Monday, December 19, 2011

Genetics 2.0

When M was six weeks old  and we were inpatient at Children's Hospital, he was evaluated by the geneticist.  Extensive testing  was done....a general chromosome karyotype,  tests for specific genetic abnormalities, blood chemistry.

Eight weeks later, we received the doctor's final report. The report was three pages long.  The first page summarized the evaluation.  M's height, weight and other vitals were listed.  Individual body systems were listed, along with the words, "Normal unless otherwise noted."   Almost every body system was "otherwise noted" in M's report.

The final page read:  "Normal 46 XY Male.  Diagnosis not obvious.  Follow up in one to two years."

I was confused.  I called the genetics clinic.
"I don't understand. There is obviously something wrong with M. His report is three pages long outlining one abnormality after another. You ran so many tests, how come we don't have an answer?  Why don't we know? How can the report say 'normal' when M isn't?"
I was told that sometimes, especially with a very young child, that we have to "wait and see what he shows us."  We had to wait an see if anything new cropped up.  I'd never felt so frustrated.

He'd already been diagnosed with:
Joint Laxity
Joint Hypermobility
Renal Duplication
High Grade Vesicoureteral Reflux
Enlarged bladder
Focal seizures
Adverse anesthesia reaction
Dysmorphic Features
Global Developmental Delay

I couldn't imagine adding more to this already long list.  Yet, by the time M was two and it was time to go back to genetics, we had indeed added more.  Much more:

M was severely nearsighted.  He also had alternating exotropia, meaning that his eyes turned outward.  He had difficulty with visual tracking.  He began wearing glasses full time as an infant.

M had developed allergies.  He had two anaphylactic reactions where his throat closed and he required an injection of epinephrine.

He'd had difficulty with tolerating cold and heat and with regulating his body temperature.  M had several episodes where overstimulating environments would cause him to "shut down" and he would fall into a deep sleep.

M had several episodes where his white cell count would unexpectedly drop.  Sometimes it would drop so low that he required daily antibiotic injections to protect him from getting bacterial infections.  For his own protection, he had to be home bound until his white count began to rise.

M began getting nasty ear infections.  His eardrums began to rupture with almost every ear infection. Infections took weeks to get rid of.  It was decided that oral antibiotics were just not working fast enough on him and he would go straight to antibiotic injections whenever he had an ear infection.

Whenever M caught a cold, it would hit him harder and last longer than it would with a typical child.  He experience difficulties breathing and would almost always require a course of steroids to help him kick the infection.

His skin was velvety soft and stretchy.  He bruised easily and cuts were slow to heal. He could dislocate his own thumbs. He had extremely long fingers and toes.

He began growing at a rapid rate.  Mr.A and I are both tall people, but M's growth is considered to be abnormal. Both height and weight were far, far off the charts.

M showed signs of having Autism Spectrum Disorder.  He began to perseverate on certain things and developed self-stimming behaviors.

He had gross motor dyspraxia, meaning that there was a disconnect between his brain and limbs making him appear quite clumsy.  His movements were ataxic; movement that should have been smooth and fluid were uneven and choppy.

I now understood what the geneticist meant when she said, "We need to see what he shows us."

We returned to genetics when M was two.  We discussed more possible syndromes.  More tests were run.  There were newer, more sensitive chromosome tests available.  We agreed to all the suggested testing.  We waited another eight weeks.

The results came back:  "Normal.  Diagnosis not obvious.  Follow up in one to two years."

I did not ask as many questions this time.  I already knew the answer:  "Wait and see what he shows us."  Science had not yet caught up to my son.

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