Monday, October 19, 2015


When Sonya started to have seizures, the first thing our neurologist did was run test after test to "rule out the cause".  We were told the majority of the time the cause of epilepsy is unknown, however a trauma, infection, and genetic mutations would be responsible for the known portion.  

When our neurologist decided to check Sonya's genes against the infantile epilepsy genetic panel, I had no doubt that it too would end up coming back negative.  Neither Sam nor I had any reason to believe the results would be positive; no one in our families had a genetic predisposition for seizures.  

If her testing came back negative, there was no known cause for her seizures and we could anticipate she would "grow out" of the seizures.  We could breathe a sigh of relief that her cognitive development would be unhindered.  We could just assume, she was having seizures and they would be treatable with the typical medications.  Sonya had three Lumbar Punctures in 4 weeks of life, she had multiple blood draws and metabolic testing, all came back negative, and all gave us instant relief.  Then that phone call came, the one that neither of us really understood the implications of until 24 hours later.      

When your child is diagnosed with a genetic mutation as the source of her problems the first thing I think most "typical" parents do, is feel a sense of guilt.  This child was not created by herself, we as parents obviously played an extremely significant role, so it seems only fitting we would take on this feeling.  You submit your genetic samples, and deep down you know the results will state that you are not responsible, that it was just a statistical anomaly, just a random oops in the baby making process.  You meet with a specialist who states that odds are due to the type of mutation your child has, it is most likely random.  However, in even more unlikely cases as the eggs within your uterus were created, a mutation on the CDKL5 gene could have occurred.  This same specialist tells you the odds are so low, you would be published in a book.  At the time it gives you a cushion of comfort.

Then you leave the "safety" of a geneticist and you enter into the real world.  The world where you tell others your child has a genetic mutation and you are quick to follow those words with "it was a random mutation", "neither my husband nor I were responsible", "we had testing done, and no it did not come from either of us".  You say these words because you feel you have to defend yourself, your family, your potential future choice to possibly decide to have another child.  You say these words mainly to protect yourself.

The truth is that day will come when you are in your car and your husband will send you a text saying to open your email.  In the email, you will see the words you have known deep down for months.  The words that read, neither you nor your husband is responsible for your daughter's genetic mutation.  Tears will fill your eyes, and you will begin to cry.  Why you might find yourself wondering would you cry when you just learned this was NOT your fault?  

You will cry because regardless of whether it was your fault or not, there is not a thing you can do about it.  

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