Test results
Well, the results are in.
The good news? The genetic mutation came from me.
The bad news? The genetic mutation came from me.
Good, because I have lived for a third of a century without any notable symptoms, and Emma’s duplication is an exact replica of mine.
Bad, because this is another hurdle. We have no idea what this means yet.
We have lots more appointments scheduled now. I am meeting with a neurologist on Thursday, and we are meeting with Emma’s geneticist on Monday to figure out the next steps.
The instant that I heard the news, I broke down, and allowed myself to experience self-pity for ten minutes. But then I remembered my little girl who needs a strong parental base more than anything in the world. It’s funny how everything seems so insignificant when you stop making it about yourself, and make it about those you love.
In the immediacy of not knowing anything about what this really means for Emma and I, thoughts of my own mortality came to the forefront of my mind. Does this mean I too could be susceptible to strokes/aneurysms/hemorrhages? Should I change the way I live my life? How can I use myself to further our understanding of Emma’s condition?
Then my daughter turned her eyes to mine, confused by the look on my face. She took a moment, then ran at me with a smile. How very lucky I am.
Thank goodness for humbling moments, especially those that come in the form of tiny-humans with a thousand-watt smile and a heart of joy.
Comments (8)
Oh Katie, What a journey you are on. Your blog is filled with wisdom and insight. Blessings to your and your family.
Katy we are all thinking of you and your family , it has been a real roller coaster ride for you all on so many different levels! Wishing you strength and courage for the journey you and Adam are on and hope for clear answers as to what this latest piece of news means for you. Lots of love xo
Thank you for sharing. Lots of love and hugs to you all. I am completely humbled when I read your posts. Sending love and positivity your way xxx
Katy, you are such a strong, intelligent woman that I believe that you and Emma will both be the exceptions in all of this. I don't know of another person who is more qualified to handle a situation like you and Adam are in. All my love, hugs, and prayers are for your family. Hug those kiddies for me. Love, Aunt Helen
you, my friend, are an inspiration. i wish i had half the strength that you have. love you!!!!
You are amazing....you inspire me to be a better mother and person....
thinking of you all at this time you will handle this with lots of love that we know you have for your family my prayers are with you all lots of hugs which we could be with you
Woah. That's very heavy. I am thinking of you every day. Please call if you need someone to sympathize or just to blow off some steam. Love you so much! And I am still working on coming to visit. It will happen soon.