By: Deanna Marra, Brooke Girard, Ricky Bartone

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.

Genetics behind Angelman SyndromeThere 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)

Other CausesAngelman 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

Deletion PositiveClass 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.

CharacterizationThis genetic disorder is shown

with development delays, severe speech impairment, disorders of balance or movement, and frequent laughter.

The angels have a happy demeanor all the time and they are easily excited.

Seizures are very common with this disorder usually at less than three years of age. The severity of seizures usually decreases with age, but it does last through adulthood.

They tend to have hypopigmented skin meaning they have light hair and light eyes compared to the rest of the family; this is only seen in deletion cases.

They may have feeding problems during infancy.

They may have excessive chewing or mouthing disorders.

Attraction to or fascination with water; fascination with crinkly items such as papers or plastics.

History of Angelman SyndromeAngelman 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”.

ComparisonDevelopment 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.

ResearchThere 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

Foundations & OrganizationsFAST: 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.”

Fighting Angels Foundationhttps://www.facebook.com/pages/Fighting-An

gels-Foundation/429064183878133This is a foundation for Joey Moretti who was

diagnosed with angelmans syndrome. They are coming together to raise money

towards the cure for AS.

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.

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!

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.

Citationhttp://similac.com/baby-development/5-month-

old-baby-tips-advicehttps://www.facebook.com/pages/Fighting-Ang

els-Foundation/429064183878133www.CUREAngelman.orgwww.angelman.orgwww.iconn.org : angelman syndrome- article

number 4 and article number 18.www.wikipedia.comwww.google.com/images Flyers. (passed around)Joey Moretti’s Mom.