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.
5 comments:
Hi, Halle. I found your blog through cleft talk. I have a 4yo daughter born with BCLP, and these babies with cleft are just so special to me. I just wanted to let you know that your post touched me, and my heart is heavy for you and your family right now as you face such a large range of unknowns. Jackson is such a sweet, spectacular little guy, and I know you must be bursting with pride to be his mama. My thoughts and prayers are with you as you travel this curvy, hilly, rough but blessed road ahead of you.
Blessings,
Jody Fasnacht
mama to 4, including Lily, BCLP, dob 12/17/03, doa 02/13/06
this makes my heart ache. i can't imagine being in your position, but i look up to the strength and grace you have shown in taking care of this little person. my heart goes out to you all.... love.
Hallee, Hey, its Jessi cheatwood, I had time to sit, can you believe it my house is clean and boys are asleep (crazy) i could do laundry but I decided to go thru your old post and found this and I had no idea. We well pray for your little man, he is so sweet and I cant imadgen what you are going thru.
I am wondering if I could put this up on my blog for prayer?
Thanks Jody, Skylana and Jessi. Every day there is a war of emotions going on inside me. Will my son live into adulthood? Or will I have only a few short years with him? The only way I can get thru is to live each day, try not to get ahead of myself, and trust in the sovereignty of God, a God I struggle to believe is good most days. And yet, what other hope do I have? I welcome any prayers you send our way.
"Here is an additional resource about the genetics of Simpson Golabi Behmel Syndrome: http://www.accessdna.com/condition/Simpson_Golabi_Behmel_Syndrome/342. I hope it helps. Thanks, AccessDNA"
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