As I go to unpack, another file box, from our recent move.  There it is.  I pull out the purple (“puhpo”, as Sophia would say) folder.

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As I open the stuffed folder that holds all the information given to us about Sophia’s diagnosis, last year, I’m silent and still.  That hard-to-swallow feeling is back in my throat.  I know what I’ll see when I flip the cover.  The words, “ABNORMAL Micro-array Result, Female”, will be staring back at me.

My head starts spinning and my pulse quickens.  My nerves are raw.  I’m more in control now than when I was sitting at my kitchen counter a year ago and heard those words (out loud) for the first time.  There they are–in permanent print–staring me in the face, just as cold today as they were twelve months ago in audible form.   My granite counter top was warm compared to the voice of the genetic counselor who called to inform us of our daughter’s difficult medical facts and test results.

“She has a terminal deletion on her 4…”

okay, you lost me, I’m officially numb.

Some time must have past because the next words I remember hearing are, “Hello, Janet, are you sitting down?”  Thank goodness I was and just to make sure I look down to check and yep…the first thing I see are my knees (as I’m almost in a fetal position on the chair).

The memories of that day make me cry.  Every time.  Why am I opening this tattered and tear-stained folder, again?  I want to slam it shut and file it under: NEVER OPEN!  Instead, what I find is courage.  Courage to keep reading in which I discover a found determination.  Determination to mark this Anniversary with the pursuit of learning something new.  Determination to glean all I can from this past year now knowing Sophia’s diagnosis and her need for advocacy.

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Sophia turns 8, this December!  The realization suddenly takes my breath away.  With each passing birthday I have the opportunity to embrace and accept “she is who she is.”  I believe God hasn’t overlooked anything in her life.  I can honestly admit that I’m most grateful to God for revealing her diagnosis in His time.  The past six and a half years (desperately wanting to know Sophia’s diagnosis) was time of bitter sweetness and years of God finding me.  For that reason alone I wouldn’t trade those years of NOT knowing for knowing that our little girl was living with Wolf-Hirschhorn Syndrome.

“Wolf-what?”

I repeat a little slower and with enunciation, “Wolf-Hirschhorn Syndrome.”  This is the way the conversation goes when trying to explain to someone what Sophia has—trying to communicate why she is uninhibited socially, yet with few words at her disposal to communicate her delight at meeting new friends.  I say the name again, “Wolf-Hirschhorn Syndrome” for the second or, (GADS)…the third time.  Then, I start spelling it: W-o-l-f (hyphen) H-i-r-s.., and so on.  One would think Wolf-Hirschhorn Syndrome (WHS) would resonate with people, right up there with…Cancer?  After all,  the syndrome is associated with the words, terminal, it’s complicated and when you say it, “Wolf-Hirschhorn Syndrome”, it is often followed by silence.

One reason, the name doesn’t resonate, with the vast majority of people, is because of the syndrome’s rarity.  WHS affects only a handful when compared to cancer; with odds of 1 out of 50,000, give or take.  Another reason, it isn’t curable. So, #1 on my bucket list, raise awareness for WHS.  Yep, right next to going to New Zealand (dream trip with hubby) and meeting Ellen, someday!  (Ellen is all about sharing the same kindness that pours out of our kids.  I would love for her to meet THIS blessing of kindness.  Plus, she made me laugh during the hardest, homebound years of parenting.  I’m grateful for her gift.)

Earlier this month, near Sophia’s Anniversary date, I found myself at her annual I.E.P. for school where we discuss her ongoing style of learning.  Towards the end of the meeting I realized not one person on her team had recognized or talked about her recent diagnosis.  It hadn’t been brought up at all during this meeting.  So I ask what seems to me to be a logical question, “Has Sophia’s diagnosis been added to her I.E.P?”  Maybe there’d been an oversight.

“Yes, it’s there…..somewhere.”  The team is rifling through their files to find the name of her syndrome. “What is it, again?”  Not one (there are 7, on the team) could tell me from memory or from prior knowledge; it surely wasn’t for lack of care.  On the one hand, this isn’t so terrible because her diagnosis doesn’t define who Sophia is.  But on the other hand we must attend to the fact that familiarity with the name and what it involves does play a major role in Sophia’s life.

I find myself hard pressed to pave the way for others.  My goal is to offer someone else…HOPE!  This is my opportunity to bring awareness for my daughter living with WHS and all others living with WHS.  I begin to say it…(again), then spell it…(again), and I’m grateful to be able to then share this website—www.wolfhirschhorn.org—the same website my genetic counselor shared with me.  The same website where I found comfort and a much needed sense of belonging.  Now a place I’ve become a team member to raise awareness advocating for my daughter and others.

Thank you…Kevin O (*smile*) and community; together we are empowered and encouraged given the charge to share our story and children.

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Along with the rarity of this syndrome is the scarcity of information in the reality of what it is to live with Wolf-Hirschhorn Syndrome.  Yes, it’s a struggle and sometimes dire.  Mostly, I’ve come to know living with WHS can bring support and support brings understanding and understanding brings knowledge and knowledge brings power and power helps our kids. Not only that but much, much bigger than the support, (that our children so desperately need) are the gifts our children bring to the world:

~ pure love

~ precious innocence

~ unending amounts of generosity

~ sheer happiness

~ complete joy

~ astonishing beauty

~ unabashed friendliness

~ captivating goodness

The list is endless.

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As much as we need to share with the world about Wolf-Hirschhorn Syndrome, the world needs our children!  Each child captivates anyone who is willing to be inspired by their sheer being.  So, this year and the following years to come, as I hold this ratty, purple folder to my chest, I will tuck it away because I realize that we are no longer bound by this folder’s contents.  Our lives are now tied by a ribbon…ORANGE in color.  Worn in support of those living Wolf-Hirschhorn Syndrome.

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I wear orange for my daughter, “Phia”.

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7 Responses to Purple to Orange

  1. sharisse says:

    these kids share a special place in the world and Janet, you will spread the awareness with your amazing words!

  2. Stacia says:

    I read your article numerous times. God is good.

  3. Shirley Bidnick says:

    Welcome to the WHS advocacy team. My daughter, Rochelle, was diagnosed at age ten. A diagnosis that comes later in life has a different impact than a diagnosis made in the prenatal period or early infancy. The blow is softened, somewhat, by the time we have had to adjust to our child’s differences. A diagnosis of WHS still delivers a whallop though. When Rochelle was diagnosed, I immediately went to a medical library (pre internet days!) and had all my worse fears confirmed. I eventually learned to use whatever knowledge was available without scaring myself.

    I agree with your statement that the world needs our children, but most people are not open to that concept. The fear and stigma of having a child with a developmental disability is too great. Overcoming it is a huge challenge. We love our children and they enrich our lives. Hopefully, when others observe us enjoying and valuing our beautiful children, they will be more open to the possibilities of life enhanced, not diminished, by disability. That’s what you demonstrate in your lovely family photos.

  4. Shannon Childs says:

    Janet! I was just doing my homework as Sophia’s SLP…! She is an amazing little girl. It looks like your post was written 4 years ago, and Sophia has blossomed. I would love to learn more about WHS. Please know your daughter is a joy to work with, and I feel lucky to enjoy her amazing self.

  5. Leann says:

    I have a unique situation. I have 3 with this syndrome and they all 3 are awesome……

  6. Alisha Owensby says:

    Hello my name is Alisha and my 4 month old son was recently diagnosed with WHS.This is a something very unfamiliar to us.I am trying to read and get all the insight that I can.God bless our families.And our wonderful children.Is there a support group or can someone connect with other families who has children with WHS?

  7. Janet says:

    Hello, Alisha,

    Yes, there are support groups on social media , Facebook. Just find wolf-hirschhorn closed group and request approval. Being connected helps in living with WHS. Congrats on your baby boy and hope to see you in the support group, soon. Blessings

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