After greeting my patients, I always ask who referred them to my clinic. Do you know why?
You will not believe it, but patients wait months and months until their genetic clinic appointment, but rarely can they tell me exactly why they were referred and what they expect from the clinic visit.
I describe the geneticist role as a puzzle solver. Individuals are often referred to the genetic clinic when they have more than one thing going on...
Physicians refer babies with birth defects such as cleft lip or palate, heart defects, kidney malformations, extra digits, etc.
Individuals with neurological problems, cancers, abnormal features, family history of a specific condition, and much more.
As geneticists, we try to fit all the pieces of the puzzle together and come up with one diagnosis. “An explanation.”
However, no matter what the referral reason was, in the genetics clinic it always starts with blame. Is it Mom’s fault? Dad’s fault? Is it because Mom ate strawberries during the second trimester, or because the parents fought all the time and there was too much stress?
Our kids’ genetic material comes 50 percent from Mom and 50 percent from Dad.
If a kid has “something,” then the general notion is that someone is to blame... Mom or Dad or both.
I always start the visit with the same monologue ― we have trillions of cells in our body. In each one of them there is the nucleus ― the command center of the cell.
The nucleus lodges our genetic material, the long strand of DNA that contains all our genes. These are the instructions for the human body.
Our genes come in pairs ― one from Mom and one from Dad.
We all carry some genetic changes that are called mutations. Carriers have one normal copy of the gene and one abnormal copy of the gene.
If we have a child with someone who carries a genetic mutation in the same gene, we are at risk of having a child with a genetic condition.
Nonetheless, sometimes genetic changes, “mutations,” occur as a random event when the egg or the sperm are formed. Sometimes it’s enough to have one mutation on only one copy of the gene and still have a genetic condition.
I know it all sounds very complex, and often it is.
However, my point is that blame has no place in the genetic clinic.
We are all carriers of some genetic conditions; however, mutations can also occur randomly, and we have no control over it.
More often than not, we do not know that we carry a genetic change until we have a child with that condition.
Phrases like, “I should have thought twice before marrying him,” and “I should have looked at her family and realized what I was getting into” are hurtful and add unnecessary burden to the situation, which is often difficult as is.
So as you can imagine, the clinic visit is rarely purely medical. In the clinic we deal with people, not conditions. Real people that hurt and blame and seek comfort and hope.
I know that I cannot fix it all, and that when parents leave my room, the blame still hangs there, heavily between them, no matter what I say.
Many years ago, Hippocrates said, “Cure sometimes, relieve often, comfort always.” This I can always try to do.