Amanda's Story

Being a Kabuki Syndrome Sibling

Having a Kabuki Syndrome Sibling can be super tough. Do you have a sibling? Would you like your sibling to die? Of course you don’t. I know what you are thinking worst case in scenario? Wrong! This is just one little thing that could or would happen. Kabuki Syndrome is a very serious thing too. It’s hard for the sibling, parent, the victim, and the entire family. It’s super stressful for the sibling of the victim. That sibling now has to do a lot on their own. They don’t get a lot of attention and they are ignored a little because the parent has to pay more attention to the victim that is sick most of the time. It’s not a fun thing. Either way it goes you do not want Kabuki Syndrome. Kabuki Syndrome… G-tube to being sick to almost dying, its tough.

I know what you are wondering, “What is Kabuki Syndrome?” Kabuki Syndrome is a syndrome or sickness that can hurt or make your sibling different. It is much like asthma. Except when your sibling gets it they have it and they can’t get rid of it. Although they may get better at controlling their disabilities they will still have it.  Your sibling isn’t normal though. They’re special. They can do things that you can’t like bend their knee backwards.  It may be hard but no matter what you have right now is what you’ve got and after a while you will like what you have.

Kabuki Syndrome is life threatening. For instance I have a sister that has Kabuki Syndrome and when she was born she couldn’t suck to feed herself. So for a while my sister was starving to death. Then they installed something called a G-Tube. A G-Tube is a tube installed into your stomach so you can be fed. Thankfully that G-Tube saved my sister’s life. That wasn’t the only thing that helped save my sister’s life though. God helped a lot too. I thank God all the time for saving my sister. My sister was the best thing that happened to our family. She changed us in a good way. God gave her to us for a reason. It was a tough time. My sister could have died any minute. It was stressful too. There was a very weird feeling inside when I heard that too. It was sad, angry, and confused. The feeling is hard to describe. But now I am grateful to have my sister.

Kabuki Syndrome has physical affects too. Their knee or most other joints can bend backwards. Or when they walk they waddle like a penguin. Fun to watch but when you realize what’s going on nothing is much fun. They can’t really run either. One way or another, it’s stressful. Even when you are bigger anything can upset you now because when you were so worried and so scared and crying all the time, it has an emotional scar on you. It traumatized you.

Although Kabuki Syndrome isn’t the toughest thing around, it’s still hard. The victim has the hardest time of all. It’s hard for the whole family. If I could go back in time to pick a different sibling I wouldn’t. She has left a scar on me but she changed me in a good way. She gave me a gift. I gave her a gift. We will always be sisters and it may be tough but it’s a little fun. Stressed out or being scared or crying, your sibling is worth it. Who knows you and your sibling might change the world someday. Just be sure to love them, your family, and yourself because love will help you and your sibling. Although the very best thing to do is to believe that everything will turn out to be ok.

A 2 minute oral presentation written by Holly. The presentation is entitled "My Brother Zac".

I love my brother with all my heart. Every time I hear people call the intellectually challenged ‘retarded’ or use it as a slang word.  Each time I see people stare and make faces at my brother. I think of him and how the people in this world see him and it breaks my heart.  I know that all the love I, and everyone who knows him, has for him won’t change how people regard him, and that is tragic.

When I look at my little brother and notice how the sun radiates in his hair, how his eyes are always sparkling with happiness, how he will always tell you he loves you, just to see you light up from knowing that, it makes it hard for me to believe that other people could see him so differently.  People walking by would look at Zachary and notice the small scar above his lip.  The way his ears stick out slightly.  How he walks and how he has to cling to me when he goes up or down stairs.  The way he will talk quietly to himself or even sing because he simply doesn’t care what anyone thinks.  These things that hardly matter, define him to the rest of the world, and that isn't right.

My little brother Zachary has a rare genetic disorder called Kabuki Syndrome.  It is recognizable by the unusual facial features which include wide eyes with arched interrupted eyebrows and large and low set ears.  Some children have an intellectual disability which may vary from mild to sever.  Many abnormalities are sometimes seen, which include cleft lip and palate, cardiac abnormalities, urogenital and kidney problems, intestinal problems, immune abnormalities, ear infections and hearing loss.

I am reminded every day of my life how much society doesn’t understand people who are different.  Not only is there racial discrimination and such in the world, but everybody here is guilty of another kind of intolerance.  I have a feeling you know what I’m talking about.  Intolerance of people who are different.

I look around me and I’m sadder still.  I know it is a time for a change, but do you?  Even after this presentation I guarantee that some of you will leave and use the word ‘retard’.  You will still stare and regard people who are intellectually or physically challenged as you always have.  For three years I have delivered speeches in English hoping that I might make a small difference, maybe even to one person, and I have always been disappointed.  As I listen to your conversations, even the conversations people have with me, you still refer to each other as ‘retarded’.  You make actions to mime people who are intellectually challenged.  No matter how much offense you are meaning for the person you are talking to, it always offends me more.  How can the person I love so much, who loves the world and everyone in it so completely, be so misunderstood?  Especially by people who I think know better.

As I was writing this presentation I walked out of my room and looked at my brother sitting at the table slowly reading one of his school books.  I noticed the way a smile was pulling at the corners of his mouth as he enjoyed the simplicity of reading by himself.  I looked at his little hands gripping the pages of the books tightly; concentrating with all his might to do well.  I saw his legs swinging off the edge of the chair slowly and methodically.  I thought to myself, how can this small person, worth the world to me and my family, be seen by everyone else as strange, or different, or ‘retarded’?

By Holly (15 years old)  big sister to Zachary.

A 3 minute oral presentation written by Holly. The subject for the presentation was "What the world needs now, is....." - Holly chose tolerance.

What do you do when you see people with special needs? Do you quickly look away? Do you make eye contact? Do you avoid them or do you say hi?
What the world needs now: is an understanding of people with special needs.

What is SPECIAL NEEDS?

Many people associate special needs with someone who is in a wheelchair, or who is blind or deaf.Some people believe that a person with special needs is totally different and therefore would need to be treated differently.People with special needs come in a variety of shapes, sizes and cultures - just as we all do and the only thing that separates a person with special needs is that, for one reason or another, they are unable to do certain things in the same way as most of the other people in society take for granted.

A person's disability is always specific to that person.
The reason I chose to talk about people that have special needs is because I have a brother with a rare genetic syndrome.

My brother has KABUKI SYNDROME. He was diagnosed when he was six months old. Kabuki Syndrome was first diagnosed by doctors in Japan in the 80’s, so it is a relatively new syndrome, and there aren’t many people diagnosed in Australia; only about 40 so far.

Some of the features that can occur are: Unusual facial features, like large ears and unusual looking eyes, children with KABUKI SYNDROME are very small; most have an intellectual disability which is different in each person. Other problems that can occur are a cleft lip and palate, heart deformities, and physical problems that can cause difficulties with walking.My brother was born very sick and spent most of the first year of his life in hospital or being nursed at home, for the first 5 years of his life he had countless operations including major heart surgery and lots of craniofacial surgery.

These days now that my brother is nine, most of his medical problems are better, he is still physically challenged but can walk, run, catch a ball and hold a pencil.He attends a mainstream school and is about a year behind.

People that know my brother treat him really well, but when we go shopping or out in public there are still people that stare. When I have the chance to explain my brothers disabilities to strangers they seem to want to learn more and treat him well, it seems to me it’s just those without any UNDERSTANDING OF PEOPLE WITH SPECIAL NEEDS have the problem and do things like stare or avoid them.

That is why I chose to tell this group about my brother –  I have a little brother who is different to most people because he was born with challenges that most of us don’t have.  He is exactly the same as the rest of us because he needs to be respected and loved. People with SPECIAL NEEDS need you to understand them. So the next time you meet or see someone who is challenged don’t feel uncomfortable, they are just like us in all the important ways.

What the world needs now is an understanding of those who have special needs.
By Holly (13 years old)  big sister to Zachary.

Holly's Story