromatosis type 1. Once she has an MRI In a few weeks we will know the extent of it. This MRI is also likely to confirm her diagnosis of Septo optic dysplasia. (I was correct in my guess)

But this doesn’t change anything.

Jude still has an excellent prognosis to catch up. In fact we confirmed today that she has gained another pound. And she 3 new English words this morning. And now she can put her shoes on by herself. But best of all: she is starting to laugh at my pathetic jokes.

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