Sunday, March 15, 2009

And Then The Walls Came Tumbling Down

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.

8 comments:

Stacie said...

The last line of your post knocked the breath out of me. I am so sorry for the unfairness of the universe.

I am sending strength, love, and support to your entire family.

Karen said...

Wow. I don't know you at all. I just followed a few links and ended up here. But I am so, so sorry for your family right now. I can only imagine what you must be feeling. I hope that your next Dr. visit brings information, understanding, and hope. Please keep posting and let us know how you're doing.

Becky said...

First take a deep breath. Everything that you described with his eyesight is exactly what lily did or even still does. I know that ages not blind but I do believe she is visually impared somewhat. There are different types of nystagmus. Has he had it since birth or did it just manifest over time? If he has had it since birth, its more likely to be connected to the optic nerve. If he hasn't, and lily's showed up around her due date, its less likely to be related to a neurological problem.I know that its scary. I do, but don't get ahead of yourself.

His adjusted age is still only 2 months. I'd say that its very recent that lily started looking at things and her adjusted age is 5 months.

Breathe. I'm going to email you my phone number because I'd love to chat with you if you have time.

I've been worried that all these things are connected with lily too. Now you've got me thinking...

Ya Chun said...

oh, breathe, breathe. At least you are looking and noticing Skyler;s development! You have to keep after these doctors. I hope that he is just too young to focus, or maybe his vision is poor. Hopefully the appt. can get moved up and you can find out what is going on.

and if he does have limited vision, I know you guys can get him through it! hugs

Buttercup said...

I followed a link, too, and was moved by your post. My thoughts and prayers are with you and my prayers for Skyler's sight and his health.

Amy said...

As I was reading your post I kept thinking, "oh no, oh no..." But as hard as it is, try not to give in to panic or fear. He may not be blind and only time and more doctors will tell that for sure. And if he is, you and C will deal with it with the same grace and strength that you've dealt with every moment of his life. (((hugs)))

CLC said...

I hope you are wrong. I would be doing the same thing if I were in your shoes, and you are right that you know him best. But please let the doctors makes that diagnosis before you totally freak out. I hope you keep on them and get those appts. moved up.

christyna said...

oh my god. sweety. I don't even know what to say. Let me know whats going on when you bring all this up to a doctor. I'm thinking of you!!! Hopefully he is just a late bloomer.