Reasons for early screening
Regarding the early benefits offered by newborn screening, there is a mixture of opinions. Some people say they would’ve preferred to find out about their children’s condition once the symptoms started showing up and other parents say it was helpful for different reasons. Some of the most relevant reasons stated are:
- An early diagnosis allows preparation for the future. Most households are not conditioned properly in order to serve as home for people with Duchenne. Adapting their home early is one of the benefits offered by a timely diagnosis during the first stage of life.
- Acknowledging this type of conditions is very important at the moment of raising a child. Parents that knew the kid suffered from Duchenne didn’t push him to do stuff they knew he wasn’t able to.
- Family planning, changing working hours, informing all family members; all those kinds of preparations were possible thanks to knowing about the condition beforehand.
Although it remains as a personal decision, the benefits from an early acknowledgement of Duchenne are undeniable. And they are possibly going to increase in a near future do to the development of different treatments that may be more beneficial when administered early.
This tests move medical procedures one step closer to a definite newborn screening test for Duchenne. If new ways of testing it keep coming around, each one more accurate than the previous one, in a matter of years there will be a test with more than 90% of accuracy and this will increase credibility enormously
Regarding the general landscape for people with Duchenne, it has never looked as promising as right now, advances are going to sooner or later place early diagnosis as the definite best option for diagnosis due to the amount of great opportunities for treatment of enzymes. It’s just a matter of time until science finds out how to delay the effect of enzymes in the development of clumps and therefore, a solution will sooner or later appear.