Genetics

Our highly anticipated second appointment with the geneticist was today. Dr. M had a well planned proposal. She had done her homework! She reviewed my niece Sarah's records, spoke with a neurologist, and reviewed all his previous testing including his most recent MRI. We discussed three different possibilities that could explain Logan's symptoms.

She said he could have a form of Huntington's disease. She thinks this is highly unlikely. Huntington's is passed down through the generations and can occur earlier in life with each successive generation. Joel and I have no close family members with Huntington's.

She said there is a possibility that he shares the same problem as his cousin Sarah. Sarah did not have a diagnosis. Dr. M believes that the normal MRI's for Logan and abnormal MRI's for Sarah are big differences that may prove them to have different disorders. But even that does not rule out the possibility that they share the same problem. Both children have similar symptoms that sound like a lysosomal storage disorder, but Logan does not have degeneration of the white matter of his brain as Sarah did.

Finally, she thinks he may have inherited a recessive trait. This, means Joel and I would have to be carriers of the same gene for Logan to express it. The testing so far has not revealed any major clues. At this point we have to broaden the search. So here is the big take away from the appointment... DNA Sequencing! Dr. M presented this idea and wanted to discuss it at length with us. She said this would require Logan, Lauren, Joel and myself to give a blood sample. They would then sequence our DNA looking for mutations to see if we carry similar genes that could explain Logan's symptoms.

This test is sort of like opening Pandora's box. If we choose, we could not only learn what is causing Logan's problems but also learn what diseases we are carriers of. Do we really want to know? What does someone do with that kind of information? I worry that I would be tormented by all of the possible diseases that could come up in my future if knew that I was a carrier. Yikes! Thankfully we are able to choose what information we would like to know. 

Where do we go from here? We wait until we get insurance approval as this is a 7,000-10,000 dollar test. That will take ten days. Once approved we get blood drawn and wait four to six months. Yes, more waiting. I am still wrapping my brain around how far we have come in our search for answers. Dr. M said she has only ordered DNA sequencing on one other patient and her colleague has only done it a few times.

She said in the meantime that we could go back down to the Mayo Clinic to see Dr. R again to look at the possibilities of this being a mitochondrial disorder. She said she believes we have ruled out a mitochondrial disorder with the testing thus far but admitted that mitochondrial disorders are not her specialty. Not sure yet if we will head back down to Mayo. We will see.

So no answers but some hope for a diagnosis. This is not something to take lightly. I appreciate how determined Dr. M is. I also appreciated her willingness to discuss ideas with me. She is a rare gem! We are so lucky to have her on our side.

On another note, my Grandpa Mervyn passed away early yesterday morning. He fought cancer for two years and put up a strong fight. I did not have a close relationship with him but always knew he loved me. He will be missed by all who loved him. Rest in peace Grandpa!