what is it like being undiagnosed?

Being Undiagnosed sucks... no easy way to say it.  We can't be apart of clinical trials, treatment or cures for a disease we don't have.  We are similar, but not the same.  SMA (Spinal Muscular Atrophy) just got a treatment, it is extremely expensive, but showing wonderful results. I am ecstatic that SMA families are receiving it.  I doubt we ever will be able to use it for us.  Why? Because the test results came back negative for SMA.  Five years into this new world of special needs and we are still undiagnosed.  There are support groups for us, families just like us. Traveling the unknown future. Not knowing what to expect, not knowing how much time we have.  We find groups with similar symptoms and it helps, it really does, but it isn't the same. We are still on the edge unable to jump in.  We come up with names to try to help the doctors and nurses understand what he has.  "congenital myopathy, muscular dystrophy, something similar to SMA or SMARD, but not really cause the results came back negative..." I have said that to so many people, medical professionals, teachers, friends, family.  God Damn It! All I want is a name! A name to curse, and name to fight for a treatment and a cure!

I couldn't sleep last night so I just started writing.  It began with words and became sentences, which became a story.  Don't fault me it was 2:30 in the morning.  Hopefully it will help you understand a little what undiagnosed families are going through.

too cute.

Pen

     Here you have a pen, but you don't know that it is a pen. All you know is it is an object.  You know what it does.  It clicks and writes with different colors of ink, but you don't know what to call it.  You know deep deep down it has a name and all you want to do is to know its name.   

     Here is Sara on the otherwise of the world.  Sara has the same object. Hers clicks and writes with different colors too. But Sara knows what to call this object.  It's called a pen.  She can say to someone "hey I have this pen.  Hey can you hand me my pen..." and everyone knows what she is talking about.  

      Do you know how hard it is to say to some one; hey hand me my thing that clicks and writes with different colors and have them look at you and think you're crazy?    

Now change the pen with a disease name. SMA, SMARD, MS, Cancer...  

My son is one of the many that are undiagnosed.  I know his disease has a name, someone out there already knows the name of it.  I just need to find them so we too can call it a pen.   

     Five years and still no name.  The docs are supposedly getting approval for exome gene sequencing. Its been, I think, two/three years maybe longer.  In the beginning all the doctors wanted to see him, now they are stumped so they move on.  

Well I'm tired of not knowing the name that has hurt my son.  Not knowing what to expect.  Not knowing his future.  Just... not knowing. 

We may never get a name or it may be so rare that my son is the first.  But it doesn't mean we should stop looking. 

-mom

goofball

for serious....