Despite 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 Markers
00:00 Intro
02:39 The importance of Newborn screening
03:42 Congenital Muscular Dystrophy is not screened for at birth
04:18 How Newborn screening could better identify
05:20 On average it takes 7 years to get a diagnosis for rare diseases
06:32 Kelly's diagnosis story
07:11 Early symptoms
08:13 Difference between Muscular Dystrophy and Multiple Sclerosis
09:15 Care guidelines
10:41 Pain with Muscular Dystrophy
11:54 Preventing bed sores
12:55 Self transfer
13:39 Iniatives
15:25 Campaigns
16:45 Growing community
18:02 Advice to newly diagnosed
19:30 How life has changed for Kelly since diagnosis
20:41 Conclusion
