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?
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.
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.