Monday, Dec 11th

Well we’ve had a very interesting few weeks. Last week Nathan got sick, and we were afraid he might’ve had a shunt infection. We rushed him to emergency and they ran a million and one tests to find that all he had was a virus. It was great news that he didn’t have anything serious, but unfortunately he had to have a lot of medical stuff done to him to find that out. But we’re very happy it wasn’t serious.

He’s been home for a week and he’s been doing a lot better.

Visit to the Carter Center at Stanford

Today we had Nathan’s visit to the Carter Center. He was evaluated by a psychologist and a neurologist. The psychologist was very happy with what she saw and said that his social and communication skills are on target for a 4 month old. He was in a great mood, flirting with everyone and just having a great old time.

Then the neurologists went over his MRI with us and explained what everything meant, what areas of the brain are fused, not fused, etc. They explained that apparently he does have his vision processing area, but it’s pushed forward because of the dorsal cyst. They confirmed that the level of severity is somewhere between alobar and semi-lobar, as there is very little separation of the brain. They also explained that they don’t expect his brain to expand considerably due to the shunt surgery, as the gray matter that he does have doesn’t look compressed.

One thing that was pretty encouraging is that they told us a story of a girl who was evaluated when she was in high school due to behavioral problems. As part of the evaluations they did an MRI and discovered that she has semi-lobar holoprosencephaly. So it is possible for someone with this condition to have a relatively normal life. Generally the Carter Centers see the most seriously affected people, as those are the ones where something is obviously wrong.

The cause of Nathan’s condition

We also recently found out that the reason Nathan has a brain malformation is that he has a genetic mutation. They don’t think it’s hereditary, but Owen and I are getting tested to confirm that. He has a mutation in the ZIC2 gene, which affected the development of his brain. This is something that happened in the 1st or 2nd week of gestation. I don’t really know too much about it, and they didn’t say too much about it at the Carter Center.

They did say it is the cause of fewer than 3% of cases of holoprosencephaly, so it’s very very rare. Another thing we found out is that this is what explains why he doesn’t have facial anomalies. Apparently when the brain malformation is caused by ZIC2 it affects the posterior part of the brain, which isn’t related to the face. Unfortunately it indicates that in his case, the face does not predict the brain.

One other thing that they mentioned regarding ZIC2 is that generally people that have brain malformations due to this genetic mutation, do not have other health problems. Typically other organs are not impacted, just the brain. So genereally it means that he may have a better life expectancy. So even though he may have good health, it doesn’t say anything about how much he will develop.


In terms of development, we weren’t given any new information. The neurologist at the Carter Center didn’t say anything about whether he would be able to walk, talk, learn, etc. Again, they said it was a “wait and see” situation.

They suggested that we continue with Nathan’s therapies, making sure he’s receiving a lot of physical and occupational therapy. They suggested we learn sign language to help him communicate. Basically, the more therapy he undergoes, the more what he does have of his brain will be maximized.


Thanks so much to everyone that has been praying for our precious boy, we are just so grateful. Your support is greatly appreciated.

Speak Your Mind