Doctor, what’s wrong and tell me what to do…

Perfect Baby…
Our special needs son W was born 18 years ago looking perfect, with a full head of shiny black-brown hair and gold and cream colored skin. He was our first, and only. Nothing on our Little Prince seemed unusual or damaged. He was so long that he didn’t start with chubby cheeks. In the Italian baby jumpsuit a friend had given him, he looked like a slender European Formula 1 race car driver, minus helmet. He was my Little Einstein because of his intense “concentration” on books – the phone book, or my piano sheet music. He was my Little Mozart the day he waddled into the next room during a show about whales and hit the same note on the piano that a whale had just sung.

We could measure height against a chart, but had no yardstick for his language. Remembering my parents’ tricks, I showed him “phonics” (“Buh buh buh buh bus Bee!”), letters, numbers, and sight words on things at home and signs outside.

The words he said one time by age 2 seemed brilliant and specific (garden, Jello, donut). But each day he said maybe two or three clear words, one time each, period, and then that word was never spoken again. We didn’t know that a typical toddler babbles many syllables and sounds and word-like approximations all day.

What is a Diagnosis?
W’s full list of developmental disabilities were clear around ages 3 and 4: autism spectrum disorder, with severe verbal and facial apraxia and fine motor ataxia. The diagnoses roll off my tongue now without flinching or stammering, but for years they were mysterious.

Some Get Many Diagnoses, But Some Get None
Some children I know were teenagers before they received a true medical diagnosis. But in order for a child to receive services of any kind – special education, specialized medical care, or therapies – the child must first have a diagnosis.

There is more than one type of diagnosis:
* a diagnosis that points to symptoms, even if the cause is not known, and/or
* a diagnosis that suggests a medical cause.

Medical Diagnosis Limitations
Diagnoses about medical causes sometimes help, but diagnoses can rarely tell you what you need to know about severity, and sometimes they are misleading about symptoms. For example, cerebral palsy, or CP, can leave a person bound to a wheelchair, unable to self-feed, with very limited senses (hearing, sight), and so on. Or the person with CP can be Josh Blue, win a national standup comedy contest, and become a traveling professional comic.

Education has helped everyone I’ve met with a developmental disability, with perhaps one exception in a thousand. Education and therapies are expected to treat symptoms, rarely causes. Because education can start in infancy, the first diagnosis you get is often for “educational” purposes, not medical ones. If a newborn’s issue is spotted at birth, the medical diagnosis arrives to the parents first. Often, however, the second round of diagnoses is medical.

Medical Diagnosis? Done. Now what?
Do you really want the doctor who sees your 2 year old to tell you what to expect of your child at age 25? Life isn’t all predetermined. Let’s take two disorder as examples, rare (e.g., CHARGE Syndrome) or relatively common (e.g., Down Syndrome). You’ve probably seen someone with Down Syndrome or have a guess of the facial features. (Actors with Down have been in TV shows and movies.) The range of what a person with Down Syndrome will be able to do as an adult is wide. The medical diagnosis doesn’t tell you as much as you’d think about the right prescription for education and therapy because people are unique. CHARGE Syndrome has so many symptoms that it can be very severe. But depending on the person and their surgical and educational history, people with CHARGE vary, too.

Diagnosis: Autism Spectrum Disorder
Autism is now officially called Autism Spectrum Disorder. It is a diagnosis with no known medical cause. Sorry. (It probably has several causes that we don’t know yet, not just one.)  The term sounds medical, and is listed in the psychiatric manual, but the diagnosis is based on the person having some behavioral symptoms. No blood tests or physical exams will show it. (Not every medical problem can be studied through genetics!)

The word autism was first coined over a hundred years ago, well before DNA. It remains a grab bag diagnosis. If people who’ve been said to have “autism” are found to have a specific genetic market, that cause becomes its own medical diagnosis (such as the genetic disorder called Fragile X, brain inflammation, or a mitochondrial abnormality).

The saying is: “If you’ve met one person with autism, you’ve met one person with autism.” Generalizations from an autism diagnosis are problematic. While intervention is generally very promising, for some children, some standard assumptions and treatments are counterproductive. Let’s “meet” two people with autism.

Individuality: Autism is a spectrum
* About 20 years ago, Temple Grandin, Ph.D., described her autism as “thinking in pictures.” She teaches and consults. But she looks wooden, dresses in cowboy shirts, and can’t stand being touched. She designs animal management and slaughterhouse systems.

* My son W responds to spoken or written words but gets confused by photographs. He cannot speak, but mumbles or hums. He likes to kid around with people and can use a touch screen program to speak phrases for him. He doesn’t “look” autistic. At age 17 the hostess at Hard Rock Niagara Falls told him to sit at the bar if he wasn’t taking a menu. He can hug and has won at least one girlfriend by holding her hand. The patience and social demands of his traveling hockey team are beyond some much “higher” functional people with autism, whether or not they can speak.

Be careful how you define high and low functioning. Dr. Grandin is very accomplished and writes books, but she looks strange, has difficulty with humor, and is socially awkward. My son will have difficulty getting himself washed and dressed but is fashion-conscious, understands sarcasm, makes jokes, and makes friends.

Don’t We Need a Diagnosis?
The schools a child attends will generally require a medical diagnosis in order to provide services. Sometimes the diagnosis will help doctors and schools decide what to do. Insurance will require a diagnosis, too, of course.

Some people with substantial disabilities have no known cause, and sadly, that might make it hard to qualify for services. You will have to show that the problem is affecting participation in school, or impairs major life skills, and you may need to prove the issue repeatedly.

“My Child Deserves a Medical Diagnosis!”
Many parents spend decades searching, and sometimes they find a medical abnormality that could explain their child’s issues. Genetic diagnoses sound hopeful because they are clear, and then the parent “knows.” But genes aren’t destiny: I’m met people with fetal exposure to alcohol or drugs (i.e., fetal alcohol syndrome/FAS), or with brain damage from birth (e.g., cerebral palsy/CP).

Many parents never do find a medical cause. Or they decide for themselves that this thing (vaccination, food coloring, etc) is the culprit. We sometimes just want uncertainty to go away.

I’m skeptical of the value of finally finding out the medical “cause” beyond childhood for several reasons. The brain takes in the sum of our experience, and people with impairments have different experiences. As children become adults, society expects them to take responsibility for their own learning. Imagine that a “cure” is discovered when your child is now age 25. (By age 25, male brain myelinization and connections to the pre-frontal cortex are complete. Girls’ brains mature earlier.) Without intensive intervention, your 26-year old son’s improvement will be modest compared to him getting a cure at, say, age 15, or age 5. Your adult child will learn and improve to the extent that he or she takes responsibility for his own learning, despite decades of inexperience in doing so.

“Okay, but… I still want to get a diagnosis!”
I have sympathy with parental desire to get better medical treatments. But diagnosis is not everything. An earlier blogpost notes that parents can seek medical attention for hidden issues. A medical diagnosis might help anticipate problems (such as heart valves in Down Syndrome). But you don’t need a specific diagnosis to get medical attention. (Please see my earlier blogpost.)

A good physician and good referrals to specialists are going to be necessary even if you have “a diagnosis.” (If you have insurance, sad to say, there are no guarantees the bills will be covered. So check first.) You see the specialist in intestines for intestinal issues, the hearing and balance specialist for the those problems, and so on.

Treat the person with disabilities as a person, the child as a child. Notice details that can help physicians. And be patient… Diagnosis is not destiny.


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