#apaperaday: Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy

A paper a day still on tour with a paper on racial and ethnic differences on time of diagnosis and care for Duchenne patients to align with the PPMD USA summit keynote on this topic. Paper by Mann et al in Neuroepidemiology DOI 10.1159/000528962.

Duchenne is a severe progressive disease. Multidisciplinary care can slow down disease progression and the sooner this is started the more the impact. Thus early diagnosis is important.

Authors study Duchenne care milestones and how they differ between different ethnicities (non Hispanic white, Hispanic and non Hispanic black) in the USA based on retrospective analysis in 682 patients from Arizona, Colorado, Iowa, west New York, Georgia & Hawaii from 1982-2015.

Non Hispanic black patients were diagnosed 2.3 years later than Hispanic & non Hispanic white patients. All care milestones are delayed: initial evaluation, first visit to neuromuscular clinic, diagnosis, first ECG, steroids offered, steroids started and first pulmonary exam.

Note that because steroids are started later these patients are more at risk for early pulmonary and cardiac problems (while they are offered later!). For Hispanic patients the delays are less but for steroids there is still a delay.

Authors discuss that different barriers may exist for the non Hispanic black group based on distance to neuromuscular centers, socioeconomic status, cultural differences etc. Sadly a delayed diagnosis means delayed care and delayed steroids and faster disease progression.

This is something that has to be improved. This paper has a sad message because all Duchenne patients deserve optimal care regardless of race or ethnicity. Authors discuss that physicians are currently better trained in cultural awareness which hopefully will improve things.

However other efforts are needed too. If a family has no money for gas they won’t be able to even attend a neuromuscular clinic. While the message is sad, I commend the authors for doing this research and raising awareness. This inequality needs to be changed.

And as was discussed yesterday at the PPMD USA summit: when therapies are approved they should not only be offered to the well informed in the loop well of families who ask for them, but also to those that are not in the loop for whatever reason.