Summer days drifting away...

The summer holidays. A busy and/or stressful time usually. Ours seemed to fly by...

Holidays 

We had a semi disastrous stay at my mam's caravan where Michael attempted to burn it down, and Nate screamed all night most nights. 

We managed some lovely days out, particularly to Seahouses, Lindisfarne and Alnwick Gardens. Nate loved the wobbliness of the rope bridges and cobbles. Thea always panics slightly at the causeway to Lindisfarne, which always amuses me. 

Decorating 

Nate had his first sleep over in Thea's room. His bedroom was being decorated by Michael's twitter friend  @buxtongooner (who is now an actual real life friend). Hurrah for twitter!  Luckily Nate was having another trial off BIPAP. Not sure where we would have put the ventilator! 

The new room. 

Treatment 

Botox isn't just for the rich and famous. It can have amazing results in people with various levels of spasticity. So mid August Nate had Botox in his calves to help release his tight feet and to stop their constant motion which is starting to deform them and prevent his standing. It was quite straight forward really- 3 needles in each of his calf muscles guided by ultrasound while allegedly "sedated" on midazolam ( Nate veered from the norm and became hyper). 

Fundraising 

As the holidays drew to a close we held a 5 a side football tournament-raising money for sensory equipment for Nate's new room. This was organised in its entirety by Glenn Kent, to whom we are eternally grateful :) A huge amount of money was raised! 

The winning team 

Thea and Nate returned to school at the beginning of September and Nate had his feet put in casts to stretch them and try to get them in a better position now the Botox had worked. 

A week later Michael and Glenn Kent ( yes yes I know I think we may owe him an organ or two) ran in the Great North Run for St Oswalds and Nate.

Watching for daddy 

They both did amazingly well. Though Michael is taking his time recovering!

And no before you ask, I haven't had a chance to do any teaching yet. Which is odd as I've had to use my teacher voice on 3 separate occasions this week. To adults. 

Already my availability for work has been scuppered by Nate being booked in for an upper GI endoscopy next week. Hopefully it helps give us some useful information and it's worth him having the GA. It scares me silly the thought of another GA, and somehow this procedure is classed as "elective". Unsure how we have a choice in the matter when we are desperate to help him identify the source of his pain and help him! 

So this is what happens when I don't blog for a while. You get inundated with photos. It's like sitting through a relatives holiday snaps on a Saturday afternoon. Sorry. 

However it's probably still preferable to me waffling on!

Carer? Career?

What a difference one letter makes 

As you all know I gave up work 2 years ago to be Nate's carer/nurse/therapist/dogsbody. In there, somewhere, hidden away, is being his mother.  

I'll be honest. Since then I have felt embarrassed when people ask "what do you do?" or "Why don't you work?". My feeling becomes that of automatic defensiveness. Government rhetoric has propagated the scrounger mentality and all I can see in my head when I say " oh I gave up work to look after my disabled son" is "scrounger". I get an odd look and an awkward silence which I then feel obliged to fill with a cast iron defence as to why I can't work. Examples include; 

"He's often very ill and in hospital"

"He needs 24hr care"

"The constant appointments made working really difficult"

"His health is unpredictable at best"

"I have no childcare"  ( see the recent parliamentary enquiry into childcare for disabled children http://www.edcm.org.uk/media/155556/parliamentary-inquiry-into-childcare-web.pdf) 

The fact that I feel the need to defend myself is ridiculous. That in itself is possibly a reflection of the lack of self worth and confidence that happens when you become a carer. You start to lose your identity. As a carer you fulfil a vital function but your country thinks you spend your time lazing about. The reality of caring involves days filled with phone calls, appointments, prescription sorting, time in hospital, and if you're lucky a nap ( *lazy klaxon*). If you require any adaptations prepare to loiter around the house during the work, and for the meetings and rep visits beforehand. Everything a typical family could manage to get done on an evening or after school is best achieved during the day. For example even nipping to the shops is a nightmare on my own with the kids and the SN chair. Try preparing tea with a screaming 4 yr old who wants attention/ tube feeding/ meds/ changing. Or do the dishes/ washing/ etc with a child who needs a close eye kept on them. It's trickier than it seems. Yes I know all kids need attention but you can plonk most 4 year olds in front of the TV while you get on with things. It's tricky ok. 

Gradually, however, there's starting to be a few days a week where I don't have anything urgent I need to do. I've found myself thinking "I could do something with this time". I volunteered with Scope to be a befriender, and with SWANUK to be the local networks rep for their pilot, but even so, I still have some time I could spend productively. Not every week mind you, and some weeks I have very little free time at all, but maybe, just maybe I could squeeze in a job that I have trained and qualified in. Whatever I did I would have to be home by the time Nate's taxi arrived back after school ( yes that's right he's going by taxi in September!) 

I made the decision a few weeks ago that  in September I'd go back to work. I'd try supply teaching. I'd do half days and full days when I could. I wouldn't have the contractual planning and marking workload and could have total flexibility. Of course, already Nate has attempted to thwart my plans. So far in the last few weeks we have had 3 nights/ 4 days in hospital, and everyday this week 4.30am wake ups and disturbed nights too. It makes me second guess my plans because quite frankly I am crap without sleep. 

 But I am doing it I am I am. 

Working let's me wear another "hat". albeit temporarily. I can abandon the nurse/carer/dogsbody/mother hats ( until the phone rings that is) and start to remember what being Rachel means, find my identity and attempt to claw back some pride. 

I might have better craic too. 

The last 2 weeks in photos

Sleep (sort of) study

Good sleep study = trial off bipap and on nasal cannula oxygen YAY

High temperature and tired boy who then turned blue in the face :/ 

Hospital natie 

Exploding arse natie

Hot natie

Needing oxygen when sleeping natie 

Feeling better natie 

Ridiculous rash natie 

Natie at home with his "get well soon" balloons from SWANUK :) 

"Hasn't it flown?"

It's 2 weeks until Natie turns 4, the result of which is a flurry of emotion. To distract myself from this I tend to look back and assess the last year in the run up to his birthday. But I haven't quite managed. 

Birthdays are odd things when you have a child with PMLD and complex needs. Nate understands very little of what is going on. He can't open gifts, or eat party food. He can't dance or play musical chairs. He does, however, have a somewhat dubious taste in music, which is satisfyingly normal. Then there's the nightmare of buying presents for him. Once you've purchased what seems like every sensory item under the sun you're pretty much screwed. So um we haven't bought anything yet....

Turning 4. I could make some throwaway comment like " where has the time gone" or "hasn't it flew by". But I won't. I have felt every single day. Each day has left a little lasting imprint on me. Partially because I wanted it that way in case we lost him, partially because some days have been extremely tough and sometimes scary, but also because every day spent in hospital bloody drags by. I think one hospital day = 3 normal days at least. I certainly feel 4 years older. 4 years of stress, heartache, and of course love weigh heavy on your soul. Frustration and tiredness add lines and creases. Then there's the "shoulds" ...

Nate should be starting his sister's school in September. 

I should be thinking of school shoes not trying to find shoes that fit over AFOs. Botox should be something I read about in a celeb magazine not arrange to have injected into Nate's calves and ankles. 

I should be discussing Dopamine with y11 in GCSE Science not starting a gradually increasing dose to try to stop Nate's involuntary movements. 

See what I mean? I'm not doing a (fairly) healthy look back very well am I? 

What is (metaphorically) battering my head is that I remember Thea's 4th birthday so vividly. Michael painted her room bright pink while she was at pre school and I was in hospital with Nate. I planned her party at his bed side. She flounced into Nate's room dressed as a beautiful princess and burst into tears later when she saw her decorated room. 

There. Off on a tangent again. What I'm trying to say ( I think) is that birthdays make the contrasts all that much clearer. Birthdays highlight the "shoulds" and "what ifs". They make you think of the physical and emotional hell you went through straight after your special, beautiful, and amazing child was born. The constant stream of negatives and sadness. I recently read through Nate's medical notes. It was a hard but worthwhile read. I remember every discussion, and every diagram drawn to explain things. He really was very well looked after in SCBU. 

So Nate's year then. Focus Rachel. 

It's been a bit interesting at times. We have had a few ambulance rides, hospital stays and an actual bona fide diagnosis! Never thought i'd be saying that! We are trying to get to the bottom of Nate's pain and screaming so have a new "low fodmap" diet to try with Nate. We started using a blended diet with him which has helped his reflux immensely. Testing wise he had a fairly normal MRI and a trial off BIPAP, but has several tests still to come.  Meds wise we started using melatonin which helps when he is extremely tired, but can't switch off and go to sleep. He is starting dopamine next week to see if that helps his twitching and jerky movements. 

This year has been incredibly frustrating at times. Particularly before we received Nate's diagnosis. Being "undiagnosed" led to much disbelief regarding symptoms. Fortunately we have had the support of his school. 

Oh and school! A fabulous first year at school :) mustn't miss that out!

*doesnt mention the excessive hoist-age appearing in her home this week* 

It's not all bad

It's not all bad

There. I've said it. I know I must seem to spend an awful lot of time on my blog complaining, worrying and stressing about things, but I have always tried to show the good with the bad. The positive with the negatives of our very complicated life with Nate.

For those who don't know us Nate has a very rare genetic condition called ATR-X. He was finally diagnosed in February and is almost 4. Nate has PMLD and complex health needs ( that's the short version). 

 I'm worried ( yes more worrying) that I've failed to highlight how happy and fulfilled our lives are as a family, and how much joy Nate brings. As I write this he's having a difficult screamy- twitchy day which means being able to do anything apart from give him cuddles is nigh on impossible. Between the screams come smiles that light up the room. He may have been screaming since before 4am and broken his sats probe ( leading to excessive beepage), but having him in my arms ( no biting please Nate) still makes me smile. 

I mean yeah the story may be somewhat different if this goes on for a few more days and nights and we enter sleep deprived hell again ( we are on an odd "natey cycle" of a few night ok sleep, a few nights screaming, a few nights coughing and choking, a few nights of manic seizurey stuff, and a few nights of sats alarms"). I'm sure I will feel less smiley again. We rely heavily on Nate's respite to be able to cope with this cycle which leaves us exhausted and stressed. Without respite I would be sat in a corner crying, struggling to stay awake as things can be so tough, but it's amazing what having a short break/ respite service can do for you and your sanity. Seriously. ( so that's respite- a very expensive but vital service provision, bloody hard to access, but gives amazing benefits and incidentally one of the many services suffering around the country as budgets are cut and reallocated). 

Once we got passed the " oh my god my child is so different and so complex what are we going to do? How do we do this?" stage we accepted Nate for Nate. I had always thought that this must be the hardest thing to come to terms with. I was wrong. We started to try to help him ( and us) access the things we need to survive and thrive as a family- and this actually turned out to be the hardest thing to achieve. 

Once you can nod and accept that he/life/everything is always going to be different you can then enjoy the little pieces of progress that make your heart want to explode with joy. In addition you get the smiles, cuddles, and special moments to savour. These are all best enjoyed in your own little bubble, however, as the world and community around us are still a scary place full of stares, comments, and judgement. 

When elected councillors bang on about your children being a burden it invokes a mixed response of 

" how dare they say that! No they're not" 

 And a begrudging

 " yes actually they can be damn hard work but worth it and if you bleeps would actually offer sufficient support, help and advice things would be a whole lot easier so stop harping on about money and do the right, moral, and decent thing". 

The argument always seems to come back to money. SN equipment is expensive. Everything to do with having a disability or an additional need is expensive. Stop weighing up the value of one life against another. Anyone can become old and/ or disabled. Please note you may feel karma bite you on the ass one day.

http://www.chesterchronicle.co.uk/news/chester-cheshire-news/cheshire-west-chester-council-deputy-7025284

The "burden" idea raises it's ugly again again after the incredibly sad deaths of 3 children with a genetic condition. I will not comment on what happened but one knock on effect is the resulting "better off dead" comments and the lack of appreciation from some that the life of a disabled child lost is just as significant/ worthy of grief as that of a healthy able bodied child. As a result many news articles have attempted to show how hard life can be for parents of disabled children ( thanks for showing that) how we have to battle and fight on for everything our children need ( true) and how we are left exhausted ( again true). Presumably in an attempt to show how a parent could potentially be driven to do such a thing ( allegedly). So while I appreciate the publicity showing the realities of bringing up a child with a severe disability I am left feeling resoundingly uncomfortable with the thinly veiled implication that somehow the deaths of the 3 children are understandable given the situation. It frightens me that people who can't ever understand the situation could think that. I keep hearing " burden" in my head and I don't like where that train of thought could take society. 

This article below left me thoroughly depressed. I ended up thinking " is this my future? Will I feel like this in 20 yrs time?" ( if he's still alive and i bloody well hope he is).  I'm sure it exacted sympathy from the general public but...

I can't help hoping people I know didn't read it and think how awful our life must be, because it isn't. 

http://www.independent.ie/world-news/europe/the-love-hope-and-despair-of-caring-for-a-disabled-child-30221251.html

It's all gone a bit heavy hasn't it. That wasn't my intent but quite unavoidable. really given the subject. I think for me personally I hope that people can see how difficult our life is at times, how we have our own version of normal, but that they can see Nate isn't a burden. We are lucky to have him. He's a wonderful little boy. Yes he's hard work. Yes we have had to make a number of difficult decisions and changes to our lives but that's ok. Nate's life has value. He has worth. I hope no one ever thinks we would be better off without him. it's not a "shame". Don't feel sorry for us just appreciate the level of care he needs and what we do for him, but know we get much back in return. 

Here's Nate and his grandma's puppy Daisy. 

What we do need is public support not pity. It's all very well and good thinking " oh the poor children" but you need to acknowledge and understand the effects of the huge amount of cuts being made to all people young and old with a disability. And... well start saying

 " that's not on" 

Rather than 

"we're all in this together" 

with regards to austerity measures. 

http://www.theguardian.com/commentisfree/2014/apr/27/disabled-children-and-carers-need-more-than-pity?CMP=twt_gu 

An absolutely brilliant response to and continuation of the guardian column is this. Please read

http://www.mamalewis.com/2014/04/27/what-your-prayers-mean-27042014-disabled-guardian/

So in summary. 

Nate is lush. 

Things are tricky. 

Things will get harder. 

Don't judge

Show your support. 

Don't think it's all bad. It's not.

And if in doubt "send lasagne" as mamalewis says. 

My swan graduate- the diagnosis

No more testing. No more waiting. 

As of today Nate is no longer a SWAN. He has a syndrome with a name -ATRX - x linked alpha thalassemia mental retardation syndrome. 

It's a rare syndrome. I'm still trying to find things out about it but from what I can gather there are about 200 recorded cases worldwide.

 I have a graduate swan.

I'm not sure how I feel. I felt suitably nurtured all cocooned in the undiagnosed community. Now I'm left wondering where we belong. I'm finding this situation quite frightening. It's like venturing into the unknown again without anyone to hold my hand. It means I have to take notice of the facts of ATRX, whereas before I could happily bury my head in the sand and say "well we don't know, that might not happen". It seems that many children with ATRX die before their 5th birthday- causes seem to aspiration and pneumonia, complications of intestinal problems, and the unknown. Nothing new there really. However there are a few adults with ATRX in their 30s. Nate seems to be at the severe end of the syndrome spectrum but the positives are that many children eventually walk and some manage a few words. I hope that the professionals involved with Nate will now be better equipped to help us give him the quality of life he deserves. It has been difficult for all concerned to diagnose and treat Nate's many clinical problems, I can almost hear the proverbial sigh of relief heading this way from the hospitals involved with him. Saying that some teams involved have been outstanding and totally unfazed by his prior "undiagnosed" status. Hopefully the diagnosis will explain some of Nate's issues and lead to successful treatment with medication for his often confusing and distressing symptoms. 

So this means no more testing for Nate.  No more waiting.... Or does it? 

The diagnosis has a sting in its tail and comes with deeper implications. 

Being an x linked syndrome means that it came from me unless it was a spontaneous " de novo" mutation in him, with Nate getting his healthy Y chromosome from his dad. If it came from me there is a chance that our daughter may carry the mutation so the next stage is finding the mutation in the ATRX gene present in Nate, and then testing family members for it. This will allow everyone concerned to make informed choices in the future. 

The most frustrating thing about all of this is that "probable alpha thalassemia trait- clinically insignificant" is listed on Nate's newborn screening. I was told it didn't mean anything. And yet an alpha thalassemia trait, hypotonia, and unusual factial features ( all of which Nate had at birth) are the key parts of the syndrome. Actually "frustrating" is an understatement.

I have eaten much cake today. There is wine in the fridge. That's all I have to say. 

BBC online news article on Nate

http://m.bbc.co.uk/news/health-25978111

Sleep

Sleep. It used to be so easy. 

I have vivid recollections being a (lazy) teenager sleeping until lunch time, an adult with a job sleeping off a hang over all morning. Weekends were for sleeping. 

Sleep sleep sleepity sleep. 

Babies

This changed when I became a mother for the first time. I thought I understood sleep deprivation. Oh the indignation "I can't function on 3 hrs sleep!" There were nights of screaming and feeding. I remember crying rocking a 1 yo with an ear infection in the early hours of the morning thinking she's got to give in soon. And she did.... eventually. I remember thinking "I can't cope without sleep when will this become easier?", and, inevitably, it did. From about the age of 4 months thea has been a decent sleeper ( unless ill or teething) and even as a toddler we just took turns getting up super early on a morning as required. As a parent you commiserate with new parents and bond over lack of sleep safe in the unspoken acknowledgement that things will improve. It's a phase you have to battle on through pumped up on caffiene and red bull.

But what if sleep doesn't return to your life?

After Nate's birth i spent day and night expressing milk in a feeble attempt to "help" him. It gave me something to focus on while we felt completely helpless. 

When we eventually brought him home he slept far too much due to blood carbon dioxide levels ( we didn't know that at the time) but we had to be awake several times during the night to ng feed him. 

As time went on nights became full of rubbish sats, suctioning, feeds, beeping machines and re positioning. 

There's the nights he screams on and off all night and we don't know why. Earache? tummy ache? Uti? Bad dream?  Muscle pains? Sometimes we know and can treat the pain, other times we fumble around in the dark trying in vain to comfort him from the unknown. 

Some nights Nate doesn't sleep at all. I'm not exaggerating. He doesn't even close his eyes. He becomes Nate destroyer of probes. On these nights at some point we pass out and get about an 1hr of sleep in. It's best not to attempt conversation with us after one of these nights. 

Then there's the times he's has horrible seizure activity during the day and is flat out asleep out at night. We have the opportunity to sleep but are stressed and anxious. 

Oh and there's the nights Nate thrashes about ( possible seizurey) and breaks probes and sometimes sats monitors. 

Good nights are those without de sats. Where Nate sleeps for a few hrs and then wakes for a bit, but doesn't break any sats probes, doesn't alarm too much and at least some sleep can be clawed back. This is manageable. A 3hr block of uninterrupted sleep means we can function and hold a civilised conversation with you. I suppose this is our aim for every night. We don't expect him to ever sleep all night every night just enough to keep us sane and functioning.

Short breaks and respite are vital for our sanity

So we sleep 3 nights a month when Nate goes to respite. We have just introduced Nate to melatonin in a bid to help regulate his sleep. The drs don't think this will work but hey ho its worth a try. They were quick to point out melatonin is a hormone, it is not a sedative. "We don't want to go down that road" they said. Sedation could cause breathing problems. As he's on overnight ventilation I'm not sure how relevant that comment is. I also reckon if they'd looked after Nate overnight for a few months they would be a tad more keen to get to the bottom of his sleep issues and discomfort.

We thought introducing an overnight feed would help. It probably has a bit, but not enough. The problem with the "sleep situation" is that i can't see any reason for it to improve. Nate's neurological problems mean he probably needs less sleep than we do. His distress in the night could be pain or seizures but without knowing for definite we can't help him. I am conscious that this is all a bit me me me but it's about Nate too. None of this can be pleasant for him. 

I have sleep envy. 

Remembering Lyla

Our SWAN uk group lost one of its own last night. 

Beautiful Lyla grew angel wings. My thoughts and prayers are with her loving family. 

Its something no family should ever have to go through. 

Death, loss, bereavement, however you want to describe it, it's always there, lurking at the back of the mind of any parent of an undiagnosed child, or any child with complex needs or severe illness. You get by in life, in the day to day pointless, trivial BS,  hoping it won't happen, or that it won't happen anytime soon. Sadly it sometimes will. 

Fly high Lyla

Day case natie

In the run up to today's hospital stay I have been an anxious mess. Camomile tea on tap and rescue remedy at the ready, not to mention the EFT tapping. It's terrifying to have a child with breathing problems and neurological issues have a GA. Then there's the worry of what the results of the MRI and skin biopsy might show. There's a damn good reason why we had a break from testing. The state of limbo while you await results being a huge part of it. But new symptoms meant that a better picture of nate's brain and another look at his chromosomes was necessary. 

However , I was stunned by the improvement in nate's breathing. 

We went into hospital for an MRI and skin biopsy with a GA, and subsequent PICU and then ward stay. Nate usually needs airway help and ventilation on his bipap machine. He usually takes about 6 hrs to wake up and then needs oxygen. 

What actually happened was that we went to recovery and found a partially awake natie on only oxygen :) We went back to the surgical ward and nate's oxygen requirement reduced quickly. He was alert and happy. Total contrast to previous GAs. 

Even more amazing was that we got to go home! We were a day case! Unheard of in the world of natie capers.

Huge change in my boy. 

So now we wait for the MRI results- will it show a cause for the gelastic and probable dacrystic seizures? Is there a hypothalamic hamartoma nestled in there? Will the skin biopsy provide genetic results for a mosaic syndrome? 

So now it's a waiting game 

Laugh cry or sleep

Christmas is complicated. 

Nate is difficult to buy for and can't do usual 3 year old things like ripping open presents and gorging himself on food and chocolate. 

Noise and chaos, although not upsetting to Nate, make him jerky and laughy ( and not in a good way). 

If anyone wanted a cuddle and could manage to lift him, chances are they would get bitten while he was in sensory overload. 

Shops are busy. People are stressed and even more inconsiderant. 

We had nights and nights of endless screaming and eventually gave in on New Year's Day and took Nate to hospital. They couldn't explain it and asked me to keep a diary to plot this screaming cycle deciding it may be either screaming seizures or some sort of seizure activity upsetting him. Thea is well used to being at hospital with Nate and came prepared. 

So the happiest parts of this holiday have been spent just being together. Snuggles in bed and lazy days. The holidays ended with a family trip to a relaxed panto performance of Cinderella watched from a box. Though that experience was more for us than for Nate. 

Back to normal now. Tests, appointments and meetings. But hopefully some good things too. Happy new year.