Lily was born without major complications.  She came out healthy except for a few differences.  She was born with her left hip developed out-of-joint (referred to as a “hip click,”) and the tops of her ears folded down with extra skin. She was immediately placed in a brace that kept her hip in place for her first three months, which luckily corrected the problem.  As Lily developed, she was a little behind in some of her milestones but nothing that concerned her pediatrician.  We always said, “She will do them in her own time”.

At the age of four, I enrolled Lily in pre-school at our local private school. It was apparent after Christmas break that Lily was struggling.  Her self-esteem fell and I began to see behavior changes such as having trouble sitting still and slowly stopped progressing. I thought I was not being a good parent, that I could not get her to learn or behave.  After many teacher conferences, it was decided that Lily was not ready for Kindergarten and would repeat Pre-K.

It was not long into her second year that I knew that something was really wrong.  Her pediatrician recommended a Child Development Specialist to evaluate Lily.  Her report of Lily was one of the most difficult things I ever had to hear. Lily was developmentally delayed by more than two years, her scores were just above the mental retardation range and she showed signs of ADHD and anxiety.  I was also told that I needed to bring her to see a psychiatrist, occupational therapist and a geneticist due to congenital abnormalities and development issues.

So that is what we did.  Lily was found to have a duplication of 16p 13.3 syndrome (catchy name). I was told that there is no research on this syndrome and I needed to do the best that I could to treat the symptoms as they came.  Her “hip click” and her folded ears she had when she was born were symptoms of this syndrome. She has been diagnosed by her psychiatrist with severe ADHD and OCD; she uncontrollably picks at her skin creating huge sores (I should own stock in Band-Aids).  She is on five different medications for both.  I fought to not put her on medication, as she is so loving and happy that I didn’t want to change her.  Fortunately, they didn’t.

You can not tell that she is on medications, but you can sure tell when she isn’t.  They help her to control her OCD urges in situations of change or stress and she can sit still just long enough to do an activity.  She also has sleep apnea and sleeps every night with a bi-pap machine.  We expect to have our third sleep study soon.

She does clinical occupational therapy twice a week for work on her motor skills and was diagnosed with Sensory Perception Dysfunction; her need to be touched is very overwhelming.  I moved her to public school for Kindergarten where she is in Special Education and Lily’s teachers are wonderful.  Lily is happy and herself esteem is up, and although she is developmentally delayed by about three years and struggles with appropriate social skills, we have seen some progression and she is learning “in her own time.”

We have bad days from time to time, yet the worst part for me as the parent, is the not knowing how to help and protect her from feeling “oogally” (that’s our word that we made up to use when she feels her OCD urges and she can’t describe it).  It is difficult seeing your child struggle while you try to figure it out. I worry about every change and illness that it is going to be serious due to her syndrome.

We still don’t know what is to come, as we still don’t know anything about this syndrome.  Lily just had her eighth birthday and she loves to cook and watch movies.  She is the best hugger in the world!

3 thoughts on “Darling Lily was born with a Hip Click and Ears Folded Down Yet Received Delayed 16p 13.3 Syndrome Diagnosis”

  1. Jeanne Shimala says:

    Lily is a beautiful, sweet & delightful child. Her amazing mom Casey is an awesome parent for this special little girl. We are honored to know and love both of them. Let’s get the research going for this syndrome NOW !!!

  2. Tiffany Burnette says:

    Hi, My 5 year old son was diagnosed with a triplication in the exact same region! We got him tested pretty early when he was about 2! I’d like to tell our story so far! How do I do it?

  3. Hi Tiffany,

    We’d love to hear it! You can fill out our patient story form here: https://globalgenes.org/patient_story_submission_form/

    Best,
    Ilana

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