We received some pretty intense news today. They had done a few different genetic tests on Jackson when he was in the NICU. One of them only came back recently and it turns out that Jackson has Simpson Golabi Behmel Syndrome (SGBS).
It’s hard to explain all the details (the internet can help you out on that one) but the nutshell version isn’t all that pretty.
What that means could be an extremely wide range of things. First, he has several physical symptoms of the Simpson Golabi Behmel Syndrome (SGBS) (which is why they checked for it) like the cleft lip and palate, a sacral dimple, etc. But that is all that is noticeable. He doesn’t seem to have any of the other major physical symptoms as of right now.
It could be that what he has now is the full extent of what will “present” in this case and he will be completely fine, and you’d never know.
It’s also extremely likely that he will exhibit some degree of mental retardation in the next few years as he starts to develop. Again, he might not, or it could be extreme. There’s no way to know until the time comes.
On the other side, kids with Simpson Golabi Behmel Syndrome (SGBS) have a extremely high rate of tumors (usually in the kidneys), heart arrhythmias and other major problems. It is also a possibility that he could die before he even turns 2 years old with no warning or explanation due to heart issues.
If he does only exhibit the symptoms he currently has, then we have no idea what the mortality rate and life expectancy are. We’ll know more after we meet with genetic counselors at CHLA.
This looks like another one of our familiar scenarios where we’re presented with “either he’ll be fine, or he’ll have severe mental issues and die before he’s two” extreme options.
That’s about all we know right now.