Saturday, February 15, 2014


I have a four year old and fourteen month old post to write, but today I want to write about something of greater importance. Angelman Syndrome. Our (now) four year old Ava has AS, a rare neurogenetic disorder caused by a deletion or mutation of the ube3a gene on the 15th maternal chromosome.

Got that??? I didn't either at first. I still don't fully understand. Many physicians don't fully understand genetics. But the bottom line is a profound disability. I have been asked- mostly by people who have never met Ava in person- why a cure is so important? Don't we want to keep her the way God made her? Why would we want to change her? And it occurs to me that, if people ask and wonder those things, I am perhaps putting too happy a face on AS. So today I am going to be a little more real about Ava.

There are what some people call blessings in AS. I like to refer to them as mercies. Yes, Ava is happy. She has a beautiful smile and intoxicating laugh. She loves people- all people- and has never met a stranger. She teaches the world about love and acceptance and God's grace. But all of those mercies hide a dark and harsh reality.

Ava is nonverbal. Really nonverbal. As in unable to communicate. No sentences. No words. Just squeals and sounds. Take a moment to imagine your mind working fully but not being able to communicate in ANY WAY. How frustrating and sad and difficult that would be- for both you and those who care for you.

Ava has physical disabilities. Both gross and fine motor delays that are on the moderate to severe spectrum. She has a hard time walking, although we are thankful she is able to walk! She has an ataxic and jerky gate that results in many trips and stumbles. She is unable to walk long distances and will require a wheelchair in the future for certain outings and places. She cannot do most of the fine motor tasks that a child at the age of 18 months is able to do. Her brother is rapidly eclipsing her abilities- something that both breaks and swells my heart. She cannot point, she has difficulty with the "pincher" grasp. She cannot pick up small objects and even when she is able to pick up objects, she is unable to be precise about placing them where she would like them. She has a difficult time feeding herself. Although, like walking, we are so thankful she can feed herself as this is something not all "angels" can do. She has severe motor planning issues and getting her body to do what her mind intends is a major challenge for her.

Ava has difficulties eating and with oral motor planning. She has improved a great deal in this area, but still struggles swallowing liquids. She only recently started drinking from a straw cup, but still needs a sippy type cup, as her motor planning issues cause her to have a difficult time knowing how much pressure to put on things like a Styrofoam cup.

Ava has seizures. Complex Epilepsy to be specific. If you have ever been witness to an epileptic seizure, you know how very scary it is. When it is your child, it is truly terrifying. She is on two seizure medications to control these episodes, and thankfully they do a good job. But we still see "breakthrough seizures" when she is sick or during certain tasks, like bathing, eating, and waking up. Mostly these are myoclonic seizures. If she is going to have seizures, we want them to be myoclonics. Many other types of seizures could easily land us in the ER and many angels have passed away due to uncontrollable seizures. Just one of the ways this awful disorder can claim a life.

Ava has chronic ear infections. AS is known to cause a weakened pulmonary system. Ava doesn't seem to struggle with things like pneumonia like other angels do (Praise the Lord!), but she is chronically congested. This plus any cold she gets leads to a lot of fluid buildup and then ear infections. Because she cannot blow her noise (back to the inability to motor plan) every cold she gets turns into either ear or sinus infections. These lead to fever which leads to seizures. Everything is cyclical with Ava.

Ava has behavioral issues that are difficult to understand or address. Currently, she is in a "hair pulling" stage. Sometimes she remembers to and is able to be gentle, but most of the time she pulls! And it hurts! She also LOVES water, an especially concerning behavior because she also doesn't care to listen often. She tends to wonder and we have been working on her stopping when we ask her to stop. But she has a mind of her own and will go head first into any situation regardless of the danger- a large body of water, a busy street, a mound of fire ants, a vicious dog...the dangers are overwhelming to me.

She has severe sensory needs. She needs a lot of input from the world around her, and the result is mouthing of objects (so choking is a constant threat), head swinging, hanging upside down, spinning. Any and all activities that allow her to have sensory input, regardless of the dangers they may pose to her.

Cognition. Probably the hardest for me to talk about. Not only because it is emotional difficult, but because we simply do not know. Without the ability to communicate either verbally or by using alternative communication, we simply do not know what the cognitive delay is for Ava. IF there is one. It was first thought that angels were severely cognitively delayed. But as communication efforts have increased through things like communication apps, devices, and systems like PECS and PODD, we are learning that at least some angels are extremely bright. In fact, most of what I know about Ava has come from other angels, older than her, who are able to effectively communicate. They have taught us so much about the challenges and sadness of AS. I don't know what is going on in my daughter's head. She shows us her sass and personality on a daily basis, exhibits her intelligence and problem solving skills all the time. But I don't know what her favorite color is. I don't know if she likes her new shirt or if her shoes hurt her feet. I don't know if she hates what I feed her or if she would rather have chicken than turkey. I just don't know, and she cannot tell me. We are working on communication for Ava, but for now, her world is one of silence and mine is one of guesswork and hope.

Ava has eight prescription medications and three over the counter medications that she takes daily, most 2 times per day. And that is when she is totally "healthy."

So that is a snapshot of Ava. A snapshot of our lives. So I ask you... if this were your child, your life, would YOU want a cure?! Of course you would. So I ask you all to do me a favor. Today is International Angelman Syndrome Day. And I ask that you please post about Ava and Angelman Syndrome on your social media sites using the hashtag #cureangelman. We are desperately close to an effective treatment- basically a cure- that all that is standing in our way is funding. Please help us raise awareness and funds for our children. Help give Ava a voice.

Thank you.