What is Wonderpuzzle?

Wonderpuzzle is the brainstorm of two parents – Phoebe (that’s me) and Josh (that’s my husband.)  We created the website after years of stomping about the medical community in search of a diagnosis for our youngest child, Maura.  In our searches, I have scoured the internet and thought “Hey, wouldn’t it be handy if this was all on one site?”  So in a way, Wonderpuzzle has become like a big “bookmarks” site for me that I’m sharing with other parents in our boat.

What’s with the puzzle question mark?

That’s the symbol I came up with.  I felt like every other syndrome and special need had an awareness symbol, why not those of us w/o a diagnosis?  I actually asked parents of children with autism and adults with autism if it’d be tacky to use the puzzle piece design.  Their response was that it better suited my cause than theirs, because we are truly looking for that missing piece that will finally solve the puzzle of what our diagnosis is.  The yellow and orange come from two of Maura’s favorite colors.  The silver was chosen as it’s the awareness ribbon color for children with disabilities. 

Who is Maura?

Maura is our youngest child, the one I joke “dared to be different” from her three older siblings (Collin, Sean and Miriam).  She was born in 2003, and for all accounts and purposes, was normal.  When she was six months old, I started to worry that she wasn’t quite sitting up.  At 9 months, she sat up, crawled, started trying to pull up, so I assumed that she was finally catching up.  Mind you, her siblings were all walking by 9 1/2 months at the latest, so my concept of “normal” was vague.  At 13 months, the nurse noticed she had low muscle tone. By 15 months, she wasn’t walking and her other delays were noticed, as well as possibly genetic makers (simian crease, epicanthal folds.) We went to the doctor with our normal child, and left with a child with issues and paperwork for chromosome testing.  And so our journey officially began.

As of today, Maura has low muscle tone, strabismus, pseudo-strabismus, flexible flat feet, developmental delays, apraxia, and a seizure disorder.  Maura is a very bright, happy, girly girl who loves to dance and play outside.

What have you tested for?

A lot!  Specifically, we’ve run blood tests for lead, anemia, Celiac’s and thyroid function. We’ve done two different general chromosome tests (one kareotype, one micro array), plus specific genetic tests for Down’s, Rett’s (both regular and atypical), and Fragile X.  Between all these, we’ve also ruled out Angelman’s.  We did blood and urine metobolic tests.  Plus an MRI and an EEG.  We’ve also been to a pediatric psychologist.

Out of all of this, the only test she didn’t have normal results with was the EEG we had done a week after her first seizure.  She’s now on seizure medications.

What about autism?  Have you ruled that out?

Yes, we have ruled out autism.  That was the trip to the pediatric psychologist.

Are you SURE it’s not autism? Are you afraid of an autism diagnosis?

People have asked us this.  Yes, I’m SURE it isn’t autism.  No one thinks that.  Not the pediatrician, the geneticist, the neurologist, the psychiatrist, nor the speech therapists, occupational therapists, physical therapists, hippotherapist, preschool teachers or aides.  Nor do the parents of autistic children who know Maura think this.  She doesn’t even qualify as PDD-NOS as she only has one qualifier (the language issues b/c of the apraxia.)  Maura wants to be social, wants to interact with peers.  She adjusts easily to change, doesn’t stim, and has a huge appetite and has no feeding issues whatsoever. 

As for the thought that I’m scared of an autism diagnosis, allow me to laugh heartily – ha ha!  I actually do have a child on the spectrum.  And after reading other syndromes and disorders a child could have, autism just isn’t that scary to me as it would the average parent.  Besides, if Maura had an autism label, she’d probably qualify for more services and be eligible for more programs. 

Why not just get the label of autism for her?  Wouldn’t that help?

It might.  But it also might keep her from being able to get a true diagnosis.  I have a fear that if we get her labeled as autistic, then other doctors won’t want to pursue other leads.  Also, I am a stickler for the truth.  I don’t want to get a label that isn’t true.