Genetic Counseling: Down Syndrome Awareness

I am taking part of an online course through University of South Carolina for future genetic counselors. Part of being a genetic counselor is being an advocate, creating awareness, and educating others about genetic conditions and that’s what I intend to do, starting now. One of the website reviews for the week about prenatal genetics was a website dedicated to supporting families with a Down Syndrome diagnosis. I have been fortunate in my life to have not been sheltered from conditions like this and lately I have realized I’m a minority. As I work through this course, I’ll share awareness, keeping with my theme of “learn, experience and share.” In honor of National Down Syndrome month (October) I’m sharing my review of the website downsyndromepregnancy.org. If you chose not to read the whole post, the one take-away I want to leave you with to stop using the word “retard(ed)” to describe anyone or anything. Thank you!

image courtesy of sbdsa.org

I was excited to see the abundance of helpful, amazing information on this website. I spent hours clicking link after link (and will probably spend more time) and I’m having a difficult time narrowing down my thoughts. The internet has changed the world in so many ways, in this case, allowing for better understanding of these conditions, and more tolerance through the use of social media (i.e. Madeline Stuart the model, Madison Tevlin the singer). The internet has not only provided easier access to information regarding the diagnosis but creates a wider range for support. Blogs and forums allow these mothers, fathers, grandparents and friends to reach out to others around the world to ask questions, and support each other. Socially the world has progressed to understand that these conditions are not caused by a “curse” or “demon,” thereby creating greater resources for early interventions, obtaining an education and wider availability of jobs. Disability or not, they deserve the same quality of life as any other child.

As I read through many of the mother’s thoughts and stories, it helped me be aware of the range of emotions, thoughts and reactions that can occur. Part of my reason for becoming a genetic counselor is my desire to assist families in situations like this because I have seen first hand the beautiful lives they can lead; and they amazing, loving people they are. But if parents have never had first hand experience or exposure, it can be troubling, overwhelming and heart-breaking. I feel that is where the role of genetic counselor is so helpful. One mother mentioned that she felt many of the doctors, nurses, or technicians did not seem sensitive to the information they were giving her and felt that they pushed the idea of termination above other options. Working with a genetic counselor will give them all available options and allow the family to make the decision best for them. The burden on a genetic counselor can be heavy, not only in explaining medical conditions and terms, but they are also offering assistance and hope to the family as they navigate the medical, social and emotional aspects of a diagnosis.

My favorite section was “50 Things to do Instead of Worry.” There were multiple links to YouTube video’s that are entertaining for children and informative for parents to learn simple sign language. Since delays in speech are common, using sign language to aid in communication can reduce frustration for both parent and child. It was in this section I found a lot of the blogs with mother’s birth stories I mentioned above. There is a list of medical terms and definitions to help parents learn the terms that will soon become part of their vocabulary. Additionally, this section includes ideas that any “regular” pregnant mother would do: pick out a name, shop for baby items, and plan for meals after the birth.

The “Dealing with Comments” section was emotional for me. People trying to be well-meaning can say hurtful things. I like the sample letter provided to help parent’s have a kind, straightforward way to deal with comments and terms that are antiquated, like the “r-word.” In my own circle of influence, I have made sure to gently correct others. Again, hearing stories and suggestions from parents is helping me think about the words and phrases I will use in the future. The suggestion to focus more on listening, rather than talking, seems to the most supportive thing.

The website created a feeling of hope, in addition to validating concerns and worries by addressing them directing towards other resources.

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