Currently, most children with Duchenne remain undiagnosed during the presymptomatic stage (when children show few, if any, symptoms) unless there is a family history of the condition, or unless blood tests are done for other reasons. Symptoms such as delayed walking and crawling or speech are present, but are typically subtle and are often unrecognized at this stage.
Parents are often the first to notice differences in their child’s development, the first to ask questions and the ones requesting further testing to explain perceived developmental delays. The American Academy of Pediatrics has develped a tool to help parents evaluate their child’s development, look for possible delays and to address these concerns with their primary care providers. This tool can be found at: motordelay.aap.org
Psychosocial and emotional support is extremely important when a new diagnosis of Duchenne is confirmed. Receiving a diagnosis of Duchenne is tremendously difficult. There are so many unanswered questions, and families often feel alone and overwhelmed, with few places to turn. Primary care providers and neuromuscular specialists can be especially helpful during this time, facilitating connections to appropriate care and advocacy organizations that can help to provide the resources, information and support parents need to help themselves and their families. In the US, PPMD has developed a special page with resources parents can use to help during the first 3 months of a new diagnosis (www.ParentProjectMD.org/Diagnosis). In the UK, Duchenne UK have produced a guide for newly diagnosed families (https://www.duchenneuk.org/Pages/FAQs/Category/what-to-do-when). Muscular Dystrophy UK (MDUK) have a range of resources available (https://www.musculardystrophyuk.org/about-muscle-wasting-conditions/duchenne-muscular-dystrophy/duchenne-resources/). In addition, both PPMD and the MDA in the US have resources available for communicating with children, siblings and extended family about the diagnosis of Duchenne. Connecting with local advocacy groups will help you to know what resources are available.