Joel, myself, Lauren, Logan, and Nurse Brenda loaded into the van this past Wednesday and headed down to Mayo Clinic in Rochester, Minnesota to see a neurologist. We saw this same doctor two years ago after being referred by our primary neurologist. Originally we scheduled this appointment to discuss treatment options for Logan's abnormal movements.
This appointment was made months ago before the MRI that will forever change our world. This visit then morphed into a bit more as the MRI indicating brain degeneration was placed in front of this doctor. The appointment seemed to last forever but I know it was quick. I could tell the doctor was in a hurry but wanted to spend adequate time with us and answer all of our questions.
We discussed Logan's medical history and all the changes since she last saw him. That part always seems to take forever as there have been so many changes. The rest of the appointment was all over the place in my mind but I think it was more from feeling overwhelmed.
We talked about what testing has been done and what is pending. She didn't quite agree with the path of Exome sequencing as she feels that may miss variations in the genes that occur. She was frustrated because she thought our geneticist was going to perform some more mitochondrial testing. I think there may have been a miscommunication between the two of them as I was under the impression that genetics was going to perform their testing and if all came back negative we would go back to Mayo for more tests.
I had to quickly put this aside in my mind and stick to the questions I needed answering. Those logistics and missed opportunities can't be dwelled on as it is in the past. We discussed the possibility of Logan having a mitochondrial disorder. She feels we have a 1 in 4 chance of having another child with the same undiagnosed disorder. I appreciate that she had the balls to say this to us as no one had done so before. It has always been a concern in our minds and to know the possibilities (not an absolute) we are now able to make more informed decisions about our future. Maybe no more babies from my womb but there are other ways to have children! I say that knowing that we are truly done. We are lucky to have Lauren and Logan and that is enough for us. Don't get me wrong, it was still gut wrenching to hear this out loud. I felt as though my uterus shriveled up and died in that moment! Dramatic, I know but I can't help it.
After that hurdle we went back to mitochondrial talk. She talked about how he had previously had a mutation found in his mitochondria two year ago. She said the lab that performed the test could not determine if this was significant and thus wanted to test me. I am learning that mitochondrial disorders are passed from the mother. This mitochondrial stuff has nothing to do with sperm! Whatever! Do the mom's have to do everything including pass on life threatening illnesses? Come on, that's just not fair.
Anyways, she said they had called my insurance company, Health Partners who denied covering me for this test. It would cost about $700.00 per this doctor. All information I was not aware of until yesterday. Come on people, this would have been nice to know as I felt mitochondrial was significant early on. There were many mitochondrial disorders that seemed to fit Logan's symptoms and still do. Two years ago I was convinced it was mitochondrial and had allowed myself to move away from this possibility as we saw more doctors that led us down different paths.
So we sat at this appointment and I felt that more uncertainty was placed in our laps. Were we on the right path? I was feeling as though I should have went with my gut so many times over the past couple of years. I had wanted to go back to Mayo but felt that we were being sent elsewhere for a good reason. Our geneticist is amazing and she has gone to great lengths to help us on the diagnosis quest. I don't think she would ever lead us astray, she only was doing what she thought was best. I mean obviously Logan has stumped a few doctors, oh wait, every doctor he has ever seen. So I am really working hard to not dwell on the shoulda coulda woulda's. At this point, a diagnosis would not fix Logan.
Now back to what is going wrong in his brain. The Mayo doctor agreed that Logan will continue to have functional decline. He will lose skills, his tolerance of activities will decline, and his ability to fight off illness may become impaired. Beyond that, we have nothing more. No idea how it will go or how much time we have with Bubba.
Lastly, she is going to consult with a colleague who specializes in movement disorders and see if he can recommend any treatment options for Logan's abnormal movements. When Logan is awake, his hands and feet writhe and his arms and legs flail. His face seems to constantly be moving including his jaw. He looks uncomfortable and frustrated especially when the movements are worse. Thankfully they do stop when he sleeps.
I think I have covered the highlights of the appointment. I am still piecing it together in my own mind. It was one of the toughest weeks of my life. I went on a whirlwind vacation last weekend. Came home and jumped right back into mom mode. We saw palliative care on Monday. Had a visit with our case manager Tuesday and then saw speech therapy to evaluate if Logan should pursue this again. We went to Mayo Wednesday and had a visit from our physical therapist on Thursday. Friday came and I was fried head to toe, inside and out!
As I drove to work I saw a missed call on my phone. It was Logan's primary neurologist checking in. He asked me to call back. I did and he answered the phone right away. I was impressed. He asked how our visit with Mayo went and how things were going. He knew we had a tough week. He was very kind and spent a good amount of time on the phone. We discussed how Logan's MRI has degenerative changes and that his future cannot be predicted. He said if we had a diagnosis we may be able to have some idea of how things will go. For now, we are blind to what the future holds. He said this cannot be fixed. I asked what he would recommend for Logan's future in regards to activities and therapy. He said to not restrict him and to follow his lead. If he is tired, then stop. He did not feel activities such as therapies would worsen his status, he encouraged it. Whew! That was good to hear.
It felt like he said he was sorry a million times. I have heard a lot of people say how annoying that is. I guess I don't feel that way. I am sorry too, and guess what, I am glad other people are because this sucks. So the conversation came to an end. I was very appreciative of his time and honesty. He is going to work on getting us in to be seen in the next couple of weeks once we have the Mayo recommendations. Honestly, I could care less if we went to another appointment with anyone right now. I am exhausted. There has been so much to process and this is just the tip of the iceberg. Joel and I have just scratched the tip of the surface and have so much more to talk about. We have a lot of tough and unfair decisions to make in the future.
So I sit here wanting to write for days. Wanting to spill my guts but it is too painful right now. I am tired of crying and I don't want to be the victim of an unfair roll of the dice. We are still living and we have to live it with all we've got. But honestly, there have been more days where it seems easier to be on autopilot then to choose more. My house is a mess, I am behind on more than I can put on a list. What a funk. I know it will get better but right now it hurts so bad. So I will leave this post to end here as the rambling is in high gear! This blog is in for an emotional roller coaster.
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