Saturday, April 3, 2010

Contemplating Maternal Inheritance

My own birth and beginning in life was complicated. I was hospitalized and there was great concern about my well-being. Obviously, I recovered and am still here today, and I was too unaware of the situation at the time to really understand what happened in any sort of detail. Fortunately, my mom kept a medical journal for me. I wish I had started this tradition when my own children were born so that I would have a more detailed account of the history that we have had with each of them.

I remember when I was very young being at a specialist's office with my sister. I don't remember much about the experience, except that the doctors were checking her throat and the bandages that were there. She is only about 19 months older than I am, and was born with over 90% of her body being covered in port wine stain birthmarks. Doctors were so concerned that they gave my mother very little hope that she would live past the age of two. And remarkably, this sister is also still alive today more than three decades later. Through adolescence, her body began to grow asymmetrically. She is constantly dealing with hemanginomas. She has had a variety of her own medical events over the years. Recently, she began to lose her hearing, found to be sensorineural hearing loss, and had other symptoms to raise concern about possible MS. An MRI did show some demyelination, but she has not had further testing for MS markers.

Waiting for the results of the whole mtDNA genome analysis on my youngest child has me thinking back over the extensive medical history of my own, my sisters, and my mother. Mitochondrial DNA is inherited only from the mother. There are a variety of patterns of inheritance for mitochondrial disease, but if the disease is caused by "mutant loads" of mtDNA, this would be maternal inheritance.

I know so little about such a complex topic. I am trying to understand more as we wait for these results. If the testing does not give us any answers, I won't know how to explain the medical history in my family. It is unsettling, and I am glad that awareness for the "orphan diseases" is increasing. Perhaps if we do not find answers now, technologies will improve enough in my life time to offer definitive results.

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