Calm Amongst the Chaos

Mama of 5 seeking calm in the chaos

Almost sounds like a Christmas letter

Kim Nothdurft

3 comments

May 19, 2009

Wow! May 19th? Seriously? Lily has one more “full” week of school, “full” because Monday is Memorial Day, but she has that week and half of the next. She gets out June 3rd. I can’t believe another school year has been completed. I would be excited about summer school, except well the school says Lily doesn’t qualify for an ESY (extended school year) meaning they won’t pay for her summer school AND I have yet to hear back from DDD (dept for developmental disabilities) for their approval. We have never in all Lily’s years not had her qualify for summer school and have DDD pay, but since the President took away our Governor that actually cared about education and special needs, well now we’re lucky to get them to pay for therapy, whom all had to take pay cuts by the way, let alone any extras. Sigh. I will continue to call and bug them. I’m sure she will still get to go, but this is annoying.
June 4th we’re headed to Colorado for our niece’s baptism, she is 11 days Oliver’s senior. I’m looking forward to weekend in a Colorado summer, we’re already above 100 and we aren’t even in June yet. Andi’s been swimming every day already and has gotten the nickname “Bahama Mama” she has great coloring and has a nice tan, we’ll see how she looks in August, lol.
Oliver is doing great! So crazy strong! He’s almost rolling back to tummy. On his tummy he gets all over the floor, he rolls tummy to back, but gets pissed when he’s on his back. He’s a feisty one! I wouldn’t say he’s as feisty as Andi, I would consider him more “chill” until he’s pissed then his temper blows. I’m sure my family thinks he is always crying, but honestly he is great at home, he just isn’t one for social gatherings, but the child will have to deal considering he has a huge family no matter what side of the family we’re talking about!
We’re going to try to wean Lily off Topamax these next two weeks. I spoke with her neuro and he says he trusts me and if I want to do it than that is fine with him. She can’t sweat on Topamax and it is so hot. She was crying on the horse on Monday at 8am b/c it was already over 90 degrees and she was burning up. We decided to changed to 6am on Monday’s, yikes (!), for this summer to help with the heat. We really can’t do much with her in the summer besides swimming due to that side effect and I’m ready to see it go. I do pray she does well with the wean and appreciate any one else’s prayers as well! Please!
I’m really getting a hang of this stay at home mom thing, it took awhile, but now I can’t imagine working and not being with my kids! I decided to not put Andi in prek next school year. She already knows what she needs to start kindergarten and I want this last year home with me. She is going to be in school full time starting next year so I’d like to have this last one to be fun for her.
Andi moved up in gymnastics to a 5-6 yr old class, she just turned 4! Her coach, Amanda Borden from the 96 Olympics (ahem) said her listening skills and gymnastic skills are ready to move up. I’m excited for Andi. Now knowing gymnastics don’t usually involve 6 footers, I’m not planning on the Olympics for her, but she will have all the skills she needs from gymnastics to do any sport she wants. J Plus it is good socialization for her if we aren’t doing pre k. She is also going to do a swimming class in July, I want her to learn the actual strokes, I think she could be a great swimmer!
So that is our update. Andrew asked yesterday why I don’t update and I told him well if I am not holding Oliver I am cleaning, or taking Andi swimming, or taking a shower, blogging is low on the totem pole and then he says “you have time for facebook” *gasp* how dare he? I then explained I can do facebook while holding Oliver, that only requires reading and one sentence responses. He has no idea! Facebook is my social, yet not really social considering it is all online and not really in the “real” world, network 😉

Lily Bug

Kim Nothdurft

3 comments

May 4, 2009

I just wanted to give a quick Lily update since she is the reason for this site. Hence the name. 🙂
Lily is doing pretty good. She is back to having her 4 o’clock meltdowns that we haven’t seen for a few months. It is like a cycle, she gets upset and has more myoclonic jerks and the jerks make her mad. It is the chicken or the egg thing since we aren’t sure if the jerks make her mad to start with or if her being mad brings them on. Anyhow it is hard for everyone. Yesterday I just took her outside to swing and put her feet in the pool and waalllaaaa she was happy. No jerks, not sad.
I guess she needs to be stimulated at 3:50pm and we make her forget that she gets mad at 4pm. We had to up her clobazam to keep the atonics and myoclonics away. I have been lowering her Vigabitrine as well, there is such a fine line we have to walk with her in controlling the grand mals and jerks/drops. I really want to wean her off Topamax, but not ready yet. Maybe we can wait for the summer. I don’t like to mess with stuff too much when she is in school. I like to monitor her myself with big changes. She’s been on Topamax since she was 18 mo old! Yikes.
She will only have 3 weeks of summer school this year so we will have a lot of time together this summer.
Andrew thinks I am crazy to volunteer for VBS this year, he said he thought I would take the break from the kids, but the church really needs helpers so me and Oliver are going. Plus I want to be there since I am putting Lily in it this year. Last year she was in summer school. I am ok with her going to children’s church for an hour on Sunday’s but this is a whole different story 5 days a week, 3 hours a day. But I do think it is good for her and fun for her. The kids are great with her.
Lily did great today in hippotherapy. She rode Candy forwards and backwards. No pads. She smiled and clapped and talked the whole time. She continued with OT and Speech and did well also. Then I took her to school. Monday’s are crazy.
Now I am taking Andi outside to swim. It is for sure May.

Choose your battles

Kim Nothdurft

no comments

April 29, 2009

Andrew and Andi used to fight all the time about what she was wearing. He’d say “want to go to the store with me” of couse she’d say yes, that child will not can not miss an opportunity to get something, anything, please, please, please. So he’d say, ok change your clothes and she’d run into her room and come out in a princess dress, “glass slippers” and tons of beads and sunglasses. Andrew says “no you are not wearing that” then the fighting, screaming and crying starts and that is just Andrew. Finally he’d storm out and she’d be crying wearing a t-shirt and shorts. I took daddy aside one day and said “why can’t she just wear what she picks out?” He says a few things that all make sense, but not enough for all that drama. I challenge him to just let her decide and see how their relationship changes and boy has it ever. It really was the only thing they faught about. But I guess I should have maybe gave him some guidelines because I watched him and her go to the store the other day. Andi was wearing a swimsuit and sparkly shoes. Nothing else. She looked like Miss America. Going to Fry’s. I’m pretty sure I would have at least thrown on a princess dress over that.

Validation part duex

Kim Nothdurft

1 comment

April 22, 2009

I had to take Reading up until the 8th grade. Not because I couldn’t read, it was because my comprehension of what I was reading was less than to be desired.
I have been going over and over this paper, trying to understand it and the more I read it the more sense it makes. Well as much as a gal who completed HS and one year of community college can grasp 😉
My friend asked if the dr was going to download the report on my ipod. Now that is someone who knows me. I don’t read. I listen. So sue me.

This is my comprehension of why this deletion affects Lily so much.

“A deletion involving regulatory sequence of the CDKL5 gene is likely to affect the amount of mRNA produced and in turn the amount of CDKL5 protein”

So our CDKL5 gene provides a protein and your brain requires this protein to be at full function.

“RNA analysis was performed to determine the amount of CDKL5 mRNA produced in thie patient and was found to be decreased by 50%. This deletion therefore appears to result in the decreased expression of the CDKL5 gene in this patient.”

So that makes sense. Not that I entirely understand the CDKL5 gene, but knowing that she is missing one little thing in it and that makes the gene work half ass and causes so. many. issues.
It sounds like we just need to find the ingredients of this protein, throw it in a shake and wala.

Ahhh why can’t it be that easy.

It does put a fire under your butt though. I mean I cared when I got the verbal dx over the phone, but didn’t understand any of this. Now that I am reading and reading and reading this I see that my daughter is missing something so tiny in her system yet she appears to have been affected more severely than a child who has had half their brain removed. It makes no sense to me and I am really fired up about this. There has to be something that would make this work correctly. I hope/wish/pray it is something we can find enough funding for so it can be done.

I just had to post again on this issue. I had no idea what I was reading yesterday and posted obviously with no knowledge. Now it is 6am and I am feeling a little more knowledgeable about this. And annoyed with this as well.

Validation

Kim Nothdurft

4 comments

April 21, 2009

A week shy of 6 months, finally I hold in my hands the diagnosis report from the U of Chicago Genetic Services Laboratory.
Here is her result: Deletion involving exon 1 in the CDKL5 gene.
So my gut was right from the start. I KNEW my daughter had a variant of Rett Syndrome. It is a hard pill to swallow when it is a more severe version of an already devastating disease, but it is SO nice to have a name. I know we got the name in October, but I needed to SEE in paper what it is. Not hear about it over the phone.
Andrew and I were negative, meaning “this mutation is therefore a de novo event in this patient. In addition, over 100 normal control samples were also analyzed for the CDKL5 exon 1 deletion and not found to be present, indicating this deletion to less likely be a polymorphism (benign alteration). This deletion is the likely cause of this patients disease phenotype.”
Wouldn’t a party with a room full of geneticists be a hoot?!
Wow. So weird to come to an end with this. Humm what’s next?
I guess the only thing left, to do something to find a cure and stop this from ruining future lives!

Long awaited

Kim Nothdurft

no comments

April 16, 2009

Baby is asleep, got Lily on the bus, Andi is eating oatmeal watching Sprout, I think I have time to update. Long overdue.

We got a call early Good Friday morning that Andrew’s dear Aunt Carol had passed away. Carol was an amazing woman. Carol and her family came to our wedding in Mexico almost 8 years ago. We watched her para sail. Carol sent everyone a hand made card for every holiday, not just birthdays and anniversaries but I mean Easter, Thanksgiving, Halloween, etc. She made our girls beautiful quilts Christmas 2007 and was just one of the most selfless people we have ever met. We got a call a few weeks ago that she wasn’t given much more time so Andrew flew out to see her and she was up and aware and spoke with Andrew and he is so happy that he was able to have that time with her.

After the call we had some decisions to make and plans to make. We decided cost wise just Andrew and I would go, of course Oliver would go with us. My mom looked after the girls for us. We had to make the trip a quick one and boy did we ever. Too quick.

We flew out at 8:45am and after a layover in Denver we landed in Sioux Falls, SD at 4pm. Got a rental car and drove straight to the funeral home where the viewing was. I was surprised at how this cancer took over such a once vibrant woman. It had been too long since I had seen Carol and it broke my heart to see the devastation this cancer can cause. Oliver must have had gas or something because he was inconsolable pretty much the entire time we were at the funeral home. I nursed him several times, burped him, Andrew had him in the bjorn, I held him while he slept but that was all too short. The place was packed which is such a great testimony to the woman we were honoring. We didn’t get out until around 9pm, got a bite to eat with Andrew’s brothers and families (sad that it had to be a funeral, but it was nice to all get together) and we went back to Andrew’s oldest brothers home. Our sweet 6 year old nephew was kind enough to loan us his bed! They had a pack and play and I laid Oliver in it and that kid was out until 6am the next day. It was 4am out time, but I was thankful for that block of almost 8 hours of sleep!

We had some running to do in the morning, my flower fell off my shoes I was borrowing from my mom and it looked pretty silly with one shoe with a flower and one without, so we had to run to town for some shoes for me. We packed very minimally so an extra pair of shoes was not in my plans. Back to the house, then over to Carol’s home, her husband and son had food at their place, we stayed there until time for the service. Andrew’s uncle is such a great guy and it is so heartbreaking to see how broken his heart is. You just want to do something to help the hurt and there is nothing you can do. Death is just so hard to comprehend when it isn’t someone who had lived their life as long as they should have.

I am pretty sure God had a hand in the fact Oliver fell asleep in the car and stayed asleep through the entire service. So did his cousin Jayda, only 11 days older than Oliver, so we were able to enjoy the service. Well enjoy isn’t the right word. We were able to listen and pay our respects from the pew, not bouncing around in the back with a fussy baby. After the funeral we got to talk to people we hadn’t seen in years. It was nice catching up with my in laws, so many of them! Not just Andrew’s immediate family but cousins, aunts, uncles, grandma’s, etc. I am pretty lucky to have married into such an amazing family, and one about as big a mine, that isn’t easy! 🙂 I hate to say it was a good time, but it sure was nice to see everyone. There were 4 babies all born within the past 4 months! They all slept thru the service! But just as soon as we got there, we had to leave. We had to get back to the airport by 6pm. Oliver slept on both flights back home. We got home at 10pm, but we landed in a different terminal than we left in, meaning our car was parked on the other side of the airport! So Andrew grabbed a shuttle, I waited for the car seat, then he picked me up. We knew our gas was low but thought we’d make it to the gas station by our home…ha. It was 11pm and we run out of gas on the overpass! We coast to the off ramp and call my dad. He comes in like a knight and brings us gas. We get to a gas station and home by midnight. My mom was up waiting for us and told us the kids were great and went home. Oliver was out and slept until 6am and then our day started yesterday. It was a long tough one.

But we are home. Things are back to normal and the girls were awesome while we were gone. I realized I would be lost without my parents! Man without them we would have had to take everyone to SD and be paying for the next several years on it and would be still waiting for gas on the freeway 😉

So I can honestly say I married into a great family as well as Andrew did. How did we get so lucky?

This is pretty much how Oliver was the entire time and this is his sweet natured cousin wondering what could possibly be so wrong. Oliver and Jayda, isn’t she so pretty?! Andrew and his brothers

Papa Steve and Grandma Cheryl with the latest edition in Grandbabies

Spunky Andi

Kim Nothdurft

1 comment

April 2, 2009

Why do I need to think of something to say when I can just repeat what my 4 year old says…
Andi had a shirt on with a word on the back
Andi: This shirt says barbie dot com
Mom: No it doesn’t
Andi: What does it say then?
Mom: Guess (as in the brand)
Andi: See I told you it said barbie dot com

Andi: Mommy
Mom: Yes
Andi: On my birthday when I turn 5 can it be a surprise party?
Mom: Sure

Andi: Are skunks bad?
Mom: No
Andi: Then can we go to the skunk store and get one?
Mom: No

For financial reasons we had to pull Andi out of pre k so these are the conversations we have all. day. long.

Family adventures

Kim Nothdurft

1 comment

March 30, 2009

Last week Andrew’s brother, wife and kiddos came to visit and we had an amazing time! So much fun! They came during the week and surprisingly enough daddy was able to take a lot of time off and we all hung out. The kids hasn’t all been together since November of 2007 so it was a blast watching the kids play. Wednesday we took Lily out of school and we all went to the zoo. It was a really nice day, can’t beat AZ in March. The kids were all well behaved and then got drenched in the splash zone at the end of the day. Oliver screamed all the way there and back home, but he was good at the zoo. Thursday Lily went to school and Andi and her cousins went to gymnastics, her teacher let the kids join the class free of charge. They all had a blast, it was fun to watch them. Andi was showing off a bit in front of her cousins, but I wouldn’t expect anything else from her. Our little show off. Then we went to lunch and sat outside at this cute Mexican place, then to the mall, then to their hotel and the kids swam in the heated pool. That night Andrew and Andi had to go to soccer practice. Andi started soccer and they didn’t have anyone to coach so Andrew stepped up. I will use my friends expression “it was like herding cats”, but cute. Everyone went along to practice but Lily, Oliver and me (I was tired!) but then everyone came over for pizza afterwards. It was so funny watching the kids, they were all over the house, wrestling, gymnastics, etc. It was fun to watch them all get along so well.

Friday we just hung out at the house for a bit then went to an outdoor mall with a play area for the kids, had some lunch and off to the airport to see them off. We were all a little sad to see them go, it was such a short trip and went so fast, but we are glad that we are all getting together at Andrew’s other brothers place in June and we get to see our new baby niece and attend her baptism. That will be in Colorado. It is so cool that the cousins are all within the same age range from 0-6, but it sucks that we all live in different states. We just all have to do our part to keep in touch and visit when we can. I have such fond memories of growing up with my cousins and so much want the same for my kids.

Saturday Andi had her first game and well she started out good. She was the only girl and the tallest kid on the team. She is so athletic and looked so good out there, but after maybe 10 minutes and not getting a goal she declared that “I quit!” she said it was too hard and didn’t want to play anymore. She sat crossed legged with her hands on her chin. Not our proudest moments as parents but what can you do? She will continue to go to practice and the games even if she sits the sidelines, she can’t quit. That was how I was raised and will do the same.

I am a little jealous that Andrew and Andi are headed to Colorado this weekend to meet our new niece Jayda! She is only 10 days older than Oliver! Lily, Oliver and I will meet her in June like I mentioned before but Andrew wanted a trip with just Andi and what better place to go than to meet our newest family member. But I am a little jealous, can’t lie. June can’t come soon enough.

Lily had an awesome day in therapy today and then was sent to school. She was so happy when I dropped her off, I hope she wasn’t too tired. She trotted on Ruby the horse this morning and laughed and clapped. That kids loves going fast!

Oliver is good. 7 weeks old and growing like a weed. He is in size 2 diapers already! He goes for his two month check up next Monday as well as Andi goes for her 4 year check up. He has already rolled over twice out of anger while on his tummy. He has a bit of a temper and does NOT like the car seat, the swing or bouncy seat. If he is awake he demands to be held and all is well, if he is held. He spends a lot of time in the sling or bjorn while I vacuum, clean, cook, etc. Luckily he does take a really long nap in the afternoon that I use for work from home stuff, Facebook (guilty pleasure), blogging, etc. I suppose I could do something more productive, but I’m not in the mood.

Well this is long and scattered, when isn’t it? I thought of a great kids book idea last night while feeding Oliver and wonder how does someone go about that? Just make the book then try to sell it? It really is a cute idea. But don’t we all have great ideas at 1am?

Just wanted to add that Aunt Carol is in our prayers, we love you.

And baby Siar is in our prayers. We hope you are off the vent and home really soon with big healthy lungs!

We love you!

The kids minus sleeping Oliver

Oliver 7 weeks

Big week!

Kim Nothdurft

4 comments

March 7, 2009

Well it’s been eventful around here!

Thursday Oliver was not only 4 weeks, but also 1 month. How often does that coincide?

He is doing well. No fever, a little congested, but no other worries. Well I always worry, but he’s fine. I realized my heart can’t take another newborn (nor my house), as sweet and as wonderful as they are, these reflexes are too much. He reminds me a lot of Andi. He likes to be walked around, only goes in the swing when he’s asleep and cries in the car seat. I am wondering where my mellow boy went and am wondering if we are meant to raise very strong willed children. Oh and who are these people who say their kid slept through the night at one month? Why am I not one of those people? Oh well. He is adorable and that counts for a lot.

Anyway, on to Lily, Lily lost her two bottom teeth! Well maybe lost is a loose term, daddy took some fly fishing scissors and just pulled them out. They were hanging by a thread and her adult teeth are already in behind the baby ones. I think this is the start of those awkward years…crazy teeth. I’ve tried to take a picture but she won’t cooperate. Lily scared us with a strange new seizure last night that lasted about 2 minutes. Dr. Mom is trying to figure what should increase, but thinks she might have to call in reinforcements since I have not seen this type of seizure before I am not sure what med would stop it. I hope something will. She has been doing so well, I hate to see new seizures. She has had a growth spurt so she might have just grown out of her dose.

It was funny, when they admitted Oliver the chart nurse was going over everything and asked about family history, I had to tell him about Lily and he said “Wow you just rambled that off like you’re some medical professional, are you?” I smiled and said “I should be”.

Andi…Andi..Andi. Andi has been a little difficult lately. Lots of tantrums and has been very hard to deal with. I have been doing my best at sharing “me” but it doesn’t seem to be enough. I know we are still adjusting, but yesterday I was looking for military preschools on Google….not really.. but. She did just say something pretty funny, she said “I wish Obama would come over and see my baby brother, he would like him”.

Silly sleeping Lily

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