I’ve been a little vague so far about the boys’ condition. That is for a number of reasons. We aren’t even sure what their condition is. If it is what we think it is, we don’t understand the severity yet. And with the limited time we’ve spent researching and talking to doctors, I don’t feel equipped to provide educated answers. So bear in mind this is just our best assessment at the current time. I will correct and update as we learn more.
But I want you to hear what we are hearing.
So…here’s the technical side of what we are looking at:
At the follow up ultrasound with the specialist, we uncovered these anomalies:
-Absent Cavum Septum Pellicidum (Absent CSP)
In isolation, this does not have to be a huge issue in and of itself, but is often a marker that some other brain malformation exists.
-Agenesis of the Corpus Callosum (often called ACC)
The CC divides the brain in to hemispheres, and helps each side communicate with the other. It transfers motor, sensory, and cognitive information between the brain hemispheres. It is also involved in eye movement, and maintaining attention.
-A gap in the Cerebellum (often referred to as Dandy Walker Malformation)
The largest role of the cerebellum appears to be motor related. Although it may also play a role in some cognitive functions (attention and language)
In addition, their amniotic fluid levels are “too high”. I don’t have a number for that, and that can be an indicator of a number of things, but ours is likely due to the brain issues.
The most likely diagnosis seems to be Dandy Walker. I don’t know whether we should call it the full blown syndrome or not. I think in order to be diagnosed with the syndrome, a given number from a certain list of other things must be present. Some of those “others” we know for a fact our boys do not suffer from, and for others it is too soon to tell.
The overwhelming thing about Dandy Walker is the wide range of severity. On the mild side, you might not even realize someone has it. Perhaps they missed a few milestones early on, but they eventually met them. Perhaps they’ve had a learning disability, but they are high functioning enough that you didn’t realize how hard they were working at it. On the serious side, the brain might have such low function that the communication to the organs isn’t even keeping up, or the brain continually fills with fluid and requires draining to sustain life. And sometimes…life just isn’t sustainable.
We are quietly being led to believe that the facts aren’t lining up for us to be on the mild side. The boys’ ACC appears to be completely missing, as opposed to partially missing. And since they both have it, we are dealing with a rare chromosomal fluke that was set in motion the second the sperm and egg met, not some malformation that occurred in utero. We keep reading of success stories. Those success stories are not without challenges and road blocks. But there are people out there with the DW diagnosis who are walking, talking, laughing, loving, and living amongst us. And like us, many of them weren’t given any hope early on either.
Next steps include looking at the blood work (mostly to rule out other things, like Downs or similar trisomies). We have an MRI on Tuesday, where we will get a better look at the boys’ brains. What other issues exist? Did the ultrasound potentially miss things that ARE present after all? Etc.
We are also meeting with another MFM specialist in Columbus soon and we plan to get in contact with a pediatric neurologist as well.
We are going to talk with someone from our pastoral staff.
In the meantime, we’ve decided to be as open and as honest as we can be. This is not a burden we can bear alone. The next few weeks will be long as we wait to meet these precious boys, but our hope is that if we reach far and wide, everyone who hears of L and N will speak to God on their behalf, and ask for a miracle.