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3 Things to Do After Receiving a Rare Diagnosis

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I had a perfect pregnancy with my daughter. Every prenatal appointment brought us good news and eventually our little bundle of joy. But on our first day home from the hospital, we received a call that there was an abnormality in the newborn prescreening and we should bring our daughter in to see a genetic specialist. The next day we received the diagnosis of propionic acidemia.

Many emotions come about after receiving a diagnosis like ours. There are a lot of questions, confusion and uncertainty. I learned a lot from the experience and hope my tips below can help others in similar situations.

1. Put your laptop away. The internet can be a wonderful place for support groups, communicating with family and friends, and researching medical information. It can also be a scary and dangerous place after receiving a diagnosis. When I was told my daughter had propionic acidemia, the specialist specifically told me, “Don’t Google it!” But I immediately got on my phone and searched for more information.

I should have listened to the specialist. I read things I didn’t need to know at the time. There will be plenty of time down the road to scour the internet for information. When you first receive a diagnosis, leave it up to the professionals to provide you with the information you need.

2. Talk about it. It’s helpful and healthy to find a support group as quickly as possible. I made the mistake of keeping things generally quiet. I talked about the diagnosis with my immediate friends and family, but did not openly share the struggle we were going through. It was not until my daughter was almost 5 years old that some of my closest coworkers even knew she had a metabolic condition. Once I shared this information with others, I learned that most people want to help and provide support. They want to be educated and involved. So talk about it and find the support you need.

3. Write it down. Keeping a journal can be a positive outlet in so many ways. After a diagnosis, grab a notebook and start writing. Journaling can help you process your feelings and clarify your thoughts. This type of writing does not need to be neat and pretty. No one will care if every other word is spelled incorrectly. Getting all your feelings out on paper can help reduce stress.

Journaling can also provide your doctor with needed information. Keeping a log can help recall information for your physician at a later time. Finally, what you write down may be helpful to others in the future. At some point you may want to share your journal with someone else who has received the same diagnosis.

Originally published: August 22, 2016
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