Hospital visit for Seizures

Yesterday Oaklynn and I went to a church picnic. My dad, sister and her husband were there with us (Austin was at work). We sat down and ate and I left Oaklynn in her stroller to eat some lunch. After I was done eating, I took her out of her stroller and sat her on the table in front of me to hang out with us. 

About 10 minutes later she started having a small seizures where she rolls her eyes back, sticks her tongue out, blinks her eyes and moves her head back and forth. I have seen those before so I wasn't too worried. Well, they didn't stop. She would go 30 seconds to 1 minute and another one would happen. They started turning into ones where she would drop her body and close her eyes and go limp for a couple seconds. 

She had about 12 seizures in a 30 minute span. After about 8 seizures I gave my dad my phone to record the next one. Luckily we got 3 on video. I usually only see this a few times a week, not this often. Below are two videos of the seizures my dad recorded.The first one is the one I see most often. The second video is the one where her body goes limp. There were 12 of these over and over again.

We were just planning to keep an eye on her and if it happened again, to take her to the ER. I talked to another Rett mom who suggested to take her in just in case the random cluster was caused by some sort of infection she had. She threw up last Monday morning and had diarrhea for a few days so I thought that maybe she does have an infection. I called our neurologist office to talk to the doctor on call and he said I can either watch her and take her in if it happens again,  or take her in now if we feel it could have been caused by an infection. He said he can't tell us what we should do since he didn't see the seizure and doesn't know exactly what kind they were.

We  decided to take her in to play it safe. We went to Banner Desert since they have the Cardon Children's hospital there. We waited for only about 15 minutes. We got back into a room and they started asking us questions about her. Both the nurse and the paramedic student (I think that's what he was) had never seen a child with Rett syndrome. The good thing is they were asking lots of questions about it (I'm all about spreading awareness). I pulled out the video to show everyone (I love that my dad suggested doing a video) so that they could see the type of seizure she was having. The doctor finally came in and asked if we would like him to call the neurologist at Cardon children's or the neurologist at PCH (Phoenix Children's Hospital). We have been to both and were not pleased with the ones at Cardon's so we asked him to call the ones at PCH. He came back and said that they wanted us to go to PCH and get an EEG done to see what is going on.

We left there and went over to PCH and holy cow that waiting room was a joke! Luckily they called ahead for us and put us on the emergency list since we were coming from another hospital. We waited about 15 minutes before we got in a room. After a LOT of waiting and repeating the same stuff, the neurologist called and said that he wants to run some tests on her to see what is going on. I had showed the doctor at PCH the video and she explained it to the neurologist. He said it sounds more like "Infantile Spasms" than a seizure. She said they are a lot alike, they are just in different parts of the brain.

Cardon Children's told us that we were going over to PCH to get an EEG done but PCH told us that they weren't going to do that, they just wanted to admit us and start some tests and the neurologist would come in the morning to look at her and maybe give us some medication. We told them we wanted to discuss it and we would let them know.

We decided that since they weren't going to do an EEG, we would just take her home and watch her on Sunday and call our neurologist on Monday and get her seen then. It was a very stressful decision. Brought me to tears trying to make it and that might sound silly but when you have to make a decision for your child that is serious like this. . .  it's hard! It made us realize that this is just the beginning of our difficult decision making for her and it will only get harder as time goes on.

We went home and Austin took work off today to help keep an eye on her. We will call her Neurologist on Monday to talk to her and hopefully get in to see her. So far she is doing fine and acting her happy little self today. We still don't know much about the Infantile Spasms they thought she was having (other than googling about them) but plan to discuss it with her neurologist on Monday.

We had all the nurses and doctors that saw her say how much they loved her and how sweet she was. She was laughing and smiling at two of the nurses and they went to leave and said to Oaklynn, "We'll be right back". Oaklynn's smile went away and the nurse said, "Oh my gosh, she doesn't want me to leave. I can totally tell because her facial expression changed". I said ya, that's how she communicates with us. She tells us what she wants with her eyes and her smile. She responded with, "That is amazing!" I love seeing people react when they realize how she communicates with us. It's clear she wants to get something across and she does the best she can at letting you know how she feels. She is just the sweetest!

I will post again once we find out more.

Sleep Schedule

When Oaklynn was born, she started sleeping through the night at 1 week old. She was THE BEST sleeper ever!

Because of Rett syndrome, she no longer sleeps well anymore. She cries/screams going to sleep and cries/screams waking up (about 80% of the time that's how it is now). 

Her sleep schedule goes something like this:

7:30pm - Put in bed

8:00pm - Falls asleep crying/screaming

1:00am - Wakes up crying, screaming and playing

4:00am - Falls back to sleep

7:00am - Wakes up crying

It's been really hard recently being 39weeks pregnant and trying really hard to get some good sleep before I add another one who wont sleep through the night. My husband can't help out in the mornings if she gets up because he is up at 2:30am to get ready for work! With working full time and going to school full time, I think he needs more sleep and I do at this point. 

Well last night we went to her cousins birthday party. Came home and she was crying and wanted to go to sleep. We put her pajamas on and gave her a bottle and then cuddled. I took her from her dad to put her to bed and she was being SO STINKIN' cute that daddy didn't want her to go to bed yet. He wanted her to stay up and watch "The Office" with us and cuddle some more. She was being so silly and laughing and cuddling. She didn't end up being put to bed until about 9:00pm. 

She fell asleep at 9:30pm without crying AND slept until 8:30am. The good news is that she DID NOT wake up at all... she slept 11 hours straight and did cry falling asleep or waking up!!!!

Physical Therapy

Oaklynn had Physical Therapy today and loved it as always. She really likes Beth and I love seeing how happy she is with her. After PT we had a meeting with the support coordinator to talk about getting PT 2x a week. . .  IT WAS APPROVED!! We are now going to see Beth 2x a week and I'm super happy about it. Trying really hard to get Oaklynn's strength up so that we can hopefully get her walking. 

The little stool she is using, my dad made. Yes, that's right. . .  he MADE it!! We needed a stool that when she sat on she would be 90/90/90 and I couldn't find one that would work perfectly so her Papa made her one based exactly on her size. She has the BEST papa.

"Rett day"

I'm having a "Rett day" today. Oaklynn has been screaming and crying randomly. Rett syndrome is just a guessing game and I'm starting to realize how hard it is. You start by trying to figure out if it's something small like she would rather be watching a movie than playing. Or wondering if her foot is asleep or if she needs a diaper change. Then once you have gone through the small things you wonder if she is hungry, or tired. Then you wonder if she is in pain and has a tummy ache or if she has a headache. Then because we are in Arizona, I worry about her being stung by a scorpion so I start searching the area to make sure that didn't happen. Then once you've tried EVERYTHING you can think of, you have to just assume the "Rett monster" has taken over. 

You don't want to assume that she is just throwing a Rett fit (crying for no reason) but once you have tried everything, you kind of have to just assume that is it. We are having one of those days today (as we did yesterday) and it's getting to me. Being pregnant and emotional isn't helping either. Crying along with her when she cries does not help the situation!

I am also going off of about 4 hours of sleep due to the "Rett monster" causing her to wake up screaming and crying at night. It usually lasts about 3 hours before she falls back asleep again. I don't go in and get her because there is nothing I can do even if I get her. I just get up at 2am and start cleaning (since i can't sleep though it anyways) and then go back to bed once she falls asleep.

I just wish she could tell me what was wrong so I could help her easier. I try to think I am a pretty patient person so I don't think it's because I am impatient. I think it's more having a hard time listing to your child scream as if they are in pain but not knowing how to help them or if it's even pain or just Rett syndrome taking over. This Rett stuff really is hard work!

Vinyl Board

I just finished creating this vinyl board for Oaklynn's room. This is by far my favorite creation yet. I think it's because it hits home for me. I don't usually create things just for me. I wait until a customer comes up with the idea and then put it in my home too. This is the first time I did something for myself and it's my favorite! You can view it at my Etsy shop HERE.

Can't wait till Oaklynn wakes up tomorrow so I can put it in her room.

Speech Therapist

We started with Speech therapy on Monday and it went GREAT! We both really like her AND she has worked with a Rett girl before when she was a Developmental Specialist. So because of that, she has great ideas with how to get Oaklynn to communicate without words. We are really excited to continue seeing her and feel blessed that we got someone who has experience with Rett syndrome. We look forward to our future appointments. I am excited to start on our communication board for Oaklynn!

Happy Birthday Grandpa

Since Oaklynn can't talk, we have to think of creative ways for people to know that she is thinking about them and loves them.

Relax

I love watching Oaklynn when she is sleeping. It's the ONLY time where her body can relax and it isn't constantly moving. Since she can't control her body, I am sure that by the end of the day, she is exhausted from being forced to move it so much. I love seeing her being able to relax finally. . . SO SWEET!

Yes, those are boys pajamas. She was at my parent's that night and I forgot to bring her pajamas over and that's all my mom had available. . .  Don't judge!

Remedy for sickness

Oaklynn woke up in the middle of the night crying (which is common with Rett Syndrome). I usually just check on her in the video monitor to make sure she isn't stuck and leave her in there to go back to sleep. That is exactly what I did this morning. She slept in until 9am. When I went into get her up, she had thrown up everywhere. It was all dry which meant that she had been sleeping in it for a while. I felt SO BAD!! 

She was having a pretty grumpy day so I decided to take her to Nana's house (my mom's). Nana ALWAYS puts a smile on her face. . .  She is Oaklynn's best friend. She had bought some new books for Oaklynn to read with her so she decided to show them to her today. Oaklynn was smiling and giggling the whole time. What's a better remedy for sickness than Nana?!?

Of course she was miserable again when we left. At least she got a few smiles in today!

Bragging Rights

I found this blog (http://www.shutupabout.com/blog/) and there was an entry I just had to share. It's about being a mother of a child with learning disabilities while hanging out with other moms. We thought it was funny... ENJOY!

Bragging Rights for My Child with Learning Disabilities

Ever get up caught in one of those conversations with fellow parents–at a school function or family gathering–where everyone is bragging about their children? Bragging about our kids is supposed to be fun, right?

I ask because I’m still trying to figure out the fun part. Here’s a general idea of how these conversations typically play out for me. I smile, nod, and listen to the other parents. They say things like: My daughter is 2 grade levels ahead in math; My son speaks 3 languages; My daughter just won the tennis tournament…for the fourth year in a row; My son saved 2 hump back whales last summer while we were sailing across the Atlantic [Okay, I’m exaggerating for dramatic effect]; My dog started his own organic rawhide business and made us millions [complete fabrication...for dramatic effect].

I quickly realize I am out of my league and I need to escape the conversation, stat. I don’t want to be too abrupt. I need to look natural. So as I slowly back away from the group, I throw in a, “Wow, what an amazing kid.” [And that dog–just phenomenal] Just as my statement trails off, all eyes are suddenly on me. I want to say, “No, no, no. I appreciate you offering me a turn to boast about my wonderful kid, but I’ve got to scoot.”

I don’t say that. Against my better judgement, I proceed to brag. As I do, I  unleash a plague of crickets and bring the once lively conversation to a screeching halt.

“Well”, I say, “My Kid recently made intermittent eye contact during a conversation!” [Hmm. They don't seem impressed. I wasn't going to mention this next one because I didn't want to be such a braggart, but fine.] “My Kid also recently paddled a canoe!” [No reaction. Clearly they are just confused.] “That means My Kid crossed his mid-line from right to left without switching hands!” [crickets begin chirping here] “That means the neurons between the right and left brain hemispheres are growing and connecting!” [crickets now out in FULL force]

As a parent of a child with learning disorders, hangin’ with the parents of “the typicals” can sometimes be awkward. While I can proudly say that My Kid is thoughtful, intelligent, resilient, and funny, my bragging rights are, for now, very different. Until that changes, I think I just need to work on my exit strategies.

Reversal of Rett Syndrome

Read an article that came out today about the reversal of Rett Syndrome using bone marrow transplant. It says,

"Rett Syndrome, the most physically disabling of the autism spectrum disorders, is caused by random mutations in the gene MECP2. Predominantly affecting girls, symptoms usually manifest between 6 and 18 months of age, when a frightening regression begins. Children lose acquired language skills and functional hand use; movement deteriorates as other Rett symptoms appear. These may include disordered breathing, Parkinsonian tremors, severe anxiety, seizures, digestive and circulatory problems and a range of autonomic nervous system and orthopedic abnormalities Although most children survive to adulthood, many are wheelchair-bound, rely on feeding tubes, are unable to communicate and require total, lifelong care."

"First author Noël Derecki and his colleagues began their work with male Rett mouse models, which lack any Mecp2. These Mecp2-null mice mimic the human disorder, with neurological symptoms beginning to appear at about 4 weeks of age and an approximate life expectancy of only 8 weeks. Radiation treatment was administered at 4 weeks, followed by a bone marrow transplant from normal (wild-type) mice. As engraftment – the migration and repopulation of new microglia – took place, the Rett mice began to grow instead of fail. Body and brain sizes approached those of wild-type mice, gait improved and mobility increased significantly. There were no signs of the severe tremors seen in untreated mice. Apneas and other breathing irregularities were markedly diminished. The oldest of these mice is now almost a year. Work with female Rett mouse models at more advanced stages of disease is currently underway."

Monica Coenraads, Executive Director of the Rett Syndrome Research Trust added, “I’ve been in almost daily contact with Dr. Kipnis since he brought his very original proposal to RSRT, and have been amazed to see the development of this brutal disease stopped in its tracks. A question that arises, of course, is whether replacing faulty immune cells with healthy microglia through bone marrow transplant would arrest or ameliorate already existing symptoms in humans. We do know of a case in which a girl with Rett Syndrome who was treated for leukemia gained considerable communication skills after a bone marrow transplant, and was able to converse with her mother for the first time in their lives. RSRT is in the process of exploring bone marrow transplant as a treatment modality, with full awareness of the serious nature of such a trial. In research, we are risk-takers. In clinical application, we are conservative and will be examining this carefully as more information emerges.”

If you would like to read the whole article, you can see it here... http://www.rsrt.org/about-rsrt/press-releases/bone-marrow-transplant-arrests-symptoms-in-model-of-rett-syndrome/

***** WE WILL FIND A CURE *****

Visitor

I was sitting at the desk working on the blog and I got a cute little visitor...

She's my little ham and I love her to pieces!!

Toes

Oaklynn and I showing off our Rett Syndrome Awareness Toes...

 

Who thinks we should paint daddy's next?!?

What I believe...

Thinking about Oaklynn recently and what her future holds. I know that my religion and what I believe in is what gets me through each day.

I know that Oaklynn most likely will never:

-Call me mommy

-Tell me when she is hungry

-Be able to use the bathroom by herself

-Run into my arms

-Feed herself

-Start a family of her own

- Control her body

- Tell me why she is in pain

-Tell me what she wants to do

-Dress herself

-Hold her own cup

-Say I LOVE YOU MOM

There are MANY other things she will never be able to do but knowing what I know helps me get through each day.

I know that I will see her again in heaven in the next life. I know that she will have a perfect body and will be able to run into my arms and I will finally be able to hear her say, "I love you mom". I will be able to sit down with her and have a conversation and she will be able to tell me what it was like having Rett syndrome and everything she went through. 

 I couldn't imagine not having the gospel and going through this (www.lds.org). I am grateful for my testimony and for the relationship I have with my Father in Heaven. I know he sent her here to help not only Austin and I, but to help all the lives that she comes in contact with. She is my "Silent Angel" and I love her more than words can express.

I now have a hard time listening to people complain about the little things in life. There are much greater things to complain about and yet my daughter can't complain about any of them. She has taught me what this life really is about and to be grateful for everything and to look at the positive things in life. Even if you feel like the world is crushing down on you, find something positive to take from it. 

 I try not to focus on where she will be in the future and what my life will be like taking care of her forever. Instead I focus on the beautiful fun happy little girl I have now. I cherish each day I have with her and every little accomplishment she has. We have been seeing changes and regression and so I like to focus on the positive because I never know when things will all of the sudden change and I never want to regret not being there for her in the moment because I was too focused on the future. Being with her and seeing her happy face is what brightens each day. 

 Some of my favorite quotes are:

"Everything you are learning now is preparing you for something else." -Marjorie Pay Hinckley

"Go forward in life with a twinkle in your eye and a smile on your face, but with great purpose in your heart." -Gordon B. Hinckley

"God doesn't give us what we can handle. God helps us handle what we are given."

"Some people never get the chance to meet their hero... I gave birth to mine!"

Dentist

Oaklynn had her first dental appointment. She did SO GOOD! She was all smiles and just sat there patiently and quietly while the dentist looked in her mouth and cleaned her teeth. She got a little rubber ducky, a toothbrush AND a sticker when she was done. She was all smiles the whole time (does that surprise you?!?).

That thing on her arm is her new arm brace. It prevents her from hitting herself in the head and biting her wrist. She doesn't mind it at all. We are going to get one for her other arm. We just started out with one to make sure it fit right, we liked it and her left arm was doing more damage than her right.

Physical Therapy

When we started Physical Therapy the beginning of December, Oaklynn didn't like it. She is more of a personal trainer for Oaklynn. She has Oaklynn doing situps, squats, sit to stands and other things. Oaklynn would just start fussing to get out of PT when she was here.

Since we found out about the diagnosis Oaklynn's Physical Therapist, Beth, has been taking a new approach to her PT. She still does all the same stuff but in a different way. She explains to her what they are doing and why they are doing it. She talks to Oaklynn the whole time and interacts with her. The last couple times, Oaklynn has LOVED having Beth over. She gives Beth lots of hugs and smiles. She has been doing really good at  her situps and her bridges! This last time Beth told her what they were going to do and without helping her Oaklynn started doing bridges... I mean one after the other. She did about 20 in a row and then started doing situps and then back to bridges. She was looking at me and Beth smiling the whole time and we were just cracking up. She totally knew what she was doing. She is such a ham!

Although none of Oaklynn's therapists have working with girls who have Rett syndrome, they are all going out of their way to do as much research as possible and figure out how to help Oaklynn the best they can. We are very pleased with the therapists we have. Beth mentioned coming twice a week to try to get Oaklynn walking. She sees lots of potential in Oaklynn but feels that she needs more time during the week with her in order to get her to walking. She had heard that the sooner/younger you can get a Rett girl to start walking, the less likely they are to loose that ability. We have a meeting with my support coordinator next Friday to try and get it approved. (sorry the pictures were blurry, they were from my phone)

 This picture (below) is Oaklynn doing her bridges. She just kept going up, down, up, down (with her pelvic bone)...

Beth is working on getting her a walker. One that straps you in so you don't fall and also helps to strengthen and align your legs so she is walking correctly and not on the inside of her feet with her toes pointed out.

New Neurologist

Friday we had an appointment with a new neurologist. It went really good. Oaklynn was all smiles the whole time and would randomly start talking (jabbering) really loud while the doctor was talking. When we all stopped talking and looked at her, she would smile... lol. The doctor said that Oaklynn just makes her so happy, she's a "little ray of sunshine".

Anyways, she showed us the EEG and told us that it doesn't show if she has had seizures or if she will have them. It just shows brain activity and if it's a possibility that she has had them or could have them. Her brain activity showed certain "pins" that are common with those who have seizures. She said if she was a betting woman, she would bet Oaklynn will end up having seizures. She said that she doesn't want to medicate her until we know for sure that she is having seizures. She told us about all the different kind of seizures and what to do if we realize she is having one. She said if it lasts more then 5 minutes, call 911. If it doesn't, call her immediately to get her on medication.She told us to watch youtube videos to see what different seizures look like so we can recognize them when we see them. Gave us a little packet on Epilepsy resources and other information.

We were really pleased with her and are going to keep going to her instead of the other neurologist. Oaklynn loved her, we loved her and we felt that she knew what she was talking about. We were very pleased with the visit.

Last Sunday morning I watched old videos of Oaklynn waving at me and doing things that she can no longer do. I had a really rough rest of the day and was emotional the whole day. I will be waiting to watch these seizure videos until I have a day with  nothing planned, lol.

Big girl

Oaklynn has a hard time keeping a grip on things (part of Rett Syndrome). I thought I would help her hold a spoon so she can try to feed herself like a "big girl". I mean just because she can't talk, doesn't mean she doesn't want to make decisions and do things by herself. 

I attached a spoon to her hand by using a hair tie so that when she opened her hand, the spoon wouldn't fall out.

I then put the food on her spoon and held her elbow to help guide her to her mouth. (If I don't hold her elbow, her arms would be all over the place because she can't control her arms)

She was SO PROUD of herself and loved being able to be a big girl and feed herself!! I wanted to cry seeing the joy in her face when she got it to her mouth on her own.

Just because she is different, doesn't mean she can't try things that kids her age do. I just have to get creative and think of ways to let her experience these things in a different way.

How can you not LOVE that last picture?!? She is too stinkin' cute.

Changes

Ever since we found out Oaklynn has Rett syndrome,  we have had a lot of changes:

COMMUNICATION
We have been trying to figure out the best way to communicate. We know that she understands us, we are now just trying to figure out how to understand her. I've been giving her choices of things to do and watching her either smack at one or stare at one to make a choice. I ask her a question of something I KNOW she wants to do (ex: do you want to rock in your rocking chair) and watch her face light up. We are now responding to her with, "Oaklynn, mama knows you want to do that because of the smile you gave me." or "Because you hit the banana, mama knows you would rather have that over squash.". We're trying to help her understand how we are understanding her so we can all communicate better.

Being able to communicate with her has made things so much better. My family has even mentioned how they understand her more and feel like they can talk to her and communicate better with her. It's obvious she understands what you are saying to her because of the way her face lights up when you talk to her like a big girl. She was never included in conversations before because we thought she didn't understand us. When you talk to someone and they don't respond, you just figure they don't get what you're saying! She loves to be talked to and asked questions and included in the conversation. Below is a video of proof that she understands us. When her apraxia gets bad and she can't control her arms, she can't do things like this. But she has moments that are calmer that she can...

ARMS
Oaklynn has been pulling her hair for a LONG time now. A few months ago she started biting her left wrist. About a month after that, she started hitting herself really hard in the head. The arm biting and the head hitting started getting better but she still always has her hands pulling her hair. Now that we know that she doesn't WANT to be doing that stuff, we are going to try our best to help her out. We bought an arm brace (http://www.armbraces.com/armbraces.html)  online to put on her arm when she starts hitting herself. She doesn't seem to mind when you hold her arms down. Of course she fights you because she can't control it, but she doesn't make a face or a noise that shows she's irritated. Recently she only bites her arm when angry but she is always pulling her hair and has started hitting her head more often again. It could get worse as time goes on but we wont know until we get there. I should get the arm brace in the mail this week. I'm hoping that this will help her to be able to focus and play the way I know she wants to. I just bought one (although I know I'll need many) because my mom is wanting to make her some. We just needed something to look at and go off of to figure out the best way to make it!

FEET
Oaklynn has always stood on the inside of her feet (very far inside) and with her toes pointed out. We were told by he PT that this is because of her low muscle tone. I took her to an orthotist about two weeks ago and we fit her for orthotics (http://www.surestep.net/). We are hoping they will straighten her feet out and help her with stability while trying to walk. She pulls to stand all the time so now were working on stability.

BABY
My sister had her sweet little boy recently. Pictures do not do this boy justice. He is just the cutest thing ever! I am so excited for Kynslee to come. Oaklynn got to see him and I was anxious to see what she would do. We held her arms down and got him close enough for her to see him. I said, "Oaklynn look, mama has a baby. This is your cousin baby max. You're going to have a baby soon too! Baby Kynslee is going to come soon to meet you." She stared at me the whole time I was talking and then looked down at Max and got a big smile on her face. It's moments like that, that you know she understands what I'm saying. Any time I talk about our baby Kynslee, she gets happy. I think she's just as excited to meet her sister as we are.

PEDIATRICIAN
We have a new pediatrician (becuase our old one was a JOKE. Never listened to my concerns or got us the help we needed). We went to see her yesterday to talk about the best way to help Oaklynn. She is not super familiar with Rett syndrome but she is very "natural", meaning she'll give you vitamins and things before she would ever recommend a drug. She gave us 3 new vitamins, 2 for Oaklynn's brain development and 1 for her liver. The liver one will help her with digestion and in turn help her sleep better. Oaklynn has been off gluten for a couple months now and her constipation is pretty much gone. It is very common for kids with Rett syndrome to have constipation problems. Oaklynn's would be so bad that she would scream and bleed every time she pooped. It was so sad!! She was always in so much pain because she had such a hard time pooping. Since being off gluten she poops regularly now and we don't have those episodes.

THERAPY
Oaklynn's therapists have never worked with Rett syndrome before. They have all done a ton of research about it and are doing all they can to do what is best for Oaklynn. They all see lots of potential in her and want what is best for her. We are SUPER lucky to have such great therapists. Right now I am waiting for a speech therapist to call me and I'm trying to get a music therapist as well. If you know Oaklynn, you know she LOVES music more than anything! The second you start singing to her, she calms down and just stares at you. A huge smile comes over her face and she is so happy. Right now we have Occupational Therapy, Physical Therapy, Developmental Specialist, working on starting Speech Therapy and hoping to get Music Therapy!

The EEG

This afternoon we had our EEG scheduled. An EEG is short for electroencephalogram. It is a test that measures and records the electrical activity of your brain. Special electrodes are attached to your head and hooked by wires to a computer. The computer records your brain's electrical activity on the screen or on paper as wavy lines. Certain conditions, such as seizures can be seen by the changes in the normal pattern of the brain's electrical activity. In order to see abnormalities in the brain, the person needs to be asleep during the test.

We were doing this because 80% of children with Rett syndrome experience seizures. She hasn't had any grand mal seizures but they were curious if she was experiencing some that just made her daze off and not all there. The following is the story of how today went:

Let me start off by saying Oaklynn does not fall asleep ANYWHERE but her own crib and sometimes in the car. She wont even fall asleep in my parents pack and play anymore. Last night Oaklynn all of the sudden started having diarrhea and was up screaming for a few hours and I was changing diaper after diaper to keep it from sitting on her bum. I gave her Ibuprofen after a couple hours of screaming to hopefully dull the pain of her bum (which was BRIGHT RED). She was screaming even when she was peeing because it was just burning her bum so bad. She finally got to sleep around 11pm. She had a rough night and would cry in her sleep throughout the night. I was planning to wake her up early in the morning so she would be tired for the test this afternoon. After such a rough night, I didn't have the heart to wake her up so I just let her sleep until 8am, when she woke up on her own. The day was rough because she was in so much pain. I let her watch Mickey Mouse Clubhouse and Wonder Pets most of the day to keep her happy. Surprisingly she was starting to get tired even though she slept in.

Austin got home and we were worried about taking her to the test and thought about canceling because we were afraid that she would have diarrhea during the test and start screaming and it would just be a big mess. I told him we should just go and if we have to do it again, we have to do it again. On the way to the hospital Austin sat in the back seat to make sure Oaklynn stayed awake. She started dozing off so it's a good thing he was in the back seat with her. I had to drop him off at the entrance while I parked the car. We had to get her out of the car ASAP to try to keep her awake, that's how tired she was. We checked in and got called back right at 2:00 (our appointment time), what hospital gets you in on time?!? We went into a small room with a hospital bed and a chair. Because of Oaklynn's Apraxia (not being able to control her body), we had to mummy wrap her while putting the electrodes on. She didn't mind that at all. That normally wouldn't surprise me because she is so good but because she was tired, I thought she would have been upset. The lady used a giant Q-tip and cleaned certain spots on her head where the electrodes would go. She then place the electrodes on her head and Oaklynn didn't seem to mind that either. She then wrapped her head up in gauze to hold the electrodes in place. She didn't cry or fuss at all! In fact we were still getting smiles...

Once she had everything in place she turned the light off, lullaby music on and I held her on the bed and rocked her. Within 2 minutes of that the lady said, "she's asleep!". Austin and I looked at each other in amazement... we were SHOCKED that she had actually fallen asleep. I almost started crying because I was SO HAPPY that it was going so well so far. I did not want to have to come back and do it again. After 8 minutes of her being asleep the lady said, "I only need 2 more minutes and then we'll wake her up". We are shocked at how smoothly this was all going. After those 2 minutes I started trying to wake her up. We tried EVERYTHING. We turned on the lights, un-wrapped her, I un-zipped her clothes, put a cool washcloth on her face and body, sat her up and she did NOT want to wake up...

The lady grabbed a loud toy and started pushing buttons and she finally opened up her eyes. She started crying because she was not happy to be awake.

Once she opened her eyes, she started flashing a strobe light in her face. She wasn't too fond of that (and quite frankly, neither was I!). After the strobe light was over we had to get her to calm down and stop crying. She needed about 5 minutes of brain activity after the strobe light of her not crying and awake.

I WAS SO PROUD OF MY LITTLE GIRL!!

She then took the electrodes off and while she was doing that, Oaklynn went poop! Talk about perfect timing. We were so afraid it would happen during the test and it happened as we were finishing up!

As she was walking us out, she said, "Wait here and I'll grab something for Oaklynn." She went into a room and came out with a teddy bear and said, "You did SO GOOD, I wanted to give you a present." Oaklynn smiled at her (a small smile because she was still so tired) and held her teddy bear.

 She told us to call our Geneticist tomorrow and let her know the test is done. We got home around 4pm and at 4:30pm I got a phone call, I answered it and it was our Geneticist. She said she just got the results and wanted to read them to us. We were expecting to wait a couple days for the results, not a couple hours! She only read the exact report that the neurologist wrote. Couldn't really answer any questions for us because it's not what she specialized in. Told us to ask the neurologist any questions.

She said that Oaklynn's EEG showed a "tendency to having seizures" she said by that she is pretty certain that means she is having them. She said that there were frequent spikes in her brain waves and that her brain isn't functioning up to speed. The neurologist said she wanted to see us. We are going to go to this new neurologist now who read the EEG hoping that she will have more answers and be more insightful than our last one. We are waiting to get a call from her office to schedule the appointment. 

Medication isn't something we are sure we will give her. It all depends on how we feel about it after talking to the neurologist. It also depends on if it's something that could damage her brain if we don't do or if it wont matter. Since her seizures aren't bad, it's something we are debating. We'll make a decision after talking to the neurologist and praying about it.

Overall it went SO WELL. So much better than we could have ever planned and are happy Oaklynn did so good.

Blessings

We just want everyone to know that we feel extremely blessed to have one of God's chosen spirits in our home and to be her parents. We have never questioned, "why would God do this to us" and will never be a thought in our mind. We feel like this has been a huge blessing in our lives as Oaklynn has already taught us more about life than anyone ever could and she is teachings us more than we could ever teach her. Those who have met her feel her sweet spirit and understand what we mean. I cry often when cuddling with her staring into her eyes and seeing her smile back at me. I cry tears of gladness and joy because I get the opportunity to be her mom. She makes me so incredibly happy! I'm not going to lie, life is not easy taking care of her (and it know it's going to get harder as she starts learning how to do things and then forgets again) but I wouldn't trade it for anything.

When I was in elementary school my friend and I would go eat lunch in the special education room with those kids. We did it because we enjoyed playing with them and hanging out with them. Since then I knew that I loved people with special needs. They don't judge you, or put you down. They accept you for who you are and love you unconditionally (the way the Lord does). I always said I wanted a special needs child because they found a place in my heart. Now that I have one I see it as a blessing. The Lord knows me and when i was little he knew I would be raising Oaklynn and was preparing for me to be her mom.

 Many moms who have daughters with Rett syndrome and found out about it right before they were due with another child (as did I) have told me that the first few months of their new babies life was very hard with both kids as they are both needy, but that as the younger one gets older, they are the BEST therapy that their child with Retts could ever have. When we discussed getting pregnant, it was right before Oaklynn turned one. We knew she was behind but she hadn't started regressing too bad and we weren't too concerned. We immediately got pregnant and were surprised. Down the road we realized just how far behind Oaklynn was and then realized that something mentally was wrong with her. Few months later we get a diagnosis that she has Rett syndrome and then I'm due in 5 weeks! If we would not have gotten pregnant when we did, having another child at this time would not be in our minds with how much time, money and effort goes into taking care of Oaklynn. The Lord knew that Oaklynn would need Kynslee in her life and knew that we needed to get pregnant when we did because that was his plan. We've looked back at the last few years of our life and realized how the Lord has planned our life to prepare for Oaklynn. Every decision we have made or things we wanted but fell through, were all supposed to happen for a reason. It's amazing to look back and see the Lord's hand in your life and know that he is there watching out for you and helping you along your journey.

We have felt an immense out pouring of love and support from many family and friends and are very grateful for all of it. We could not get through this without the support and love we have felt and have received in the past as we were trying to figure things out. I know that once Kynslee comes, it's going to be hard to adjust as I will have two needy kids starting out. I am very grateful to my mom for being willing to stay with me as long as I need her and to my friends who are already offering to bring me meals and help out. You all don't know how much this means to us! The Lord would never give us anything we can't handle. You just have to believe in yourself, trust in the Lord, know you can do it and it will be done.

Diagnosis

When leaving the Geneticist appointment 3 weeks ago, we set up an appointment to see her again 6 weeks from then to go over the results of the blood work. I got a call on Tuesday 2/21 to come in and see the Doctor because she had the results back (3 weeks earlier than planned). She opened up her books for Friday 2/24 and made an appointment for us to come in at a time she doesn't usually work so that Austin could be there.

We went in on Friday afternoon to find out that the results of the tests came back positive. We found out that Oaklynn has Rett Syndrome. Austin knew nothing about it where as I had researched a lot about it because she told me that was what she was testing for. Austin didn't want to research about something without knowing if that was what Oaklynn had (makes plenty of sense). Me on the other hand wanted to see if I felt Oaklynn fit the mold of a Rett Syndrome child and to my surprise, she did! I was amazed at doing the research, how much I felt like they were talking specifically about Oaklynn. I kind of wanted the tests to come back positive because we would have an answer that would make sense to me. But then again, what parent wants their child to have any type of syndrome?!?

She also tested positive for Smith-Magenis Syndrome and is the only child ever known to have BOTH defective variants in her genes. Most of her characteristics are Rett Syndrome but she does have some that are Smith-Magenis as well. \
What is Rett Syndrome?
Rett syndrome is a unique development disorder that is recognized in infancy and seen almost always in girls, but can be RARELY seen in boys. It has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. It is caused by mutations on the X chromosome on a gene called MECP2. It occurs worldwide in 1 of every 15,000 female births. It is a developmental disorder, not a degenerative disorder. Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensation, mood, movement, breathing, cardiac function, chewing, swallowing, and digestion. Symptoms appear after an early period of apparently normal or near normal development until 6 to 12 months of life, where there is a slowing down or stagnation of skills. A period of regression then follows when she looses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as hand washing, gait disturbances, and slowing of the normal rate of head growth become apparent. (Oaklynn has a normal sized head though which is rare). Other problems may include seizures and disorganized breathing patterns while she is awake. (that's why we are doing the EEG tomorrow, to see if she has been having seizures that we have been unaware of. Only about 20% of children have Rett syndrome but don't have seizures). There may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve. (her eye contact is getting SO MUCH better so that's a huge improvement).


I found this explanation of Rett syndrome for children but I think it's GREAT for adults too:

Most people have never heard of Rett syndrome. But you might know a girl with Rett syndrome! She may live in your neighborhood or attend your school. You probably noticed right away that she makes special movements with her hands almost all the time. Do you wonder why? It is because she has a condition called Rett syndrome that affects her brain.

Why is it called Rett Syndrome?
Rett syndrome was named for Dr Andreas Rett, who first recognized the syndrome. A syndrome is a group of symptoms – when you put them all together they identify a special condition. Girls with Rett syndrome have the same symptoms.

What are the symptoms of Rett Syndrome?
Rett syndrome almost always happens in girls. When she is born, a girl with Rett syndrome seems to be healthy. She smiles, sits up and may begin to walk and talk. Within the next couple of years, though, she begins to lose skills and is no longer able to do what she once could.

Here is a list of features or symptoms that must be present to call it Rett syndrome.
Her head does not grow at the rate it should. (Oaklynn's is fine so far. Very rare) She loses the ability to use her hands to pick up and hold things. She can no longer say words. She begins to make different hand movements such as clapping, “washing her hands”and putting her hands in her mouth. If she can walk, her legs are stiff and wide apart. She might walk on her toes. When she is upset or scared, her body trembles or shakes.

She may also have other symptoms like the following:
She may breathe differently, either holding her breath, called apnea, or huffing and puffing, called “hyperventilation”. She may have seizures, which happen when her brain creates extra powerful jolts that make her behave or move differently. Seizures can be scary to watch, but they do not hurt her. She may have scoliosis, when her back curves so she is leaning to one side or leaning forward. She may grind her teeth. Her feet are very small and cold. She is almost always thin, even though she eats a lot. She may be irritable or not sleep as well as she should. She may have trouble chewing or swallowing. As she gets older, she may not be able to move and walk as well as she did when she was younger.

What kind of problems does a girl with Rett syndrome have?
She has a lot of problems that affect her in different ways. The biggest problem is apraxia. Because of apraxia, her body cannot do what her brain tells it to - things like moving and talking. Just imagine how hard it would be to know what you want to do and not be able to do it, or to understand what someone says but not be able to show that you understand. It can be frustrating to have Rett syndrome.

How much does she understand?
Not being able to talk doesn't mean she doesn't have anything to say! She probably understands everything you say, but she cannot speak or react the way you want her to. Pay attention to her body language and her eyes - they tell you a lot! When she is irritable or loud, she is probably trying to tell you something important in the only way she can. BE PATIENT.

How can I help her?
Talk to her like you would someone else her age. Give her time to respond. Sometime it takes several minutes before she can give an answer or make a movement to show you she understands. Include her in everyday activities even if she can't participate fully. She is really more like you than she is different - just like a regular kid. And all kids have the same smile! Get to know her and you will see.

How do you get Rett syndrome?
You can't catch Rett syndrome! It is caused by a fault in a certain gene that a girl with Rett syndrome is born with. Genes are sets of directions that each of us carry in all of our body cells. They tell our body cells how to make the substances that our bodies need to function well. Each cell has thousands of genes, and each gene has thousands of pieces of code. These codes determine weather we will have blue or brown eyes or whether we will be short or tall and all of the other characteristics that make us all different. These chemical codes are long and complicated, so sometimes there are mistakes. Each of us has some of these mistakes, or mutations, in our body that are harmless. But sometimes, the directions get so mixed up that they caused conditions like Rett syndrome.

How come she seemed OK as a baby?
The mixed-up gene is there even before she was born. It just takes some time for enough problems to develop for us to notice that something is wrong.

How is Rett syndrome treated?
A girl with Rett syndrome may need to take medicine to control seizures or to help her motor coordination or breathing. She also needs special therapies.
Physical therapy is used to help her keep flexible and able to move better and walk.
Occupational therapy helps her to use her hands for everyday activities like eating and drinking, brushing her teeth, and even playing with toys or games.
Speech therapy does not teach her how to talk (apraxia makes that very difficult). It teaches her to use other ways to communicate.
Music therapy gives her another enjoyable way to communicate and to make choices.
Through hydrotherapy, she is able to move more easily in warm water.
Many girls participate in horseback therapy, which helps strengthen muscles and improve balance.

Just like you and your friends, not all girls with Rett syndrome are exactly the same. Some girls go to special schools, while others attend their local neighborhood schools. They may learn in different ways, but they love to learn, just like you. They also love music, sports, animals, food and friendly people, just like you!

SO NOW YOU KNOW ALL ABOUT RETT SYNDROME!


Rett was reveresed in mice in 2007 and they are testing the drug on girls right now! We have found a Rep. for Rett syndrome here in Arizona. She lives in Tucson but said she is always in Phoenix to help other families out. We are going to meet with her on Saturday to discuss things we should be doing to help Oaklynn out. Also, she is keeping us aware of events and meetings so we can meet other families and be up to date with the latest information.

We are VERY blessed to have such amazing friends and family and thank you all for your love and support. We feel that now that we have a diagnosis, we understand Oaklynn better and understand how to help her progress the best she can. Knowing that she understands us and that we just need to be patient and look for signs of communication, we now feel we are finally starting to understand her and communicate with her. If any of you have ANY questions, please feel free to ask. I am more than happy to answer any questions anyone may have. Love you all!

(You can learn more by visiting www.rettsyndrome.org)