Misdiagnosis?

I've been keeping something from you, gentle blog readers. Something ominous, scary, life altering and depression inducing. But I'm ready to talk about it now, if you are ready to listen.

We took Lois to Charlottesville to see the developmental pediatrician at Kluge Rehabilitation Center, part of the University of Virginia medical system. Kluge is well respected, and many of the parents I know here in Richmond with children with DS visit Kluge annually to get an overview of how their child is doing developmentally and to seek the opinions of specialists if needed. We took Lois for her first visit last year for just that reason. We wanted to know how she was doing and if there was anything more we should be doing to help her be her best. I was disappointed in our original visit. We saw a developmental pediatrician for only 15 minutes and left with little information we didn't already know. I mean, how can a physician really assess a child in 15 minutes?


But when Kluge called this summer to schedule a 1 year follow up, I jumped at the appointment as I was looking for a second opinion on a variety of issues. I made a list of maybe 5 items to discuss - Lois's hearing, nutritional supplements, the efficacy of orthotics in the DS population, etc. But honestly, I didn't' get good answers to those questions which was rather disappointing. Within 5 minutes of sitting down with Lois and Jay and I, something came out of the developmental pediatrician's mouth that was SO unexpected, SO nonsensical, that Jay and I were shocked into silence.


Keep in mind, our visit began with a 15 minute talk with the nurse who took a careful history of what Lois has achieved in a variety of areas - and what she is still working on. Then Dr. A arrives with a barn full of plastic animals and proceeds to "play" with Lois for about 5 minutes while she asked us a few questions:

"Does Lois point to what she wants?"

"No."

"Does Lois shake her head for Yes and No?"

"No."

"Does Lois like other children?"

"Lois hasn't had much experience with children her own age. She's timid and sometimes scared. But she likes older children very much."

"How is her attention span?"

"She can spend 20 minutes playing with a book. Not looking at the pictures so much as just playing with the pages, bending the cover, etc."

At this point, Dr. A looked at us and said we might need to consider that Lois is autistic.

Are you shocked? Is your mouth hanging wide open? Imagine how Jay and I felt. This was the LAST thing I ever anticipated hearing about Lois.


We left completely shattered and wondering how we could be missing what Dr. A. was seeing. Lois was our first child - we accept her for who she is and attribute her quirky behavior to that little extra chromosome. Maybe we should be attributing it to something else? But we are blessed to have LOTS of friends who have children with DS who are the same age as Lois. I KNEW they weren't pointing to what they want. I knew they weren't really nodding yes and no. And I knew they sometimes played with toys in unusual ways. Lois fits right in.

Every therapist, educator, and physician who has ever had any contact with Lois got a visit or phone call from me in the next 2 weeks. I was desperate to know if any of them had ever seen anything to confirm this doctor's suspicions. I heard things like:

"If Lois is autistic, then we both are too."

"I'm trained to recognize signs of autism and I don't see a single thing from Lois that indicates she could be autistic."

I contacted the Kennedy Kreiger Institute who are the nation's experts on the dual diagnosis of Down Syndrome and Autism Spectrum Disorder. They sent me some checklists to complete about Lois's behavior - and she wasn't exhibiting a single behavior on their checklist.

As I did my research, I was dismayed to find myself looking at Lois differently. I was constantly studying her behavior and unfairly attributing most of her quirks to autism. When Lois is excited, her legs go straight out in front of her and she waves her hands over her head. I always found it sweet and cute - now I wondered if this was the "hand waving" they described as a sign of autism. She started using her drum stick to comb her hair. Being silly? Or practicing some strange sensory behavior? It was painful. I have always found Lois to be the most perfect little bean in the world. Suddenly she seemed like a stranger.

I'm not proud of what I just wrote. Just so you know.

A month later, I am comfortable with the assurances of Lois's therapist and physicians that this diagnosis does NOT fit my child. She is the perfect, silly, quirky butter bean she has always been and I celebrate the extra chromosome that makes her all of those things every day.

But I must confess that I am one angry, bitter woman towards the pediatrician who would so recklessly offer such a diagnosis after spending little or no time interacting with my girl. If she had some suspicions after listening to us, then ask us to come back for a thorough evaluation. Watch her playing with her books and then tell me it's "atypical." Watch her turn away from her peers and then tell me it's due to sensory integration issues instead of the result of living a sheltered life. To so cavalierly drop this pseudo diagnosis on us after 15 minutes and then say "See you in 6 months! I hope I'm wrong!" is down right unethical, in my opinion.


As I reread my post, I realize I am displaying a prejudice that I feel I must defend. Autism scares me, OK? I've taught autistic children who were completly locked away inside themselves and unable to successfully and meaningfully communicate with their peers or even their family. It's such a devastating disorder. Yes - I do know that there is a spectrum of autistic disorders and the student I describe was certainly on the severe end of that spectrum. But when I heard autism, this is what I imagined. I did not cry when I learned my daughter had Down Syndrome because I had a very clear picture of what her future looked like and it didn't scare me at all. But what would her future look like with both Down Syndrome AND autism? I had no idea - and that ignorance was frightening.


Although I am feeling so good about what the experts around my daughter are telling me, Dr A. has planted a seed in my head that has managed to take root. I expect for years to come I will be watching and waiting for what Dr. A. told me to come to fruition. And, much to my husband's dismay, I will keep looking for things on the Internet, asking questions of other parents, and being ever vigilant for any sign of a problem. But for today, I'm going to push all of those thoughts to the back of my mind and enjoy the every day adventure of raising my beautiful, quirky little girl.