Congenital Muscular Dystrophy Newborn Screening Awareness Month

Send us Fan MailDespite Congenital Muscular Dystrophy not being tested for at birth, some companies are working on getting it passed.  This is Newborn Screening Awareness Month.  Since the bill hasn't been reauthorized in all states lack of funding could be harming those who are born with new conditions that may or may not be able to be tested depending on the state.  It is important to raise awareness for this important cause.  That is why I have made September about Newborn Screening   Among rare diseases it can be hard to find people with conditions on the newborn screening.    Many still know of newborn screening as the PKU test since it is the first condition that it tested for.  Some also know it as the heal prick.  Newborn Screening now tests for over 75 different genetic conditions as well as a hearing test.  Some conditions also that aren't intentionally tested for may also be picked up.  This episode is mostly about newborn screening, but their are other aspects of CMD as well as the foundation Cure CMD.  You can visit the website at curecmd.org.  Do to a choppy recording my part was rerecorded after the interview for the most part and is probably clearer hear than on the original video podcast.  I will work on finding a different location in my home for future broadcasts.Chapter Markers00:00 Intro02:39 The importance of Newborn screening03:42 Congenital Muscular Dystrophy is not screened for at birth04:18 How Newborn screening could better identify 05:20 On average it takes 7 years to get a diagnosis for rare diseases06:32 Kelly's diagnosis story07:11 Early symptoms08:13 Difference between Muscular Dystrophy and Multiple Sclerosis09:15 Care guidelines10:41 Pain with Muscular Dystrophy11:54 Preventing bed sores12:55 Self transfer13:39 Iniatives15:25 Campaigns16:45 Growing community18:02 Advice to newly diagnosed19:30 How life has changed for Kelly since diagnosis20:41 ConclusionSupport the show