Sunday, April 19, 2015


"For what reason or purpose?"

How many times have you asked the question "why"?  How many times has your toddler asked the question "why"?  In this house the answer is 1000 (unless we are talking about a guy, because they never seem to ask that question ;-)).  I happen to be a person of "why".

When we first learned of Sonya's diagnosis I wanted to have the answer to why.  Why was she having seuzires?  There has to be a reason, healthy babies do not have seizures.  I thought that if we knew the why we could be more prepared, or we would be able to find a way to end her seizures.  I thought I would be more at peace.

So we did every test imaginable, we allowed Sonya to have blood taken, to have her mouth swabbed, to send her down to her THIRD spinal tap in her short 5 weeks of life.  As each test came back negative Sam had his hope that this would just go away.  We had heard 1000000 times from family and friends that this friend had a child who had outgrown his/her seizures, this friends child was 4 and seizure free, this person was driving and had seizures, this person had seizures and now has 3 children....and the list went on.  So why wouldn't that be Sonya's fate?  Why wouldn't she outgrow the seizures at 16 months.  With each negative test result, a slight glimmer of hope ensued.  I actually found myself giving that hope some weight for 5 minutes out of a day, deep down not convinced, but willing to jump on board the cloud Sam was floating on.  And then just as I jumped onto the cloud, we got an answer to our why.

I have to say, it is important to be careful what you wish for.  My phone rang on Wednesday with a 623 number, I answered.  It isn't out of the ordinary for our awesome neurologist to return an email with a phone call, or to call herself to speak about Sonya's medication.  Why would this phone call be any different then our others.  Simple chit chat about a video I had sent that morning, an additional medication being added (even though we had just been to her office 28 hours ago), and then the words, "The hospital completed Sonya's genetic tests.  While they didn't send out the panel that did the 400 genes that I wanted, they did complete the one that tested 71 genes, and I am sorry I did not have the information yesterday when you were in the of the genes did come back positive, but I think it is best for you and Sam to come in together so we can go over the results in person.  I do not want to tell you anything now, because you will go online and read things, and just because it is written does not mean it will be the outcome for Sonya.  I know you like to read articles, so I have information for you.  I know you both will have a lot of questions, so it is best to not do this over the phone."

A million thoughts are running through my head, and I know this is not good.  It is never good to be told you and your spouse should come together.  Then she wanted me to wait a week.  At this anyone who knows me knows I said..."Really, you want me to wait a week?"...let's shorten that part of the phone call to tell you we would be getting a call from her secretary letting us know what time we could meet her at her office in a different part of town on Thursday.

While Sam spent that night googling the epilepsy genetic panel, I was in a silent state of peace...we would be getting our answers.  My thoughts of her being delayed would be confirmed, my thoughts that she probably couldn't see would be confirmed....all of my questions would have an answer.  We would have our why.  After all, isn't this what I wanted?

2:30pm on Thursday, April 16.  We waited only 5 minutes for her to come in the room.  To tell us again they only tested 71 genes, to tell us Sonya's positive result was on CDKL5.  To tell us that with that positive result on this gene and her clinical presenation of seizures, she would most likely have: epileptic encephalopathy early infantile 2, x-linked infantile spasm syndrome, and or Atypical Retts Syndrome.

We asked our questions, I left there with some odd reassurance that just because she had a mutation with her CDKL5 gene did not mean she would have any of the ugly possible disorders assigned to the gene.

Then I went online and typed in those 5 seemingly innocent letters, that in combination are no better off than a death sentence to a parent of a 2 month old baby.  And it was at that moment that I realized, sometimes it is better to be blissfully ignorant...sometimes it is better to not have all the answers, to not know the why.

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