A Day In My Job-To-Be

On Tuesdays and Wednesdays I have no control over the news to be delivered. I know nothing about families except the most personal part of their lives and probably the worst. I see the struggle. misery, depression and very rarely acceptance. All they want is an explanation to why their child, and in some cases children, are the way they are.

Looking straight into their anxious worried eyes, we thank them for taking the time to come and see us. We start by taking their family history and we embark in asking very personal questions, wanting every detail. They answer our questions and watch us draw circles and squares connected with lines. They don't understand why we have to ask about their 3rd cousin once removed from their maternal grandmother's side.

We reach the part the parents are here for, we try to explain the disease and what the affects are in simple terms. While explaining, we ask them if they noticed these symptoms in their child to help them understand what we're saying. Then comes the harder part, explaining the inheritace. You explain that the disorder their child has is a result of inheriting a mutated gene from each parent in the case of recessive inheritance. You could imagine the way they think, that it's their fault. It's not. You get the occasional "but we haven't seen a similar case in the family before" and you continue explaining the probabilities of having an affected child being lower than that of a "normal" one. It's a matter of luck.

We then go on with our bad news. That there is no cure for their child but the child was able to give us very crucial information. We tell them of their options for future pregnancies but we make sure that we mention the success rates and how difficult and lengthy the procedure is. 

Finally, we ask them not to blame themselves. They couldn't have known such thing will happen. We encourage them to tell the rest of the family to come and test for the same mutation. We tell them how much of a good job they are doing with their child. They leave with the relief of knowing the problem but still with a cloud over their head.