Special Needs

When you really are alone.

“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 F’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 Shank 2 gene that had never been seen in anyone in the world, ever.

I immediately had mixed emotions.  So it wasn’t ASD, Rett Syndrome, Angelman’s 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 (who was one of many we had seen in the 3-hour appointment, everyone wanted to see our girl who was 1 in 6 billion) 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 F 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 that she is completely nonverbal, has receptive language disturbances, low tone, loose joints, sensory processing disorder, ASD, and visual processing issues.  That’s enough for me.  I want her to stay right where she is, and for my control freak brain the fear of the unknown can be unbearable.

Will she develop heart problems or scoliosis? Will she have regression?  What about seizures? Will she ever 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 head first into every angle hoping that 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.

2 thoughts on “When you really are alone.

  1. My son Daniel is 6 and he is also one of a kind. He has an unbalanced chromosome translocation. He has additional material on chromosome 12 and he’s missing part of eight. He is the only one in the world diagnosed with this on his particular chromosome breaks. I completely understand where you’re coming from. He has low tone, cognitive delays, myoclonic seizures and loose joints. He is also the happiest most handsome little boy you’ve ever seen.


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