On Tuesday, the 10th, Caiden had an appointment with Neurogenetics to meet the new neurologist (this is our third neuro) and follow up with the geneticist we saw about a year ago now.
Dr. A, our previous neuro who we saw in December, was concerned about Caiden's most recent regression and ordered another MRI (which we had done the end of January). He wanted us to bring both to Dr. P, the new neuro for comparison. His most recent MRI showed changes from the first so there was some concern about what it might mean.
Both MRIs are being sent to radiology so that they can be looked over thoroughly before Dr. P formally diagnoses him with anything. We should hear from her by the end of next week, however she was able to look over them briefly and gave us her preliminary findings.
According to her, the problem with Caiden's brain is likely due to an injury at birth, and most likely not a degenerative condition (yay!). Developmental delays, hypotonia, and toe walking are common in preemies, and a brain injury could possibly explain these. It is clear that one side of his brain is more affected than the other as he has always favored his left side and both MRIs support this. His new MRI showed an asymmetry of one of his ventricles that was not present in the first MRI, along with white matter changes.
The way she explained it, is that the scar tissue caused by the birth injury surrounds the ventricles. As Caiden has gotten older, the brain has replaced some of that scar tissue with fluid. This makes the ventricles get bigger and the brain appear to be smaller, even though its only the scar tissue that's affected (this is pretty much an explanation of PVL, what Dr. A. suggested but never formally diagnosed). He also has excess fluid surrounding his brain in the space between his brain and skull. She doesn't believe this is what's making his head so huge, but its not growing significantly between measurements. As long as the fluid remains the same or lessens over time, and his pressure remains normal, we aren't looking at anything radical like surgery to reduce it.
Aside from going over his MRIs, she also did a full exam to check him out and noticed his hypotonia and toe walking immediately. She's encouraging us to continue all of his therapies and to talk to his physical therapist about whether or not he's going to need braces or special shoes to help with the toe walking. One of his hamstrings is tighter than the other and we don't want it to get any worse.
She also believes that while some of Caiden's issues are related to his birth and prematurity, it does not explain away all of his problems. She has recommended we pursue further genetic testing.
Our geneticist, Dr. W, actually remembered Caiden even though we'd only seen him once before. We met with him after we saw Dr. P. He agrees and also thinks we should have more testing. We already know Caiden has a duplication on his 10th chromosome, but there's not much known about the specific gene. There are a few cases reported where it could be connected to speech problems, but there's not enough research about it to know if this is true in Caiden's case.
He suggested we do an Autism and Intellectual Disability Panel. It looks at 2,000 genes either known or suspected to be related to Autism and ID's. After this test, if we choose, we can do Whole Exome sequencing with looks at all 20,000 genes. We did decide to do the the Autism and ID Panel, but are waiting on whether or not to do the complete sequencing, so he is sending it to insurance for approval. Once its approved, Caiden will only need a simple blood draw, which he does fairly good with, and then we wait. Results can take several months to receive.
One of the things I love about Dr. W though, beside his amazing bedside manner, is he works closely with the medical research facility who will be looking at Caiden's DNA. He has an amazing track record and will actually be involved in the testing process. Should we find something with this test that is not well documented, we have the added bonus of him being able to research the affected gene(s), and hopefully coming up with an answer either now, or years down the road when more information is available. We're obviously hoping for the sooner the better, but we'll take what we can get.
Caiden is scheduled to go back to the Neurologist in a year unless we have further concerns or if she needs to see him regarding what she finds when looking over the MRIs more closely. We did not get a time frame from the geneticist about how long it would take to get the test approved, but hopefully it will be soon.
Caiden measured in at 3'8" and 46.5lbs!