Friday, October 31, 2008

Couple videos

I just uploaded some videos and wanted to share.

The first is what dad does when I am gone. He is always looking for a short cut in everything and that even meant giving Lily her drink...

The second is really dark and I apologize, the only digital recorder I have is my sony cybershot camera so if the room is poorly lit, well so is the video. But you can see Lily clearly and this is her working with her PT. I wish you could see that she is sitting all by herself on our "coffee table". It takes her quite some time to do it but she does pass the ball back to Andi. You can tell she is trying very hard to get her hands to cooperate with the rest of her body.

Wednesday, October 29, 2008

Small update

My almost 18 year old niece still goes to see the Pediatrician when she is sick and it turns out, yes we go to the same place my sister has taken her kids for years. We have the same Ped.
My sister called and said she is taking my niece and do I have any questions that I want her to ask him. I said "yes please, ask him a time frame for the test please." So she did and he said it should take a week. I am hesitant to believe that. Tests never take a week, especially tests like this, but we'll see. She also said that I am concerned because I am pregnant and he said I don't think she needs to worry about that. Now I am not sure why he said that, but it was a little comforting to hear. So now on to waiting.
In regards to Lily. I understand completely that even if we get a name, or whatever, her care doesn't change. I get that. We still treat the seizures. We still do everything we have been doing from the beginning, but a name, a name changes everything! I was reading back Lily's site and I read that was the exact reason why Neuro refused that test, that a name wouldn't change anything. A name changes everything. A name takes the world that was resting on my shoulders and it is lifted. Yes Lily is still Lily, but there is a reason Lily is Lily. And I don't have to guess why. What's in a name they ask? Well in a name is relief. Comfort. Answers. A name isn't just a name Romeo, a name is huge. This changes everything.
I do not know if this gene mutation will be added to the Atypical Rett syndrome like the recently found mutation in CDKL5, that is all beyond me. I do know that on our lab papers sent out it says retest CDKL5 which is under the Atypical Rett's/Infantile Spasms column. But I know that is not what they are testing. They don't have a name yet for what they are testing.
This is all way over my pretty little head.
Our blood is in Chicago and that is where we stand as of now.
Thanks for all your comments here and facebook :) We appreciate all the prayers you all can muster!
Much love!

Tuesday, October 28, 2008

You better grab something to drink....

Wow! I got a life changing phone call yesterday.
Let me start from the top.
About 2 ½ years ago I found out about a test that tests the gene CDKL5 which if that has a mutation it is linked to atypical Rett’s syndrome. We have thought Lily has atypical Rett’s for a long time now. Mother of Rett’s girls think Lily has Rett’s. This mutation is linked with not only atypical Rett’s, but also infantile spasms and an early onset of seizures. Ding ding right? Plus looking at the characteristics of this mutation you’d say that is Lily. I was super excited when I found the information on this and called Lily’s neuro asking him to run this test. I am sure this is on Lily’s site, but I have no time to look for it. Well he basically said we aren’t looking for a diagnosis right now, we are trying to control seizures and we’ll look back into it later. I smiled and said ok, fine. I made an appointment with Lily’s personal, totally interested in my children, Pediatrician and showed him what I found and asked, ok maybe a little begging, if he would rx the script for this test and he said “sure.” Well after two months I was called with the report that there was no mutation on the CDKL5 and again we were at another dead end.
I hadn’t thought anything about this until I got an email asking if Lily had been tested for this just two weeks ago and that had me looking into her records and I found that test that said negative. I still thought though that Lily seems to have this disorder and I called the geneticist that we hadn’t seen in years to have her take another look at Lily and maybe run that test again, we can’t get in until Dec.16th. Then Friday of last week after work I got home and saw a message and it is from the girl’s pediatrician. He says he wants to talk to us about Lil and of course it is 5:30pm when I get that message. I had to sit on needles until 9am Monday to call and see what the heck he wanted. Lily hasn’t been in to see him in quite some time and I just couldn’t imagine what he wanted. So I call at 9am and 9:15am my phone rings. Wow this must be important! Dr. says remember when we ran that test two years ago checking CDKL5? I said “of course” he says “well the University of Chicago re-ran a test on Lily (with that old sample) and it came up positive, not for CDKL5, but for some unknown gene that has yet to be named.” I was in shock. A positive test result? A POSITIVE test result????? “So if it wasn’t positive for the CDKL5, what was it positive for? I don’t get it” and he explained to me that there isn’t a name yet, it is all very new and he described it to me in very simple language. He said imagine they were looking on Val Vista and Lindsey (two parallel road here in town) and they didn’t find anything, then later they went looking and found it on Gilbert rd (another parallel road next to the others in town). I’m still confused, but a positive result means a million things to me. It has been 6 years and 1 month we have been looking for answers, 6 years and 1 month of blood work, 3 spinal taps, 2 muscle biopsies, 1 skin biopsy, 3 different neuros, geneticists, developmental specialists, metabolic specialist and what?! A test I insisted on having ran by Lily’s regular Pediatrician is what is finally leading us to an answer?! Holy freaking crap! I can’t count the nights that I thought, was it Lily’s childbirth experience? Did I take too hot of baths while pregnant? Did I take antibiotics during a bad time? Was it my thyroid meds that caused this? I have thought of everything that I could have done to cause this to her and now I found out, it wasn’t anything I did. Can you imagine the relief that comes with that? I can’t explain it.
Granted they haven’t even named the gene yet, and Lily just so happens to be the first test to test positive, but we are on our way. We will know what this is and we will know fairly soon. We may have to be the pilgrims of this whole thing and that is ok. We can handle it!
But this isn’t without stress and well stress. Pediatrician told me on the phone that our next plan of action is to send them Lily’s blood again, they want to test DNA and RNA on her and they want to check Andrew and myself. Hence where the stress comes in, they want to see if Lily didn’t get this mutation from us. This stems off the X chromosome (?) (I am in way over my head here with all this, I barely could figure out what eye color our imaginary child would have in science with my blue eyed partner, by the way I am blue eyed as well) and so we need to see if first this is from us and if it isn’t from us then I guess they will see how this mutation came of in Lily. I think most of you are following me here. I am 6 months pregnant. I have to sit and wait to see if Andrew and I have any deformities that can cause this to happen to our children. We have been told by specialist by specialist the thought of something as rare as Lily happening again is next to none. And even though I have asked about genetic counseling time and time again we have been told with out Lily having a diagnosis they’d be going in blindly and have no idea what to test for. Fast forward. 6 years later. My blood and Andrew’s blood is on a first class flight to Chicago and we have to sit on nails while we wait for the results. I don’t even know how long tests like this should take. 2 weeks? 4? I know it took 2 months to hear back from the negative results we got 2 years ago. I don’t have 2 months. Well I do, but my heart doesn’t. And if Andrew and I do have some whatever I obviously know if doesn’t mean it will happen again for sure to our baby boy since Andi is as healthy as a horse, but then again if we do what are the odds of two healthy if we have something funky? Sigh.
The best case scenario is we have no mutations and it is all Lily, but then I feel bad that Lily has to be alone in this. I don’t want to wish that upon her, but I just don’t know how I would handle another seizing baby. Seriously.
I do know that God has his hands ALL over this. It is really hard to not believe in such a thing. I mean this is just all falling into place so amazingly. I just have to pray that the best outcome will happen and I ask the same from all of you. Lily is our special girl and we adore our special little one in a billion child, we just want her to be our only special blessing.
I may be a little consumed with this until we get an answer so who knows what I will write about in the meantime.
Prayers please! All the time! Thanks!

Friday, October 24, 2008


So Lily Bug is still having some drops and that cluster of myoclonic jerks. She only has that cluster once to twice a day and she smiles afterwards and they don't make her sleepy so I won't be too concerned, but I still don't like them. I don't like the drops either. I really thought she would have had them better under control with Clobazam. But the grand mals are still MIA and thank God for that. Although this isn't the best seizure control, it is good and maybe the best we will ever get so we'll just take it and try to relax.
Isn't it odd how you pray for one thing to happen and it does and then you want more. I guess we are all greedy in some ways. Please tell me I am not the only one. I just want my daughter to live a day seizure free. I feel like we are close and to be so close yet so far, it is a bit frustrating.
On a positive note, Lily had a cold that started about two weeks ago and I can say that her nose is not running anymore. For those of us who are close to Lily knows that when a cold comes on we are prepared for at least a month of nose wiping and the cold came and went this time. That is amazing for her and saves so many tears. Two things Lily can see coming a mile away, a brush and a tissue. She is not a fan of either!
We've got a busy weekend ahead of us, two birthday parties on Sat, the State Fair on Sunday and a birthday party for Grandpa Ted, Aunt Jenn, Uncle Bryan and cousin Cody all on Sunday night. October is a very busy month for our family. It is more expensive than Christmas!

Monday, October 20, 2008


I know it is wrong to play favorites, but I have one. My favorite blog on this planet is from this sweet young woman who is going to make some kids the luckiest on this planet because she is their pediatrician. 6yearmed. Or some really lucky parents to get to have their most precious charms being looked after by some one like her. I linked to this recent post she made that I can't manage to read and re read without just loosing it. Please read the link before continuing.

I don't know if is it the way she describes mom's tired eyes. Because so many of us know those tired eyes. The eyes that spent way too many days looking at monitors. Looking at their child in a hospital gown. Spend too many hours looking at the clock. Eyes that cried more tears than they ever felt humanly possible. Eyes that were beyond a shadow of a doubt, exhausted.
Or is it the way she describes the way that the mom smelt her daughter head, her sweet, sweet bald head and maybe was remembering that smell she was born with. I know there is nothing like the smell of your child's head when they are freshly brand new in your arms. But when you are a mom you can't help but love to smell those heads years later, fresh out of a bath, or fresh with sweat after playing all day in the sun. Smelling and kissing heads is something us parents do over and over again and when I read that part I just have so much hurt. So much compassion for this mom kissing this sweet bald head.
Having a special needs child puts you in a different world. A different place to parent from. You see things from a different perspective and it seems like with a lot more compassion. Yet I still don't know what it is like to have a terminally ill child. To have a child that once was healthy and then became sick. Lily came as is. In my dreams before she was born she was something she is not, but she came here showed me all that she was about in less than a month and said take me or leave me. And I was on board. She is and will always be my angel girl and maybe down the road her condition may change, she may not be as healthy as she is today, but right now Lily is healthy. She is happy and she is my girl. I can't imagine her not being healthy. Not knowing if she will survive the night. Those are fears that overwhelm me and are incomprehensible so when I read that post about that mom and daughter. A mother daughter relationship that I know so well with a "neuro typical" daughter and my "special" one, to see it so open. So tender and so frightening. It just captures the entire "me" and I am sure the entire "yous".
Thanks Danielle for bringing such a tender heart to such an amazing profession.

And I know my web would read: BLESSED

Friday, October 17, 2008


I made plans with a dear group of friends that I get to see only a few times a year now. Our special kiddos all went to the best preschool on earth together and we used to have weekly meetings where we'd talk, laugh and cry together. It is a very special thing in your life when you can find others who can relate to you on issues that no one else can. I mean I have great friends whom I love, but most of them can't comprehend changing their 6 year olds diaper. Or having to spoon feed their every meal. Or manage seizures. This group can. Included is the kiddos teacher and therapist whom know our kids and worked with our kids and love our kids. We used to meet weekly when our kids were in prek, but now we have all moved on to the scary world of public elementary and have all gone into different districts our meetings have gone away.
So every 6 months or so we try to get together for something called game night. One mom always hosts in her gorgeous home and we stay up late, we laugh and play games. It is the most fun I have ever had sober. Not the most, but it really is good clean fun that is just can't be beat. Anyway, we have had tomorrow night planned for several weeks now so when Andrew says I'd really like to go to Greer this weekend, I said "hold up!" I said "you will not go unless you have child care planned for me". I am not missing game night and I am not going to scramble to find a sitter to come to our house because he got a bug up his butt. Well guess what! My mom said "well how about I go up too and Andrew brings the girls". I said "really??" Holy crap! What ever will I do? No husband, no kids for 2 days? Sign me up! So that is what is happening. Let me just add, Andrew normally is fully capable of taking the kids himself, but he is going up to help my dad work on the house and this isn't hanging up pictures housework, this is laying flooring, putting wood on the ceilings, painting, hard house work. So my mom is going to help with the kids and Andrew will help my dad. It really is an awesome thing to be happening..... to me! And of course the kids, they love it up there. I do too and want to go, but game night is happening and I AM GOING!

Wednesday, October 15, 2008


So it wasn't the Keppra stopping the weird jerky myoclonic cluster so we're taking her off of that. I am not sure what should be upped to stop them and for now I am not worrying. They don't bug her and last a total of maybe 10 seconds. I am not ready to up her meds more since she is technically on 4 right now. Keppra will be weaned in a few days. But still 3 is too much.
I have to be honest and feel bad for saying this but I was so ready to put Lily back on that school bus this morning! I think she had the same sentiments. It was a long 2.5 weeks! We never got to do much fun stuff while she was off since the weather hasn't cooled down much except this past weekend. Yesterday just the girls and I went to the Phoenix Zoo and that was a lot of fun. The weather was perfect and the girls were happy and on their best behavior. I was so grateful since I saw so many kids not on their best behavior and I had to thank the kids a million times for being so good.
Andi pulled the worst tantrum on me Sunday afternoon and I was at a loss of what to do. I ended up throwing away every toy she had in my car. It was drastic but worked. That really sucked though. She went wild on me. Hitting, kicking, etc. It was really sucky. I seriously hope that is not going to happen often or at all ever again... sigh.
Can I time warp this baby into staying a baby forever?????

Wednesday, October 8, 2008

Bye Bye Bye

So Monday was our last appointment. Sigh. It was a long one. Thank God my mom went to hang out with us. It was a long one. I first spent 2 hours getting pee from Lily Sunday night. 2 hours! I was an hour late to a family dinner at my sisters waiting for that child to pee. I have tried those things you stick on her, but every time I try she manages to pee everywhere but in the bag, the only sure way to get a sample is to sit her on the potty. I loaded her up on drinks, but since she only likes to pee in fresh diapers it was a long 2 hours.
But we got it. Andi slept over at my sisters Sunday night so that was nice not having to bring her along because I am not kidding we were there from 9am to noon. We sat with the nurse for 30 minutes, then saw the neuro for 15 minutes. He was funny. He just says what he thinks. Anyway, he wrote scripts for Clobazm (sp?) and Vigabitrine and our favorite pharmacy in Canada is able and willing to fill them both so that is the easiest route for us to go. The Keppra wean didn't go as planned. Apparently Keppra was preventing these myoclonic cluster creepy seizure so she is back up on that. On Topamax and Vigabitrine then we are supposed to add Clobazm, but neuro doesn't want her on that many just as I don't and we will go from there to see which one to wean. Sucks. I didn't realize Keppra was really helping. At least it is the one with the least side effects. I'd like to get her off Topamax if at all possible. It has been so long, I am not sure all it does. When we tried to wean it last time it wasn't an awesome thing, but that is because she was a mess anyway off Vigabitrine. So we should try again. I am just thinking out loud. For those of you with kids minus seizures I am sure none of this makes sense, but for those of you who do deal with those nasty monsters I am sure you understand the constant clutter in the brain of the best option, stop seizures but don't totally fog the brain. I hate seizures.
So anyway, after visiting RN and DR we had to go to the hospital for an EKG. We had to wait for what seemed forever to register her, then up to wait for the test. Then the test, then down to labs to give them the golden pee and to have her stuck twice for blood. Then I hugged the sweet RN goodbye, whom I got to know real well these past months, and we said SEE YA!
We went to visit my aunt who had neck surgery as well after all that, then to eat in the crowded cafeteria. Oh and I thought it was just on Grey's Anatomy that you see people on the elevator. Nope not the case. Lily's neuro got on the elevator with us and took it down. It was weird since we weren't in his office. Lily made herself known by happy screaming and we all laughed at her. Gotta love Lily knowing how to save an awkward situation.
That child loves to scream. She was happy screaming from 6am to 7am this morning. I was not ready to get up so we just let her yell and let us know she was up. She never cried, it was just hey I'm up, get me out. She is so silly.
Everyone who sees her lately says this "Wow! I never see her so alert and active!" Yeah, that is what not seizing all day does to her.
Otherwise on the home front, Lily doesn't go back to school until next Wed. Fall break is long! She is home with her nurse today and Friday. Thursday we will take Andi to gymnastics and that is the highlight of Andi's week. Plus her awesome gymnast cousin Skylar is out this week too and will go watch her tomorrow. Andi is so stoked! She loves her cousins!
My pregnancy is going well. I am really showing now! 22 weeks and counting. I can't imagine how big I will be in 18 more weeks. Andi says "you're as big as Jody so it is time to have the baby" my cousin Jody had her baby in July and I kept telling Andi I have to be as big as Jody before I have the baby and she thinks I am already there. Silly girl! Maybe I am as big as she was in July.. sigh.
Heartburn really kicked in last night for the first time. I had it much earlier with the girls and had hoped I was immune with this boy, but no such luck. Woke me right up and I had to take a zantac and sit upright for almost an hour last night before I could go back to sleep. Sigh. I hate heartburn! And neither of my girls had hair so that old wives tail sucks. I guess my Mexican food obsession will have to subside if I want to sleep these next 18 weeks.
Andi is good and as silly as always. Rarely naps and is always full of energy. She is so funny and keeps us all entertained daily.
So that was a long huge update. At least it is a good one!
If you are in need of a tax write off think about supporting our Zoo Walk for Autism Research I have a Paypal button at the top of the page. It is a fabulous cause and a day at the zoo with my girls supporting such a close to home cause really sounds like a great day to me.

Friday, October 3, 2008

My girl

My girl is still doing great! We have to go in on Monday for a "final" appointment for the study. :)
It is a long one though, EKG, Blood work and I have to bring in a dang urine sample. Don't get me started on those. Looks like we'll be on the potty for an hour Sunday night waiting for Lily to tinkle. Oh well. I am giving them the meds and in return I get an rx for the same med that we will now have to pay for. That is still if I decide to fill it. We are weaning Keppra and should be off by next week. (this is supervised by neuro) and she is still on Topamax but that may be the next to get the axe. We'll see. I think Vigabitrine works on it's own and if we do decide to fill the Clobazam then we will certainly give Topamax the axe. No mas three drugs for my girl.
I love her bright eyes we are seeing again. I love her smiles and filling her tummy with her favorite treats. She melts my heart.
Home to see her right now. Happy weekend.

Wednesday, October 1, 2008

First do no harm

So Lily is on modified year round school schedule. That means for every nine weeks they have 2 weeks off. Only two weeks is more like two and a half weeks plus two half days. Which in more clearer terms, really hard for someone who tries to work a few days a week. Since I am still living in a home with no computer plugged into the wall, long story and I am sure it will be a long time before that changes, I can only update when I am at work and until she is back in school I can only work two days a week, that is all the nursing hours I am allowed (15 a week), so updates will be less frequent for some time. How was that for a run on sentence? Grade away teachers!
So here is the update. Lily is doing absolutely fabulous! Hip Hip Hooray! She started a small dose of Vigabitrine/Sabril on Thursday night. Not much change on Friday. Then Sat. she had one seizure in the AM and I decided to bump up her dose to 250 mg 3x a day instead of 2x a day and Saturday afternoon she had a drop that just a day ago would have turned into a full blown GM seizure, but praise God it just stopped at the drop. I think her and I were both shocked and since we were at a party and not going to make a scene I whispered in my girls ear, "it's over baby girl. They are gone". I just knew it. I knew it 10 months ago. I knew it. I knew we should have never made that change. Now I can sit and kick myself in the butt over and over again, or I can say we tried something. We listened to the Dr. for the last time and we know, I knew this but now I KNOW that mom's gut trumps everything else. Trumps dad's gut (sorry hunny, I still love you) it for sure trumps Dr.'s ideas. Not that I will not listen, I will listen. I will take when I hear into consideration, but in the end the choice will be mine and it will be made after soul searching.
I was put on this earth to raise this child and I will not do that job poorly. Just because someone went to school for what 8 years plus all those years in training, that will never compare to being a child's mom who lives with that child on a daily basis. Again I am not discounting our Neuro. We still love him and will continue to see him. But no more will I jump aboard his crazy ideas. That study was only beneficial to one side and they can guinea pig on whomever they want, it just will never be my child again. I wish I had laid down the law months ago, I wish I wasn't so easily talked out of my gut opinion, but this was a learning experience and that is what life is made of. Rarely do you learn anything from pleasantries. We learn from hard. We learn from scary. We learn from frustration. I have learned a huge lesson. We will move forward. I have a call in about weaning Keppra since Lily was having up to 4 GM's a day during her wean from the study drug so we know that drug does nada for her. Since I haven't had a call back yet, I am doing it on my own. I still would like to get the study drug in a small dose to help with her drops, it is as easy as writing us a rx and sending it to a pharmacy in Canada, just like Vigabitrine. Something he could have done oh let's say 10 months ago, but really wanted a guinea pig instead... hummm don't doctors vow some little phrase?? What is it? Oh yeah "First do no harm." But anyway I haven't decided either way yet. Lily's posture is better off the drug. Lily's appetite is hugely back to normal. I can't find my little camera with the video recorder on it, but Lily is so funny right now. I was giving her those little Dryer Dibbs (yummy!) and I just held it in front of her mouth but not close enough to just put it in. She opens up and leans, I pull back and she leans forward more until she snatches it out of my hand. So there, vision problem? Not when there is ice cream involved. I will try to find that camera, but it may be a lost cause. I am afraid little sister has something to do with it.
So that is our update. I will be back on Friday to post again before I go on another hiatus.
Thanks for your prayers and concerns.

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