Angelman Syndrome

Angelman Syndrome is a disorder that is caused by the loss of function of a specific gene. This gene is located on the chromosome 15, and it is responsible for providing instructions for making a protein called UBE3A. This protein is essential for normal brain development.

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Angelman Syndrome results in characteristic features, such as severe intellectual disability, developmental delays, speech impairment, and problems with movement and balance.

In addition to these physical symptoms, people with Angelman Syndrome often have a happy demeanor and frequently laugh and smile. They may also be attracted to water and have a fascination with lights and movement.

While there is no cure for Angelman Syndrome, early intervention and support can help improve the quality of life for affected individuals and their families.

I have a friend whose second child has Angelman Syndrome. They have the most loving family, 3 beautiful children, Colti is their middle child who has this syndrome. They are amazing!

Below are several excerpts from her posts on Facebook. With her permission I’d like to share with you.

“ My boy got a new whip! 🤗 Now we just have to teach him how to drive! 🫠 #HowDoYouStartThisThing #HeHATESit #Walking #SpecialNeeds #NextLevel #SlowAndSteadyWinsTheRace #MyBoy💙 #AngelmanSyndrome #PhysicalTherapy #ColtiDaber #LittleWarrior #Peanut #NewWhip #ColtonJonathan

“ In our house we read books about Chromosomes. We talk about our bodies & our brains, how they came to be, how different everyone is, & all of the reasons that those differences are wonderful.

Realistically, we have children’s books about chromosomes because we have a child/sibling that is missing a piece of one of them. Having a son/brother with Angelman Syndrome has opened our eyes to the big world of children with special needs & just how common it actually is! There is a whoooole lotta “Rare” out there!

I want my children to know that different is not scary. It’s not weird, or stupid, or messed up, or crazy. Our brains simply work differently. These are our genes & as long as everyone’s doing the best they can, it is good enough & they are valuable. EVERYONE is equally valuable to the world. You are not better, or superior, because you are are able to walk, talk, or breathe without assistance. Those things are blessings & none of them are promised, so remain grateful to whoever it is you are grateful to. 🙏🏼

So I’ll ask all of my Parent friends for a favor…. Buy a children’s book about chromosomes. (This one is about Down syndrome)

Talk to your children about different people with DIFFERENT needs. Teach them that different or “special” is not scary or sad. It’s simply Chromosomes.😊

Having a different brain is as normal as having a different face. We’re all made a little different & a little the same.

Education is the key to inclusion for all that are considered rare! Whether your born rare or became rare. So, please! Educate your babies, so babies like mine don’t need to battle anything more than what the universe has handed them. ❤️

#AngelmanSyndrome #rarediseaseawareness #Chromosomes #DownSyndrome #Genetics #Rare #handicap #braininjuryawareness #angelmansyndromeawareness #rettsyndrome #cerebralpalsy #Autism #autismawareness #canavandisease #multiplesclerosis #spinalbifida #spinabifidaawareness #birthdefects #epilepsyawareness #ADHD #WeAreRare #ColtonJonathan #DawsonThomas #JulietOlivia #SpecialNeeds #Specialneedsiblings #MomLife #DadLife #inclusion #SpecialNeedsMoms

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