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What It's Like to Hear a Geneticist Say, 'It's Never Been Seen Before'

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“It’s never been seen before,” the geneticist told my husband and I with a faint grin. I could tell that for someone in his profession, he was trying to contain his excitement.

We had been on the journey for my daughter’s diagnosis for 18 months now. She was about to turn 3, and we finally had an answer. She had a genetic mutation on the SHANK2 gene that had never been seen in anyone in the world, ever.

I immediately had mixed emotions. So it wasn’t Rett syndrome, Angelman syndrome, or something else. It was this. “Which is what now?” I thought to myself, waiting for an explanation. However, all I got was, “We don’t know” and “Time will tell.”

Just as we were about to leave, the senior doctor (one of many we had seen in the three-hour appointment) told us, “Well, you thought today would mark the end of a journey, but really it’s just begun.” The more I think about that statement the more I realize how true it is.

With every other possible diagnosis we had come across, there were others. There were support groups, message boards, books, blog posts, articles, Facebook groups, and studies. But with this, we were alone. There was no “What to Expect” book. There was no other parent to contact. There is no doctor who specializes in it. It’s just us. We are alone. Completely alone.

The genetics doctors have decided to publish an article about my daughter in medical journals, giving me some hope that we will find someone else in the future. For now, we watch and wait. We wait to see if she will thrive or develop more problems.

Right now we know she is completely nonverbal, has receptive language disturbances, low tone, loose joints, sensory processing disorder, autism spectrum disorder, and visual processing issues. I want her to stay right where she is, and for my brain, the fear of the unknown can be unbearable.

Will she develop heart problems or scoliosis? Will she have regression? What about seizures? Does she understand what I’m saying to her? Will she ever speak my name? I long to have her run up to me with a hug and exclamation of “Mama!” Time will tell if I will ever get my wish. While I wait, I try. I try everything. Maybe pictures will be her way of speaking or perhaps sign language. We jump headfirst into every angle hoping it could lead to a breakthrough.

She continues to surprise me with her zest for life and unique understanding of the world around her. She loves with her whole heart, and that love exudes from her smile. If you meet her, you are forever changed for the better, and I’m so lucky to have been given the gift of being her mama.

While I am completely alone in the world, it doesn’t matter to me. I have her and she is all this mama needs.

Follow this journey on Difficult Mommy.

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Originally published: April 24, 2017
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