Genetics

Today we saw the geneticist. Logan did great. He was a little upset when we got to the clinic but did great otherwise. I had Kim with to help hold him so I could talk to the doctor. We started off the appointment talking about his history and what tests had been performed. Right off the bat the doctor starting spinning her wheels just looking at Logan thinking about the possible diagnoses. Then the doctor had a member of her team that sat and went through our family tree and discussed family members medical histories. They asked a lot of questions about my niece, Sarah who passed away in 2008 from a suspected neuro degenerative disorder.

After the family history the doctor came back and did a physical exam. She had nothing new to add regarding his physical exam. She asked if anyone had looked into Angelman syndrome. I have looked at this in the past as our neighbor Kayla had mentioned it once.

She said she is going to contact our neurologist to discuss where is he going with the neurotransmitter testing. She is going to also contact the neurologist at Mayo to discuss the mitochondrial tests that were run. She talked to me about how one of the mitochondrial DNA tests showed an abnormality and that this showed up in every single mitochondria tested. She said this is not a normal finding in an abnormal test result (does that make sense?) and that she wanted to find out more from Mayo. I found this interesting as Mayo said their findings were normal. She did discuss a little bit about mitochondria and how they can dysfunction in a couple of ways and that what was seen in his testing was not the normal way of dysfunctioning.

She asked that I get records from my sister about my niece particularly her MRI results. She also wants Logan to have another MRI and more blood work. She is going to wait and have the blood work taken when he is under for his MRI. This will ensure a good sample is taken and put him in less pain. She also wants to wait to have it drawn until the MRI to give her some time to think about what she wants to test. She is going to discuss Logan with her colleagues on Friday when they have their weekly care conference. She did seem a little puzzled by the end of the appointment. I think her initial excitement had diminished as she talked with me further about Logan. She said point blank that we need a diagnosis to know what his life expectancy will be. She said she may not be the one to find a diagnosis but that she is going to do her best. When she said she is going to do her best I could feel and see that she really meant it. She was open and honest and had a plan. That's my kind of doctor! I don't expect miracles, I just expect people that will give it a good shot and not give up until the options are exhausted.

So for now we wait until they call with the MRI appointment and I work on getting my nieces records. I am glad they are taking her history seriously since there are many similarities between her and Logan. I just wish she was still with us so that we could be on the hunt for a diagnosis for the both of them. But I know that she is up in heaven pulling strings for her cousin and cheering him on!