I have left messages and sent online messages for our genetic counselor multiple times over the past couple weeks and had not heard anything. Today I called the main office line and she happened to be at her desk so they transferred me over.
She told me that she had not seen the report yet but she would check in the computer system to see the progress. When she opened it up she learned that Jillian's test was complete and had results...
They found no know gene changes that would be causing Jillian's stuff. My heart sank. No, I don't want my kid to have some genetic disorder but I have a child on oxygen and a feeding tube... somethings not right. We talked about how there are so many things about genes that they still don't know and while yes she has a disorder, science has not caught up to her yet, this making it so they can't pinpoint where the problem in her genes is located.
I then brought up that we talked last that if this test did not show anything then the next step would be a muscle biopsy. I asked if that was still the plan. She said she did not know and she would have to talk to the doctors but to her that is the logical next step. I mentioned that Jillian is already going in for surgery next week for some GI testing and that it would be really nice that if we are going to do a muscle biopsy that we could do it next week while she is already sedated. This child is only 2 1/2 and has already been sedated 6 times so I would like to limit sedation as much as possible, so if we could combine these two things that would be great.
The genetic counselor said that she would talk to the doctors and see what she could do. She agreed that the best timing to do a muscle biopsy would be during her other tests next week and she would see if she could make it happen. I got a phone call from her a little while later saying that the genetics doctors agreed that a muscle biopsy was the next step and that they agreed that it should be done next week. They sent a message to Jillian's GI doctor asking if they could add this in next Thursday and they are waiting to hear back. If GI agrees then they need to find a surgeon who is able to do it. These are a lot of pieces that need to fall into place in a short amount of time, but we are praying they will all fall together.
While we were on the phone she also mentioned that Jillian's case might be the prime case for research. Between having the muscle biopsy and having all the genetic information that they have on Jilli, she might help them figure out some things with genes that they did not know before that might help Jilli and other kids. In doing a clinic gene test they can only report on things that they know for sure what a gene does however in research they can look at leads and different things. That is definitely something for us to consider.
Today I am trying to remind myself that they only gave us a 30% chance of finding anything with the gene test, but we were hopeful. We want a definitive name for what "this" is so we can best help Jilli.
Prayers that everything falls together for this muscle biopsy to fall into place. Also prayers that it gives us answers.
Today I'm choosing to put this emotional energy into making some Tubie Friends to give to other people going through a situation like us. Jilli and I are going to play her new Bear in the Big Blue House game (we went to an odd little store yesterday that had a Bear in the Big Blue House game, and Jilli LOVES that show however finding anything Bear was a BIG deal cause they don't make anything with Bear anymore).
Just reminding myself that today is just a step in the journey...
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| Trying to figure out Jillian's genetic picture |
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