Rare Disease Blog

Hi. I'm Sarah and I have a rare disease called Noonan Syndrome. No, it's not contagious or anything; it's not that kind of disease. Noonan Syndrome is a genetic disorder that causes is the cause of many, many defects.

But I'm not talking about Noonan Syndrome specifically today.

When I created a blog, I knew that I had something to say, I just didn't know what. I like to cook and I know I like vintage clothes so I considered a food or fashion blog, but there are already so many of those.

And then, as I was trying to procrastinate studying for finals, it dawned on me. Rare diseases.

My disease is so rare that none of my regular doctors (cardiologist, rheumatologist, pediatrician, etc.) had ever heard of it before me. I actually tested negative for Noonans when I was born because the gene irregularity that I have was not discovered yet.

I think that that's ridiculous. As you can see from the chart below, rare diseases are not all that rare. Yes, few people have each one specifically, but of the 7,000+ rare diseases, they affect a tenth of the population.

http://www.multivu.com/players/English/7350554-phrma-report-innovation-rare-diseases/aption

If you are active in the rare disease community, you know that everyone is basically family. A few months after we found out that I have Noonan's, I went to the National Noonan Syndrome Conference and it was incredible. I met so many kids like me, who spend their lives in and out of the hospital, but are still some of the nicest, funniest people on the planet. If you have a rare disease and have not connected with people who have the same or a similar disease as you, I definitely urge you to do so.


I decided to create a blog about something more important to me than food or fashion. I want to raise awareness of rare diseases. So, once a week, I'll be posting about a specific disease. I'll talk about who it affects, why and how it affects those people, and what doctors can and are doing.


Just a disclaimer, I am not (yet) a medical professional. I will be getting most, if not all, of my information from credible online sources. However, I will link the sources at the end of the blogpost in order for you guys to do extra research on your own.

And who knows, maybe I'll even do a post about vintage dresses or my go-to brownie recipe.