Sunday, February 28, 2016

To Mourning a Diagnosis, To Parents, on National Rare Disease Day

Today marks the end of the first six months since Tiny's seizures began.  When Tiny's diagnosis was handed down, I'd never even heard of Tuberous Sclerosis Complex (TSC),  which was weird -- I'm a nursing student with a penchant to find and research rare diseases in an effort to educate myself, impress professors, and help my work stand out from the others they teach. 

I remember getting the EEG result before diagnosis: abnormal.  Okay, I can handle epilepsy, I told myself.  Thousands upon thousands have seizures and lead perfectly normal lives.

I remember getting the results of the MRI before diagnosis: abnormal.  Okay, so there's something in there, I told myself.  It'll probably have to be removed.  Given his symptoms, it's probably not cancer.  Okay, I can deal with surgery.  It'll be scary, but I can do it.  Tiny is strong and robust; he'll recover.

And then we sat down with the neurologist.  It's TSC, a rare genetic disorder...  I blinked, glanced at my husband, frowned.  His face was blank, too. ...characterized by masses in the brain... His brain was compromised.  I knew that.  I could handle that.  ...heart, lungs, liver, kidneys, and eyes...  uh, say what?  You mean that this isn't just his brain.  ...It can cause seizures, developmental delays, mental retardation, organ complication, and sometimes in severe cases...  tears sprung to my eyes.  Please don't say it.  Don't say the D word.  My baby's only two.  Please, please, please.


The Neuro proceeded to point out the problems on the MRI as numbness clawed from the top of my head, from the tips of my fingers and toes, and seep into my lungs.  Breathing?  I'm not sure I was getting proper oxygen into my lungs.

I went home and cried for the rest of the day.  I drove in circles around the farmlands while the boys napped in the back seat, and finally pulled over, put my head against the wheel and sobbed.  ...We won't know how Tiny is affected, as the range of cases is so wide...

I gave myself one more day to cry, stayed in my PJs, hugged my babies a lot, ordered take-out for dinner, hugged my husband a lot, and cried. ...If the masses grow, he may require surgery or medication to shrink them, but the damage may be irreversible...

In the months since, we have had a barrage of tests, most of which I had to help hold down or snuggle my son through.  I didn't cry then; crying in front of Tiny won't help, especially when he was already stressed about the tests.  ...He may not be able to do the things other kids can.  His seizures may not be able to be suppressedFor now, we watch and wait

I've had my days where I could barely hold it together.  Days where I'm angry at everyone and everything.  Days I'm so fearful and grateful and mindful that I'm overwhelmed by emotion.  Days where I just don't care anymore.  I swing between the stages of grief, and I know them all intimately...all, except acceptance.

I don't accept this diagnosis as the end of my Tiny.  I don't accept the well-meant, but misplaced platitudes from people who try to make me feel better about it.  I don't accept that my child will miss opportunities just because he won the genetic lottery.  I don't accept TSC, and I don't accept that I'll ever be okay with the fact that my son is fighting it to live a normal life.

I do, however, understand that this is the new normal, and I'll strive to make it as close to everyone else's normal as I can.  For Tiny. For me.  For our family, which is also affected by Tiny's tubers.  ...You should find a support group, so you're not alone, so Tiny has kids like himself... Doctors mean well, but there is nothing more torturous than knowing that you can't fix your child's problems, that he'll have this disease forever.

To all those dealing with rare disorders, I know today isn't a day for celebration for you, but it is one of recognition:  of your fight; of your passion; of your pain; of your babies; and your love.  I wish you the happiest of National Rare Disease Days and the best of wishes and outcomes for those who are hurting - parent and child alike.

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