The global Duchenne community will come together on September 7 for World Duchenne Awareness Day. This year a theme was chosen that is not only critical to changing the diagnostic odyssey for people with Duchenne…it is a theme that the PPMD team believes strongly in: the importance of early diagnosis.
In this blog series leading up to World Duchenne Awareness Day, you will hear from PPMD team members about the ways we are changing the landscape in an effort to promote early diagnosis, and how you can help us tell the world about Duchenne on September 7!
Receiving a diagnosis of Duchenne or Becker is hard. Anyone reading this most likely knows that all too well. While no one ever wants to receive that diagnosis, we realize that receiving an earlier diagnosis can help a child start with earlier therapy and better care. We know that having an earlier diagnosis also helps families mentally and emotionally by taking away some of the delay to getting a diagnosis that wastes so much time and causes so much frustration which adds to the heartache. PPMD has tried to look at the issue of how to decrease the time to diagnosis from a variety of angles. One of those ways we identified was through the lives of carriers. You heard from Pat earlier on this topic when she discussed some of our newly launched initiatives around carriers.
How does identifying someone as a carrier help with earlier diagnosis?
If a woman is diagnosed as being a carrier, this can help that family in many different ways. That knowledge can be shared with family members who may not be aware that there is a risk of Duchenne in the family. This knowledge can help with family planning, as well as making sure that woman is receiving the proper medical care for herself.
Even if there is no family history of Duchenne, a woman can have a blood test either prior to pregnancy or during pregnancy that can screen to see if she is a carrier of Duchenne. This type of testing is part of certain types of panels of tests currently being offered to women of childbearing age. If she is identified as being a carrier, she should then be counseled about what this means, not only for own health as well as her future pregnancies, but also who else in the family may want to consider carrier testing.
In order to help as much as possible, we are working to make sure there is accurate and useful information available to women who are identified as carriers. We want there to be information at their fingertips that can help that woman and her family in their time of need and make sure there is accurate and complete information for the professionals taking care of these families.
One of the ways we are accomplishing this is through the STRIVE grant we received from PTC Therapeutics. This grant allowed us to conduct some surveys of the lay and professional communities to identify the needs they have. We have concluded the surveys and are now creating content around those needs that were identified. The next step will be engaging our advisors to edit that content. In addition, we will continue to identify ways of creating awareness around carriers.
Another project we are making progress on is our systematic literature review. I know, when you read “literature review” not many people get excited but…. hear me out. In the medical community, professionals turn to the literature many times to know what the current research says about the care for a disease or condition. The problem is that sometimes there is so little information out there or the information is so hard to find that the medical professional may not find everything they need.
This is where a systematic literature review comes in handy. Just like the name implies, a systematic literature review goes through all available resources in the literature and catalogs each time the topic of interest is mentioned or studied. Then experts in that topic area read all of the studies identified. A summary paper is then published.
Why is this so critical for women who are carriers?
A review paper published in a high level professional journal will make it much easier for medical providers to quickly and easily find what the current status is on issues related to carriers. This will translate to women receiving better care and information about what are the current recommendations around the healthcare of carriers.
Obviously we hope the literature review will also inspire more research to be done in the future related to carrier issues. Having a systematic literature review will set the stage for future researchers to build on.
Our hope is to find even better ways to help everyone along this journey in the best way possible. We value your input along this journey because each of you has an incredible story to tell. Every single one of you has something to teach us. Don’t hesitate to share with us your comments, questions, and suggestions!
We want to personally invite each woman who is a carrier to register on DuchenneConnect and create an account for yourself. This will help in the overall goal of gaining more knowledge of what it means to be a carrier and how to improve the lives of those women and their children.
September 7 is World Duchenne Awareness Day!