Rare Disease Day

By: Owen

Rare Disease Day

February 28th is rare disease day.  My Facebook news feed has been filled with images that say I heart someone who is rare in honor of loved ones.  Many of my Facebook friends are chromosome 18 buddies.  Chromosome 18 issues are rare.  For example, Down Syndrome, which seemed so unlikely to happen when I was pregnant happens in 1 out of every 691 births in the United States.  Down Syndrome is the most common genetic condition.  Down Syndrome is not rare.  Owen’s diagnosis is about 1 in 40,000!


When I learned how rare Owen was it felt very lonely.  I thought I would never meet another person like him.  Of course that isn’t true and now thanks to the Chromosome 18 Registry and Research Society we have friends with the same thing as our little guy!  Also, while each disease that is considered a rare disease is uncommon in the general population, there are so many different rare diseases that I imagine every time I leave my home I might come in contact with someone who has a rare diagnosis, I just don’t know it.  I feel much less lonely now.

Chances are, you know someone who is rare.

The first time I realized there was a rare disease day I believe it was leap year.  I loved the idea that it fell on the rarest calendar day of all, one that only comes every 4 years.  Then I learned it happens on the last day of February every year.  So if it is not leap year it just falls on ordinary old February 28th.  I must admit, I felt a little disappointed.  I realize that having the day every year raises more awareness but I still felt like it lost a little bit of it’s power.

Now it is time for a confession.  I have never made and posted one of the I heart someone rare photos…  It isn’t that I am ashamed of Owen’s rare condition.  I am not.  I talk a lot about being the parent of a child with special needs.  I go out of my way to mention his diagnosis as 18q- so maybe people I know will take the time to look it up and learn about his condition and others like him.  I even sometimes throw out the statistic of Owen being 1 in 40,000 randomly to doctors, friends, and even strangers.  I can with 100% honesty say I am not ashamed of Owen or his diagnosis.  Why then have I never made one of the photos to share?  I love to show off pictures of Owen.  I am sure from reading the blog you know that!

To put it simply, I don’t like to consider Owen’s diagnosis a disease.  The world considers it a disease, it is on lists of rare diseases.  We see many, many doctors to make sure Owen stays healthy and to keep on top of any issues that might crop up.  He has allergies, reflux, sensory processing issues, speech delays, and all sorts of things related to that little piece of missing genetic material.  So I am not entirely sure why I have such a hard time thinking of it as a disease.

In my mind a disease is something you fight, you try to beat it down and get rid of it.  Cancer is a disease.  You fight cancer, you try to kill it, you want it to go away.  Owen’s “faulty” chromosomes are just part of who he is, like his hair color or his big beautiful smile.  No matter how hard we work, there is no cure.  We can’t replace genetic material that isn’t there.  I’m not sure I would if I could.  Owen is just Owen.  He is sweet, loving, wonderful, and yes, difficult but not someone with a disease.  He most certainly is rare.

So today, I will make the I heart someone rare photo and share it with you.  I still haven’t decided if I’ll share it on Facebook.  And if you know someone rare…  give them a great big hug today.

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