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.
Saturday, February 15, 2014
#cureangelman
Posted by The Brewers at 3:14 PM 2 comments
Thursday, January 9, 2014
My Sweet Ava
I have been writing more about Archer lately because of his monthly updates, and because most of my Ava posts I save for the Defying Disabilities monthly post that I write. But there are several things she has done the past several months that I want to remember.
She is really growing up and doing some fun things. I am always amazed at her! And honestly, I had an unpleasant encounter this week, and it made me realize just how sad some people are, and how privileged I am, to be her mom. And to understand the value of an individual who happens to have special needs.
Ava Moment 1: She was in her room, playing with her blinds. She KNOWS this is against the rules, and she knew she was doing something bad. I was busy at the moment, so I just yelled back to her, "Ava! Get out of your blinds!!!" A few seconds later, she slammed her bedroom door! And went right back to playing in the blinds!
Ava Moment 2: After breakfast, I sent her to her room while I followed after grabbing her clothes out of the laundry basket. When I got to her room, her closet was mostly closed but her little hand was holding the door. I said "Huh. I wonder where Ava went???" With that, she jumped out of her closet, laughed hysterically for a few seconds, then jumped back in!
Ava Moment 3: Tonight, I took the kids to see their grandpa who just had surgery. Cole was already there with his dad, and it isn't often that I attempt to load both kids at the same time. But it just worked out that way. She waited patiently by the garage door while I set the alarm, then she walked to her door all by herself and tried to open the door! I put her in but noticed that her shirt was wet. So I just sat her in her seat while I strapped her brother into his seat and grabbed a fresh shirt. I explained to her what I was doing, as I could see she was concerned that I wasn't going to buckle her in. But obviously, she wasn't happy with my decision because when I got back she had her seat belt straps over her shoulders!
Ava Moment 4: This is less a moment than a new skill. Since Thanksgiving, Ava has sat in a regular dining chair, without any adaptations! She is doing so well! And when finished, she gets up, goes into the living room, and closes the gate behind her!!!
Ava, mommy is so proud of you. And I am so encouraged reading about how close the researchers are to a cure. I cannot wait to hear your voice and have a conversation with you. That is my dream, my #1 on my bucket list. And I pray that it comes true, not just for me, but mostly for you!!!! I love you so very much. And I am blessed to call you my sweet daughter.
Posted by The Brewers at 9:24 PM 3 comments
Saturday, January 4, 2014
Archer is One Year Old!!!
Length
You are still TALL TALL TALL! You are almost as tall as your sister! It is so funny! You are about the height of a 15-18 month old I think. You are in the 95% for your age, and are often mistaken for being older.Clothes
You wear all 18-24 months clothing! I finally cleaned out your closet, and did a little shopping
for you. Hopefully we have what we need for winter! Nicknames
Arch, Bub, Bubs, Bubba, Brother, Chubs, Chunky Monkey, BuddaBall, Chubbers, Archie-Boy (I am the only one who is allowed to call him that...he will NOT be called "Archie" if I can help it!)Food
- Mama
- Dada
- Bye
- Hi
- Ava (he tries, but it comes out Awa)
- Uh oh
- Bite (comes out "bi bi")
Fun Stuff- some are the same from months 1-11!
-Mommy, Daddy, and Ava
Posted by The Brewers at 8:51 PM 0 comments
Tuesday, November 19, 2013
Archer is 11 Months!
Length
You are still TALL TALL TALL! You are almost as tall as your sister! It is so funny! You are about the height of a 15-18 month old I think.Clothes
You wear all 18-24 months clothing! I finally cleaned out your closet, and did a little shopping
for you. Hopefully we have what we need for winter! Nicknames
Arch, Bub, Bubs, Bubba, Brother, Chubs, Chunky Monkey, BuddaBall, Chubbers, Archie-Boy (I am the only one who is allowed to call him that...he will NOT be called "Archie" if I can help it!)Food
- Mama
- Dada
- Bye
- Hi
- Ava (he tries, but it comes out Awa)
- Uh oh
Fun Stuff- some are the same from months 1-10!
is in full swing now, too! Oh boy, that is fun! HA!-Mommy, Daddy, and Ava
Posted by The Brewers at 7:09 AM 0 comments
Tuesday, October 15, 2013
Archer is 10 Months!
I cannot believe Archer is 10 months old! Seems like yesterday that I was posting his first month update!
Length
You are still TALL TALL TALL! You are almost as tall as your sister! It is so funny! You have outgrown most of your "sit in" toys like your walker and jumper.Clothes
You wear all 12-18 month clothes now, and even some 18-24 month stuff! I finally cleaned out your closet, and did a little shopping for you. Hopefully we have what we need for winter!Nicknames
Arch, Bub, Bubs, Bubba, Brother, Chubs, Chunky Monkey, BuddaBall, Chubbers, Archie-Boy (I am the only one who is allowed to call him that...he will NOT be called "Archie" if I can help it!)I have heard several family members call him "Archie" lately...that must stop.
Food
Sleep
You pretty much go down at night without much fuss. You are taking two naps a day, and in general sleep really well. You very rarely get up at night. And honestly, it is about time! HA!
Fun Stuff- some are the same from months 1-9!
* You took THREE steps!!!!!!!! You love to cruise and push walker toys around. And of course you crawl EVERYWHERE!
* You learned to stand up without pulling up on something! You just did it one day, out of the blue! So fun!
* You are still not a big fan of the carseat, but you are much better.
* You have finally decided that you love bathtime! And even enjoy it with sister in there with you! So we are back to double bathtime, and it is so fun! Messy, but fun! She loves to shampoo your hair for you, and you are such a sweet brother and let her!
*You are fascinated with hairbrushes! You love to carry them with you and you even try to brush mine and sister's hair! It is so sweet!
* You still love to be naked! You just smile and smile when you are stripped down!
* You are pretty much only fussy when something is wrong or you are not getting your way, or you are tired. At least now we can identify WHY you are fussing. That makes things a lot better!
* You now have SEVEN teeth! You have more teeth at 9 months than your sister did at 12! You have at least one more on the way. And you also have learned to use them!!!
Archer- Happy 10 Months, sweet baby boy!!!! You are getting to be such a big, happy, fun, and outgoing boy! We love you so much and you have brought so much joy and happiness to our lives! We love you, and we thank the Lord each day for you! I pray that your daddy and I can honor God and raise you into the man He wants you to be!
~Mommy, Daddy, and Sister (Ava)
Posted by The Brewers at 11:09 AM 0 comments
Monday, September 23, 2013
Pinterest Hits the Brewer's Again!
I pin. A lot. A whole lot. But very few things I actually try. And these days, it is usually food. I have grand dreams of doing everything I pin, but alas, life usually gets in the way! But I happened upon a pin the other day that was just too perfect to pass up. And I am determined to do it. SOON. I haven't yet. But y'all hold me accountable. I will do this!
It involves this wall in my kitchen:
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| Please ignore the ugliness. If you can. It was taken prior to me getting my hands on it! |
Your eye is really drawn to that wall in the kitchen because of the layout of the home. And it always bothered me that it was so plain. But I didn't know what to do with it. I have some art hanging to the left , the fridge is now to the right, and my "Jesus and germs" sign is above the pantry door. So I felt like I needed something to add interest but not anything to make it cluttered.
Enter this lovely mess on Pinterest.
Stay tuned.....
Posted by The Brewers at 1:01 PM 2 comments
Monday, September 16, 2013
Archer is 9 Months!
Length
You are still TALL TALL TALL! You measured at 31" this morning, putting you in the 99% for length (again!). You are just a tall boy and have HUGE feet!!! Poor boy, everyone thinks that you are older than you really are! I think I will be the mom that carries a birth certificate around with me to prove your age to the opposing teams!Clothes
You wear all 9-12 month clothes now, and even some 18 month stuff! You are totally out of anything smaller than 9 months, but I still haven't cleaned out your closet. I am not ready for you to grow up! It is getting harder and harder to keep you in clothes! You have been wearing hats and sunglasses too, since we are spending more time outside (which you love!). Your socks are 12-18 month socks- you have HUGE feet! I bought you some footed PJs the other day, and got them in 18 months because I figured that they would fit when it was cold enough for them. We had a random cold night the other night, and you wore some to bed. They were a shade baggy on you but mostly fit, and especially fit in the feet! In fact, the feet were almost snug! HA!Nicknames
Arch, Bub, Bubs, Bubba, Brother, Chubs, Chunky Monkey, BuddaBall, Chubbers, Archie-Boy (I am the only one who is allowed to call him that...he will NOT be called "Archie" if I can help it!)I have heard several family members call him "Archie" lately...that must stop.
Food
Sleep
You pretty much go down at night without much fuss. But you still wake once in the night, more out of habit I think. We are going to work on breaking you of that habit, too. Mommy is ready to sleep through the night! But you are so much better than you were!
Fun Stuff- some are the same from months 1-8!
* You took THREE steps!!!!!!!! You love to cruise and push walker toys around. And of course you crawl EVERYWHERE!
* You are still not a big fan of the carseat, but you are much better.
* I think we have determined that you don't just all out HATE bathtime, you just hate it when you have to share a tub with Ava. So no more double bathtime for now.
* You still love to be naked! You just smile and smile when you are stripped down!
* You are pretty much only fussy when something is wrong or you are not getting your way, or you are tired. At least now we can identify WHY you are fussing. That makes things a lot better!
* You now have SEVEN teeth! You have more teeth at 9 months than your sister did at 12! You have at least one more on the way. And you also have learned to use them!!!
Archer- Happy 9 Months, sweet baby boy!!!! You are getting to be such a big, happy, fun, and outgoing boy! We love you so much and you have brought so much joy and happiness to our lives! We love you, and we thank the Lord each day for you! I pray that your daddy and I can honor God and raise you into the man He wants you to be!
~Mommy, Daddy, and Sister (Ava)
Posted by The Brewers at 1:23 PM 0 comments


