Do you ever have those moments, like hit you like ton of bricks in the face kind of moments? We had one today. I think I found out what my son has exactly. Some of you may remember a post I made in January when they gave me his diagnosis. It was called Ecto-what? (the post not the diagnosis) I was digging around with that site Niobe linked. I finally remembered what it was called, Ectopic Posterior Pituitary Lobe. So I consulted the wonderful Dr. Google and found out that the Ectopic whatchamacallit diagnosis does not usually come alone. It comes packaged as a bundle with some friends, and together they are called Septo-Optic Dysplasia. Also known as de Morsier Syndrome. And what's more we looked at the symptoms and we checked off every single one of them. Skyler is only missing one of the symptoms the Diabetes one, and I researched as to why that is, some kids with SOD (Septic Optic Dysplasia) have no pituitary gland at all or are lacking the posterior, and so they end up with diabetes. His lacking diabetes is consistent with him having the eptopic posterior pituitary.
I know this all sounds like gobble-do-gook, but as the most educated person on Skyler my son I can tell you that I know him, and I know how he behaves, the things he does and does not do, the physical characteristics that he exhibits that match the symptoms and signs of this disorder. I am not a medical doctor, however tomorrow as soon as the endocrinologist's office opens I will be calling them and asking them about the possibility that my son has this condition. The reason they did not diagnose it is that it is not singularly an endocrinology problem, the other parts of the syndrome manifest themselves in ways that will have to be diagnosed by an opthamalogist and a neurologist. Appointments which we are still waiting on.
Now for the ton of bricks part. We were reading the symptoms and how one of them is visual problems. Mainly the optic nerves are weak. In some cases the child can see but not very well, in other cases the child cannot see anything but lights and shadows. We were reading this and thinking well at least Skyler isn't blind..... is he? and then the walls came tumbling down around us. We examined all of his symptoms. What does he focus on? My computer screen late at night when it is dark and my screen is lit up. The tv at 4am when I hadn't turned a single light on in the house.. His toys that make noise, when you jingle them he will turn to find them but he will not focus directly on them. When I thought he was looking at my face he was only turning to the sound of my voice. We checked to see if he could mimic us, and indeed he was sticking out his tongue while I was (but his eyes were looking elsewhere and not at me) so we stuck my tongue back in my mouth and he continued to stare into space and stick out his tongue at nothing. He was not mimicking us at all.
Whenever he would smile we would talk very highpitched and smile at him, we thought he was smiling back at us, but he was smiling because he could hear the change in the pitch and tone of our voices. I did a test, I grabbed his most bright colourful toy that he usually responds to, and I jingled it, he turned his head toward it, but his eyes did not focus on it. Then I moved the toy from side to side without jingling it, nothing. He stared at the same spot he had heard it last. Then I jingled it at the opposite side of his head, and he turned his head toward the sound but again did not focus at all rather just stared into space. Now all we do is call his NP and his specialists tomorrow and see if we can't get his appointments moved up, and wait for the official diagnosis, but as far as I know,
Ladies and Gentlemen my son is blind.