Big Day

Today was a big day in the world of Angelman Syndrome families and a big day for science! Today, it was announced that the clinical trial of the common antibiotic, Minocycline, as a therapeutic treatment for Angelman Syndrome will soon begin! You can read all about it here.

This man....

 Dr. Edwin Weeber, has been working with the Foundation for Angelman Syndrome Therapeutics to cure Angelman Syndrome. And he has in mice!!!! Now the clinical trials for HUMANS is about to start.

Most of you probably cannot imagine the joy, excitement, nervousness, happiness, and just gratefulness that the parents of AS individuals are feeling tonight. Many of us have cried together over long facebook conversations about the possibilities of what this could mean. I remain cautious. Guarded. But still overwhelmingly filled with hope.

So I ask two things of you....

First, please, please PRAY!!!!! Pray that this works. Pray for Dr. Weeber and his team. Pray for FAST and ASF. Pray for the Angels that are in the first round of the trial, for their safety. Pray for those parents like me that want so badly for this to work and to be a part of the next trial. And most of all, pray for all of our Angels that NEED this to happen.

And secondly, please go watch the Hope for a Cure video about it on the FAST Website. It is on the home page, first video. Watch Finn and Sophie's stories. Hear what Dr. Weeber has to say. Educate yourself. This would be a HUGE breakthrough for medical science!!!! A CURE for a GENETIC DISORDER! If this works, the possibility to cure everything genetic is that much closer! History is being made, and it is being made with Angels and Dr. Weeber leading the way.

Oh I could just kiss that man!!!! (Shhhh, don't tell Cole I said that! HAHA!)

Angel Words: Volume 2

This post will be short and sweet. :) Mostly because my poor angel has Hand, Foot, & Mouth virus, and it has spread to everywhere on her body! So we are back to the doctor again today!

Poor sick angel...

Today's word about Angelman Syndrome is ACCEPTANCE. I cannot tell you how many nights, last night included, that I have laid in bed and thought about what my life is now. What the life of my daughter will always be. And how that one little gene missing on that one little chromosome has turned our whole world upside down! But if that is all I thought about, I couldn't move on, couldn't live, couldn't enjoy my daughter for the blessing and the amazing person that she is!

Acceptance of something like this is hard. Harder than anything I could have imagined. And I still struggle with it. I think because somewhere in me, when I think about accepting Ava's condition, I think that it means that I am giving up. Not hoping and praying for a change, a miracle, or a cure. But I know logically that isn't the case at all. We can accept a reality in front of us but still have hope that it isn't a permanent reality. And the truth is, AS will very likely be cured or at least great therapeutic drugs that suppress the condition will be discovered in Ava's lifetime. I pray that that also happens within Cole and I's lifetime. Because we would love nothing more than to hear Ava's sweet little voice talk to us. But we also know that if that doesn't happen on Earth, that our permanent reality of Heaven will not include Angelman Syndrome!

So I choose to accept my daughter's condition, but not resign to it.

I need to get my day going (we had a rough night and Ava and daddy are still snoozing away) but I wanted to leave you with some sweet pictures that I took- and mind you this child was running 102.5 fever at the time. Not much can slow an angel down!!!

Dropped her paci...because she was being naughty!

She loves to get into her changing table goodies!

And next weekend is Ava's birthday party! Don't worry, I have a professional photographer coming to take the pictures, but here is a sneak peek. It is taking over my dining room!!!! Ahhhh!!!!!

Angel Siblings...

***PLEASE NOTE: WE ARE NOT PREGNANT!***

I think the only thing being more special than being an Angel parent is perhaps being an Angel sibling. I have a close network of online "angel parent" friends, and many of them have several children. And I just love when they share things that their typical children have done, said, or written about their angel brother or sister! One of my favorites was an older angel playing with her younger typical brother. And the mom overheard the typical brother say something to the effect of "I know you have that 'angel' thing, but that doesn't mean that you can pull my hair!" I just rolled!

I have asked my fellow angel parents several times about what it is like to have an older angel child and younger typical children. And the response I get is always the same. They all say that it is the best thing that they ever did for their entire family, and that their children are all so wonderful and precious.

I know that having another child or two will be hard. Harder than usual because of the challenges we face and will face with Ava. But Cole and I both are committed to having more children (although we somewhat disagree on how many more to have) and knowing that Ava's AS is a random event gives us the "green light" to have more children. We have our genetics appointment this week, and I think after that appointment we will really be able to seriously evaluate when, how many, etc.

The idea of having more children both excites and scares me. There is an article going around the facebook world about how having one child is so hard, but that having more children gets easier. I pray that holds true for me. Because having Ava is hard. And sometimes, mostly in the hardest times, I question my sanity in wanting more children. But at the end of the day, I know it is what I want, and what my heart needs to help heal from the pain and mourning that we continue to experience in the wake of Ava's diagnosis.

If I am being perfectly honest, I must admit that I am somewhat fearful of typical children. This sounds strange, probably. But an Angel is all I know. And looking back, knowing that all of the smiles and happy-go-lucky nature was mostly the AS, I worry about what our future (and Lord willing typical) children will be like. I know that I will love our next child/children as much as I love our Ava. But a small part of me is also fearful that I won't care about them as much. I know this really won't be true. But I just cannot fathom loving or caring for anyone as much as I do Ava. I was snuggling on the couch with her last night before bed, and I just prayed that the Lord would allow me to love our other children and dote on them and nurture them as much as I do Ava. I think this fear is a result of how much I know Ava needs me and relies on me- even more than typical children.

I love our future children- or at least the idea of them- so much already. And as we begin to explore the idea of adding to our family, I pray that the Lord gives us the wisdom and courage to do His will.

Angel Words: Volume 1

When you read about Angelman Syndrome, you read words like "intellectual disability", "seizures", "nonverbal." But reading about AS doesn't really give you the full and complete picture of Angels. Does my child have an intellectual disability? Maybe, we don't really know yet. Does she have seizures? Not yet, but she probably will. Is she nonverbal? So far, yes. But we have hope!

Reading those words, you might not understand what Ava is like. How she communicates (because she does- much clearer than many of the three year olds I have worked with in the past!), what she is able to do. Many bloggers do a "Wordless Wednesdays" every week, but I have decided to do "Word Wednesdays", and each week I am going to (at least try) to pick one word that describes AS, my Angel, or our lives dealing with Angelman Syndrome. This weeks word is...

ABLE.

Able. Ava is ABLE. There are so many websites that talk about what individuals with Angelman are not able to do, that I find it important to point out what Ava is IS able to do! Because she can do so many wonderful, special, magnificent, and amazing things, in spite of her diagnosis. And those are accomplishments to be celebrated. Because the things she is able to do take her 10 times longer and she works 10 times harder for them than a typical child, and they are major milestones that many individuals with AS may never achieve, and she has done so by the age of two!!!

Ava is ABLE to:

• Sit up unassisted, and has done so since she was 10 months old!
• Feed herself, something some AS individuals never accomplish! She has been doing this since about 10 months old as well.
• Crawl. She has been crawling in some form since about 8 months, and now crawls almost as fast as I can run!
• Pull up on things! This started around 12 months and hasn't stopped since!
• Cruise around furniture! She started this about 14 months and now will let go for a few seconds at a time.
• Plays games like peek-a-boo and hide & seek (with objects)!
• Gives kisses- something she has done since she was about 4 months old, well before most of her typical peers!
• Turns pages in a book- if she is in the mood!
• Climbs on the furniture- not my favorite achievement, admittedly. But one none the less!
• Can take steps with minimal assistance and has even stood for a few seconds and taken one independent step!!!

My sweet Ava, mommy and daddy love you more than words can express, and we are so very proud of you for all of the things you have accomplished in your less than two years on this Earth! And we know that you will break the mold for Angelman Syndrome and do things that blow everyone away!

A Mother's Patience

pa·tience

  (noun)

the quality of being patient, as the bearing of provocation, annoyance, misfortune, or pain, without complaint, loss of temper, irritation, or the like.

(source)

I think all mothers have their own idea about what patience is. For some, it may be putting up with their son's terrible twos. And threes. And fours. Others find patience in the child that refuses to eat their food. Or use the potty. Or go to bed. But special needs mothers (or maybe just me, I don't know) know and live with a different kind of patience. The kind that is more raw, more organic, if you will. Because our patience is not for actions done, but for actions longed for. I long to hear my two year old say a word. ANY word. I long to see her take her first steps. I long for her to eat without throwing up. I have always thought of myself as a patient person (Cole is laughing at this. But when it comes to children, I really have always been patient!). When I was teaching preschool, I always tried to be slow to anger, quick to listen, loving always, and remember that they are, after all, just three year olds! Which was hard sometimes when there were 30 of them! But I learned so much from "my babies" about being a mommy- more than I ever realized at the time. Being patient when it comes to behaviour is one thing, a thing that *all* parents deal with and at times, struggle with. But patience in relation to your child's development and health is another thing entirely, I am learning.
My Angel Mommy Patience Lessons....

* Remembering that when someone says that "all two year olds do that." or "that medical procedure is no big deal.", they are just trying to be supportive and helpful and they really just don't get it at all.

* Knowing that the constant hair pulling and biting are signs of affection. (I think all Angel parents can agree 100% on this one!)

* Cleaning up vomit/spit up, for the 100th time that day, and reminding myself that it will eventually end. I pray. Can I get an AMEN!

* Remembering that people do not understand just how significant Angelman Syndrome is, nor can they understand the impact this has had and will have on our life.

* Not getting angry when people ask intrusive or hurtful questions, because they just want to understand.

* Keeping in mind that people who can't see how wonderful and glorious and amazing my daughter is are not intentionally ignorant. They have just never been taught otherwise.

* Reminding myself that doctors cannot go on the word of the mother alone. Even though I *told* her last week that Ava was getting an ear infection! Achem! Sorry. :)

* Remembering that Ava isn't the only patient needing to be seen at various clinics, and that is why we have to wait months. And months. And months.

*Understanding that someones child having something small wrong with them (in comparison to AS) doesn't mean that that parent is any less upset or worried about their child than I am about Ava.
 As another special needs mom- and fellow blogger- once told me: the worse thing that ever happens to a person's child is the worst thing that ever happens to them. Truer words have never been blogged, I think.

I try very, very hard to be patient with everyone. Because I understand that everyone is dealing with something in their lives, and not everyone is as open or vocal about their struggles as I am. I am and always have been an open person, and I find that talking about Ava and Angelman Syndrome is a great coping method for me. People always remark about how well I am doing, how I am handling everything in stride. And for the most part, that is true. But I am still extremely hurt. And beyond sad and angry. I still weep at times. I still ache for my sweet Angel's life and the struggles she will face. Oh how I wish I could carry those burdens for her. I still cry out to God and question His decision to not heal our daughter. And you want to know a secret? I am okay with feeling all of those things. Some people might think that I am turning from God because I say that. But on the contrary, I feel closer to the Lord than I ever have in my life. Because I rely on Him so much more to get through the day. God is BIG. Big enough that I can lay all of my feelings and emotions at His feet. Come to him broken and beaten, weary of this thing that I never wanted in my daughter's life. In my life. And he can take me and breathe new life into me, and give me what I need to make it through the day. And He does! And for that, I am so thankful.

And I am beyond thankful for this sweet Angel! 

My Favorite Room

I just love our new home. Have I mentioned that lately? Because I do. And I feel so very blessed and honored to live here, and I thank the Lord each day for a beautiful roof over our heads. I walk into each room at least once a day and just enjoy all.the.space. Our last home (which was our first) was a beautiful home-when we got done with it anyway- but it was just very dark, and because of that seemed much smaller than it really was. Although it was not huge- just over 1500sqft. Our new home is about 2400sqft, with an extra bedroom, an extra dining area, and a much larger, well, everything! Plus we have a very nice two level deck for entertaining, whereas our last home had a very small deck with about 25 stairs leading straight down to a dirty and steep yard. So just having an outdoor space to enjoy has really helped too!

Now all that said, there is one room in this home that I am in LOVE with. And it really wasn't even on my wish list when we were looking at houses. Honestly, I never considered it all that important just because we didn't have one in our last house and we got on just fine without it! But now that we have this room, I am just in awe of how much we use it and wonder how we ever got by without one! That's right, folks! I am talking about our

PANTRY

In all honesty, when we looked at this house, I thought "oh cool! A pantry." and moved on. But from the moment we started moving all of our stuff in, I realized that this mystical room called a pantry would rapidly become one of the most used rooms in our house. And thus, one of the most cluttered. So I made it my goal, nay, my mission, to make sure that our pantry stay organized and remain the useful room that it was intended to be.

I do have dreams of making it a beautiful space. Pinterest has really spurred that desire along. But if you read this post, you know that the pantry is notably absent from my list of rooms to tackle this year. Hey, I have to have something to do in 2013!!! And besides, I need to have some time to either save up for all the wire baskets I will need, or wait for them to come down in price. (SHAZAM! Have you seen how much places like Tar-jay are charging for old looking wire and chicken wire baskets?!?! I.DON'T.THINK.SO!!!! And I am a basket freak!!!)

So while I do dream of pantries like this one (although I really doubt it looks like this all the time!):

Source



And this one (with it's gorgeous dark shelving and wire baskets, oh be still my heart!):

Source

 With fun features like this:

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 And a beautiful stenciled background wall like this one:

Source

 I am left to deal with this. This is my pantry, when it was empty.

And here is how it looked earlier today. Pretty bad, huh? I hadn't taken the time to reorganize in a few weeks, and it was starting to show! 

Here is the other side, to the left when you walk in (I am standing in the doorway). The can goods still look decent. Hey, that something!!! 

And here it is after I did a little reorganizing and cleaning. Much better!!! 

This is what you see when you walk in.

Bad picture I know. But this is one reason why I love my pantry: See the appliances down on the bottom shelf and my mixer on the floor??? Those LIVE there! So they are not on my counters or taking up cabinet space!!! Yes, I do love this room!!!



I will probably be working on a design plan for this space sometime soon. And who knows, I might just decide I need to add it into my 2012 goals. You just never know! ;) Thanks for stopping by!!!



A Few Goals

I wrote about my New Years Resolutions in this post. Although I don't really have any typical New Years Resolutions, I do have a few goals I would like to accomplish this year, most all of which have to do with our house. So I thought I would share a few of those today...

1. Redo the Laundry Room. Here is the laundry room before we bought the place:

As you can see, it also has a little desk area, which currently houses our computer and office. It functions okay, and honestly, we are probably not in the point in life where we could do a huge makeover and move the office somewhere else. SO the office will stay. But I really want to do something fun to this room. Take down the wallpaper, put up bead board, maybe paint some of the cabinets, replace the counter top. I doubt Cole will let me retile the floor (honestly he is probably stroking out just reading what I have in mind already!). I just really want to make this space a pretty place to sit and blog or facebook or load/unload laundry.

2. Add some more trim to the dining room and foyer. Here was the dining room and foyer when we moved in:

(Sorry, this was the best picture I took I guess)

And here is how it looked a few months ago:

Sorry I can't show you what it looks like today- Ava's birthday party planning has exploded all over that room. BUT I can tell you what I have already done: new entry table (this one), new rug, new curtains (which happened because of the new rug), and this new light fixture.

I really want to add a nice thick chair rail, and also add a small shoe moulding about 4 inches under the crown moulding, then paint it all the same trim color. These ceilings are really high, and that will give the appearance of a thicker crown without the expense or trouble of actually doing all new crown moulding. I also want to add some picture frame mouldings under the new chair rail and paint it all the trim color to give it the appearance of wainscoting. And we might have to repaint in here- not sure? When I was telling Cole about my ideas, and I asked him what he thought, his reply was "what does it matter? You have already decided to do it anyway." Smart, smart man. I am thinking about replacing the foyer light to match the dining room light, too. It would be this one. Shhh, don't tell Cole.

3. Ava's big girl room. Probably my most important project. And the one that will require the most help and money. Of course, we will need new bedding and a fresh coat of paint. Still thinking on that. But the big parts are an enclosed, full sized bed and a ball pit. A fellow Angel family graciously shared their drawings and instructions for an enclosed bed, and I have my daddy studying it and have made a few requests on the design. It will be painted white, and we are going to either use the white wicker furniture we have in the guest room or get her some used furniture and paint it white as well. Haven't decided yet.

She also needs a ball pit. And I don't think there is room in the therapy room. And yes, it is a NEED!!! The girl is totally relaxed and chill in the ball pit at therapy, and we need that at home!!!! It needs to be big enough that I can get in with her, and the blowup ones are no good because they pop when an Angel bites them. Trust me on that one. So I think we are going to build it out of plywood boards covered in batting and fabric that matches her new bedding. I have the perfect place for it to go, too!!!!

4. I really need to rearrange the therapy room. This will cost zero money, but since Cole still refuses to get rid of his weight bench (even though he now has a gym membership!) I need to clean out the garage so I can put that darn weight bench in there, so we can have some more space in the therapy room.

This isn't exactly a project, but in our last house, Cole bought me roll out shelves for our pots and pans for Mother's Day. And I think that might be a good gift for me again this year. Achem. Cole.

I will keep you updated and take pictures as things get done. And they might not all get done this year!!! But Ava's room is a top priority and I am already thinking and making plans. :) Can't wait!!! It isn't going to be the "big girl" room I envisioned when I was pregnant (yes, I have been planning that long) but it is going to be adorable and fun and a great place for my Angel to rest and play and be her own space!!!!