We heard the results from the big genetics test finally today. They looked at over 200 genes, all the ones that we know deal with metabolics (about 75 of those deal specifically with mitochondrial function). We sent off for the test back in October; it has been a long wait.
The results did not show any abnormalities. Aside from a few, very minor "spelling" errors (which would be expected in anyone's genetic sequence and which would not cause any trouble near the degree of the severity of Oliver's case), Oliver's gene sequence looked normal.
This was a hard blow for me today. I didn't realize just how much I was hoping for a diagnosis. Not because of any information it might give us but mostly because I wanted a name. I wanted to name the enemy. I wanted to name it and identify it and distinguish it from my son. I wanted a name to pray against, to sink my growling teeth into.
I haven't gotten to speak to the geneticist or the metabolics doctor yet. Hopefully I'll hear from them in the next few days and get to unload my many questions about what it means and where we head next.
This is at least our eighth genetics test since Oliver was born. A mitochondrial disease may still be the best natural explaination for Oliver's condition, but maybe his specific kind has just not been identified yet. I'll post an update after I hear from the doctors.
Thank you, as always, for your continued prayers and support. The little notes, unexpected gifts, and blessings of service to our family is so nourishing to our souls, thank you, thank you.
The results did not show any abnormalities. Aside from a few, very minor "spelling" errors (which would be expected in anyone's genetic sequence and which would not cause any trouble near the degree of the severity of Oliver's case), Oliver's gene sequence looked normal.
This was a hard blow for me today. I didn't realize just how much I was hoping for a diagnosis. Not because of any information it might give us but mostly because I wanted a name. I wanted to name the enemy. I wanted to name it and identify it and distinguish it from my son. I wanted a name to pray against, to sink my growling teeth into.
I haven't gotten to speak to the geneticist or the metabolics doctor yet. Hopefully I'll hear from them in the next few days and get to unload my many questions about what it means and where we head next.
This is at least our eighth genetics test since Oliver was born. A mitochondrial disease may still be the best natural explaination for Oliver's condition, but maybe his specific kind has just not been identified yet. I'll post an update after I hear from the doctors.
Thank you, as always, for your continued prayers and support. The little notes, unexpected gifts, and blessings of service to our family is so nourishing to our souls, thank you, thank you.
praying and believing in the healing power of prayer! may a miracle meet sweet oliver!
ReplyDeleteblessings and love to you all!
zac, tia, logan and benny
Oh, Sonya! My heart hurt for you when I read this. I pray God gives you something to "sink your growling teeth" into, but for now, I stand by you in prayer against a Mystery. I'm thankful that our Father knows, and I pray He continues to give you and Joel the strength to navigate through these twists and turns.
ReplyDeleteI am continually amazed and thankful you are being held up as you are. You both show such incredible grace in the parenting of your three children, even in the midst of the difficult "normal" you've known for the last year. May God continue to pour it out.