Friday, February 26, 2016

Plenty of Rare to Go Around

Everybody's got something.

Elizabeth has allergies, asthma, lactose intolerance, eye problems, and weird cycles.  Chris has allergies, eyesight problems (pre-LASIK), and bad knees and ankles.   We both have crummy tummies and dry skin.  We were lucky kids that our inherent medical issues weren't serious, but we had something.

So far, Everett is a healthy infant developing as expected.  We're sure something will pop up in infancy, toddlerhood, or childhood that needs some medical intervention.  Probably glasses and probably allergy meds, if he takes after Mommy and Daddy.  It's tough not to go down every rare disease rabbit hole.  He might have a rare, chronic, serious issue come up.  He probably won't.  That's hard to get our heads around.  When you've been the 1 in a _____, it's hard to find comfort in population statistics.

Growing up, we all knew kids who had serious problems.  Life altering or life threatening problems.

Once you've had a kid with a serious diagnosis - whether they pass away or not - you start becoming much more aware of all the "rare" things that can happen.  You hear stories from people in support groups, you read articles online, you pay more attention to storylines on TV.

Rare is everywhere, once your eyes are open.

There are two insidious ways a rare diagnosis specifically isolates families.  Firstly, since it's rare, we have to take on a role of educator for our friends and families.  This can be exhausting, especially in the beginning.  People don't automatically know what we're going through, and we often can't easily find people who do get it - people in the same boat as us.  It's a small boat.

Second is there typically isn't a lot of medical experience and literature to lead the way.  More common ailments have gotten more attention over the years - and rightly so.  But it still sucks when you realize there aren't answers for you, for your kid.  Now in addition to educators we have to be advocates.  With regards to Oberon, we knew some of his problems were categorized as Beckwith-Wiedemann Syndrome (BWS), but not all.  And we have no idea what caused any of it.  It wasn't inherited, and the doctors weren't able to identify anything else that would have caused BWS and cerebral atrophy in the third trimester.  Maybe someday, families like ours can get answers - or better yet, families can take actions or precautions to avoid developing these issues.  None of that happens without more research.

That's a lot to pile on in addition to being parents and caregivers.

The internet has helped a lot.  The other thing that has helped is individual rare disease communities coming together to be a larger community.  And on the rarest day of the year, February 29, we are raising awareness with Rare Disease Day.  This is a global effort, but you can find info on the U.S. Rare Disease Day here.  In fact, one of Obie's favorite charities is the U.S. sponsor - NORD!  There are live events (especially at State Houses), and you can join in the social media conversation by using #RareDiseaseDay.

We're glad that something like Rare Disease Day exists, but at the same time it really sucks.  Despite how advanced medicine is, there are still countless horrible diseases.  There are still millions of people dealing with the fallout of these diseases.

Our family is obviously dealing with the grief of losing Oberon, but he isn't the only rare kid in our family.  Our niece, Grace, has PMM2-CDG - an extremely rare glycosylation disorder.  It took eight months to get a diagnosis for Gracie when she was an infant, and for others it takes even longer.  She's a happy kid working on motor skills with horseback riding and other cool physical therapy workouts.  Her parents are dedicated to getting the best care for Grace and have traveled to France and San Diego to attend conferences on PMM2-CDG.

We need awareness and empathy, and we also need research.  That's why we will continue supporting NORD and FNIH.  In memory of Oberon, and in honor of the beloved kids in our life who are battling rare diseases.  They are awesome, and they deserve the best this world has to offer.  To celebrate Rare Disease Day, we will be making a donation in memory of Oberon, in honor of our niece Grace, and in honor of a very close friend who was recently diagnosed with yet another extremely rare disease.  If you love a kid (or an adult) with a rare disease - consider donating to help advocacy or research supporting rare diseases on #RareDiseaseDay.  As NORD says, alone we are rare, together we are strong.

Oberon on December 9, 2014

Grace on her first day of preschool in Fall 2015

1 comment:

  1. Thank you for your thoughtful post. My son, born in 2014, also has a rare condition called congenital hyperinsulinism. It is a strange world to live in--to have to remind everyone, including family, of the specifics of a rare illness while also not being able to ever fully relax or take comfort in statistical "normalcy." It can be alienating.

    But you're right that communities brought together by groups like NORD are important and can bring so much more than medical research for individuals and their families.

    Thanks for writing this post and congratulations on Everett.