I've been gone for, like, a week without telling anybody where I went (sorry, Hawkman!). I didn't have time to explain I'd be gone before it was actually time to go. Now, why am I telling you about this? Why, when we have lives outside of Notebook.ai, and we aren't obligated to explain anything to anyone?
'Cause I attended a very unique, very special conference. I'd like to tell you guys about it. :)
This is gonna be fun. XD
Yo?
:O
The conference I attended was for a rare genetic disorder named Aicardi Syndrome.
I know that at least one or two of you have seen the picture I posted on a chat, a picture of my lil' sis. :D Cute as a button.
She has Aicardi Syndrome.
What Is Aicardi Syndrome?
Aicardi syndrome is a rare genetic disorder that interferes with the formation of the corpus callosum, which is the structure that connects the two sides of the brain. In people with Aicardi syndrome, the corpus callosum is either partially or completely missing. The disorder occurs almost exclusively in newborn girls. Medical researchers don’t believe the disorder is passed from the parents to their child.
The exact cause of Aicardi syndrome isn’t known. However, it’s thought to be caused by a first-time mutation in the child’s genes. Since the disorder primarily affects females, researchers believe the mutation specifically occurs on the X chromosome, which is one of the two sex chromosomes. Females have two X chromosomes. Males typically have one X chromosome and one Y chromosome.
People with Aicardi syndrome often have the following:
Not all people with Aicardi syndrome have these features. However, some people may display additional abnormalities in the brain, eyes, and face. The severity of symptoms varies significantly from one person to another. Some have very severe seizures and may not survive past childhood, while others have milder symptoms and may live well into adulthood.
What Are the Symptoms of Aicardi Syndrome?
Aicardi syndrome symptoms usually appear in babies between the ages of 2 and 5 months old. The child may begin jerking or having infantile spasms, a type of seizure that occurs in infants. These seizures can develop into epilepsy later in life. The child may also develop yellowish spots on their eyes. Lesions on the retina, which is the light-sensitive layer of tissue at the back of the eye, cause these spots.
Other symptoms of Aicardi syndrome include:
Additional symptoms of Aicardi syndrome include rib and spine abnormalities, such as scoliosis. Children with this disorder may also have unusual facial features, such as a flatter nose, larger ears, or a smaller space between the upper lip and nose. Since Aicardi syndrome can result in poorly developed eyes, children may experience impaired vision or blindness.
Researchers have also found that the brains of children with Aicardi syndrome may have fewer folds and grooves than a normal brain. Fluid-filled cysts may also be present in the brain.
How Is Aicardi Syndrome Treated?
There’s no cure for Aicardi syndrome at this time. However, some symptoms can be managed with treatment. The most common method of treatment involves controlling the seizures and spasms brought on by the disorder. There are also programs available to help both children and their parents cope with the intellectual disabilities and developmental delays that usually accompany Aicardi syndrome. The child’s doctor will likely refer the parents to a pediatric neurologist for further evaluation. A pediatric neurologist is a doctor who specializes in treating nervous system disorders in children. They can help the child with long-term management of Aicardi syndrome. Doctors in these other fields may also be may also be consulted based on the symptoms and severity of the syndrome:
What Is the Outlook for People with Aicardi Syndrome?
Children with Aicardi syndrome tend to have a shorter lifespan, but the outlook greatly depends on the intensity of their symptoms. Nearly all children with the disorder have some type of intellectual disability or developmental delay.
However, other symptoms can vary significantly depending on the person. Some children with Aicardi syndrome can speak in short sentences and walk by themselves. Others may need help walking and performing other daily tasks. In these cases, children will likely need a caretaker for the rest of their lives. Parents of Aicardi children should talk to their child’s doctor to learn more about their child’s particular outlook.
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Now, after reading all this scientific, dull stuff, you'd probably think that Aicardi Syndrome is just another crazy sickness or disorder. Like autism, or aspringers, or something like that.
But these girls are different, each in their own special way.
The most common trait among Aicardi girls is an awesome sense of humor. Some of them are incapable of performing simple, everyday facial expressions, but a majority of them love to giggle, smile, and laugh. Parents and siblings attending the conference recalled hilarious stories involving their daughters or sisters. During a photo shoot, some of the more mobile girls would try to escape, no doubt with plans for high adventure. XD
And if you smiled at one of them, they would smile back.
I made this chat to help raise aware for this. Having a girl with this syndrome takes a hard toll on the parents and family, as well as on the girls themselves. But through these hardships, each family learns lessons you can't learn anywhere else. And everyone at the conference was very friendly, very social, and willing to help if a girl was having a hard day. It was like attending a family reunion with hundreds of long-lost family members.
Most of these girls can be found on FaceBook. There are also a few websites that go into further detail on Aicardi Syndrome.
Okay, that's all I've got. XD Unless anyone has questions?
I feel proud that I know what a corpus callosum is.
Dude, I hear my mom say those words all the time, and I STILL don't know what it means. XD
Also, your profile picture is adorable :D
Aw thanks! :3
Sly, Turtle, and I match! :3
Awww :D
Here's my sister yaaaaay :D
Awww, she's so cute!
Everybody absolutely loved her, she's such a doll XD
Seeing as I don't have Facebook, and I can't access photos on there without an account, I can't direct you guys to the other girls :(
My sister has epilepsy! It's cool to find other people with siblings who have disabilities. It's like a little club. If you need any support, I'm here for you
:D Thanks!
Here's a little story
Me and my family were coming back from the conference yesterday. Our party consisted of mom, dad, one of my little brothers, Emalie, and myself. Us younger three were in the backseat, with Emmy between me and my brother.
After driving for a few hours, my brother and I discovered something. If I said to Emalie, "Okay, ready…", she would raise the foot closest to my brother. "Aim, fire!" would result in her actually kicking my brother. Hilarity ensued when we found out she would do the same to me if my brother told her to.
We were having an absolute blast, and our mom and dad were also cracking up, even before they knew what was going on, just because of how hard we were laughing.
awe your sisters adorable
Why, thank you! :D
:D
Here's another one
Someone made a little paper booklet describing the Aicardi girls and their families. Each family offered information about themselves and the siblings. They were also asked to describe their girl with one word.
Most of the families chose Happy. A few chose Teacher, and Angel.
Here's the description for my family and Emmy.
Emalie
Hahaha Moose thats great XD
Moose is an inside joke. When I saw that in the booklet, I just about fell off the couch, I was laughing so hard.
Haha inside jokes are the best
Hey @Skrull_Empire, what's your sister like?
Well, she has pretty severe epilepsy, and she is in a wheelchair and can't speak due to some other disabilities. She's also had two brain surgeries. We have her seizures under better control, but she still has them. She still is super happy and loving though :)