Jilli had PT this morning (her o2 was better this week which is really nice) and then we stopped at my work because my boss found a Little People wheelchair and I have been looking for one for Jilli to play with her Little People and have been having a hard time finding one so when my boss stumbled on one she set it aside for Jilli. We were leaving and it was raining. We got just about to the park in ride in Elkhorn and my phone rang. I was not going to answer it but it showed Children's number so I pulled into the rest stop and answered.
It was the muscle and connective tissues genetic counselor. She said they had results back and was wondering if I had time to talk.
She said the the muscle biopsy results were back and they found a variance. She said it is super rare and they don't know much about it. She said it has been seen a couple of times in test samples of people with no symptoms however Jillian's variance might mean something. She stressed multiple times how rare of a variance it is. She said that sometimes different muscle cells in one person can have different variances but all of Jillian's mitochondria have this same variance. (Mitochondrial DNA is not the same as the typical DNA you think of) She said we might have found or needle in the haystack, but at the same time this could be nothing. The problem is not enough research has been done on this variance yet to know if it causes issues and if it does what those issues are.
I asked if I could get a copy of the test and she said that I could get that during our next genetics appointment, which is not scheduled because they cancelled the one we had scheduled for November. She said that they are still waiting on the genetic counselor for the exome sequencing to get her testing back and then they will call us and schedule an appointment and that will be sometime in the new year. She said at that time she will also meet with us and give us any additional information she finds about this variance.
Right now I am numb. After I hung up we got onto 12 and drove to Target. I had promised Jillian that we could go to Target if she worked hard in therapy today because last night we had Thanksgiving here for Brent's family and his mom kindly brought Jillian some Barbies but two of them didn't have clothes and Jillian only had princess Barbies that come with their princess outfit so we didn't have any extra clothes here. Jillian worked really hard in therapy even when she was really tired at the end so we went to Target on our way home. It was raining as we got out and I was so thankful to a kind stranger who helped us get a dry cart. We went and got some Starbucks since our coffee maker decided on a rainy Monday that I didn't need to start my day with coffee and by 1:00 I was really needing some coffee. We found some Barbie clothes and headed back to the car. That is were the phone call hit me. I sent a text to a couple of people letting them know about the phone call and then headed home.
I don't know what to think. My head is swirling. This could be our answer but she also told us this could mean nothing. I don't know anything about the variance (if it has a name, where it is at in the mito DNA) so I can't research it. I don't know what other complications this variation might bring. There are many frustrating parts of having your kids be undiagnosed but no one also has any guesses about the future and now we might hear that, and that is both exciting and very scary. My heart has also been let down so many times over the years of doctors thinking they know what is going on only for it to not be it that my heart has been scared and is a little more hesitant when they come to us with a maybe.
So, as it looks right now we just have this random information to sit on until at least January. I guess it is probably good that our December is busy so that my mind will be distracted and I think for right now I am going to rock a baby to sleep and then work on wrapping Christmas gifts because Brent and I are almost finished Christmas shopping and I have time today to wrap.
I will try to blog sometime this week about other things going on right now. We spent some time at Children's and rmh last week and tomorrow Lydia has her PT eval...
But if you see me in the next few days and I just seam off... I'm processing and my head is swirling (and might be running on minimal coffee) and I don't mean to be short and distant and please accept my apology now if while I process I am a little out of it.
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