Development

We have been so busy for the last 2 weeks (or was it 3-I can't remember).

We saw the geneticist, and he felt that ocular albinism was an appropriate diagnosis, and Buddy will have two blood tests (for genetic testing) to confirm this.  What I did not understand before this visit was that ocular albinism can be caused by other syndromes.  I thought OA was a thing, and that was it.  Sometimes, it is (if it is caused by a mutation in gene GPR 143-at least I think that is what it is), and sometimes, apparently, it is part of something bigger.  So now, we have to make sure that it is not a part of something bigger.  This was very scary to find out, but I'm feeling better with time.

On Easter, Buddy had a "seizure-like" episode.  He seems fine, now.  We took him to the ER, but by the time we got there, he was back to normal.  They listened to my description of the sudden shivering movement and the deep sleep that followed, and said it sounded like a possible seizure.  We have now seen a neurologist and his pediatrician, and neither of them are convinced that it was a seizure.  They are calling it a "seizure-like episode" because they don't know what happened.  We went for an EEG to find out for sure if it was a seizure or not, but we haven't gotten the results yet. My husband finally called to ask about it, and they told him, "No news is good news!"  Really?  We are still waiting.

For Buddy's development, we have had two assessments.  Two Thursdays ago, we went to see the specialists at the Early Steps program.  They played with Buddy and tested all of his skills.  We were so proud of him.  He did a great job.  The said that he was slightly behind in development compared to a baby with normal vision, but if they had tested him with a test that was meant for a baby with a visual impairment, he would have been above average.  They are referring us to physical therapy to see if we can help Buddy improve even more.

The interventionist from the Division of Blind Services came and assessed him last Thursday with a test designed for children with visual or hearing impairments, and he measured on a level between 5 and 6 months, which interestingly enough, he just happens to be.

Because of the seizure-like episode, we went back to the pediatrician at 5 months.  She had been concerned about his development at 4 months, but she said to wait and see what the Early Steps people said, since they specialize in development, and would have a plan to help if necessary.  When she saw Buddy this time, she was so impressed by his progress in the past month; she said he was like a totally different baby.

We are so proud of him and how far he has come.  I will try to post soon about the Early Steps program plan and all of Buddy's new skills!