Angelman Today January / February edition 2014 | Page 9

A Cure for Louie
By Terry Jo V. Bichell, MPH, CNM (PhD candidate)
Nashville, TN February 26, 2012
I learned, while traveling in Nigeria long
ago, that the child who follows twins is
supposed to bring luck, or be lucky, or
carry some kind of am azing happy
blessing. I remember thinking about
that luckiness when I saw Louie’s
squished newborn face, just after his
cord was cut.
Louie was born in February, 1999,
sweet, social and sleepless just like his
big sisters. We didn’t learn until a year
later, when we sought a reason for his
inability to sit up and crawl and babble
like all the other playgroup babies, that
he was born without a crucial piece of
my 15th chromosome. He was made
from a good sperm and a bad egg.
Ironic, considering that the last two of
his four older sisters had come from an
egg so lucky, it split in half and made
gorgeous, brilliant identical twins.
The egg that made Louie had a tiny
chunk missing, while the sperm was
perfectly intact. The lack of that little
piece of maternal DNA, specifically the
lack of one particular gene, Ube3a,
causes Angelman syndrome. Since his
diagnosis, I have dreamed of Ube3a,
pondered Ube3a, cursed Ube3a and
pleaded with Ube3a. Why did that little
piece fall out? Was it my Fourth of July
beer drinking in the month following his
conception? Was it my bad behavior as
a high school and college student? Was
it a karmic curse for selfish decisions as
a young adult? Was it because my
parents’ neighborhood in Texas had
been regularly sprayed with DDT? Was
it because, as good Christians assured
me unbidden, our family could uniquely
handle a child with a severe disability,
and we had been chosen for this task
by a higher power?

It turns out that this section of the
human genome is just a weak spot in
our genetic code, a chunk that is prone
to falling out, or rearranging itself .
These genes fall out before or during
conception without regard to age,
substance abuse, socio-economic
status, race, ethnicity, religion or
sexual preference. It is just bad luck.

When Louie was diagnosed with
Angelman syndrome, we were told,
with variable sensitivity, that he would
have severe epilepsy and severe
mental retardation, now referred to as
an intellectual disability by “PeopleFirst” terminology. We were told that
he might never walk, he might never
eat normally or toilet-train, he would be
hyperactive, sleepless and a danger to
himself during the long sleepless
nights. With good care, he would live a
normal lifespan and, he would never
speak a word. It seemed to my
husband and me to be pretty bad luck.
Or was it? My husband is a pediatric
heart surgeon, and his patients are
babies born with only half a heart, or
hearts with a missing piece, or a
twisted section, or a mismatched
middle. Usually, he fixes their
enormous cardiac bad luck, and these
delicate babies come out of the ICU to
be pink and vibrant. They grow up and
play sports and come back to visit and
shake his hand.
I never doubted that there would also
be a way to fix the missing piece of
Louie’s DNA.
Louie was lucky to be born a mere 2
years after brilliant scientists

Art Beaudet and Joe Wagstaff had
identified maternal Ube3a as the
source of Angelman syndrome.
They had also found that the normal
companion gene on the paternal
15th chromosome, was turned off,
as it is in everyone. All of us leave
our father’s Ube3a to rest, using
only our mother’s Ube3a to do what
needs to be done. So, Louie was
missing the Ube3a that I should
have given him, and his father’s
Ube3a was just sitting there,
perfectly good, but dormant.
It seemed possible, plausible, to be
able to get that paternal Ube3a off
the couch and into the kitchen. All
we needed to do was turn it on
somehow, and maybe Louie would
walk, eat, sleep well, and speak.
My husband and I used all our
medical wherewithal to help the
brilliant scientists move their ideas
about awakening the paternal gene
into clinical trials and real kids.
Despite all the best efforts, nothing
worked. The paternal Ube3a
stayed a snooze. I went back to
school at the age of 50, to join the
quest for the holy gene grail myself,
as a PhD student in neuroscience,
convinced that the cure lay almost
visible, reachable, just over the next
hump. And it was.
In an amazing stroke of good
fortune, two young scientists,
Ed Weeber in Florida and Ben
Philpot in North Carolina, joined
the fray and independently
went to work on the problem.
In December 2011, right before
the holidays, both published
papers.