This one is important, and I want you to read it. I read blogs, and a lot of the time I do just look at the pictures, I know your time is limited, but you might just change someone’s life.
Today, on the 15th of February, is International Angelman Syndrome Awareness Day. Until very recently we had never heard of Angelman Syndrome, until we came across an article that described our sweet Georgie perfectly, and then we knew. We knew that we had a severely disabled child who probably had Angelman Syndrome. Not a speech delay and a bunch of unique George-isms, but very likely Angelman Syndrome.
We are so grateful for finding out, for knowing, and for coming across a wonderful community of parents of children with special needs. It is a community I never imagined, never thought we would be a part of, and yet they feel like family.
If we had not come across the article we would not have known.
Angelman Syndrome is a rare neuro-genetic disorder which is often misdiagnosed as autism or cerebral palsy, and in many cases it simply remains undiagnosed.
It is important, life-changing and quite possibly life-saving that children who have Angelman Syndrome are diagnosed, so please let me tell you a little bit about the symptoms of Angelman Syndrome.
People with Angelman Syndrome all are non-verbal and may not be able to say any words at all, though our big George does say bye-bye, yummy, thank you , oh no! and chocolate cake. (That is kind of all you need, right?) People with Angelman Syndrome do have non-verbal communication skills that go far beyond their verbal skills. When Georgie is hungry he will take your hand and walk you to the fridge. He will get a saucepan and spaghetti when he wants to make spaghetti, and he will get milk and sugar when he wants to bake a cake. George understands a lot, he shares his feelings through his actions, he has hobbies, friends, he laughs at funny stories and likes to play tricks on people. He loves to play with Lego and he really loves to bake.
One of the most obvious symptoms of Angelman Syndrome is that people who have it are always happy. They smile really big and fantastic smiles and laugh so, so much, all day long. Pretty much everything is really funny to our big George. I love that.
People with Angelman Syndrome may have frequent seizures. This is why it is important to diagnose Angelman Syndrome, the right medication and looking out for signs of seizures may save a life.
With Angelman Syndrome often comes excessive drooling and chewing of things, and suck or swallowing problems.
It may be impossible to breastfeed a child with Angelman Syndrome, and later on they may only eat soft foods such as mashed potato.
A wide mouth and widely spaced teeth are commonly associated with Angelman Syndrome, as is an increased sensitivity to heat and sunlight, a fascination with water and a lack of a need for sleep.
(You look sleepy, mousey!)
If you read this far, thank you. This is the part where I tell you how to help with even more than just spreading awareness.
Right now, George will forever remain severely disabled. He will need life-long care. Right now, our goal in life is to outlive our baby. Think about that for a second. (Though I do try not to.)
But there is hope.
Angelman Syndrome has been cured in mice. Scientists believe they can have a viable therapeutic within ten years, but the one thing standing in the way of that is money. Angelman Syndrome only affects 10,000 – 15,000 people, so there is not a lot of funding for the search for a therapeutic. Angelman Research need only about 15 to 20 million dollars to produce a treatment for Angelman Syndrome. That is not that much. Today I am asking you to please consider not having that fancy coffee, or maybe to walk instead of taking the bus, and donating the money to FAST – Foundation for Angelman Syndrome Therapeutics instead. (Here is the link directly to the donation page.)
You could help change so many lives, including our life, forever.