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

Tuesday, January 31, 2012

My lot in this life . . .

I have talked to so many about my need to do something.  To feel like I am making a difference, somehow, to someone.  I make a difference everyday to my son, but I want to reach further than that.  Than a friend mentioned something idly on my facebook and the lightbulb went off.  Bring awareness.  I'm a chatty person (some may say a big mouth lol) and I can totally do this.

Did you know that there are over 7,000 rare diseases known in the United States and that over 25,000,000 (probably closer to 30,000,000) people have one?  What makes a rare disease, well, rare is when it impacts less than 200,000 people.  So less than 200,000 documented diagnoses.  While it is debilitating to receive a rare disease for yourself or a loved one, it is even more debilitating to be in the massive group of the undiagnosed.  Those individuals who seek an answer every day of their lives.

I don't think I know anyone who hasn't heard of autism, cerebral palsy, down syndrome, muscular dystrophy, etc.  Not discounting any disease or disorder, it is those that most have never heard of that need attention to.  There are parents and patients struggling day in and day out and hearing over and over "you have what?  I never heard of it" - from friends, family, coworkers, and worst of all - their medical staff.

Let's CHANGE that.  For one second to humanize something, to bring eyes to it, awareness, education, research, treatments - we can change this world one life at a time.

As luck would have it, February 29, 2012 is rare disease day.  So I am going to start the month with a rare disease that isn't so rare to me.  One I can discuss without much research.  One I can highlight families in because I'm part of that family.  This month, we learn about Angelman Syndrome and those amazing people who have flown into our lives and hearts, on the wing of an angel.  If you have any suggestions for a disease/disorder we should focus on please, email me. - I am available anytime.

To my friend Neta - thank you for pulling the plug that lit my thought lightbulb :-)  This is definitely something I can do.  My amazing son who lives with a rare disorder daily, you are a blessing to everyone whose life you touch.  Thank you for choosing me to be your mommy.  My daughter, you are such an important part of this family unit we have.  The love you and your brother have for one another takes my breath away and puts tears in my eyes.  Thank you for becoming such an amazing young lady.  And to everyone else - thank you for the support, kind words, butt kickings when needed, etc. - I wouldn't be standing without you!