The story of Elena
Uniquely Elena
February 11, 2019
It has been two years since the day we received her diagnosis, but not one day goes by that I don’t think about THAT day. It’s funny how your brain can play tricks and make you think: what if I wouldn’t have went that day? Would the result have been different? Of course I know that’s not true but maybe that’s the brains way of dealing with the grief.
There are so many times that I lay Elena down for a nap and no matter how much I have to do I lay there with her, watching her and listening to her breathing. I can’t leave her, I don’t like her waking up without me. The endless kisses on her face and cuddles in the night. She can’t speak to tell me her needs so I try to be as available as I can and always in tune with her. I’m soaking it all in and living in the moment, savoring every single moment because the future is unsure.
Monday February 11 was a typical snowy morning. I had received a call from the neurology clinic at Devos Children’s Hospital that Friday before telling me that Elena’s genetic test results had come in and were interpreted by the geneticist and they would like us to come in Monday.
I was anything but calm driving down to Grand Rapids that day. I knew deep down that they had found something, why else would they have us drive 5 hours the following business day.
We got to the clinic and immediately I was in panic mode and it felt like forever before we got called back. I remember following the nurse to the room feeling like I was going down a rabbit hole. We sat in that tiny room with pale white walls waiting for her neurologist to come.
Finally he came through the door, face kind of flushed and not his normal chipper self. He sat down at his computer and started talking about her symptoms and such; then he told me that they had found something in her chromosomal micro array testing. I was dumbfounded, Elena was sleeping in my arms and I felt paralyzed looking at her. I put her in my moms arms and I literally felt the blood and hope drain from my body. I felt like I had been hit by a ton of bricks. I sat down, I stood up, I paced, I told him I needed a minute.
He only told me about two of the genes that were deleted which are the STXBP1 and ENG gene. He said he was shocked by the results but it did explain her symptoms, she was one of about 400 with this condition in the whole world. My baby? My little girl? I couldn’t comprehend it, I felt like I was watching from afar. After he met with us he said he was sending us to a genetic counselor, and had us meet with a social worker that day.
I remember getting home that night, running up the stairs shoving my face into a pillow and screaming as loud as I could, crying, begging God “Why?”.
We found out March 7, 2019 that Elena has a 1.06mb deletion on Chromosome 9 at 9q33.3-34.11. She is missing 22 OMIM genes and 9 other genes. She has Ohtahara Syndrome due to the deletion of STXBP1 and Hereditary hemorrhagic telangiectasia (HHT) due to the deletion of the ENG gene. She also has a micro deletion on Chromosome 1 and long strands of DNA on three other chromosomes with absence of heterozygosity. So to say Elena is unique is an understatement, we are in very uncharted territory.
This diagnosis has set in stone most parents greatest fears. The thought of never seeing my baby go to prom, or talking to her about her first boyfriend, seeing her walk down the aisle to be married is still just a little too much for me.
I still cry almost everyday. When you are a parent you are supposed to be able to fix things for your children, and when you can’t it leaves you with this constant unsettling feeling like you just can’t seem to be able to fully relax. Being a special needs parent you are always on your toes, you learn to sleep with one eye open, you are constantly on the go and have their doctors number on speed dial.
I know God has a plan for us, and it is amazing how strong we have become in the last years. We are not going to let this defy her, she is my warrior. She will continue to blow us all away with her determination. I love you Elena Jade, you and brother are my life’s purpose and my greatest joy.