Thursday, February 2, 2012

Angelman Syndrome

Until October 17, 2010, I knew only briefly about Angelman Syndrome ("AS").  And only because I was so intent on finding out what was wrong with my boy.  I had this huge laundry list of symptoms but no overlying reason WHY he had all these issues.  To compound my angst, he was growing well, he didn't have seizures, his head was growing proportionally to his body and JEEZ was this kid happy.  Always happy.  To the point that doctors looked at me funny when I'd say "look, I know I shouldn't complain about this but he is SO HAPPY."  Try it.  Turns out Dr. Google was the only one who would listen to me.  One night, on a whim, I typed in all of W's major issues, including insanely happy.  What came up instantly was a document from a California med school (can't remember which right now) neurological program.  Directly to Angelman Syndrome.  And he definitely meet much of the criteria, though not all of it.  That was ok, I would learn, AS is a spectrum disorder like autism, etc.

So what is AS?  Per wikipedia it is a neurogenetic condition caused by a break or deletion on the 15th chromosome.  Normally a fetus is given a maternal copy of 15 and a paternal copy of 15.  In normal births, the maternal copy of 15 carries the genetic code.  1 in 20,000 births results in a deletion or "break" in a segment of the maternal copy of chromosome 15.  My son has a rarer form, in that 3% of that 1 in 20,000 (yeah, can't do the math on that) has Uniparental Disomy Angelman Syndrome.  In essence, at conception, W got one maternal copy of 15 and two paternal copies.  A trisomy (three) of chromosome 15 is not conducive to life, so his little developing self got rid of the maternal copy and, voila, AS.

Signs and symptoms of AS include:
  • developmental delays
  • Inability to walk
  • Lack of or minimal speech
  • Frequent smiling and laughing
  • Seizures
  • Trembling of extremities (tremors)
  • Stiff movements
  • Waving hands
  • Strabismus (crossing eyes)
  • Hypopigmented (lighter skin, hair)
The only way to determine AS is via a blood test normally administered by a geneticist or neurologist.  They will do a UBE3A test (the segment on maternal 15 broken or deleted) and a methylation test.  The methylation test determined our AS.

More tomorrow!  If you have any questions, feel free to comment or email me at