This is what it is like to live with Chromosome 19 p13.13 and p13.12 Deletions.

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Deletions of chromosome 19 p13, in any form, are rare. Due to this, little is known about their effects on the human body within the scientific community.

Because there’s so little understanding of the effects of these deletions within the scientific community, there’s even less understanding, awareness and support for those who experience them, within the broader community.

My son has two chromosome 19 deletions which are found on the cytogenetic band p13.13 and p13.12.

This makes him a genetic rarity.

But my son would be the first to tell you that being rare is no fun at all when it comes at such a high physical and emotional price.

So this post is aimed at raising awareness of chromosome 19 p13 deletions within the broader community by providing information about their symptoms and the impacts they have for those, who like my son, live with their effects every day.

From the few studies that have been conducted on individuals with chromosome 19 p13.13 deletions, geneticists have been able to accumulate a list of conditions and symptoms that arise as a consequence of these deletions.

Known symptoms and conditions include nystagmus, vertigo/extreme dizziness, ataxia psychomotor delay, intellectual delay, gastrointestinal abdominal pain, vomiting, hypotonia, dyspraxia, epilepsy, and other neurological symptoms and a wide range of developmental and speech delays.

To put this list of symptoms into some form of context, my son has all these conditions.

Several, like vertigo, nystagmus, ataxia, dyspraxia, and abdominal pain, he experiences on a daily basis

Others, such as Migraines, vomiting and other neurological symptoms, he experiences weekly or even monthly.

All of these conditions, with the exception of epilepsy, which ceased affecting his life at the age of 7 for no apparent reason, are expected to affect him for the rest of his life.

In other words, his chromosome 19 deletions create health conditions for him that will never go away.

Which is why it’s vitally important that our society as a whole begin to develop an understanding of the way in which these deletions impact on the lives of all those who carry them.

Yet, I have found, that despite being able to list his symptoms and provide verification of their existence, trying to get others to understand and support my son in his daily life, is another matter entirely.

So, in order to try and increase awareness and understanding, here’s my attempt at providing a few hopefully, easily relatable examples of what it’s like to live a life with chromosome 19 p13 deletions.

Okay, here we go.

Have you ever tried to watch a movie or a TV show when the image keeps jumping up and down on the screen?

It usually ends up making you feel like you have motion sickness, right?

So you either turn the movie off, or fix the tracking so that you can see it clearly.

But, what if it’s not the tracking on the screen that’s the problem but the inability of your own eyes to accurately track everything you see?

What then?

How would you turn your tracking problem off?

Well, you could try closing your eyes and choosing never to look at anything ever again.

Apart from that, there’s absolutely nothing what so ever you can do to try and turn your tracking problem off because although nystagmus affects the eyes, it’s actually a neurological condition.

So, short of wearing a blindfold, you’ll have to accept that no matter what you do, or how much you want it to stop, your life will always be flicking before your very eyes.

This is what it’s like for my son to live with vertical nystagmus.

His world quite literally jumps about on him.

On a bad day, his rapid eye movements cause him a great deal of pain and he’ll often press his fingertips into his eyes until they pop, just to try to relieve the sense of pressure and pain it causes him.

Moving on.

Have you ever had that awful sensation of ‘light headedness’ that you get sometimes when you stand up too quickly and the world seems to swim and spin beneath you?

You know, the kind of dizzyingly disorienting sensation that makes you have to stop what you are doing for a few minutes, close your eyes, and wait until the feeling passes before you can go about your day?

Well for my son, that feeling of dizzy, light headedness or vertigo never goes away.

So on any given day, his vision is impaired; he’s dizzy, feeling light-headed and perhaps just a bit nauseous.

Then there’s the ataxia. The inability to control fine and gross motor muscle coordination.

So now, if you’re trying to imagine what it’s like to be my son, – you can’t see straight, you’re dizzy, feeling light-headed, nauseous and you can’t control your limbs.

If you’ve imagined yourself experiencing all of those things, then you’ll now have some idea of how the first triad of conditions, listed as being symptoms of p13.13 deletions, affect my son every day of his life.

Now imagine how difficult the combination of these symptoms make carrying out, even the simplest of tasks, for him?

Some mornings his vertigo and ataxia are so extreme that he cannot even manage to coordinate his limbs well enough to feed himself.

Given this, maybe you can also begin to imagine how much of a challenge attending college is for him.

The amount of effort and determination required just to be able to walk, talk, navigate and participate in college classes, while feeling this way, is enormous.

Yet every day he says that he wants to go to college.

Even though he gets growled at by staff and laughed at by other students for having to lean against the walls just to get from class to class.

Can you imagine how it must feel for him to be growled at for doing the best that he can?

Can you imagine how it must feel to know that no matter how hard you try, sometimes you just can’t do what’s being asked of you by your teachers because your body simply won’t let allow your limbs to coordinate themselves enough to even pick up a pen, let alone write anything down?

Then imagine what it would feel like if, while experiencing all of these things , instead of being offered any form of compassion, understanding or support, you’re told to go and sit outside, alone, in the corridor, until you feel better?

Great, now perhaps you can imagine exactly how frustrated, confused and let down my son feels every time his teachers respond to his difficulties in this way.

Not only does he have to deal with all of his health conditions, he also has to deal with ridiculous levels of ignorance and intolerance, from those who are supposed to be supporting him.

Yet it’s not just his teachers who show him such a lack of compassion and support.

It surrounds him virtually everywhere he goes.

His classmates accuse him of “bunging it on” to try and get out of school work.

His friends get angry with him for being “dizzy” all the time and ruining their fun.

Strangers stare and glare at him as if he’s doing something criminally wrong whenever he can’t walk a straight line and has to hold my arm for support.

Yet worst of all for him, is the level of constant negation that he experiences at the hands of health care professionals, who know nothing at all about chromosome 19 deletions, let alone understand the severity of the migraines he experiences or comprehend just how draining it is for him to suffer constant abdominal pains, for which, in their ignorance, they can find no cause for.

He cannot understand why the doctors aren’t helping him.

He cannot understand why his eye doctor can’t find any reason for his eye pain, let alone treat it.

He cannot understand why he’s being told that they can’t find a reason for his abdominal pain, when he knows for a fact that his abdomen hurts.

Some days a lot.

He cannot understand why, when he has so many health conditions to contend with, he see’s other people, with lesser issues, getting the help, support, understanding and acknowledgement for their issues, when he gets none.

He gets upset when he see’s reports on TV about children with rare conditions because he wants to know why no one cares about him and his rare condition.

And I, for my part, have no answers to give him.

All I can do is console him and remind him that I am doing my best to help others understand his needs.

But I’m just one person and so far, I’m not making much of a dent in the wall of ignorance, which surrounds his condition.

I am doing my best but progress is slow.

I know that my son is growing ever so tired of constantly feeling like he’s the only one.

So maybe, just maybe, this will help, a little.

Thank you for taking the time to read this and if you or anyone that you love or know, has a chromosome 19 p13.13 or p13.12 deletion, then please feel free to make contact.

Mae

Sometimes, when you’re busy being a special needs mum, you need a gentle reminder……

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Sometimes, when you’re busy being a mum, you forget how keenly your words and actions impact on the lives of  your children.

Last night my lovely daughter reminded me of this in the nicest possible way.

You see, over the course of the last week , we’ve both come down with a truly horrible flu.

My daughter came down with it first and after two days of coughing and feeling utterly blue she woke me up in the middle of the night to tell me that her head felt like it was exploding on the inside.

Without thinking twice I jumped up out of bed to check her temperature and then gave her some juice and some paracetamol.

Once those few things were done I invited her to snuggle up with me in bed and promised her that I’d watch over her all night.

Not long after she’d settled into my bed she rolled over and said;

“Oh mother…. I do believe I may well be in my final hours”.

As dramatic as her words sounded, instead of denying her the right to speak her feelings by rushing in and trying to tell her that she was wrong, I once again reassured her that I would be watching over her all night long and then asked her if she’d like me to get her an icy pole to soothe her dry, sore throat.

She agreed to the icy pole immediately and not long after eating it, fell into a deep, sound sleep.

By the time the morning arrived I too had begun to come down with the same dreaded flu.

So we both went off to visit our local doctor who found that my lovely girl had developed an ear infection on top of the flu, which is why she’d felt like her head  was “exploding on the inside”.

As for me, well I’d already been in the throes of fighting  off a sinus infection, as well as catching the flu, so antibiotics and lots of rest were prescribed for both of us.

Later that night I developed a massive migraine as a side effect of the antibiotics.

In response to my migraine misery, not only did my daughter make a point of coming in and checking on me all through the night, but each and every time she came into my room she would ask me:

“What can I do to make you feel  better mum? Can I get you a glass of water? Would you like an icy pole? Do you want me to hold your hand?”

Each time she did this I thanked her for being so kind and thoughtful and each time she would say “It’s okay mum, I know how bad it feels when you’re head’s exploding on the inside.”

The next day, after the migraine had washed away, I once again experienced those same feelings of both extreme love and gratitude for the way my daughter had chosen to love and support me throughout my own night of “final hours”.

When I tried once again to thank her for being so wonderful, she looked at me in confusion and said;

“Mum, why do you keep thanking me? I was only doing  to you what you did for me when I felt like my head was exploding?”

Her words really made me stop and think, not only about the importance of the way I had responded to her when she had been feeling so ill, but the importance of the ways that I respond to her on a daily basis and how all of the small kindnesses that I shower her with are now coming out in her personality, despite the fact that many believe that children like my daughter are incapable of showing  empathy towards others.

You see, my lovely daughter has High Functioning Autism or Asperger’s Syndrome and many mistakenly  think that children and adults with HFA/AS aren’t able to either experience or express empathy for the suffering of others.

Well, I’m here to tell you that my daughter and many like her, can and do experience empathy towards others.

Especially when they grow up being surrounded by both the benefits and the acknowledgement of having empathy shown towards the unique ways in which they experience every aspect of their lives.

So even though sometimes, when you’re busy being a special needs  mum  and you forget just how keenly you’re words and actions impact on the lives of your children, you may just discover that your children will find their own unique ways to remind you of just how important your words and actions are to them.

And hopefully you too will experience this reminder in the nicest of all possible ways.

 

New Autism Spectrum Australia report shows teens on spectrum struggle at school – written by Sue Dunlevy

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Teenagers with autism who are being bullied and discriminated against, have difficulty paying attention in class and feel lonely.

The first ever study to ask high functioning teenage autism sufferers about their own experience with their disability has found less than half the students had good friends.

The study found more than half the students needed support for bullying and discrimination and that two thirds felt lonely and needed help managing stress.

Three in four said they needed more help understanding teachers in the classroom and managing their homework and concentration.

Autism Spectrum Australia surveyed 100 people aged 12-17 with autism and found a shortage of coordinated, appropriate and affordable support services.

Lead researcher Dr Debra Costley said the students in the study had Asperger’s syndrome, were high functioning and had high IQs but had problems with social interaction.

“Their disability is very hard to see,” she said.

At school their peers honed in on their weaknesses such as sensitivity to noise and crowds, Dr Costley said.

One boy was struggling with his lessons because between each class he had to visit his locker which was on the bottom row.

“He had other kids standing over his head banging the doors and found it very stressful between lessons,’ she said.

The problem was solved by moving his locker to the top row.

Only 54 per cent of autism sufferers with an IQ over 70 are in paid employment and the study says this will continue unless more support is given to students while they are still at school.

Not-for-profit service provider Autism Spectrum Australia wants more funding to train teachers and schools how to deal with students with autism.

“There is plenty of evidence that programs supporting adolescents through the transition from school into the workforce provide tangible benefits for individuals with Autism Spectrum Disorder, the service group says.

There should also be peer group education to reduce bullying, Dr Costley says..

More than 230,000 Australians have autism – a lifelong disability that makes it difficult for sufferers to engage in social interaction, communicate and leaves them with repetitive interests and behaviours.

Article sourced directly from http://www.dailytelegraph.com.au/news/national/new-autism-spectrum-australia-report-shows-teens-on-spectrum-struggle-at-school/story-fni0xqrc-1226735020996

 

The Onus of Acceptance – Written by Jean Winegardner

“I recently got an email pitch from a company with a social skills product that claimed the product, “will enable [children with special needs] to be accepted by their peers throughout all aspects of their lives.”

I’m not actually sure what the product was because that sentence stopped me in my tracks.

“Be accepted.” I can’t stop thinking about that. “…will enable them to be accepted by their peers…”

I don’t even remember what the pitch was for because it made me so upset. Why the passive structure on that sentence? Why is the onus on the disabled to be accepted? Why is it our job to make you accept us?

Shouldn’t the real issue here be how to get the typical children to accept special needs kids?

I look at my beautiful, perfect, weirdo autistic son. He is not like his peers. He is also not always accepted. It would probably be easier in the long run for him to learn to “be accepted.”

Yet I look at him and the most damaging thing I can imagine saying to him is, “Maybe you should act like everyone else so kids like you more.”

Yes, I’ve put my son in social skills groups. Yes, I teach him about neurotypical society. Yes, I teach him how to navigate the world as it stands. But no, I do not teach him that he has to change so that the other kids will accept him. I tell him that I love him exactly the way he is. If kids are mean to him, I tell him that the problem is with them—not him.

I am a perfect example of someone who has adjusted her behavior to be accepted. At this point it is almost unconscious. I don’t know that it has been terribly damaging to do that. But it has been exhausting. And it is unfair.

I hear people making the argument all the time that people have to work to be accepted. I hear parents of typical kids, parents of autistic kids, and neuro-typical and neuro-diverse people alike say that you have to change yourself to fit in. To a degree, they are right. Most people work to get along with other people. We dress a certain way in business environments. We tend to alter our behavior based on the situation in which we find ourselves.

But these ways of fitting in and the fact that everyone does them doesn’t change the fact that society asks autistic kids and adults to change most of their behaviors and to deny their natural instincts for the purpose of becoming more palatable to the neuro-majority. Society isn’t asking autistic people to make the same adjustments as everyone else. Society is asking autistic people to suppress who they are almost all of the time.

Asking someone to change who they are to be accepted isn’t okay. It’s like asking a woman to learn not to be raped. It’s like asking a child to learn not to be abused. It’s like asking a victim to learn not to be bullied. I know those analogies aren’t exactly right, but that is what it feels like. If you want something to happen, you have to teach the actor—not the recipient.

I am happy that I hear more and more parents defending their kids’ rights to be who they are, society be damned, but I know that I also hear a lot of parents telling their kids that it is their job to fit in. I wonder if all parents—of both typical and autistic kids—stopped trying to help their kids fit in and just told them to be who they are—consequences be damned—if maybe those consequences would disappear.

Maybe the time has come to stop teaching our autistic kids to mold themselves into what society wants them to be. Maybe the answer isn’t to change autistic people until we are palatable to the world at large. Maybe we don’t need to keep working to “be accepted.”

Maybe the answer is to put the onus on everyone else to accept us.”

 Article sourced directly from http://autismwomensnetwork.org/node/1634

 

How Important Do You Think Parental Advocacy Is To Your Child’s Education?

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Sara Ryan and Katherine Runswick-Cole, in their 2009 UK study into the ways mothers of autistic children experience advocating for their children, argue that parental experiences of advocacy are being largely ignored within society’s institutions. 

Ryan and Runswick-Cole’s study of 36 mothers of autistic children found that mothers displayed a heightened degree of advocacy for their children.

They further suggest that the level of competency with which mothers advocate for their children, has been created through the necessity of having to “fight for their children’s rights within the education system” (Ryan and Runswick-Cole, 2009:43).

For this reason they draw attention to the fact that for parents of autistic children, education is often a problematic experience which creates the need for parents to advocate on behalf of their children (Ryan & Runswick- Cole, 2009:43). 

Yet despite this, the high level of competency that parents of disabled children demonstrate on behalf of their children has gone vastly unrecognized or ignored, by both researchers and the broader community alike.

As such, this lack of understanding and recognition, as to how parents navigate and experience their roles as advocates within educational inclusion, serves to further negate any true appreciation of the importance of parental advocates.

 As a parent do you feel that being an advocate on behalf of your child is important?

As an advocate are your opinions acknowledged and valued or pushed aside and ignored?

 

Why Are Children with Disabilities Still Being Bullied and Marginalized within Education?

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“Many disabled children fail to reach their full potential because they continue to be marginalized in schools, health and social care, according to new research funded by the Economic and Social Research Council (ESRC).

“We found that disabled children often experience discrimination, exclusion and even violence,” say Professor Dan Goodley and Dr Katherine Runswick-Cole, who implemented the study at the Manchester Metropolitan University. “The biggest barriers they meet are the attitudes of other people and widespread forms of institutional discrimination.”

“Disabled children are seldom allowed to play and act like other children because of concerns about their ‘leaky and unruly’ bodies. But our study shows that many children who don’t fit the narrow definition of ‘normal’ have untapped reserves of potential and high aspirations which can be fulfilled when their families receive effective support. There are also many amazing families who should be celebrated for the way they fight for their children.” continues Professor Goodley.

The aim of the Does Every Child Matter, post Blair? project was to find out what life is like for disabled children and young people in the context of policy changes set in motion by the New Labour Government after 1997. The Aiming High for Disabled Children policy agenda was intended to enable disabled children to be ‘healthy’, ‘stay safe’, ‘enjoy and achieve’, ‘make a positive contribution’ and ‘achieve economic well-being’.

The findings, which are based on a series of interviews with disabled children and their families, reveal numerous barriers to these goals, for example:

  • Disabled children are often perceived by educational and care professionals as “lacking” and as failing to fit in with the image of ‘normal’;
  • Families who do not match the norm are frequently excluded from friendships, education and work;
  • The support system is complicated and there are gaps in provision, particularly during the transition to adulthood;
  • Physical access and transport barriers to sport and leisure activities result in segregation, while participation in art and creative activities is limited;
  • Widespread discriminatory attitudes threaten to create a culture of bullying;
  • Families of children with life-limiting/threatening impairments often experience isolation and poverty

The researchers call for a change of attitude towards disability so that diversity is not only valued, but promoted. “There is an ‘epidemic’ of labelling children as disabled,” Professor Goodley and Dr Runswick-Cole warn. “Parents are repeatedly under pressure to talk about what their children can’t do in order to access services and support, but sometimes the label can obscure the individual. Families should be asked what support their child requires, not what is the ‘matter’ with him or her.”

Their report recommends that policy should prioritize enabling disabled children to break down barriers by supporting their participation in education, the arts, leisure and their communities and by meeting their communication requirements. “We need to re-think the culture of individualism and performance which pushes disabled children out” continue the researchers. “Pressures on schools are getting worse. We found a case where parents of non-disabled children petitioned to exclude a disabled child. What does this say about the meaning of education and community?”

The study found that bullying is often accepted as inevitable when disabled children are perceived as vulnerable. There were several layers of violence, from manhandling in school to psychological bullying, which often goes unnoticed by adults. Some children do however stand up to bullies and refuse to be limited by labels that are imposed upon them.

One young person insisted on attending Brownies meetings alone, despite health and safety rules that required her mother to accompany her. “Kids seem to enjoy challenging people’s expectations about their limitations,” the researchers commented.”

Originally sourced from http://www.esrc.ac.uk/news-and-events/press-releases/18605/disabled-children-do-matter.aspx