Treat the Child Not the Diagnosis

 

The first photos arrived. The baby didn’t look “quite right.”  But all newborns are “funny-looking,” I told myself.  Don’t be an alarmist.  Keep your mouth shut, Patty!

A long career diagnosing kids’ issues; this one was really hard.  I have known the parents and grandparents of this infant for many years.  Nope, just be quiet.

He’s now three months old; the family is coming for a visit.  Wow, I’ll have an opportunity to get a closer look. I take a deep breath and enter the house. He’s very cute in an unusual way.  A little agitated; maybe he just woke up.  His parents try to calm him; not an easy job.  Bouncing seems to help.  

Can I hold him?  Sure.  I look into his pale blue eyes.  They appear to be wiggling back and forth.  A nystagmus?  Maybe.  Not a good sign.  I try hard to get eye contact. I make goofy faces, crazy sounds, dangle my keys in front of his face.  No response.  I hand him back to his daddy. 

Back home, I wonder, “What’s going on here?”  Vision is something I know more than a little bit about.  Why are his eyes wiggling?  I should be able to engage a three-month- old easily.

Maybe Goggle can help.  I type in a few key words.  There it is, in a nano-second: a diagnosis of a rare congenital anomaly.  All the symptoms are present.

Do they know?  The father and both paternal grandparents are physicians.  Of course they must know suspect something.  Or do they?

Now I have an ethical dilemma. I recognize the need to move quickly, know the importance of early intervention. If therapies start NOW, this little guy has a chance to maximize his vision and other abilities. 

With whom do I share my concerns? Maybe a loving great aunt, who supports my work. Perfect! She relates my perhaps premature diagnosis to her brother, the other grandfather   Now the dilemma is his.  He calls the doctor grandfather. No, he has not heard of this particular pathology, but he will ask his friend the ophthalmologist.  

A call back.  No, the diagnosis is faulty, because the baby has no nystagmus. What was it I saw, then?  Maybe it was intermittent, occurring only when he was tired.

Sit tight.  Baby boy goes for his four-month check-up.  The pediatrician has some serious concerns. He sees a nystagmus, makes grave conjectures about its source: a brain tumor?

Off to a pediatric ophthalmologist.  In another nano-second, my Google diagnosis is confirmed.  Prognosis unknown.  What to do now?  Wait and see!  Return in three to six months.  WHAT?  Waste valuable time.  Not acceptable!

The calls and emails begin.  First the grandfathers. How many cases of this rare condition have I seen?  NONE!  How did I diagnose it then? 

Google!  Then the grandmothers.  How did I know? I saw a baby with symptoms that I didn’t like. Are there any experts nearby who can help? Yes, I know two special people in the same town where they live!

Treat the child, not the diagnosis!  For over 40 years, that has been my mantra.

First stop, a developmental optometrist. Both eyesight and vision can be elicited with lights and other novel instruments.  Visual stimulation jump-starts some movements. She offers a positive prognosis, and a home program of visual, motor, and other sensory stimulation. Within a short time, he is responding with laughter and relatedness.  Great signs!

Next stop, a reflex expert.  Another home program. Keep stimulating his reflexes passively. Give him lots of “tummy time.” Within  a few days he can almost turn over. 

More calls.  The parents relate their gratitude and grief.  Instead of “wait and see” they now have hope and an action plan. They’re “on the case.” Not the scenario they planned, but one they can handle. In addition to the private experts, they have connected with a multi-disciplinary early intervention center and their local school system.  Perfect!  I encourage lots of “tummy time” and movement.

Still many questions. How well does he see?  Would some lenses, prisms or highly controversial surgery help him? What about further testing? A genetic work-up? Nutrition?  He is still on only breast milk. Should it be supplemented?  Will he be okay cognitively?  These are all unknowns for now.    

Bottom line. The baby’s diagnosis is just a label. No matter what the name for his condition, I would have sent this young couple to the same two experts. No matter where they lived, I could refer them to top professionals.  All of us have the same goal:  treat possible causes, not symptoms.  Use a developmental, not pathological approach. Stay positive. Work with strengths to enhance weak areas. 

As they recover from the initial shock, they will most likely need some psychological support. They have a child with a diagnosis, a possibly devastating reality for high achievers. They don’t know as I do that this outcome is an opportunity for them and their family to learn and grow.  They are unaware of the miracles that can occur. I am grateful that they have the love, time, money and other resources to do everything possible. And to start at only four months.  What a luxury!

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4 Responses to “Treat the Child Not the Diagnosis”

  1. elisabeck Says:

    Fascinating story. Amazing Babies Moving: Essential movement to enhance your baby’s development in the first year, by Beverly Stokes, would be a wonderful asset for this child’s parents and all of the practitioners involved.

  2. Integrative Pediatrics and Pediatric Optometry « The VisionHelp Blog Says:

    […] optometrists.  The first such individual was Dr. Larry Palevsky, whose acquaintance I made through Patty Lemer and her wonderful work with […]

  3. dynaread Says:

    Awesome story… Thanks for this great post.
    http://dynaread.com/

  4. Joe Kelli McCoy Says:

    This is our story! But we are at month 13 and still getting the “we don’t know, let’s just wait and see . . . schedule again in 6 months” answers from all the “specialists” we see (who also charge us greatly for this wonderful advice!). Everyone I talk to says we are seeing all the best people. We have started therapy with ECI and vision services through our school district. PT 3 times a month and vision twice a month. I feel like we could be doing more and we are wasting valuable time — especially after reading your blog. Any advice for me?

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