Tuesday, 4 August 2015
It’s hard to describe the feeling. The feeling when you walk into a room full of strangers who you instantly recognise as family. People from all corners of the globe who are linked intimately with you through random happenstance (I only just learnt that was an actual word- I LOVE IT). People who get it, who face the same struggles daily and who understand, really understand, how crazy life is without you ever having to utter a syllable. Last week I had the incredible opportunity to attend my second conference for families affected by dup15q syndrome, the rare chromosome disorder my son B has. The dup15q expresses itself differently in different individuals, but the overarching symptoms are the same throughout- low muscle tone, autistic features, communication difficulties, sensory processing disorders, cognitive disabilities and seizures. Living with this cocktail of issues is hard, and a big part of that difficulty is the isolation factor. Families with kids of the same age are now able to do things that are just impossible for us with B, and while we have a handful of friends who love us whirlwind chaos and all, our life is on a whole different trajectory. Sometimes that path sucks balls, I’ll be honest, and other times I wouldn’t wish for anything else.
The conference was amazing for a few reasons, and ironically challenging for those very same reasons. Learning more about the condition from people who are constantly researching was inspiring to say the least, but navigating the extreme cultural differences took a lot of effort. Our NHS in Britain is undoubtedly a broken system, but a system I am eternally grateful for none-the-less, and something I utterly believe in to the core of my being. Over in the States insurance is everything, and your level of healthcare depends on the premium you are able to afford. I still don’t fully comprehend it, but there is a chasm of difference in the way the two systems operate. As a result (and I’m speaking from my limited perspective only) more drugs are available over there, and patients can ask for procedures which would be considered unnecessary over here. Here I battle to get an EEG done regardless of the fact B has not had a single seizure-free day since his epilepsy started, and he falls too far outside the box for anyone to really understand what’s going on with him. BUT all our care is free, for which I am hugely grateful, and I still stand by the socialist ideal of every person, regardless of social status, being equally able to access good healthcare. That being said, our government are pulling money from all the wrong places right now, health and social care bearing the brunt of those so called ‘austerity’ cuts. Before I go off on my political high horse, I’ll steer it back to the conference! This cultural difference was tricky to helm, especially because I was one of only a few non-Americans, and of those, the only Brit. The whole time I spent there involved sifting through and taking away the info that I thought was most useful to communicate to B’s team over here. I’m hoping they want to listen, because I honestly don’t want to shout.
I’m not an easy crier- anyone who knows me will know that. Bit of a heartless bitch if truth be told; a product of background, circumstance and temperament. I have no issue being me, but from what I could gather at the conference I was again in the minority on this one. From day one the raw emotion in the sessions was tangible; healthily so- being there is like coming home, the kind of special camaraderie that only comes from shared experience. The shared experience of a life you never imagined or planned for. But I will admit, there was one moment that had me sobbing. On the third afternoon a documentary following four families living with dup15q syndrome premiered (to watch, please head here). It was beautifully done; honest but hopeful, raw but real, and gave a gritty glimpse into the issues our families face daily. One of the children on the video had intractable (difficult to treat) seizures, similar to B, and happened to have a seizure on camera. Watching B have seizures is part and parcel of my everyday; I’m almost immune to the emotional impact, mainly because I have to function. If I lost it every time I saw B seize, I’d be a dysfunctional mess- something I simply can’t afford to be. Watching someone else’s kid go through what we see daily was another thing entirely though; it hit me like a brick. As I dissolved into tears, so did my friends around me, and the genuine shared sorrow was something that I will never forget. In that moment, the isolation evaporated. These people got it, and they were hurting because I was hurting- pissed off at the shit deal our kids get. There were no clichés in sight-just extreme empathy- no words necessary.
Being a self-confessed geek the science meetings were right up my street. Learning about the mouse models they have created which over-express the same region duplicated in the affected kids was fascinating. One step closer to creating pharmaceutical intervention (meds) to combat the specific gene over-expression. Amazing stuff. There is constant research going on, research which may, in a few years, offer us a real solution to the varying issues our children face. Awareness raising in the meantime is key- something I do through blogging and through conversations with those of you I see face to face. Something I hope you all don't get utterly fed up with.... but hey, welcome to our life!
We constantly walk the line between wanting B to be the best he can possibly be, to reach his potential (something we want for ALL our children), and acceptance of where he is right now. I wouldn’t change him for the world; if I took away his genetic condition he wouldn’t be him. Do I hate seizures? Fuck, yes. I’d take them away in a heartbeat if I could. And the other medical bits that are unfair and make life tricky? Yeah, they suck. But the essence of who he is, the genetic hardwiring written into every cell in his body? Honestly, I wouldn’t swap that for the world. The kids I met at conference reminded me again what it is to be human, stripped back and laid bare. They are all incredible, awe-inspiring individuals, precious just as they are. What’s messed up is society’s idea that worth is based on contribution, or looks, or academic ability. Bollocks to all that. As Einstein once said “What can be counted doesn’t always count, and what counts cannot always be counted.” Never have truer words been spoken. Our kids count. Not as an afterthought, or a pity-thought, but as people who can teach us a hell of a lot about the real deal with life.
Big thanks to all of you who share this journey with us- we need you. Especially when we appear to be coping, we need you. We’re experts at looking like we’re managing when actually it’s constantly ninety miles an hour just to stand still. But just remember too- you need B. You’re all lucky, as are we, to have a kiddo like him in your life. He has a heck of a lot to teach us all. Get involved! You’re always welcome…. :D
Monday, 29 June 2015
Today is Monday. And today I am exhausted. After a couple of weeks of feeling like we were winning the battle against epilepsy, we had an epic fail over the last few days. I can’t describe exactly how draining this journey is; every single day is an unknown and the Lennox-Gastaut syndrome demands every ounce of our energy in caring for B. Up until now the most prevalent seizures B has had have been obvious. Big head or body drops, being flung backwards across the room, being unresponsive and vacant. Distressing to watch, and time-consuming to record, alongside the constant background decision making on what necessitates extra meds intervention versus what B can cope with. The seizures are so sneaky though. Once you think you have a handle on what’s going on, it all changes.
On Thursday B needed to be woken up- for a child who regularly wakes between 4.30 and 5.30 am bouncing off the walls and ready for the day this was highly unusual. More alarm bells started ringing when he couldn’t physically climb out of bed without support. He was shaking all over, clumsy, minimally responsive, uncoordinated, unable to feed himself breakfast, and most notable of all, unable to walk properly without someone helping him. I wrote in his home-school communication book* so school were aware of his presentation, and sent him on the bus. At around 11am I had a call from school, who were concerned that B hadn’t picked up, in fact he was progressively getting worse. It’s worth noting at this point that every time my phone flashes up with a call from school, my heart is in my mouth. It’s almost always a bad thing. In the early years it was usually due to a fall or bump (hyperactivity plus clumsiness does not a bruise-free child make), nowadays it tends to be around the seizure shit. Although I’ve never admitted this out loud, a tiny part of me always wonders if they’re ringing to tell me the unspeakable- whether that phone call is THE phonecall- the one where they tell me it’s all over. That we’ve lost him.
They phoned again a while later to tell me he had fallen asleep. I advised leaving him an hour and waking him then if he hadn’t woken independently. Cue another call an hour later to let me know they couldn’t wake him up. At this point we decided together to intervene with seizure meds to try and break up whatever the hell it was that was going on, which apparently didn’t really do much. B slept the rest of the school day, briefly woke up and ate something, and then promptly climbed on me and fell asleep again. This whole pattern continued until Saturday evening. On Sunday morning B was brighter, and continued to progress until by the afternoon he was back to his typical self. We did however begin to see some new odd movements which may be different seizures emerging. Watch this space.
Due to a combination of poor communication, logistics, inexperience (on both ours and the local hospital’s part), and the fact it was a weekend (I shit you not) we couldn’t get the required EEG that would have confirmed our concerns around B being in non-convulsive status epilepticus. So if any of you out there are thinking about going into status, make sure you don’t do it on a Friday in Dorset. Poole EEG department ain’t got time for that shit. (In fairness, a certain member of Poole EEG department didn’t have time for that shit; the other experiences we’ve had with those guys have been great.) Non-convulsive status epilepticus is effectively a constant seizure state- in literal terms, an actual headfuck. In NCES all of a person’s electrical signals to co-ordinate their movement, thought processes, and general function are completely scrambled; hence they appear dazed, confused, lethargic, vacant, unable to perform usual skills and just ‘not there.’ Although not imminently life threatening, leaving a person untreated in this state for prolonged periods of time will cause neuronal damage; in other words, permanent brain damage will start to happen. In a child like B we simply cannot afford for him to lose communication, skills and function that has taken years to consolidate.
So, after two incredible weeks of fairly good seizure control, the beast returned with a vengeance. It was hideous to watch, so I can only imagine what B was going through. Lessons have been learned. Next time we won’t wait to see how it pans out, we’ll act ASAP with the urgency that should be applied to any child showing unresponsiveness and complete polar opposite behaviour to their normal. Especially since this is a child with a multitude of diagnoses and difficulties. Today I have spent time debriefing with school and speaking to medical staff about protocol should this happen again. We’re all on the same journey aboard the Unknown Express to Who-The-Hell-Knows-Where. The ride is turbulent at best, soul-destroying at worst, we are all shattered, and we seem to be off road in a place where few have been before.
Today I want to get off.
*The home-school communication book is a vital piece of kit for children like B. Imagine sending your child to school with no ability to communicate how their morning had been, how they were feeling or what was happening to them at any given moment. Then imagine picking your child up from school, asking about their day, and them being incapable of answering you. This is where the home-school diary wins out. Every morning we write the things B can’t say, and every evening we check out the communication from school so we know how his day has been. A little extra piece of admin every day. Because the universe thought we didn’t already have enough.
Tuesday, 9 June 2015
Our family is quite different from those around we know
See, usually each child gains independence as they grow
Learns toothbrushing and getting dressed, and how to talk and smile
Or maybe ride a bike, or cook, or run for miles and miles
Now B’s a rare and precious gem; unique I guess you’d say
He’s almost eight years old but hasn’t spoken to this day
He tries so hard to let us know what’s going on inside
But sometimes it’s too tricky and he ends up way too tired
The memories of baby groups are hard to bring to mind
I sat there smiling outwardly, while way deep down I cried.
The other mums bragged proudly of their babies expertise
And me? Well, I had nothing- it brought me to my knees
While toddlers started chatting, and copying mum and dad
B screamed and roared and cried a lot; my heart it hurt so bad
I tried all the usual parent tricks to try and help my boy
But nothing worked (except sometimes a loud and flashy toy!)
As time went on the fog let up- we had a clearer view
B was slow no matter what we did or didn’t do
A whole new host of issues to deal with day-by-day
A brand new destination, but we didn’t know the way
Appointments, meetings, therapies, carers, respite, jobs
The endless stream of admin that never seems to stop
People say “I couldn’t…’ but we really have no choice.
Our child’s so very vulnerable- we NEED to be his voice
Every day is different, but the common running thread
Is that B needs someone there with him right til he goes to bed.
The things you take for granted which your able kids can do,
Are things we need to do for B; for him it all seems new.
Despite the tricky challenges a special child can bring,
He’s taught me how to laugh through tears; instead of crying, sing.
The world puts so much value on measuring our worth,
But worth cannot be measured for each person on this earth.
Who can price an attitude that valiantly soldiers on?
A laugh? A smile that lights up hearts? A softly whispered song?
The touch that wipes a tear away, the deep connected life
That bonds a son to mother, and a husband to his wife
Next time you see a child like B, I urge you to look deep
To see beyond your first glance to the soul that’s underneath
Disabled? Yes. But more than that, a strong and gorgeous boy
Who causes lots of chaos, but brings enormous joy.
Monday, 8 June 2015
So, this week is rare chromosome awareness week, and I’m attempting a blog-a-day in the spirit of raising some awareness around the impact of a rare chromosome disorder on every day ordinary life with our everyday ordinary family.
I thought I’d start at the beginning, seeing as much of the focus on social media today is on D-day- diagnosis day. I can’t remember the actual day or time we received our news, but I do remember not having the first idea what any of it meant. And I also remember how I felt. There had been almost three years of appointments, therapies, watching my baby boy’s future unfold into an entirely atypical toddlerhood and fighting to get medical professionals to listen to my concerns in the lead up to D-day.
When B was born, he was dead. Clinically speaking. His Apgar score was one, and when he was placed into my arms he was the same grey-blue colour as a dolphin. Unfortunately due to all my babies being back-to-back, and the odd labouring pattern this brings about, I only had a student midwife present at the delivery since they thought I would be pushing a lot longer than I actually was. After what seemed like an eternity the student midwife pulled the emergency buzzer and a whole paediatric crash team came bursting through the door. I had just enough time to watch S’s wavering expression as he weighed up staying with me versus following our lifeless newborn outside as they worked on him beyond my view. He went with B, which I am forever grateful for. B was small and vulnerable and he needed his daddy.
Apart from some hypoxic shock (where your blood gets too acidic since it’s been transporting carbon dioxide rather than oxygen around, and your body tries to compensate) B pinked up nicely after being bagged and we were allowed home the next day. Or, as is the case in a lot of overflowing maternity wards, politely moved along! We proudly took our beautiful firstborn son home, but B was unlike any of my other children- while the girls had to be constantly upright and watching the world go by, B lay on his playmat disengaged and disinterested in his surroundings. The girls sat up at five months and continued to hit every milestone far earlier than their peers; B was floppy like a ragdoll and didn’t manage to hold his head up properly until around nine months. The girls were constantly babbling and chattering, while B made no noises at all. The only way I can describe it is he seemed to be born without instincts; no recognition or crying for hunger or tiredness, and no outward need to be held or interacted with.
He also did this odd little thing from time to time where he would suddenly go blue, pedal his arms rigidly, and stop breathing. Me, being the no-nonsense mum that I was, presumed it was just a wind issue or something because he would always return back to normal afterwards. I was concerned enough to mention it at his eight week check-up though, and the doctor looked at me like I was crazy. Right on cue, B decided to show off his skill and the GP freaked out and sent us straight to A and E. Absolute utter parent fail. He then did it again once we got to the ward and the whole place erupted- they whisked him from me and worked on him to get him breathing again. I was completely mortified- I’d been letting this go on for eight weeks, and given the reaction of the hospital staff, this was clearly NOT the right call on my part. Ooops. We were admitted and discharged a week later no closer to unravelling the mystery, but had been made to undertake resuscitation training should the need arise. B continued to stop breathing at random moments throughout the first year of his life, and it became the norm for us, although B has scared the shit out of many a Joe Public in his time!
One chaotic episode followed another and it became increasingly clear our little boy was far from ‘normal’. We were referred to Great Ormond Street to test for muscular dystrophy, but that came back clear. B had weekly physiotherapy which (slowly) helped build up his strength. Our community paediatrician was entirely unhelpful and wrote me off as a neurotic parent since I was so young and as she saw it, slightly Google-happy. I, however found the world wide web a brilliant source of help. I did a lot of research around B’s symptoms and kept coming back to autism. Heading to the National Autistic website I noted B hit every single one of their 16 red flags for autism. Armed with this, I went back to the community paediatrician and argued for an ASD screening. She reluctantly agreed, even though she had labelled him with Global Developmental Delay which seemed to satisfy the medical professionals involved with him. GDD is a term given when a- they have no idea what is going on with your child or b-can’t be bothered to investigate what is going on with your child. It describes the symptoms and not the causes of a child’s delays, and in terms of accessing services is pretty useless.
Unsurprisingly, B aced the autism screening and came out with a clear diagnosis of autism spectrum disorder (ASD). He was 26 months old, and all I felt was floods of relief. It was something I’d known for a long time, and while it didn’t change anything, it paradoxically changed everything. Now there was a cause, a reason and we could arm ourselves with a strategy.
Yet I still had a niggling feeling in my gut. A feeling that while ASD was part of the picture, it didn’t explain everything. There were too many other weird and wonderful things about B that were not encompassed by that diagnosis alone. So I carried on researching, and fighting to get B a karyotype. A karyotype is a blood test that sets out a persons chromosomes under a microscope to screen for any abnormality. Things like Down Syndrome, Fragile X, and Angelman’s Syndrome- all examples of disorders where too much or too little of certain chromosomes go on to have serious implications in the bodies and lives of those affected individuals. My community paed sensed I wasn’t the kind of person to give up easily once I had convinced the rest of B’s therapists to support me, and she eventually agreed to do the test. Blood work was sent off to London and usually took a few weeks for results, so we waited. The medics told me there was a 90% chance it would come back showing nothing, since autism and global developmental delay often occur in otherwise healthy people with normal chromosomes.
A few weeks later. D-day. B was almost three years old. The phone rang, and it was the paediatrician from the local hospital with the long-awaited results. Something had come up on the test. As she continued her words blurred and I heard splinters of information but struggled to focus on the whole call. Too much chromosome 15….. maternal side……rare…. geneticist……not much known……a handful of cases in the UK. I hung up the phone and a numbness washed over me. What the fuck did this mean? As I googled duplication 15q syndrome and read over the information I found, I went through every emotion imaginable. Shock, fear, grief, despair, sorrow, anger, relief, vindication. I had fought this all the way, and I was right to have done so. My child was different. Every cell in his body had too much chromosome 15 material which explained all his difficulties. But this was super rare, and not much was known about it. What was known was horrible and very hard to read. Seizures, autism, risk of sudden death, recurrent infections, mobility problems, severe communication delay, profound learning difficulty…. The list went on.
Finally gaining a diagnosis had plucked me from Uncertainty Street and whisked me super speed straight over to Planet Unknown. And then the real journey began…..