In her shoes

I wanted to take a minute to walk you through the life of a girl with Rett Syndrome. This is a run through of things Oaklynn might have happen on a daily basis. These are things I am sure go through her head. Put yourself in her shoes.

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Imagine waking up at 4am and lying there for a few hours because no one knows you are awake. Your mom comes in to get you up at 7am and puts you down to play while she gets breakfast ready. You sit there trying to play with your toys and get really frustrated because your mom forgot to turn your favorite toy on. Mom just assumes you are fussing because you are hungry so she doesn't come in because she is trying to get your breakfast ready. So you just sit there with nothing to do while you wait for mom to make your breakfast. 

You eat breakfast and then have therapy. Therapy comes every morning (sometimes 2x a day) and some days you don't feel like doing it, but you aren't able to express that you wish you could skip a day. During therapy mom is talking to the therapist and you start rocking back and forth because you want them to pay attention to you. You really want to tell them that you want to walk in your walker today around the house, but you can't.

Therapy leaves and you get to play with your little sister. Sister is always crawling out of the room and following mom around the house. Makes you sad that you can't follow too. You really wish you could somehow get around like little sister can. 

You enjoy playing with your sister (which really just consist of watching your sister play) because it gives you something entertaining to watch. Sister starts sucking on your toes. You can't move somewhere else or tell her to stop so you try to kick your feet to keep her away but it just doesn't seem to work. You can't hide your favorite toys from sister so she doesn't drool all over them either.

Mom comes in to play but she only gets to play for a little bit before she needs to take sister to feed her and put her to bed. Once sister is in bed, mom and you eat lunch together. It usually takes you an hour or so to eat a meal. It is hard for you to chew things. It gets very exhausting so quickly. Because of Rett Syndrome, you can't control the things you do with your body and after a while, it gets to be a lot of moving that your body makes you do (rocking, teeth grinding, arm flailing . . . ). So by the time you sit down to eat a meal, you are just too exhausted to chew.

After lunch, mom puts you in bed to take a nap. You always have a hard time sleeping so it takes you at least an hour (if not more) to get to sleep. You don't sleep for long because Rett Syndrome makes it hard for you to sleep.

Mom gets you up and you go out to run errands with her. You can't control your arms so you are always hitting yourself in the head and pulling your hair. You don't like doing that and you wish mom would put your braces on your arms to make you stop. You start fussing because you have a headache from pulling your hair so much. Mom doesn't understand why you are crying. She just figures you have had enough of being out so she takes you home (although you really enjoy being out and wish you could have stayed out longer).

 You get home and mom lets you watch your favorite show Mickey Mouse Clubhouse with sister while she gets dinner ready. 

Dad comes home and you all eat dinner together. Mom and Dad are talking during dinner and you start rocking back and forth because you really want to tell Dad about something cool you saw while out running errands with mom. You really wish you could tell dad all about your day but you just sit there and listing to mom and dad talk. After dinner you get to play with dad. While playing, you smash your finger in a toy and start to cry. Mom and dad try to figure out what is going on. They check your diaper, try to give you a drink, try to feed you, try to see if you are gassy . . . they pretty much try it all. While they are trying to figure out why you are crying, they keep touching your finger (the one you smashed) and it hurts really bad. Finally the pain starts to go away so you stop crying. They get you ready for bed, give you your bottle and when that is finished, put you down for the night. Takes you another hour or two to fall asleep. Sometimes you even wake up a few times at night and just hang out until you either are able to fall back to sleep or someone gets you up in the morning.

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Imagine throughout your day, the things you do that a girl with Rett Syndrome can't. Things such as scratching your arm when you have an itch, wiping your nose when it runs, brushing the hair out of your eyes, re positioning yourself when your leg starts to fall asleep, taking a drink when your mouth is dry, holding a loved ones hand,  saying I love you. These are just some things we do on a daily basis that we don't even think twice about. 

Next time you have an itch, try not scratching it. Trying going an hour without speaking to see what it is like being able to understand everyone around you and know what is going on, but not be able to talk back. 

THIS IS RETT SYNDROME

3rd times a charm?

You can read about Oaklynn's first button surgery to get her G-tube placed on September 25th HERE.

You can read about the second button surgery on October 16th HERE.

So on Wednesday we got home from our second button surgery. That night I woke up at 1am and looked at the video monitor that shows me what the girls are doing in their rooms. I noticed that Oaklynn had fallen asleep on her knees (which happens often. She rocks herself to sleep on her knees and then can't get off her knees and falls asleep). When I saw her, I decided to go into her room to lay her down. I was practically sleep walking as I was on only 5 hours of sleep in 48 hours (from being at the hospital the night before). On my way out of her room and jammed my baby toe into her bench. I immediately knew I broke it. It was facing the other direction! I went to my podiatrist the next day and after he took x-ray's, found out I have a spiral fracture in my toe. It is wrapped up and I'm in a walking boot. If it doesn't heal properly, I have to have surgery to correct it.

Well, then on Friday night Austin was changing Oaklynn and getting her ready for bed and he noticed that her button didn't look right. I came in to look at it and it looked like it was pulled out of place again. I thought that maybe we should try to do a feed to see if everything is OK. When I opened her button and tried to put the milk in, nothing went in and she was really uncomfortable. Right then, we realized that something wasn't right. There was nothing we could do about it that night (as there was NO WAY we were going to go to the ER that late at night and go through all that again). So we all just went to bed. 

On Saturday morning I fed her breakfast and had forgotten about the button problems. We went about our day and headed to a boutique that was raising money for Oaklynn. I wanted her to meet some of the vendors who were helping her out. While we were there, I noticed that her button was leaking on her shirt pretty bad (more than it ever had before). I then remembered the problems we had the night before. We left the boutique and went home to try a feed to see if there were still problems. When I tried again to feed her, she was in pain and the liquid wouldn't go in. I immediately called the on-call surgeon (which happened to be our surgeon who placed the first button) and she said it sounded like the button moved into her stomach wall again and was in the wrong spot. She said we would have to go to the ER again but that we would schedule the surgery at 4pm so we should get there at 2:30 to check in and stuff. We couldn't do the surgery until 4pm because of the oatmeal I had given her that morning. She needed to have an empty stomach for the surgery.

We again dropped little sister off at my parents (LOVE THEM) and went to the hospital. This time it was faster than ever before. We went from one room to the other without waiting too long. We tried to be really positive about having to be there a third time. We sang songs and did a little photo shoot.

 She also chilled and watched some "Finding Nemo".

When we went back, the surgeon was right there ready and waiting for us. She took Oaklynn from us and the surgery started just before 4pm. They did the same thing as before (she had to go under) but the only difference is that she tried a different button this time. They put the MIC-KEY button in this time. The bard button that we had before, you can't change the size of the "ball" that is in the stomach. Where as the MIC-KEY, you can make it however big you want to. So we were thinking that if we made it bigger, it would be harder for it to shift out of place. 

She came back out 15 minutes later to tell us it went really well. We went back to see Oaklynn and hung out there for maybe 20 minutes and then got to go home! This was the fastest surgery yet. 

So far she is doing good. We already gave her a feed of breast-milk before bedtime and it went into her button SO FAST!! I really feel good about this new button and am praying we don't have to go back to the hospital anytime soon.

So, in just 26 days we have had G-tube placement surgery for Oaklynn, another surgery to correct the button that moved out of place, I broke my toe, and another surgery for Oaklynn to correct yet another button that moved out of place. 

I am for sure done with this month and ready to move onto the next!

Unexpected Surgery

Let me start a few weeks back. Right after she had her surgery to get her G-Tube placed. (If you didn't read about the first surgery, you can read about it HERE)

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Right after the surgery was done, they took pictures from the inside of her belly of what the button looked like. It was placed good and looked great. We got home and I started doing pump feeds (feeds done over a longer period of time by a machine that pumps it into her stomach through the button). 

After about a week, I started trying "bolus gravity feeds". It's when you hook the child up to the tubing and on the other end, connect a big syringe (that holds 2oz), and fill it with the liquid you are using. You then just hold the syringe above the stomach and the gravity pulls the liquid into her stomach through the button.

She was doing great with those feeds so I started doing that since it was quicker. Well, as time went on I felt like the feeds were going slower and slower. At one point they stopped going by just using gravity so I attached the other part of the syringe and pushed the liquid into her stomach. I did it slowly and she didn't seem to mind it. Over time, she started to wine as I was doing it and as time went on, they turned into cries and they got louder. Last Saturday night I was feeding her and noticed that her button buddy was soaked. (Button buddy is a cotton pad that goes around button to catch anything that "oozes" out. See picture below. Picture is NOT Oaklynn.)

We removed the button buddy and I continued pushing the liquid into her. I noticed that it was dripping down the side of her stomach and something just didn't seem right. I stopped the feed and called the office after hours service. The surgeon on call called me back and told me it sounded like I was using the wrong tubing but assured me it was OK. Her post-OP appointment was on Monday so I thought it was find since we would be seeing the surgeon soon anyways.

Well on Monday we saw the surgeon and I told her that I can no longer rotate the button (you should rotate the button like you do an earing so that it doesn't form around the device). I told her that when I rotate it, it doesn't move but just goes right back to where it was before, almost like it is stuck. She said that is OK. I also told her that Oaklynn was fussy during feeds and she said it was OK since surgery was only a few weeks ago and she was probably still tender.

The next day I got Oaklynn up and gave her a bottle. I went to put the rest of the bottle she didn't drink in through her button and she started SCREAMING. I stopped and figured it was just sore. I tried it again later that day and again, she SCREAMED. I decided I would try to do a pump feed since you can have it go really slow. I thought that maybe I was just going too fast and she was still sore. The second the pump started pushing the smallest big of fluid into her tummy, she lost it. She was SCREAMING again. I then realized that something was wrong. I called the office and left a message. They called me back a few hours later and said we had to go to the ER. They would have to do an X-ray and even thought their office is still open, they can't do it in their office.

We left our place a 5pm, dropped little sister off at my parents, and went to the ER.
(below is  Oaklynn hanging out in the waiting room)

We got a room in triage at 6:30pm. A Dr. came in to talk to us and examine Oaklynn. She said they were going to order an x-ray. Around 8:15pm we got the x-ray done. They said it didn't look normal. The button wasn't in the correct spot and the fluid isn't going where it should be.
(kissed from daddy before the x-ray started)

We were taken back to our room and told that a surgeon was going to come talk to us about what was next.
(fell asleep while waiting for the surgeon)

Around 10pm someone walked in and said, "They are ready for Oaklynn in the OR." We looked at each other and said, they were sending someone to talk to us about it. We weren't told that we were getting surgery or that it was happening tonight. We were confused. The surgeon came in to talk to us about the procedure and what was happening. We decided to go through with it right then. She said that the longer we wait, Oaklynn could get very sick from it being in the wrong place. 

I guess it was placed right in the first place but over time, something happened where it got pulled out of it's correct position and started causing all these problems. They took Oaklynn from us and started the surgery around 11pm. At about 11:45pm they came to get us and let us know everything went great. They had to do the same surgery as before. Put her completly under, use the scope down her throat, wires down her throat and out her stomach . . . the whole thing (you can read about how it was done the first time HERE). They changed out the button and were able to use the same incision site. Everything went good and we would have to stay over night.

Oaklynn surprisingly did VERY well that night. She slept failry well and didn't cry too much. We were able to be discharged at 12:30pm the next afternoon. We are now home and she is resting and so far doing good.

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Before the first surgery, I was told how much easier the button would make things. I was waiting for when the "easier" part would happen for me. I was constantly second guessing our decision to get this G-tube because of how difficult I felt it was. I didn't understand how others thought that this was easy. She was always grumpy and crying and the site seemed to still hurt! I am now finally excited that this second surgery will now make things much easier for her.

Oaklynn has a high pain tolerance (as do all girls with Rett Syndrome). So when I told the doctors what was going on and they would ask if she was in pain when I would say that she is just uncomfortable and in a bit of pain, they took that as she is fine beucase if something was wrong, she would be in obvious pain. I guess from now on I need to remind the doctors that she has a high pain tolerance.

RS Awareness in October

October is Rett Syndrome Awareness Month. I will be posting a fact, picture, video... etc. honoring Oaklynn and educating everyone a little more about Rett Syndrome. My hope is that you will come to love these girls more and learn through each and every post!

Day 1:

I made this banner with pictures of other Rett girls. 

These are some of mine and Oaklynn's friends. 

We LOVE these girls and their mamas!

From left to right:

(top row)

Oaklynn - Arizona

Roxie - Arizona

McKenna - Illinois

Jillian - Massachusetts

Keira - Wisconsin

Norah - Wisconsin

(Bottom Row)

Stephanie - Arizona

Alyssa - Arizona

Carly - Tennessee

Melia - Canada

Brooklyn - Indiana

Brenna - Michigan

Cameron - Illinois

Day 2:

Day 3:

Today's awareness is a video about Rett Syndrome. It is free this month on Facebook. It features Julia Roberts, who is an advocate for Rett Syndrome... ENJOY!!

CLICK HERE TO WATCH VIDEO

Please feel free to share this video with others. It is very informative. Kinda old but still, good info!

Day 4:

Every 90 minutes a girl is born with Rett Syndrome.

That is 16 in one day

112 in one week

448 in one month

5,366 in one year

Day 5:


Day 6:

The proclamation stating that October is Rett Syndrome Awareness month in AZ!

Day 7:
All girls meet their milestones and are perfectly fine until about 8-18 months. They then stop doing things they once did! I will explain more about it and why that happens in a blog post on another awareness day.

Day 8:

Phase 2 has been approved. This is a very scary yet exciting times for all Rett families. We hope and pray that this truly is the "beginning of the end" for us.

Go here to read about it


Day 9:

The International Rett Syndrome Foundation is the largest and most comprehensive not-for-profit organization for parents, scientists, interested professionals and others concerned with Rett syndrome.

 Day 10:

Girls with Rett Syndrome are able to understand everything you say and everything you do. They hear you when you say, "hi" and see you when you wave. They have a hard time responding back correctly. Let me explain why . . .

Everyone has brain cells that die and get cleaned out by a protein in their brain and then they get new brain cells. Well, girls with Rett Syndrome are lacking that protein that cleans the brain of the dead brain cells. What happens is that the girls are born like any other child. They have all finger and toes and look perfect. They start developing normally. What we don't see is that as they are developing normally, their brain is accumulating the dead brain cells that aren't being cleaned out. All of the sudden the girls stop doing what they once could do. This is because of the dead brain cells. Their brain starts to get "foggy" with dead brain cells that their brain starts having a hard time sending signals to the rest of the body. So this is why over time, they stop doing things. Because the connection get's "foggy". So as time goes on, they start loosing the ability to do more and more because more brain cells are clogging the signal the brain is trying to send to the body.

This is also why girls with rett syndrome have a high pain tolerance. Signals sent to the rest of the body are sent by your nerves. Because of the dead brain cells, the nerves aren't firing off like yours and mine and the nerves are what tell us we are in pain.

Our girls with Rett Syndrome do not have mental retardation (although it may seem like that just by looking at them and how they look like they aren't paying attention). Their brain is all there and they do understand you and know what is going on. That is why I ask that people treat my daughter like any other 2 year old. Hold her hand (she may pull away but it's not because she doesn't want to hold your hand, she can't control her body). Talk to her (she may not make eye contact all the time, but that's because she can't always control her eyes). Play with her. Sing to her. You'll eventually notice that she reacts to you and what you are doing the best she can. You will come to realize just how much she understands you.

Just be patient with her (and other girls with Rett Syndrome). If you give them enough time to respond, her brain just may be able to send a signal every once and a while. She can do great things if you just give her a little time.

I know this isn't a medical explanation  This is just my way of explaining it, the way I understand it. Hopefully this makes sense and if anyone has any questions, please ask!

Day 11
Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.” Oaklynn's mutation is called "R168x"

Day 12
Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Day 13
TODAY the Blue Sky Girls around the world are hosting their second annual event to celebrate Rett Syndrome Awareness Month and the strength and will that girls with Rett Syndrome have shown to keep going no matter the odds and the difficulties they face every minute of their lives.

In Arizona, we will be climbing the stairs of the Arizona State Courthouse at 1501 W. Washington St. in Phoenix at 1:30pm. Climbing stairs is a symbolic gesture, because climbing takes you upward and forward even if it is difficult. We are completely aware that many girls might not be able to climb stairs but they can try and then get help. 

We need your help to make this a great awareness event. If you can attend, whether you have a loved one affected by Rett Syndrome or not, that helps us. We will have Miss USA Arizona and Miss USA Arizona Teen there to help suport our girls. We will also have local firefighters there to help our girls reach the top of the steps. There will also be a picnic following the event for anyone to attend.

Come support my Oaklynn and some other girls here in AZ who have Rett Syndrome!

Day 14
Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Day 15

See this post about the Blue Sky Girls Event.

Day 16
Girls with Rett Syndrome have screaming spells. It is for no apparent reason, they just scream. There is no set amount of time that they yell for, it always varies. As a parent you try to console your child and try to figure out what is wrong. After you've tried everything, you just realize that it's Rett Syndrome taking over.

Day 17
You know how when your child sleeps for a LONG time, you joke by saying, "Wow, is she/he breathing?". Well, sudden death while sleeping is VERY common in girls with Rett Syndrome. So every time we put her to sleep, we are constantly asking "is she breathing" and meaning it. Having to check on your child multiple times while sleeping to make sure they are still breathing is something parents to a Rett Syndrome child have to do. I love when she falls asleep, finally her body is able to relax and doesn't make her do things she doesn't want to do. But on the other hand, I hold my own breath every time I walk in to check on her. That's what Rett Syndrome does to our girls.

Day 18

Answering a question from a blog reader . . .

Question: Why is Rett Syndrome seen in females and not males?

Answer: Rett Syndrome is found on the X chromosome. Girls have 2, X chromosomes and boys have an X and a Y. Since girls have 2 X's, they are able to survive on the other X that hasn't been effected. Boys aren't able to survive on just their Y chromosome so boys DO get Rett Syndrome but almost all of them get miscarried, still born, or die shortly after birth. There are a few boys who have survived and have Rett Syndrome but they typically don't live long. The few boys who have been given the diagnosis of Rett Syndrome are either Klinefelter's Syndrome (xxy) or mosaic (some cells with normal MECP2 and some with mutated MECP2). Those with mosaic die early in life or are diagnosed with severe mental retardation.

Lets say that I had a still birth (or miscarriage) of a boy with Rett Syndrome. You wouldn't know it was because of Rett Syndrome because they are born looking like any other baby. It's in your genes so most boys that have it, never get diagnosed because they just assume there were complications with delivery when really, it was because he had Rett Syndrome.

I hope this makes sense!

Day 19
Rett syndrome is a developmental disorder. It is NOT a degenerative disorder.

Day 20
Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range or emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

Day 21
Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function and even chewing, swallowing and digestion.

Day 22
Rett Syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

Day 23
Sweet Bailey (sister to Emma who has Rett Syndrome) stayed silent for 24 hours to see what life was like in her sisters shoes and raise awareness for Rett Syndrome. You can read the article HERE.

Day 24
Rett syndrome is 1 of 4 diseases that primarily affects females.

Day 25
80% of those affected by Rett syndrome will experience at least one seizure in her life, and over 30% will have a really difficult time controlling them even with multiple medications and al

ternative approaches such as the vagus nerve stimulator or ketogenic diet. 

Day 26
Learn about Riley, a sweet girl in Louisiana who has Rett Syndrome.

Day 27
Some genetic mutations in the gene MECP2 result in short forms of the MeCP2 protein making it less functional. These types of mutations are called nonsense mutations and are found in over 30% of the RTT population. Dr. Carolyn Schanen of Nemours Biomedical Research and Dr. Jeff Neul of Baylor College of Medicine are teaming up for a pre-clinical study of two compounds that may suppress these nonsense mutations. Should they yield positive results, IRSF is excited that there may be new treatment to help a great number of girls.


Day 28
“The International Rett Syndrome Foundation has been an amazing force in advancing our understanding of Rett syndrome research over the last 25 years. One day, we will have a great treatment for these girls. “Research to Reality” is a really great way to capture our state of affairs with Rett syndrome. Research gave us the reality about how important this protein is for brain function.” – Dr. Monica Justice.

Day 29
Thank you Clint Black for helping to raise awareness. Please watch Clint Black's PSA. THANK YOU CLINT!

Day 30
Question: What is the greatest handicap in Rett Syndrome?
Answer: Apaxia (Dyspraxia). The inability or difficulty to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of RS. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RS to do what she wants to do.

Day 31
Picture yourself in her shoes.

Blue Sky Girls Event

On October 13th every year, the Blue Sky Girls around the world host their annual event to celebrate Rett Syndrome Awareness Month. We honor these girls and the strength and will that they have shown to keep going no matter the odds and difficulties they face every minute of their lives. We have the girls climb the stairs (or get carried up if they can't walk) as a symbolic gesture because climing takes you upward and forward even it if is difficult.This year was the second annual event and our first one we attended (as we didn't have this diagnosis or know about Rett Syndrome last year). 

In Arizona, we met at the Arizona State Courthouse where there was a big staircase. We had firefighters there helping to carry our girls (or their wheelchairs) up the stairs. We also had Miss Arizona USA and Miss Arizona Teen USA attend to meet our girls and help raise awareness. 

We started with a Rett mom talking about Rett syndrome and what it does to our girls. How our girls are trapped inside their bodies and just waiting for that cure to set them free. Then  Miss Arizona USA and Miss Arizona Teen USA presented us with the proclamation signed by the Arizona Governer stating that October is officially Rett Syndrome Awareness month in Arizona!

Then each girl was introduced one by one and they walk up the steps (or were carried). Some walked a few steps and then were carried the rest of the way (Oaklynn was one of those). There were 11 girls with Rett Syndrome there.

Once we were done walking the steps, we gave a round of applause to these amazing girls.

 We then all released our balloons into the air.

 Our little family after the event

 This was everyone who came to support Oaklynn.

 All of the girls and their parents

 Oaklynn started walking after the event. I put her down and she started initiating walking all on her own. It has been a while since she has done that and the first time she has done it with her AFO's on.

 Oaklynn with her Grandma and Grandpa 

(her daddy's mom and step dad).

THANK YOU to all who came to bring awareness to Rett Syndrome. This event will be every year in October so if you didn't make it out to this one, there is always next year. Mark your calendar and help us make the next event even bigger than this one!