2. What is it?
Angelman Syndrome is a rare genetic disorder the
affects 1 out of 15,000 people.
This disorder affects the nervous system.
It is resulting from a defect in the maternally inherited
copy of chromosomes 15q11.2-13
Meaning that chromosome 15 is missing, and there is a
break in part of chomosome 11-13.
3.
4. Genetics behind Angelman
Syndrome
There are different levels of Angelman Syndrome but
no level is hereditary based.
Most cases of Angelman Syndrome are not inherited.
It is usually caused by a deletion in the maternal
chromosome 15 or by paternal unipaternal disomy
(UPD).
UPD is when there is 2 copies of the fathers
chromosome 15 and the mothers copy is missing.
In some cases the fathers copies are silenced so you
cannot tell at birth that the child has angelman
syndrome (AS)
5. Other Causes
Angelman Syndrome can also be caused by a chromosomal
rearrangement called a translocation, or by a mutation or other defect
in the region of DNA that controls activation of the UBE3A gene.
In these genetic changes it can inactivate the UBE3A or other genes on
the maternal side.
Imprinting: Genomic imprinting refers to a process whereby the
maternal copy of a gene can be marked or “imprinted” differently than
the paternal copy of the same gene
6. Deletion Positive
Class I: Class I deletion is the smaller deletion. Kids
with a Class I deletion often have earlier
milestones, stronger skills, milder epilepsy.
Class II: A larger deletion and stronger side effects.
7. Characterization
This genetic disorder is shown
They tend to have
with development delays, severe
hypopigmented skin meaning
speech impairment, disorders of
they have light hair and light eyes
balance or movement, and
compared to the rest of the
frequent laughter.
family; this is only seen in
The angels have a happy
deletion cases.
demeanor all the time and they They may have feeding problems
are easily excited.
during infancy.
Seizures are very common with
They may have excessive chewing
this disorder usually at less than
or mouthing disorders.
three years of age. The severity of
Attraction to or fascination with
seizures usually decreases with
water; fascination with crinkly
age, but it does last through
items such as papers or plastics.
adulthood.
8. History of Angelman Syndrome
Angelman Syndrome was diagnosed by Dr. Harry
Angelman in 1965.
Before the diagnosis they called the disorder “Happy
Puppet Disorder” because of the way the person
moved their arms and hands, and the way they smiled.
It looked as if the persons arms were being held up
with puppet strings.
Instead of Angels they were called “Puppet Children”.
9. Comparison
Development of a 5 month old without the trait: By the end
of this month, your 5-month-old baby will probably be able
to sit up with some support, and be able to pass toys from
one hand to another. Depending on how long your friends
and family visit you, your baby might start displaying a
wariness of strangers
Development of a 5 month old with angelman syndrome:
Just happy all the time, not sitting up on their own, not
passing toys from one hand to another. Not recognizing
faces other than every single day familiar faces.
The life expectancy for someone with Angelman Syndrome
is the same as someone without AS.
10. Research
There are two researchers looking
for a cure for AS.
Edwin Weeber and Ben Philpot.
They’ve found a cure for AS in
animals, they are looking for a
cure in humans.
They say they will need 20 million
dollars and five years to find a
cure for Angelman Syndrome.
"If ever I thought an eventual cure
for Angelman Syndrome did not
exist, I would stop doing AS
research tomorrow..... Let's make
a deal. I promise to spend my life
searching for a cure for AS if you
promise not to let anyone's
comments dash your hopes that
your child will some day have a
voice." -- Dr. Ed Weeber, Principal
Investigator, Angelman Clinical
Trial
11. Foundations & Organizations
FAST: Foundation for Angelman Syndrome
Therapeutics. www.CUREAngelman.org . FAST
mission statement, “ There are many diseases &
disorders that will not be cured in our lifetime. With
your help AS will NOT be one of them.”
Every two years FAST has a Gala for families with
angels to come and talk to one another and just have a
good time. They hear about eachothers experiences.
ASF: Angelman Syndrome Foundation.
www.angelman.org . ASF mission statement, “Give
them a reason to smile.”
12. Fighting Angels Foundation
https://www.facebook.com/pages/Fighting-Angels-
Foundation/429064183878133
This is a foundation for Joey Moretti who was
diagnosed with angelmans syndrome.
They are coming together to raise money towards the
cure for AS.
13. Joey’s Story
Joey was born at 38 weeks gestation with no complications. He was the absolute cutest 4lb 13oz "old
man baby" ever! That Sunday night the light of OUR life was switched on, but little did we know he
had a switch turned off and a tiny piece of chromosome 15 missing in his genetic makeup.
Our 1st few days and weeks home were a bit challenging. Not because we were first time parents with
a newborn, but more so because of latching issues and 1 hour feedings for something so small as an
1oz. With persistence and creativity he continued to gain weight. These early days at home flew by
and at 7 weeks of age came the 1st storm. I was just back to work from maternity leave just barely a
week and received a call from my mom letting me know that she had called an ambulance because
Joey's body was tense, going into a "C" shape and his eyes were “sort of rolling back”.
It wasn't until Joey was about 5 months that we started to become concerned about his progression.
After each ‘well visit' with our pediatrician we were always left with this weight of worry I guess you
would call it, after being asked numerous questions about his milestones. The word “No” was usually
our response to can he do this or that. At times l’d feel as if I did something wrong or I wasn’t doing
enough to get him up and running. 5 months was about the same time that our pediatrician highly
recommended Early Intervention. The cost of this program weighed heavily on us, but of course we
were going to do this for our boy. Money was not going to keep us from allowing him to get the help
he needed.
14. Cont...
The details of the early days can go on and on. Fast forward a bit with little to no gross developmental
progress and at 9 months of age Joey began Physical Therapy through Connecticut's Birth To Three
early intervention program. At a year and 1 month Occupational Therapy began. Followed by Speech
Therapy a few months later. Joey started hitting a few milestones and we couldn't be prouder. Still
delayed? Yes, grossly, cognitively and receptively, but not to worry...'he will catch up'. Honestly, I don't
think it really hit us on how delayed he was until he would play with other children his own age. Our
concerns grew, but so did Joey's skills. However, he still was not 'catching up'. At about a year n' 1/2 we
started questioning whether or not he had something else going on. This question was always
followed by "nope, he doesn't have that".
A simple phone call from our neurologist with the results of Joey's genetic blood work rocked our
world. "Joey has what is called Angelman Syndrome. He has a deletion on chromosome 15. I'm sorry.",
explains our neurologist from her muffled cell phone. Of course my response is, “what does this
mean”, and I was basically told he will never catch up to his peers. There are severe intellectual
disabilities that come with Angelman Syndrome. Still at this point it wasn’t clear to me what this
meant for Joey. You'd think there would be a better explanation from a pediatric neurologist.
We learned more on our own over the next few hours, days and weeks post diagnosis from you tube,
social media, and finding our new Angelman Family that we never knew existed.
Every single day we are reminded that our son has a life altering disability, but we refuse to accept that
'HE WILL NEVER'. Joey is beating the odds every day and continues to rewrite the textbooks as do
other Angels his age and older. The possibility of a cure is not unimaginable. Together with our family,
friends, funding research and HOPE our son will one day have a voice, walk and be an asset to the
world. He will beat the odds because we BELIEVE he can!
15.
16. Cure
AS has been cured in mice both genetically and
pharmacologically. This lets us know we CAN find a
cure for AS in humans.
The gene responsible for AS is the maternally inherited
copy of UBE3A, when it is not expressed in the child.
The paternally inherited copy of UBE3A is present but
in most cases silent.
If scientist and doctors can safely activate the paternal
copy, the protein of this gene could be restored
without the need of gene therapy.
