Gillian Marchenko

Down syndrome and Autism (DS-ASD), a dual diagnosis

Last week we officially received news that after a plethora of diagnostic tests, our daughter Evangeline, who is almost seven years old and has Down syndrome, also is found to have Autism Spectrum Disorder.

Crap.

Now, let me back up. This is actually a diagnosis I’ve pushed for for four years.

Someone asked me recently, “When was the first time you suspected that Evie had autism?”

“The day I met here in Ukraine in 2009.”

Although tested two times before, we could not seem to get a diagnosis for Evie because of the time she spent in an orphanage in Ukraine before she came home with us.

But this time we got the diagnosis.

I wasn’t sure how I would feel seeing/hearing the words. During our appointment, I smiled while my lip quivered. I agreed, and asked questions, and wiped tears from my eyes.

Long term, I’m glad we have the diagnosis. Evie will receive more services, and in a way, we are validated as her parents. I kept wondering what I was doing wrong … why she was so closed off to us, and why after so much therapy she didn’t seem to progress.

Short term, it is a blow, and I’m sad.

Can I just say, truthfully, for myself and for other parents who combat new diagnoses daily … I’m clinging to two things … 1) Evie IS the same girl I love, and 2) it is right for me to grieve the loss for her and for myself and our family. Grief is the normal response to loss.

Grief is the normal response to loss.

I know this won’t always seem like a loss, but today it does. And so I grieve. And it is OK. I can love her to the moon and back, and grieve.

Some of you have contacted me privately … how did you know … what symptoms showed up … I think my child might have a dual diagnosis as well.

According to the Kennedy Krieger Institute, if a parent suspects that his or her child has a dual diagnosis of Autism and Down syndrome, here are the signs to look for:

Group One

Children in this first group appear to display “atypical” behaviors early. During infancy or toddler years you may see:

• Repetitive motor behaviors (fingers in mouth, hand flapping)
• Fascination with and staring at lights, ceiling fans or fingers
• Extreme food refusal
• Receptive language problems (poor understanding and use of gestures) possibly giving the appearance that the child does not hear
• Spoken language may be highly repetitive or absent

Along with these behaviors, other medical conditions may also be present including seizures, dysfunctional swallow, nystagmus (a constant movement of the eyes), or severe hypotonia (low muscle tone) with a delay in motor skills.

If your child with Down syndrome is young, you may see only one or a few of the behaviors listed above. This does not mean your child will necessarily progress to have autistic spectrum disorder. It does mean that they should be monitored closely and may benefit from receiving different intervention services (such as sensory integration) and teaching strategies (such as visual communication strategies or discrete trial teaching) to promote learning.

Group Two

A second group of children are usually older. This group of children experience a dramatic loss (or plateauing) in their acquisition and use of language and social-attending skills. This developmental regression may be followed by excessive irritability, anxiety and the onset of repetitive behaviors. This situation is most often reported by parents to occur following an otherwise “typical” course of early development for a child with Down syndrome. According to parents, this regression most often occurs between ages three to seven years.

http://www.kennedykrieger.org/patient-care/outpatient-programs/down_syndrome_autism_spectrum_disorders

Evangeline’s symptoms include being non-verbal, staring at musical and light up toys, putting her hands near her eyes constantly, clicking her esophagus, teeth grinding, eating non-food items, sketchy eye contact at best, taking my hand to do something (instead of using her own) … You know, just to name a few.

As we go, I’ll share if/how this new diagnosis affects Evangeline and our family. I’ll share about how therapy goals have been altered, and what new bag of tricks are brought to the table with  in addition to Down syndrome.

I will educate myself (although I’m not happy about diving in to a new pool of special needs. I’m the mom who know about Down syndrome! That’s my MO! Not autism!), and I will fight for services and therapies that will help Evie reach her potential.

But today … today I’m just going to chew this news down a little bit more, until it can slip down my gullet.

That’s all I can do today.

To learn more about DS-ASD, check out The Kennedy Krieger Institute’s article, Down syndrome and Autism Spectrum Disorder, a look at what we know.