Monday, October 15, 2012

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!!

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.

1 comment:

charity said...

i check on lexi alot even though she is 4. but i think thats because im afraid if i dont she will have a seizure at night or she will stop breathing