In the midst of fertility investigations, you’ve diagnosed your patient as having a common chromosome disorder. You may only be concerned about the fertility implications, but this is a combined diagnosis which must be managed sensitively. Sadly, it rarely is.
This is probably the worst possible time for your patient to discover what was wrong with them all those years. As it’s come in the midst of trying to start a family, they will find themselves focussing all their energies in that direction.
Initially, after the shock of the first prognosis has worn off — often, an unsympathetic “get over it” — they may be moved to pursue novel conception interventions privately. If that’s unsuccessful, they may consider fostering or adoption, and thus embark on an emotionally draining assessment.
Most likely it will be years before they’re ready to understand the implications of the other elements of this combined diagnosis. By the time they’ve understood that it was more than a fertility or endocrine condition, they will probably have struggled through life as a result of various neurobehavioral and psychosocial difficulties.
I understand interventions are more joined up nowadays. I’m glad. The individual diagnosed in adulthood will have lived with years of insensitivity to that point, be it from peers mocking their face, form and character, or others frustrated with their intellectual and emotional immaturity.
This is the one time sensitivity will make all the difference. This could be the moment they begin to get their life back on track. Or it could be the moment that breaks them.
Last modified: 22 September 2024
