In our village in Chad, Africa, I was surprised and saddened to meet the youngest daughter of Faki Mallole. About five years old, she obviously suffered from Ichthyosis, or “fish skin”. Her mother took full responsibility: “When I was pregnant, I looked at a hippo that came out of the river, that’s why she has the skin of a hippo.” I tried to reassure her that this was not true. After all, this disease is in America too – and there are no hippos there.
I should know; it runs in my family. I have distant cousins in three families with the disease. It is also the “consistent with, but not necessarily diagnostic of” diagnosis of Bethany Ann, our second child who died a month after birth. Congenital Icthyosis Lethalis. She didn’t have a chance. Born with three distinct congential defects, arthrogryposis, possibly a mosaic trisomy 18 and “consistent with, but not necessarily diagnostic of…” Icthyosis. Lethalis. Instead of an inability to slough off dead skin cells, Bethany was born with a near absence of epidermis, yet because of similarities in the deeper layers of skin – and – perhaps because Dave and I are both ethnic Mennonite, a group with higher rates of the disease, this was deemed the most likely diagnosis.
We had genetic counseling, though it did not include any of the now-available kinds of genetic testing. Icthyosis is recessive, “you have a 25% chance of having another child with the disease”. No one in Dave’s whole extended family, to our knowledge, has the disease. We are not related, not even six generations back. Somehow, that 25% chance seemed too big to take, as we were -in turn- but never at the same time, willing to take the risk. We asked ourselves, probably every year for the next ten, whether to try again. We looked into adoption – four times. I asked a female relative what life was like with the disease. “Life is hell”. Once a week, she soaks all night in a bath and physically abrades the dead skin from her body. Not all of life is hell, she is married and is a successful artist. Still, would we take that chance? I was once asked, ”What’s the matter, don’t you have faith?” I do, in science and a God who walks with me, but whose purposes and reasons for intervention/non-intervention are greater than little ole me.
What wouldn’t we have given to know more! Given the more than straight 25% family history (all first children were normal, followed by all the rest with the disease) a “yes” or “no” answer might have given us the courage to go ahead and have more children, or the peace that we had made the right decision not to. We are expecting our first grandchild next summer. Our daughter is, understandably, a bit nervous thinking about her little sis. She has already done the best thing in marrying outside the ethnic Mennonite gene pool. Still, if there were a way to know for sure… I would want to know.
23andme does test for some things on SPINK five and L444P that sound simliar to some of Bethany’s birth defects. Perhaps we can find out more now than was remotely possible 29 years ago when they could not definitively diagnose her condition despite sending samples to several labs. If not now, perhaps it will be possible soon. Why wouldn’t someone want to know? At least, a mother in Chad wouldn’t have to blame herself for looking at a hippo!
More to come.