Calm Amongst the Chaos

Healthy as a Horse

Kim Nothdurft

December 29, 2008

My sister told me on Christmas that next to spinach, sweet potato’s are the best food you can eat.
I thought well that is awesome! Not because I eat sweet potato’s, actually you’d have a better chance of catching me eat my own arm than a sweet potato, or a cooked carrot for that matter, but it is awesome because my Lily LOVES sweet potato’s and has them almost every night with her meal. It is perfect for her, they are soft, sweet and really that is all she cares about. I started thinking about the rest of her diet, applesauce daily, oatmeal daily, banana daily, peanut butter, yogurt, geeze this kid has one of the best, most antioxidant diets around, plus she gets a vitamin suppliment that goes in a shake every morning. No wonder she never gets sick! Ok, except for that constant runny nose (she currently has a cold, but it never seems to get worse than that), but seriously, I am always told, get her a flu shot, kids “like her” get the flu and have bad consequences from it. Well the only time Lily ever got the flu was the year she got the flu shot. Her and I both got influenza B, when the shot was for A. But we were in the hospital (during her surgery) and it was flu season. But she was no worse than me and it ran it’s course and nothing extreme happened. That was 4 years ago! She has been healthy as a horse. Never hospitalized for anything other than seizures.
Maybe it is because of her diet. I think it being by mouth makes a big difference as well. Now of course she will be struck with the bubonic plague since God is funny that way, he doesn’t like the words always or never.
I have to say though, I kind of feel proud. I mean, when you have a kid that has a condition you, as well as no one else have no control over, at least there is something I can do to keep her kicking and living a life with good quality.

Deep thoughts by Kim.

I hope you all had a Merry Christmas and have a safe and Happy New Year.

Updates

Kim Nothdurft

5 comments

December 17, 2008

I still have not gotten the report from U of Chicago. I want to be able to put Lily’s exact diagnosis on this blog so others can do searches on it, but I don’t want to until I have the exact words.
The exact mutation/deletion.
We went to our geneticists appointment yesterday, well Lily’s apt. and I was bummed to have gone empty handed. Of everyone, I mostly wanted her to be able to read the report. She said she would have suggested testing Lily for CDKL5 if I hadn’t already said she had the diagnosis. She also said it is not a Rett Syndrome dx, just similar to and could be called Atypical Rett. I guess it is just easier to say rare gene mutation to strangers who ask.
Geneticists wants us to take her to see a GI since reflux is so common in these kids. I said she doesn’t have it and she said, she might without us knowing. But then we think about all the times Lily cries out for what we think is no reason and think, OMG maybe she is having reflux.
We talked about her getting an EKG, I said she had several during the neuro study, but like most Dr.’s she wants to have one ran herself. She wants to rule out any arrhythmia’s.
I really like this Dr. and can’t believe how long it had been since we saw her. I just got so discouraged with not finding answers, I took a long break. She understood and if I don’t say so myself, she seemed impressed with my knowledge. She also said she thinks I am doing so well keeping up she doesn’t know if she could do as well. I said yeah but I don’t quite know how to read the medical journals I stumble across, so I think my willingness to learn teamed with her knowledge, we will know everything there is to know. 🙂
She was also annoyed with why our Neuro wouldn’t run the test and when I defended him to say his speciality is epilepsy she said he needs to know a dx b/c there is a lot to different disorders and what AED’s work better for each situation etc. Anyway she was mad. I was smug.

On another note, I was totally annoyed last week when Lily and I had a meeting with her new case manager. She had me over look papers and sign. One paper said “child receives all nutrition via g-tube.” I said “this isn’t right.” She said “When did that stop?” I said, “I guess when they cut the cord”. Sigh. Nice to know how well we are looked after. Having Lily eat by mouth is a huge achievement for a child with her disabilities and I am very disappointed in the lack of interest they have in her. I get it, they are busy and under paid, but that is a huge thing to have wrong.

Tomorrow morning we have breakfast at Lily’s school at 7:40am with the principal, because Lily is the “most improved” child in her class! Go Lily!

Another one hit…

Kim Nothdurft

2 comments

December 2, 2008

“I know God will not give me anything I can’t handle. I just wish that He didn’t trust me so much. ” Mother Theresa.

I don’t know if it is me getting older, or that cancer is just getting nastier and nastier. I went from only having having Grandparents affected, to knowing young, vibrant, close people in my life being affected. This is so not about me, but I am just in shock to see such wonderful amazing people affected.
I got to know Kelly through the internet from when our girls were just little things. Her Janelle and Lily are so similar that we just though when one girl gets dx the other will have the same results. We met twice. Once on their turf, Cali (they drove down and met us in Coronado one summer) and then they came to AZ for The Angels spring training. We had a parents night out and had probably too much wine! 🙂 But we stay in touch via blogs, facebook and the occasional text message. Kelly has so much on her plate with raising an awesome family, sweet Janelle, big brother Jack and being a loving wife as well as managing a career. She doesn’t have time for Leukemia and now she is at UCLA for a month getting treated. You never know why people get hit and so hard, but check out her blog. She is keeping her sense of humor and positive attitude that has helped her kick everything else butt that has tried to get her down.
Send her a comment, a card, keep her company as she knocks this cancer on its ass and get back home before Christmas.
Love ya Kelly!

UPDATE!!!

Kim Nothdurft

2 comments

November 21, 2008

So I got a call this morning from Lily’s pediatrician saying that he emailed the research Dr. since it had been 3 weeks and she said she had the results and will send him a report in a week or so. But he read me her findings and they said that Lily had a spontaneous mutation on her CDKL5, we don’t know the name of the deletion or what Axon (or whatever it is) and I am praying it will be on her report when that gets sent, which Ped says he will forward on to me, but Andrew nor I are a carrier of whatever this thing is! We had no mutations and so the chances of any more kids like Lily would be next to none. Of course there is no guarantee of anything, but hearing that we aren’t carriers took the weight of the world off my shoulders. I have been so antsy these past few weeks. My attitude hasn’t been awesome and I have been very snapy. I think carrying all the weight of “what if’s” was really weighing me down. I feel so relieved. I do hope that the report will have more info on Lily. I would like to have a pinpoint on all this. A name. We are very close. We do now know for sure Lily has some sort of mutation on her CDKL5 and from there I am hoping to learn more. I am wondering if she will get the dx of Atypical Rett. I guess some more wait and see, but we waited 6 years right, I can be patient? Ha!
So I just wanted to share that. With this news I have opted to try a VBAC and my OB is totally on board. I have read just about everything I could get my hands on and I think the benefits out weigh the risks. I will not be able to be induced so I am praying to go into labor naturally (something I have never experienced before) and will have to wait some time for the epidural so to not slow down the labor process and try to eliminate the need of pitocin. The only reason I had an elected c-section with Andi was I was scared to death that a birth injury caused Lily’s issues and I would not risk my child again. But I KNOW that was not the problem with Lily and I hated the whole process and the cold feeling of it all and of course the recovery. Yuck.
I still have 12 weeks left and I plan on reading more and finding out more and possibly taking another birthing class… it has been over 6 years! I want to have this baby naturally and I pray I get that chance!
Thanks for all your concern and prayers. I will continue to update when I get that report!

Lend a helping hand?

Kim Nothdurft

2 comments

November 20, 2008

Lily has had the same nurse for over two years now. She has become a family member to us as she is in our home 4-5 days a week. She is willing to do 5 small shifts when most nurses wouldn’t even think of it. She meets Lily off the bus, when the weather is nice they take walks and she feeds Lily dinner and gives her meds. She has been a very special person in all our lives and we all love her. Andi Jane tells her daily that she loves her and I am pretty sure the feeling is mutual. 🙂
She is like another Grandma to the girls and we feel pretty lucky to have her.

Recently her daughter had a baby girl, Kaiya, that needed open heart surgery and unfortunately she only lived two weeks. The family is having to pay a huge amount out of pocket to lay her to rest. I added a link to donate at the top right of my page to see if anyone would like to help out. I have also linked below to the families site so you can learn more about her.

Prayers to their family for peace and comfort.
Kaiya’s Site

Still nada

Kim Nothdurft

3 comments

November 19, 2008

Still sitting here on pins and needles. I’d say God is trying to teach me patience, but I think waiting 6 years for a dx is pretty much a test in patience in itself. I guess on the scale of things 6 years vs. 3 weeks I really shouldn’t complain, but I am going batty here waiting.
Things are fine otherwise. Girls are good and healthy. Andi and I had a great time in Colorado, the weather was perfect and it was fun seeing my sister in law preggers. We are less than a week apart. So cool!
There isn’t much else to report. I will update when we hear something. I have been on the phone and all I hear is “nothing yet.”

Small Update

Kim Nothdurft

7 comments

November 4, 2008

So last week I emailed the labs at University of Chicago and a sweet girl there said she will do her best to keep me informed. I just got an email from her that said this:

“We have found something in the CDKL5 gene in your daughter that may possibly be the cause of her problems. We are still conducting studies on you and your husband. When those are complete, in the next 1-2 weeks, we will issue a new report to your physician. I’m sorry for the delay, but we should have some news for you soon”

So that is where we are at. I guess Lily’s issues are within the CDKL5 gene and we just don’t know what they found. Looks like we have another week or two to hear about Andrew and myself. Just goes to show, it never hurts to ask.

Continued prayers would be appreciated as we wait for these results.

Go Lily, Go Lily

Kim Nothdurft

1 comment

November 4, 2008

So yesterday we went to Hippo therapy (horse) and after grooming and getting out to the arena we put Lily on the horse and we both (PT and myself) thought something looked weird. Then PT says, “we forgot Lily’s pads!” I said “wanna hold her and I’ll run and get them” she said “no, let’s see how she does”. A little nervous (me), we started walking and wouldn’t you know it, Lily stayed on the entire time, over 30 minutes! I felt like Lily needed a seat belt of some sort, she just looked so big on there with no support! But not only did she do it, she did it well. It was incredible! We realized Lily only seemed to need that support because she used it because she had it. We always knew that about Lily, if you sit behind her she will lean, if you don’t she’ll sit on her own. Same with the horse. She was super tired afterwards, but that was amazing! Next week I will bring the camera.
She is always amazing us. Maybe I will just let go of her while standing…. just kidding.

Couple videos

Kim Nothdurft

3 comments

October 31, 2008

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.

You better grab something to drink….

Kim Nothdurft

4 comments

October 28, 2008

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!