Who am I?

I am Amanda, a stay at home mother to two wonderful children, Fiona & Ferris. Fiona has Autism, possibly caused by a small genetic deletion at 22q13.1 (but not the region attributed to Phelan-McDermid Syndrome - although she presents similarly), but we cannot say for certain, as her particular deletion is undocumented. In other words, according to medical literature currently available, she is the only known person with a deletion in this exact region, and so it is of "unknown clinical significance" and we have no idea what her future holds. Currently she is almost completely non-verbal, her only real word with any real meaning being "boob" as she is breastfed. *gasp* Yes, you read correctly, my almost 3 year old daughter still nurses, and I'm proud of that fact. Ferris is a neurotypical little chubba bubba baby man. He gives me sanity, and hope, and comfort for the future. He is nearly 8 months old at the time of this writing, and he is my charming, adorable, little-big guy. He is also breastfed, and doesn't seem to mind sharing with Sissy, who is the neatest thing since pureed peaches in his eyes. Want to know more? Just ask!

Sunday, August 28, 2011

Blah, Blah, Blah, and Oh Yes! More Blah.

I know I haven't written anything here in ages.  Everything around me has been turning to shit lately, and I just haven't much to talk about.  I am still alive, just in a major funk.  I don't really have much to say I guess.  I thought I did, but really, I just, well, don't.  Everything is depressing me, and I'm not really sure how to fix any of it.

So I guess that's it.  First blog post in months and just another waste of space & time.  Sorry about that.

Thursday, June 2, 2011

Ramblings of an Insomniac

Before I get started, I'm going to have to ask you to forgive me tonight, as my thoughts are all over the place.  I feel compelled to write something, I am filled with emotion and thought and all with so much depth, but I cannot seem to formulate the words to express the things bouncing in my head right now.  I don't even know that that made any sense.  I'm really _____.  No words.  Go ahead, try.

So, totally random question, those of you with typical children, is it normal to get a case of Mine-itis at a very early age?  Like, I'm talking before even a year old.  Ferris has been so possessive of Eve-ry-thing since, oh, about 6 months, maybe even before, and it's just ridiculous. Everything is his.  If you take something from him, say the remote control for instance, he throws a fit, the likes of which you've never seen I'm sure.  I know all kids go through that phase, but I was under the impression that it started around 2 or so, not in infancy!  Am I alone here, or am I just wrong about when it begins?  I'm asking that honestly, because Ferris is my first typical child, and it's all totally new to me.  I'm so used to Fiona, and she has always marched to the beat of her own drum so to speak.  With Ferris being a typical child, it is almost like being a new Mom all over again.

Moving along...

We're finally getting our new dishwasher installed tomorrow.  The one that we have now is probably one of the earliest models out there, and it doesn't like me.  Mom has no problem using it, but when I turn it on, it gets stuck on the rinse cycle.  One night I started it up before bed, woke up and it was still going.  Initially I assumed someone else had done another load of dishes, but I couldn't see that anything new had been done.  I glanced at the dial, noted its position, and went about my morning, assuming someone had just restarted the same load, perhaps it didn't get properly clean.  A few hours later, I went to check on it, and it was still in the same position, still going, still rinsing.  The thing ran for around 14 hours at least.  I had to manually stop it.  Yes, the dishes were very clean.  Hah.  Anyway, we bought a fancy LG one, stainless, beautiful, awesome, and NEW.  Did I mention new?  I love new appliances.  Its like Christmas.  So they are coming to install that tomorrow.  They actually came last week, but turns out the old water line fitting was obsolete or something and old, like the other dishwasher, and we needed a different fitting, which the installers did not have, so we had to go buy one, and reschedule the install.  So now we have it, and they are coming tomorrow.  Yay!

Next on the chopping block...

We decided to go look at a house today, near here, thinking forward as we eventually want to buy our own place again after we've had time to accumulate some savings.  I saw this house a few days ago on my way home, and decided to take Nathan to look at it and see if it was worth calling about.  So we get there, and Ferris is in the car with us (Fiona stayed with her Grandma, she was having lunch when we left) so I had Nathan get out to look while I sat in the car, because he was asleep.  I figured if it was worth looking at, he could tell me, and I could get out and have a peek.  So he comes back after a few minutes, and starts telling me what it was like, and then says a big string of expletives and gets out of the car, brushing his pant legs off furiously with his hands.  Then tells me he is covered in fleas.  I guess the backyard was totally infested.  Awesome.  Right about then several fleas jump up onto me and start having lunch.  These guys were starved.  So I start picking them off of my arm and flicking them out the window, and then putting my arm down in the floorboard on his side to draw them out, and flick them off over and over until I'm satisfied they are no longer in the car, and Nathan continues to move around the driveway brushing off his clothes.  Finally he had to just strip down to his skippies (thankfully for him he wears boxers) and put his clothes into a bag (thankfully we hadn't cleaned the car out recently and had bags to use) and put in the back.  Then went to WalMart, got flea spray, and a change of clothes, and drove out to the lake and jumped in to get them all off.  He had thousands of them on him at one point (before stripping off his clothes).  Needless to say, but I will anyway for the sake of clarity, we are going to have to pass on that house.  Oh yeah.

Hmm, what else...

Fiona's Birthday party was a huge success.  We went to Chuck E. Cheese's and she had a great time.  Fantastic, even.  Not many people showed up, but it was Memorial Day weekend after all, so I can't be too upset or surprised that everyone had other plans or forgot.  We had a pretty good time either way.  Fiona tickled us all with her genius.  When the guy in the mouse suit came out, she knew he wasn't the same one behind the little curtain (the animatronic one), and she kept trying to open the curtain and prove that there were 2 Chuck-E-Cheeses.  We were all having a good laugh about that.  None of the other kids there even thought twice about it or made that connection, but Fiona was determined to find out how/why there were 2 of them.  She also surprised us when it was time for the cake.  They brought it out, and lit the candles, and then Nathan said "Let's blow out your candles" and started to lean forward to help her, and she just blew them out all on her own before he got the chance!  This is a first for her.  We have tried to get her to blow bubbles to no avail, and she has never done her cake candles at previous birthdays (granted this was only her 3rd one, but still), and then she just did it just like that.  I am so proud of her!  We also got a lot of really cute pictures (check my facebook to see them).  We want to go back again sometime just for the heck of it.  We ended up with a lot of extra tokens because we were expecting more kids, so we had tokens for more kids than actually came, and we weren't able to spend them all no matter how hard we tried in the time allotted for the party.  LOL.  So I just stuck them in her gift bag and figured we'd go back another time and use them up then.

In other news...

My 5th wedding anniversary is coming up in a few days.  Monday in fact.  Cool huh.  This makes 11 years of actually being a couple too.  That's a long damned time, right?  Doesn't seem that long though, so I guess we're having fun. <3  Hopefully we can afford to go out and do something nice & fun.  It will have to be Tuesday though.  Nathan works on Monday.  I'm hoping we can manage to go out for Sushi. I've been craving it like mad.  Maybe we can even go catch a movie or something too.  We haven't done that in a while.  We've actually only been to one movie since Fiona was born, and that was before I was even pregnant with Ferris, so it has certainly been a long while.  Would be nice to get out and do something fun for a change.  Oh, and I want a damned pedicure.  I've been putting it off for 2 months now because money has been tight, but I want my feet done!!!  ARRGGGHHH

What else...

Ferris is starting to crawl finally.  He is such a big boy, it's taken him some time to get himself pushed up.  It's still mostly army crawling, but he occasionally gets his bum up in the air and gets some momentum.  It's really cute.  He weighs 23 pounds at 10 months old.  I'm tired and having a hard time remembering his last length measurement a couple weeks ago, but I think it was 28 or 29 inches long.  I'm not looking at his chart though so I could be wrong.  I remember the weight though was for sure 23 pounds.  Such a big boy! <3

Well, I think I've typed enough for one post, and my eyes are getting heavy so maybe I can actually SLEEP.

Good night.  Well, its nearly 5 a.m. so I guess I should say good morning, but I'm going to sleep.  Night night.


Saturday, May 28, 2011

Dear Fiona,

Three years ago today, you came into my life, and made me a Mother.  Before then, I didn't really know what it was to be a Mommy,  but you taught me that life lesson.  You have taught me many things in your lifetime.  You started teaching me the very moment you were born.  The very first thing you taught me was what love truly was.  We all think we know what love is, but really we don't until the day we become someone's Mommy.  No one knows a Mother's love unless they are one.  You made me a Mother, and you taught me what love was.

You've also taught me a thing or two about patience.  I was never a patient person really, until you came along.  It is amazing how different I am today when compared to just three short years ago.  It seems like just yesterday you came into my life, yet it feels like you've just always been here too.  That goes back to knowing what love is, a part of it.  Time flies, but when you really love someone, you feel like you've carried them in your heart since the moment you were born yourself.

When you were born, Fiona, I had so many dreams for you.  Over time, those dreams have changed and transformed, but make no mistake I still have so many dreams for you, those dreams are just different now. I will never underestimate you, I will always be your advocate, and I will always encourage you to achieve all that you can and more.  You are someone very special, and you are meant for greatness.  You will show the world what you are capable of, and I will cheer you on every step of the way.

We've had some bumps in our road together, but we are learning how to get past them every day.  We are moving mountains, princess, and we will keep traveling this path full speed ahead.

Fiona, I want you to have a super happy Birthday, full of fun and love, and I hope you know today how special you are, and how special you are every day too.  This is your day, sweet girl, your day.

I love you.  You have made me a better person, just by being here.  I will always be there for you, I will always pick you up when you fall, I will always put your happiness before my own.

Happy Birthday, Princess.

Saturday, May 21, 2011


There is a little known condition called Adenylosuccinate Lyase (ADSL/ASL) Deficiency, otherwise known as Succinylpurinemic Autism. It is caused by a mutation on the ADSL gene, which is located on the 22 chromosome, specifically at 22q13.1. If you've been paying attention, you might recall that Fiona's genetic deletion is at 22q13.1, and involves 4 genes. One of those genes is ADSL. Basically she is missing that gene, or a part of it, I'm not sure exactly how extensive the deletion to that gene is, I just know that she has a deletion involving four genes at 22q13.1 and one of them is ADSL.

Considering her symptoms, and the existence of this super rare disorder known as Succinylpurinemic Autism, her having Autism, and having a deletion on the gene linked to this disorder, her geneticist wanted to test for it. We did a urine sample, which took forever to get, but we finally got it, and they ran the test. The thing they are looking for in the urine has a cutoff number of 15, so basically any level below 15 is considered to be in the normal range. Anything over is grounds for further testing for this disorder. Fiona's came back at 16.5.

So what does this mean? It means we need to do further testing, but there is a good chance that she has this. So far there are 60 known/diagnosed cases of this worldwide, though they suspect there may be more that have gone undiagnosed. Fiona might make that 61 if the further testing confirms the diagnosis. The next test usually involves a lumbar puncture to check the levels in the CSF, and if that were to come back positive, a DNA test would then be done to confirm. We are going to opt to skip the lumbar puncture and just do the DNA test. It's way less invasive. Obviously.

Prognosis usually isn't super for those with this condition, with many of them actually dying in the first year of life, mostly related to seizures, which is a common symptom of this condition. Fiona has never had a seizure, and I hope she never does. This is a good sign, as most that develop seizures do so early on, but there are known cases where they had late onset seizures as well. It will always be something I will have to watch for and worry about.

Not everyone knows this, but my brother was epileptic. I know firsthand how scary it is to see someone you love go through a seizure. I wouldn't wish it on anyone. Knowing that there will always be a chance that my daughter might go through that is heartbreaking. This also brings up another thought. My brother's seizure disorder was of unknown origin, and late onset. He had his first seizure at the age of 12. He had very mild mental retardation, and mild autistic traits. He spoke, though he did have a few speech impediments, but he was verbal. Did he have a mild form of this disorder too? It is autosomal recessive, inherited, which if I understand correctly means both parents would need be a carrier? I could have that wrong, I'm not an expert by any means. But I gather from my reading that it is inherited, so chances are there could be others in the family (on both sides potentially) with this disorder or chance of it, if that is in fact what Fiona has, which of course we have not yet confirmed.

So much to process. And it is so frustrating when the few answers you get just raise more questions than anything.

Edit: A very wise person pointed out to me that there very well may be many people (as the medical journals suggest) who have this condition but are undiagnosed, or just have an ASD label. And if that is the case, and they only test when it is suspected due to unexplained MR & seizure disorders (or in Fiona's case a deletion on the gene that causes it), there very well MAY be many people out there with milder forms of this that aren't trapped under such a poor prognosis. This gives me so much hope - because had we not had the genetic microarray done - we would not have done the other test and would have no clue, as she does not have MR or seizures. Thanks again, Gill. You gave me hope when I needed it most. <3

Thursday, May 12, 2011

Thoughts on the Future

Something has been bothering me lately, a fear I guess you could say. I'm afraid of becoming afraid of my daughter. Not that she is vicious or evil or anything of that sort, quite the contrary actually, she is sweet as pie, and delightful to be around. That is, except when she is upset. We still have this total lack of communication, as she is still for the most part, aside from a few select words, non-verbal. She gets frustrated when she wants something, and cannot tell us what she wants, and sometimes we can't figure it out, and that makes her more frustrated, and then the tantrums begin.

Now, I know every child has their moments, and all go through a tantrum phase, but if you've not seen a full on Autistic toddler tantrum, you cannot possibly imagine what I'm even talking about. I mention this because every time I talk about it to anyone I feel like eyes are rolling at me on the inside, like, oh please, all kids throw tantrums, or I get the "I know what you mean, my kid throws tantrums all the time", but see I've seen other peoples' kids throw tantrums, and trust me when I say, unless you have or have been around a child with Autism, you have No.Idea.

Up until now her tantrums have been manageable I guess you could say. We do on occasion (okay daily) get kicked, slapped, or scratched. And you'd be surprised how strong this child is. Now she doesn't mean to be bad, she doesn't understand, she just cannot communicate, and it pisses her off, and she lashes out when we offer the wrong solution to her mystery problem. While it is an inconvenience now, it is, as I said, manageable. But for how long?

She is already incredibly strong. And growing like a weed. And she clearly has her father's tall gene. Those who know me know I'm a fair bit on the vertically challenged side. She will be bigger than me one day. What happens then? Is she going to throw these tantrums forever? Will there come a time when I am afraid of my own child? I know that I will never give up on her, I will always be there for her, no matter what, but please don't let it be so difficult forever. Someone please tell me it gets better with age and not worse...

This is just a thought that has been plaguing me lately. What am I going to do? I am her mother, and I will always take care of her, but what happens when I can't? Anyone with experience, with older children, please shine some light my way, share some wisdom, tell me what my future might hold?


Thursday, April 28, 2011

Note to Self:

Dear Self,
Please don't forget to take your Zoloft for three days. You should really know better after the first time it happened during the blizzard. It's not fun. It makes you feel super dizzy, light headed, faint, and don't forget the lip tingling. Remember how it scares you that you might just pass out? Kind of like the feeling of not having eaten for a good long while? Please don't put yourself through that again, it sucks. It also makes you an emotional wreck and impossible to be around. It makes people hate you and not want to be in the same room with you. You become a complete and total whiny bitch and prefer to sit around and cry over everything. So let's just skip this next time, okay? Missing one day, fine, even two, not so big a deal, but three? Let's.Just.Don't.


PS - I'm really sorry for being such a craptastic person yesterday. I suck.

Wednesday, April 27, 2011

Holy Hell

I haven't posted recently, and I apologize for that. I've been doing this whole moving thing, and let me tell you, it is so much fun. Not.

I cannot tell if I'm coming or going or which end is up or down. I haven't slept much in the last 2 weeks and I've had very little time for my online stuff, which sucks because that is my me time, browsing facebook and my various forums and looking up hot coupon deals. Blah. I haven't even done any shopping in like 2 weeks I think. Crazy, right? This is me we're talking about... haha.

I'm almost done though, and hopefully will have my online time back soon. I need it. I miss everyone terribly and I'm so far behind I have no clue what everyone is doing and how everyone is, and I really need to catch up.

Just wanted to post this real quick like so everyone knows I am alive and well, well the well part is debatable LMAO but I'm alive and will be well when I'm done with all this crap.

Then I can write up an update on how things are in more detail.

Okay, time to go. Hopefully to sleep, but knowing me, probably back to work around the house getting things in order.


Saturday, April 2, 2011

Moving: Too Much Fun

Sorry I've been slacking off a bit on the blog posts. We are in the middle of moving, and it's at that critical point of "Oh crap, we're moving in 2 weeks and we've only packed 10 boxes," and we're in overdrive right now. Which doesn't leave much time for posting blogs.

Yesterday I spent all day doing laundry, whether it needed done or not, so I could pack all of our clothing, bedding, and towels freshly laundered, and packed everything we don't need in the next 2 weeks. I had Nathan go through his things, and I picked out 7 outfits for myself and for each of the kids, and we will just wash as needed, and packed the rest. Well, most of the rest. I still have more that needs laundering & packing.

It's hard getting anything done in a timely manner with two children who are very needy lately. Who am I kidding? They are always needy. Hah. They tend to not like me to get anything done, so I have to work in small spurts while they are entertaining themselves, which doesn't happen often or for very long when it does.

Today I want to work on the kitchen a bit, but I also want to finish all the laundry packing too. I want to get all the towels sorted and just keep a few out and pack the rest. I want to do the same with pots and pans, keep 2-3 things out and pack the rest, but I think we decided we were going to get a Rubbermaid or Sterlite bin for dishes/pans/etc and we haven't picked that up yet so...

Well, there was my free time for the afternoon. Ferris is fussing, and Fiona is awake. So... thanks for checking in with me. =)

Wednesday, March 30, 2011

The Great Debate

Brace yourselves, this might get messy!

I need a new phone. I'm on Sprint, and under contract, but have no desire to switch carriers - I'm very satisfied with Sprint. I'm currently using an HTC Hero with Google, and it's about a year old, and giving me trouble lately. Seems pretty much par for the course for me. One year in, phone needs replaced.

So anyway, I'm wanting something different and fancier. Nathan got a new phone recently too, and I really like it. It's a HTC EVO Shift. It's pretty sweet. He wanted it because it has the slideout keyboard, but I could go either way on that feature. I'm used to my touchscreen keyboard so it's a nonissue for me. I've played around with his phone, and it's very snappy and it has a lighted camera too, which is awesome.

As much as I like his phone though, I think I might enjoy the HTC EVO 4G better (both are 4g just to clarify, but I'm not in a 4g city so moot point). I like that it has a bigger screen, and front facing camera. I've not actually played with one though so I don't know how great it actually is. I've read some reviews, and most people seem to love it, with the main complaint being that it is TOO big, but I think the size is nice. I did see one on display at a store, but it was a dummy model so I couldn't actually play with it, but the size felt great.

So I'm torn. I can't decide which phone I want. So I'm asking here if anyone has either of these, could you write me a comment with pros & cons and help me make a decision? I'm planning on buying 4-1 or 4-2.

- Posted from iPad so forgive any auto-incorrects.

Tuesday, March 29, 2011

Busy, Busy

Tuesdays area always a busy day for us. We have Fiona's weekly therapy session every Tuesday. She looks forward to it so much every week - absolutely LOVES going. She did really well today.

They let her color a picture with a marker, a picture of a little duck, and she did really well with it. They helped her at first, guided her hand to show her how to fill in the picture, and then she finished it on her own. She did pretty well staying in the lines, though she escaped them in a few places, but for her first time actually coloring something in - she did REALLY good. I'm so proud of her.

Her speech therapist played tea party with her, and for the first time ever (and I've tried so many times) she actually mimicked the imaginative play of pouring the teapot into the teacup, and pretending to drink from one. She never does that. Never never ever. I was so happy to see this!

In PT, she did great too. She got to play in the ball pit again, and she also got to swing. She really loves the swing they have there. I need to see about getting her one like that for home. It really seems to calm her and help her focus. They worked with her on kicking a ball, which she is still not quite sure why she should when she can pick it up and throw it, but we're working on it.

Overall, she had a really good day. She threw a bit of a tantrum in OT, but when they got out the water art set she was happy happy. =) <3