Wednesday, 22 October 2014

Genetics 101

OK, so a few people have expressed an interest in the exact base level nature of B’s disorder, right down to what precisely it is that causes him to be so different from all of us neurotypicals. Neuro=to do with brain; typical=usual, regular, common- sorry folks, in the world of genetics you and I are pretty damn boring. Let’s picture an ice-cream sundae. Proportionately us neurotypicals would be the ice cream and the special atypical a=not, typical=see above lovelies the sprinkles. So first up, people with B’s condition are RARE. The prevalence is estimated to be around one in thirty or forty thousand. So, for every 40,000 babies born, 1 might pop out like B. To give you an idea in real terms, Down Syndrome occurs once in every thousand births, DiGeorge (considered a relatively rare chromosome disorder) occurs once in every four thousand births. You can see where I’m going with this. If I asked you how much information you know about cats you would probably reel off ten facts without an issue. Furry, annoying, crap all over my flowerbeds, come in a range of colours, make nasty screeching noises when they get down and dirty etc. Let’s try the same thing with the Indonesian civet. Unless you are a closet junior bake off fanatic (I’m out and I’m proud!) or you happen to own an exclusive café company, you’ll likely have no idea what I’m talking about. The civet is a cat-like creature famous for it’s expensive coffee producing shit. Yes, literal brown stinking shit. It eats coffee beans and they reappear hours later, magically transformed into the world’s most expensive coffee, cunningly disguised in the form of plain old shite. Gives a whole new meaning to the world’s crappiest cup of coffee. Anyway, I digress. My point is the rarer something is, the less we tend to know about it. Rarity and uniqueness in this context sucks.

OK, second up, B’s condition is a clinically identifiable syndrome. Clinically identifiable=recognisable by defined and consistent medical observations, syndrome=a combination of common symptoms specific to and indicative of a certain medical issue. Duplication 15q syndrome is suspected when an individual exhibits certain characteristics universal to the syndrome, and confirmed with a specific blood test to determine karyotype. Karyotype=the number and appearance of chromosomes in the nucleus in a cell.

Individuals with dup15q syndrome have a different genetic make-up than you and me. We have 46 chromosomes chromosomes=threadlike structures made from DNA in each cell in our body. They are arranged in 23 pairs, and on that sweet, unforgettable night however many years ago your dad generously donated the yin of each pair, and your mum matched his generosity and donated the counterpart yang. Ta-da! Nine months on and a baby human emerged, complete with 46 chromosomes in each little building block cell. Cell=the smallest structural unit of a living thing.
Sometimes, this amazing process of mixing and matching goes a little bit haywire. There is a lot of speculation on why this happens, but currently every idea remains firmly in the theory camp and has yet to gather evidence to cross that bridge into fact territory. What we do know though, is it occasionally gets screwed up.  In the case of B his chromosome number 15 from me decided to go the extra mile and copy itself. More specifically, an area of chromosome 15 copied itself 4 times. ‘Dup’ is a bit of a misnomer here, but it infers the idea of duplication, or too much. So dup=too much, 15=the chromosome that has too much material, syndrome=see above. Don’t worry too much about the q part; it just refers to the specific location on chromosome 15 where the copied bit originated from. I hope I haven’t lost you yet, bear with me!

So every individual diagnosed with duplication15q syndrome shares one thing in common- they all have too much chromosome 15 material floating around in their cells. Here’s the bit that gets even more complicated. The amount of material that’s copied loosely correlates with the severity of that particular individual’s symptoms. Loosely meaning it doesn’t always work out that way. If you think of chromosome 15 as a toy train track with lots of different segments, there is one particular segment, which seems to be more unstable than the others. More unpredictable. It’s kinda the anarchist rebel headquarters of chromosome 15. This region contains genes genes: segments of a chromosome that give instructions to control physical features of that person; eye colour, brain development, hair thickness etc. which seemingly have a big impact on a person if they are messed with. It even has it’s own name since it’s so infamous in the genetics world. The PWACR. How very rock n’ roll. In dup15q people this rebel section (the PWACR) has gone it’s own sweet way and copied itself; sometimes once, sometimes twice, sometimes multiple times and depending on how it was feeling at the time did it one of two ways. Either it made a separate impressive new mini-chromosome, complete with pretty mirror image upside down copying, or it decided to stay within the original chromosome and try and sneak an extra copy in unnoticed. It seems to like doing the first pretty thing more often. When an extra copy is made within the existing chromosome it tends to be a carbon copy of the rebel section without all the upside down and mirror image nonsense. So people with the condition can have either 47 chromosomes (with the impressive pretty extra rebel section making up the 47th) or they can have 46 (with a sneaky extra rebel section snuck in number 15).

But you know us Parrs; we don’t do things by halves. We had to go one step further, and this is no exception! B has a combination of both of the above, never before recorded in the UK, a stand alone first on the British genetics database. Apparently his rebel headquarters was extremely indecisive on the whole section copying issue, and ended up copying structurally as an extra chromosome (the pretty mirror image upside down thing) but remaining within his original chromosome 15. We just can’t help but be different- it’s in the genes. Do you see what I did there? Moving swiftly on…

What does all this mean? Well, in all honesty we are a long way from fully knowing. What we do know though is that the extra material messes up the instructions from the genes, creating havoc in the growth and development of a person right from that initial yin-yang moment. The classic symptoms of the syndrome are low muscle tone (floppiness), sensory integration disorder, autism or autistic tendencies, certain physical features (all our kiddos are incredibly gorgeous), epilepsy, attention deficit issues, lack of speech or communication problems, and learning difficulties. Some kids are more severely affected than others, and it’s not always easy finding universally appropriate interventions because a thousand other factors come into play too- what type of personality a child is, or how much money their parents have to throw at new therapies for example. One thing that is abundantly clear; as parents we have had to become experts on our children. We’ve learned to communicate without need for words, to understand the subtle intonations in our child’s frustrated behaviour, to differentiate a seizure from a stim, to believe in ourselves as the specialist on our child. And when the whole world seems oblivious, that shit is pretty damn hard.


I’m hoping by writing this, maybe a little corner of the world will be a little less oblivious, and accept people regardless of their disability. No amount of therapy or medicine will ever be able to ‘fix’ B; his condition is inseparable from who he is. That extra genetic material is in every single cell of his body. The seizures, they suck. The frustration of him not being able to communicate? I’d take that away in an instant if I could, along with all the other crap that causes life to be so much harder than it should be. But I don’t think he needs fixing. The typical worldview on disability? Now that could do with some definite attention.

Friday, 5 September 2014

If Only

Right now I’m taking a break from the copious amount of admin I seem to be slowly drowning in and coming up for air via the snorkel of this blog.

First up, I’m proud to say WE SURVIVED! By survived I mean we got through the full 60,480 minutes of the school holidays in one piece; alive, breathing, and relatively unscathed. I wouldn’t go as far as to say we got through it well, that would be an altogether different scenario. The reality is the matrix of destiny (aka the calendar) that dictated who was where at what time and for how long left its inevitable imprint on our uber tolerant children. Like a game of human Tetris any deviation from the perfectly tessellating plan resulted in it all spiralling out of control pretty quickly. D and O were fairly amenable, but BH did not take kindly to being shunted about like a heavy piece of luggage. Holidays for us do not equal lazy lounging days or fun spontaneous day trips. They involve a carefully executed master plan of action, involving a juggling act with lots of lovely carers to ensure B’s 1:1 support needs are met at all times. Mostly it isn’t all that fun, and it leaves a constant bitter taste in my mouth that I am failing someone somewhere along the line, which in reality, I probably am.

I can’t begin to explain the frustration of knowing the parent you are capable of being versus the parent you actually are due to the shitness of your circumstance. But then, we all have our limitations. I mean, we could all be these perfect parents if only… if only we had more money, or if only we had more family support, or if only our kids were less like little shits, or if <insert personally appropriate situation here>. So why do we beat ourselves up by conjuring up the mythical if-only version of ourselves and pinning it firmly to the fridge of life where it perpetually haunts us, reminding us of the shiny life and kids we might have had. If only.

I call bullshit on the if-onlys. The life we have is the life we have, warts and all. Now some of my friends would get all philosophical at this point and tell me that everything happens for a reason, including the nasty bits of existence. I hate to be the person to shake it up and cause controversy (gasp) but I call bullshit on that too. Here’s why.

I recently read a FB post from a dear friend who also has a child with B’s condition. In it she detailed the differences in the detail of a typical child returning to school after the long summer break, and one of our kids returning. It honestly broke my heart, mostly because her boy also struggles with seizures like B, but also because key times like this (back to school, Christmas, birthdays) act as a spotlight on that mythic if-only fridge picture.
Our morning goes a bit like this; we still have to dress our kids for school because they can’t do it independently. We have to tally the number of seizures our kids have each day. Let me say that again, we have to tally the number of seizures B has because it is the only feasible way of recording the vast numbers he experiences. We have to feed our kids breakfast because they can’t do it themselves. We start the day with no clue as to what is going through our kids heads, and we end the day no closer to any understanding. We watch our kids seize multiple times before the school bus arrives, always watching carefully to decide if we need to take any further action. We play medication Russian Roulette religiously every morning. We constantly shun our other children because we are too busy preparing the paraphernalia around our special kid; writing in the home-school communication book, observing and recording behaviour, gathering the meds, change bag, and anything else needed for the day. We (try) to use the cue cards to prompt our kid as to what happens next. And so the list goes on.

I call bullshit on the if-onlys, and I call bullshit on the everything-is-for-a-reasons. It is what it is. Do I learn and progress? Of course. Does this crap make me a better person? Probably. Could I have learned those things without losing my little boy one seizure at a time? Definitely. Do I love my kids but wish it were different? Yes, yes and yes! But like I said, to a greater or lesser extent, don’t we all wish it were different? I suspect so. So friends, stand with me today in a unanimous middle finger raise to the if-onlys and the everything-is-for-a-reasons. Grab this little bit of life right now, minute-by-minute, day-by-day, beautiful bits, beastly bits and all.


‘Yesterday is gone. Tomorrow has not yet come. We have only today. Let us begin.’

Tuesday, 26 August 2014

Sibling Syndrome

So today would have been my mum’s fifty-sixth birthday, but she never made it this far. For whatever reason, she had to go at the tender age of fifty-four and a bit. It also happens to be my daughter’s ninth birthday- I can never quite decide whether that was poor planning on my part, or a decent hand well played by Fate. We ate cake for breakfast, made pancakes, and I waved O off as she merrily left to visit her grandparents. I hung out with my little sister; we had lunch in a café we occasionally visited as kids, that happened to be re-opening today after a lengthy refurb *cue spooky music* bought flowers and took them down to the river where we launched them one by one (speedily-sorry mum) in the pouring rain while saying ‘Happy Birthday’ in as many different accents as we had flowers. We know how to live, the little sister and me! The ducks were none that impressed when they quickly realised that the lilies weren’t the bread they’d been holding out for, but other than that a fairly un-sad and successful trip. They say time is a healer and that would seem to be true, at least in this case. We still both miss her on a daily basis, but remembering her doesn’t hold quite the same sting anymore.
In other news we are struggling on an epic level with our five-going-on-fifteen year old. I’m fairly sure anyone who knows me would say I was a pretty chilled parent; I have that whole opposite of control freak thing going on- some may call it ethereal, others just disorganised. I try my best to let the bad behaviour pass me by, I am NOT a fan of supernanny, and if you asked me the value I most want to encourage in my children, it would undoubtedly be free-thinking. Martin Luther King, Elizabeth Cady Stanton, Florence Nightingale, Mary Seacole, Emmeline Pankhurst, Mother Teresa, Sigmund Freud, and many others- examples of incredible fearless people who valued individuality and human rights over any of the constraints society and culture shackled them with. 
As Henry David Thoreau once put it “Disobedience is the true foundation of liberty.” I totally agree with this. And yet, what the heck do you do when that free thinking person happens to be your little shit of a child?  She questions everything, and I mean everything. When I ask her to please do something, she asks me why, thinks for a moment and then makes an informed decision, mostly to the tune of no thanks mum, piss off. Thankfully she doesn’t know any swear words yet, so hasn’t actually ever told me to piss off, but I don’t reckon that particular issue is too far round the corner. She went a bit crazy the other day and smacked me, so I attempted to pull the supernanny routine and sit her on the ‘naughty step’ for two minutes. She promptly got straight up again, and so I placed her back on the step and informed her that any further attempts to leave said step would result in a loss of pudding. She loves pudding, but even this wasn’t enough to thwart her crazy bright freethinking little brain and sway her into conformity. She proceeded to ask me what exactly we were having for pudding, in order to weigh up whether it was worth staying on the step for. Facepalm. The child also happens to be no respecter of persons; the thinking for herself and apparent rudeness can occur at any given location. She isn’t scared about taking on older children at the park if she thinks something is unfair, and she will definitely speak her mind if asked a question by an adult, regardless of any social constructs and without concern for how her response may make them feel. Her school report stated ‘BP knows her own mind and is very confident in sharing her opinions.’ I know a few teachers and up until July I worked in a classroom, and that little statement basically translates to ‘how the heck do we tell you your kid is a non-conformist nightmare child.’
So it got me thinking; how can the very thing I value so much in child rearing also be my biggest bugbear?! And I think the answer lies in the fact that B happens to be reacting at a level way beyond her years. She responds with the thought processes of a child much older, and with life experience even most adults won’t ever have the pleasure of. You see she’s my fourth child. She comes after my very special boy, a kid who needs around the clock 1:1 attention. She bears the brunt of B’s frustration on a regular basis and has the bruises and scratches to show for it. She watches her brother seize up to 45 times a day. The phrases she most often hears are, ‘BP, just wait… please wait… not right now… I’m in the middle of dealing with B…go ask your sisters…I can’t right now…hang on…two minutes…’  Conversations are regularly cut short in order to rescue B from some predicament or other, her older sisters, while very gracious to a point, understandably get annoyed with her banging on and on at a constant high volume. She wants to be heard and yet so often, through circumstance alone, her voice is drowned out by generic chaos. We try and set aside Mummy-B time, which she laps up, but as soon as regular life kicks in again after that little oasis she defaults to defiant little devil. 
So the more I chew on it, the more I realise the impact of having a special needs child radiates out to the whole family, and more than that, has an immense effect on the baby born after him. Emotional exhaustion, physical fatigue, sleep deprivation, adrenaline insanity, system fighting, advocating and the day-to-day chaos of living with four children, one of whom you literally cannot take your eyes off for a second, are all ingredients for a less-than-ideal environment in which to raise a little girl. Sibling Syndrome. My guess is it’ll go one of two ways; either I’ll end up with a compassionate, strong survivor or I’ll end up being a granny at 40! I haven’t got a crystal ball, and of that I’m very glad, because if I knew what was the next curveball in the game of my life I might well just give up now. So I’ll keep trying my best, even when that best seems so far from good enough.
The next time you see a kiddo kicking off (especially if it happens to be mine!) please try and view it through the kaleidoscope of context. And if you don’t know the context, don’t succumb to the judgey constraints of social appropriateness just because. Yes, a child may be displaying definite signs of Spoilt Shit Disorder, but they may also be showing old before their time, freethinking Sibling Syndrome traits.
‘Disobedience is the true foundation of liberty.’ Henry mate, I f***ing hope you’re right.

*Since time of writing I have set up a funding page to try and get out to a conference about my son's rare condition. Please head over and give if you can.



Monday, 14 July 2014

The Dead Seagull Society

So lovelies. Today life sucks. I’m not asking for pity, or sympathy, or any of that mushy stuff; it is what it is. I think it’s down to a combo of factors; tiredness, getting shredded on a daily basis, missing family and perpetually grieving the life we watch everyone else with kids our age living. By shredded I don’t mean that 30-day shred phenomenon that’s been going round on the app store; purposely putting my body through torment on a daily basis is something I can live without. Funny that. Shredded is perhaps too harsh a word but for the last three months my arms and the arms of my kiddies (particularly the littlest) have been covered in claw marks and small teeth imprints; the physical manifestation of the frustration my boy must feel constantly. We are entering the fifth week of a medicated B, and so far we are still seeing multiple seizures every day, with new types developing on a regular basis. I’m the reincarnation of Scrooge and Christmas when people mention their excited plans for the weekend or the bloody countdown to the summer break, if every day could be a school day that would suit me just fine. I feel a literal dread in the pit of my stomach when I think about the six week summer holiday, hurtling towards us like a thundering train, indiscriminately flattening everything in its path. I don’t want to allow myself the luxury of looking ahead to September in case I don’t make it through August!

So, getting beat up on the daily, being permanently knackered, watching my boy experience the monster that is epilepsy, and undertaking the epic task of booking in enough respite to make sure that everyone in my house is safe over summer does not make for a cheery smiley lady. Sorry folks. I’m also experiencing another wave of grief over my mum, and battling the perpetual grief of losing a life I didn’t realise I’d planned. I know it’s hard for people to understand since grieving commonly refers to the feeling people have after the death of someone important in their lives. For a long time I felt so guilty and unfounded in my use of the term grief, but what we deal with on a daily basis is just that, loss. I felt awkward for feeling loss when my child was right there in front of me. But once I’d delved into the recesses and processes of what I was thinking, I realised it wasn’t B I was grieving, it was the life we could no longer live because of B’s many and complex needs. And that grief is continual. There’s no end point.

After mum’s death I am gradually re-aligning my head to the new reality of a mum-less life, and although that’s tough, I imagine there will be a point where it no longer stings quite as much; when the salt of watching other people with their mums runs off scars rather than inflaming raw open wounds. B, however, is a constant in-your-face reminder of everything we CAN’T do as a family. Don’t get me wrong; I love my kids more than anything, B included. I would go to the ends of the earth and back to ensure their safety and happiness, something that is put to the test on a regular basis with B. Endless appointments, infinite fighting, physical hard work, becoming an expert researcher in meds and side effects and writing enough reports and logs on him to fill a bloody BBC archive. But as most people’s families grow up, their worlds open up too. Things that were impossible with babies morph into fun activities; going to the beach, heading out on a family bike ride, having a picnic, swimming in the sea, fun at the park, visiting friends. Even a freakin’ food shop is doable. Families like mine get left behind. A trip to the beach equates to S and me tag-teaming each other, running round like loons to make sure B doesn’t drown/run away/snatch other people’s food/steal random beach toys/attack strangers with inappropriate crotch-height faceplants. A family bike ride is the biggest gamble-sometimes B is happy in the trailer, other times not at all. If you judge it wrong you’re screwed. Riding six miles with a wailing traumatised child who is pulling his best Houdini escape-artist move is not fun. Neither is it safe. A picnic…. Hmmmm, have you ever played those maze games with the little balls you have to tilt into place? Yeah, that. Swimming in the sea involves attempting to convince B that he is not in fact a fish, and he really can’t swim to France yet. Fun at the park? Last time we went I had lots of fun wrestling a dead seagull from B’s clutches-he had it by the wing and thought it was hilarious to flap it about. Cue instant shrieks from me as I rigorously shook B’s arm (I wasn’t about to touch the bloody thing), aghast onlookers watching in shock until he finally released the poor creature. RIP Mr C Gull. Visiting friends… well, we gave up on that a long time ago. Infinite apologies. Once we visited a (very good) friend and B clumsily knocked over a one-of-a-kind wedding present vase. The friend in question burst into tears, I felt hideous and B was none the wiser. He’s a one-man destruction cyclone- shadowing him around someone else’s house and restraining him from, oh wait, EVERYTHING, is not my idea of a good time. Oh, and food shopping? Don’t even go there.

A family acquaintance said to me a few weeks ago I needed to stop comparing my life to everyone else’s. This acquaintance, might I add, has experienced minimal trauma in his life as far as I am aware, and as such is in a great position to be handing out advice to those of us with the audacity to voice the fact that life is bloody tough. I know it’s not a comfortable topic for people to hear. Imagine how much more uncomfortable it is actually living it. I’m not into the self-pity thing; it’s highly ineffective in making things happen, but when literally every second of your life is consumed by the life-you-never-planned, it’s nigh on impossible to avoid comparisons. It’s hard seeing typically developing kids the same age. It hurts my heart watching typical birthday parties, when B never even gets an invite and definitely couldn’t handle his own. So while, the sentiment of non-comparing is a great ideal to aspire to, the reality is very different. Hence the ongoing nature of the grief surrounding a special kid and the circumstances we find ourselves in.

Let’s look on the bright side; at least with a post like this the only way is up. Bring on the summer holidays. Come on, do your worst. I’ll do some sort of Hakka to get my head in the zone and I will survive. Cos that’s just what we do. We survive.

I’ll leave you with a few lyrics from my favourite Mumford song ‘After the Storm.’ This sums it up nicely.


Night has always pushed up day
You must know life to see decay
But I won't rot, I won't rot
Not this mind and not this heart,
I won't rot.

And I took you by the hand
And we stood tall,
And remembered our own land,
What we lived for.

And there will come a time, you'll see, with no more tears.
And love will not break your heart, but dismiss your fears.
Get over your hill and see what you find there,
With grace in your heart and flowers in your hair.