Geneticist Appointment

After receiving the Childhood Disintegrative Disorder diagnosis for Caleb in January of 2010, we were encouraged to investigate a "medical" cause to his regression.  After going home from that appointment with the 15 page Neuropsych evaluation, I forwarded it to Caleb's pediatrician.  She reviewed the genetics tests that Caleb's neurologist had already had done when he was in the hospital the previous October and called and talked to the developmental pediatrician in town.  She wanted to see us and talk about where to go next.  After waiting for four months (which is a VERY short wait to get in to see this doctor!), she ordered some more tests. When those tests came back normal, we were then referred to a genetics counselor and had a consult with a Geneticist via video conference, which happened November of 2010.  After that appointment he ordered some tests, including a skeleton scan.  Once those tests were done and came back all normal, more tests were ordered, which we did.

Well, today we went back to talk to the Geneticist by video conference.  We talked again about Caleb's biological parents and the limited amount of information that we have.  We were once again, just like we have been asked by every single professional that we have seen, as to whether or not we knew of any alcohol or drug abuse by Caleb's birthmother.  We told him what we had been told, "No."  However, he doesn't believe that to be true.   He is concerned about Fetal Alcohol Syndrome.  He said even though Caleb does not have the facial effects of Fetal Alcohol, Caleb's behavior seems to indicate that.  That doesn't completely explain all of the regression that Caleb has experienced; however, it could explain part of it.

We then talked about the MRI that Caleb had in August of 2010.  This MRI was after a SPECT scan that he had performed a couple of weeks prior to the MRI.  The results of that SPECT scan, from what we were told, showed possible hydrocephalus and that a MRI was needed to confirm.  However, we learned today that the SPECT scan showed atrophy and hydrocephalus.  We were told that the MRI was normal.  Dr. Shaeffer wants to review the films from the MRI himself because he said it's very illogical to have a SPECT scan and a MRI be so different.  The genetics counselor will be getting those scans and sending them to him for review.  He hopes that she will be able to get them to him by the end of this week, so that we would have some sort of answers by the middle of next week.

The doctor told us that depending on what he sees on these scans will determine whether or not we need to dig any deeper medically to figure out a cause.  If he sees something that concerns him on these scans, we will then need to discuss digging further into possible neurodegenerative diseases.  If he doesn't see anything, it may be that no one will be able to tell us exactly what is causing Caleb's regression in skills.  We were told in January of 2010 that that may be the case, but I was hoping and praying (and still am hoping and praying) we could find something to help Caleb!

No matter what the end results are, Tony and I know that God is in control and that He chose us to be Caleb's parents.  I am very thankful to be Caleb's mom.  I will fight and advocate for him as long as necessary!