If you read my post "Diagnosis" you are aware that Oaklynn didn't only test positive for Rett syndrome but she also tested positive for Smith-Magenis syndrome. The people at the lab said they have NEVER seen both syndromes in a child before and that she for sure had it since her genes said so.
The geneticist thought that maybe there was a possibility that Austin or I had that positive variant in our genes as well and wanted to test us. So if Austin or I tested positive for having the Smith-Magenis variant in our genes, that would mean that we passed it to Oaklynn. Since we don't have the symptoms of Smith-Magenis (only have the genetic variant) than that would mean that Oaklynn just has the variant as well and doesn't really have Smith-Magenis syndrome. If we did not test positive then she would have Rett Syndrome AND Smith-Magenis syndrome and be the only child to ever have both.
We did the blood work the mid-March and right after Kynslee was born I called the geneticist to see if the results were in and if we could move the appointment sooner (we had it scheduled for the end of April). We were told that the results were in and I left a message with her assistant to move the appointment sooner. Oaklynn's geneticist called (and of course I didn't hear my phone) and left a message saying that one of us tested positive for Smith-Magenis syndrome!
So this means that Oaklynn DOES NOT have Smith-Magenis syndrome. She does have the genetic variant (as does one of us) but she does not actually have the syndrome even though her genes show it (because one of us has the positive variant but doesn't have the syndrome).
I hope this makes sense... it was a little confusing to me at first. If you have any questions, please ask!
**For those who are wondering... we do know which one of us has the positive variant but we aren't sharing that information because it doesn't matter. So please don't ask**
4 comments:
So glad you guys figured this out. And you're right, it's doesn't matter who has it. Glad we can now focus solely on Rett for Oakey.
Glad you guys got it figured out. Your girls are too sweet, hope you are adjusting well to two kids. I talked to Briene last night and she said you were doing good, tired but good. Please please let me know if you need any help! Dinner, lunch, someone to sit with the girls while you nap or whatever. Prayers still coming your way.
Well, I'll tell you what. You've both been tested for big, loving hearts and endless faith and you both (you & Austin) have both BIG time! That's all that matters. Loves.
Im so confused Me and my husband got tested for SMS and i came out positive and he nurse said is stronger than positive so im going crazy worry. Does this mean my baby is going to have SMS?
Post a Comment