The threads of life
July has been an interesting month. I have been writing exclusively about FODs this month in recognition of it being FOD Awareness Month. I went to a FOD conference at the start of the month at which I met many other FOD families and spoke with geneticists there. Both Republican and Democratic Conventions are over. Today is my younger daughter's birthday and as I thought about her and my family, and the family speeches I heard, I reflected on how strong the pull of family and genetics really is.
Regardless of political affiliation, no one can deny the power of having a grown child speak on behalf of his or her parent.After all, these are people who once threatened to run away from home with the family dog! And the acknowledgement of mothers is a common theme during presidential elections. We recognise that we are who we are because of who raised us. As I struggle through the genetics of my subject, I find that is true in more than one way.
When my grandson was found to have CPT II, one of the rarest of fatty acid oxidation disorders, we were all baffled. No one on either side of the family had this as far back as we could trace. Both my daughter and her husband are pictures of health. Both their other children are as well. How could our family harbor a killer without knowing? When we found that the disorder is inherited in an autosomal recessive pattern we were doubly confounded. What are the chances that two people, from different countries, even, would meet and exchange this odd mutated gene?
My research has provided some answers.
First, while each disorder is individually rare, (the most common, MCAD, occurs 1:10,000 people), scientists estimate that up to 12 million Americans are heterozygous (carriers) for some FOD. Second, we didn't see this in our families, perhaps, because we weren't looking for it, or were looking in the wrong places. And finally, In the same way that our family relationships are complex, our genetics are not simply whole or mutated, but are similarly complex.
With new eyes, I searched my family and found one thread wound around several of us. I, one brother, and our mother, all have experienced unexplained hypoglycemia, the premiere symptom of CPT II and many FODs. Hmmm, I thought. I read of how the body strives to survive so that when a liver is severely compromised by a FOD, it sends out signals to the kidneys to take over fatty acid oxidation, a role for which the kidneys are ill-prepared and one which in rat studies eventually made the rats develop type I diabetes, the disease that ultimately killed my brother's daughter. Threads.
As I work to complete my book on this topic, I have come to appreciate the intelligence, dedication, and research of those who work in this field. It is not easy. Studies are really hard to do; their patients often die; there are many unknowns and few therapies. I have also come to appreciate the families who deal day to day with disorders that disrupt their lives. They go sleepless to feed their infants around the clock. They revise their diets, not for their waistlines, but for love of their children. They learn to read and understand complex academic papers so they may do the absolute best for their children. And, I have learned to look beyond the obvious, to see the threads of life we all carry, both good and bad, physical and emotional. I cannot help but think these make us better.