Here is the genetics plan right now:
1. Head CT. We have to sedate her for this so we are trying to get that figured out. Based on that will determine if we go to see Nero again. We are trying to be able to do her tube change and CT at the same time. I am really hoping for something amazing with scheduling. Finding me a Friday afternoon where we can do both of those things... I know I am asking for a lot but it would be best for her.
2. State insurance will not pay for genetic testing. They said she is a candidate for genetic sequencing. Paying out if pocket will be in the $12,000 range. For now her blood is sitting frozen in case we decide to do that test later.
3. Jillian got bloodwork drawn today to check her carnatine levels. They submitted a script for a supplement in case it is low. They will let us know next week if we need to start it or not. That med will need to be taken 3 times a day...
4. The muscle biopsy is still on hold. This frustrates me. Do I want to send my kid back in the OR... No. Do I feel like we are going to end up doing the muscle biopsy eventually...yes. So I would really like to stop putting off the inevitable. I know they want to exhaust all of the least invasive options first but isn't there a point where the least invasive option is doing the "more invasive" option because the help that it will give the child will be the best thing?
5. The doctor told us that if Jilli gets any bad colds/viruses or high fevers this winter to call their office and they will most likely preemptively admit her for IV fluids and such. I am hoping to not need it at all but it feels good to have a plan in place for the inevitable. It is frustrating to take Jilli to the walk-in clinic sometimes because Jillian does not present a typical case and sometimes I bring her in before all of the wheels fall off the wagon so they do not do much for her and we just have to sit at home and wait until she gets sick enough to be rushed in. He agreed that we should not take her to local hospitals but instead get an ambulance transport up to Children's. As I sit here and write this it kinda hits me. I have a kid that is in a health situation that justifies us making plans like this with doctors and making prearrangement was not our idea, but theirs. It is rather a humbling thought. We kinda just live the day to day and do. We don't stop often to look at all of it or the intensity. Honestly, we can't. But when we do it kinda hits you.
6. We see genetics again in December. This is where I started to get crabby. I want this process to move faster. By the time we see them again she will be 2. That will mark two years of this crazy without a lot of answers to the why. What is the underlying cause. We have a lot of "band-aids" holding it all together... kinda. She is not in immediate danger like she was younger, but the balancing act of her body functioning is held together with a lot of patches that kinda get us by day to day. It would be great to have a treatment plan for a condition instead of treating the symptoms. I want to get this moving so we can do the best things for Jilli. I feel like I am on a slow boat that I could row faster. Jilli is making progress developmentally but it is at a very slow rate. She was officially diagnosed with apraxia this week. That kinda spells out that it is going to be a long slow road for speech. The geneticist was impressed that she has made some gains so he is not as rushed about that but I don't think he understood the amount of work that it is taking to make each little tiny gain.
So that puts me at the point where I am glad we have some plan, because no plan would have really made me mad, however I don't love the speed of the plan.
On a side note, we got to meet a med student today. He was shadowing in the genetics clinic. The poor guy was so scared. The doctor asked him if he would be the one to look at her ears and the poor guy looked so frightened. I told him that Jilli was a good test person for looking in ears because she thinks it is funny. Hopefully doing an ear exam on Jilli makes him more willing to try more... however we kinda spoiled him with an easy one today.
Today my mom and I went shopping for dressed for my cousins wedding. I finally found one after looking at many stores. We found Jillian one too at an amazing clearance at Jaine and Jack.
Now I think I am ready for bed. This next week for me is the equivalent of a retail workers week before Christmas... the most busiest time of the year for teachers. School starts in a little over a week!
5. The doctor told us that if Jilli gets any bad colds/viruses or high fevers this winter to call their office and they will most likely preemptively admit her for IV fluids and such. I am hoping to not need it at all but it feels good to have a plan in place for the inevitable. It is frustrating to take Jilli to the walk-in clinic sometimes because Jillian does not present a typical case and sometimes I bring her in before all of the wheels fall off the wagon so they do not do much for her and we just have to sit at home and wait until she gets sick enough to be rushed in. He agreed that we should not take her to local hospitals but instead get an ambulance transport up to Children's. As I sit here and write this it kinda hits me. I have a kid that is in a health situation that justifies us making plans like this with doctors and making prearrangement was not our idea, but theirs. It is rather a humbling thought. We kinda just live the day to day and do. We don't stop often to look at all of it or the intensity. Honestly, we can't. But when we do it kinda hits you.
6. We see genetics again in December. This is where I started to get crabby. I want this process to move faster. By the time we see them again she will be 2. That will mark two years of this crazy without a lot of answers to the why. What is the underlying cause. We have a lot of "band-aids" holding it all together... kinda. She is not in immediate danger like she was younger, but the balancing act of her body functioning is held together with a lot of patches that kinda get us by day to day. It would be great to have a treatment plan for a condition instead of treating the symptoms. I want to get this moving so we can do the best things for Jilli. I feel like I am on a slow boat that I could row faster. Jilli is making progress developmentally but it is at a very slow rate. She was officially diagnosed with apraxia this week. That kinda spells out that it is going to be a long slow road for speech. The geneticist was impressed that she has made some gains so he is not as rushed about that but I don't think he understood the amount of work that it is taking to make each little tiny gain.
So that puts me at the point where I am glad we have some plan, because no plan would have really made me mad, however I don't love the speed of the plan.
On a side note, we got to meet a med student today. He was shadowing in the genetics clinic. The poor guy was so scared. The doctor asked him if he would be the one to look at her ears and the poor guy looked so frightened. I told him that Jilli was a good test person for looking in ears because she thinks it is funny. Hopefully doing an ear exam on Jilli makes him more willing to try more... however we kinda spoiled him with an easy one today.
Today my mom and I went shopping for dressed for my cousins wedding. I finally found one after looking at many stores. We found Jillian one too at an amazing clearance at Jaine and Jack.
Now I think I am ready for bed. This next week for me is the equivalent of a retail workers week before Christmas... the most busiest time of the year for teachers. School starts in a little over a week!
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