So how much £&@! can you fit into a room?

Nate hasn't been feeling great this weekend and so we have retired to his bedroom which is where his sensory equipment lives. It's a huge room. But it doesn't look it. Alas Nate's room isn't filled with the usual crap of a 7 year old boy. No lego on the floor or cars lined up,  or princess dresses ( no gender stereotypes here). Instead his room is chocka with sensory equipment and toys, cuddly toys, and medical/ care shit. 

I'm sittting here thinking this absolutely sums up why families of disabled children and adults feel squished in their homes, and why so many fundraise or look to charities for equipment. I watched the GNR last week and as we cheered and supported those running ( or walking) we could see that so many were running for charities that have helped and supported us. I saw Newlife and Percy Hedley. I usually also see The Rainbow Trust, Caudwell Children, and people running for The  Great North Children's Hospital. However as I was so busy chucking jelly babies and slices of orange at people in dinosaur costumes I probably missed them. 

There's a huge stigma associated with asking for help with money. I must confess I felt a weird mix of guilty and downright shitty when we fundraised for Nate and also applied to charities. We had no money for any of the things that Nate would enjoy, and that wasn't just because we were um you know bankrupt and a bit "housing unstable" shall we say. It was because every bloody thing with a "special needs" tag on it costs a fortune. Had our financial situation been better some of these things would have still been completely out of reach. So if you do see families raising money for sensory stuff please recognise that they aren't tight or lazy, and they can't just get a job and pay for it themselves. I won't bore you ( again) with how difficult it is to work and care for someone with additional needs. Just believe me it is. 

So I thought I'd take you on a tour of Nate's room. If you like you can imagine how much stuff we have to take away for just one night out of the house and the army style organisation that goes into it.  

I should have tidied first. Ah well...

Oxygen concentrator to provide oxygen for the ventilator, and back up cylinder in case of power cuts. The electricity suppliers know about us and have to provide a generator  within 4 hours but sometimes the concentrator isn't feeling well. 

One not so small boy.

Bag and mask for um bagging.

Nate's wall of clever things he has done. Yes the room is still a boring grey/ blue colour but we need him out of the house to decorate and when he's out of the house for respite all I want to do is sleep ( and drink wine). Once the room is decorated he will have a huge notice board up for his photos and certificates. Currently they are held up with a mix of hyperfix and sellotape and make the carer crap herself when they fall down in the middle of the night. Ooops. 

Emperor Zurg and Rex guard the seizure management plan, nasopharyngeal airway and rescue meds. The video monitor points to the sats monitor so that we can keep an eye on them from outside of the room and intervene ( panic) when necessary. 

Nate's bed has breathable sides, for um breathing, and its raises and lowers and tilts. He has a sleep system for his posture and the mask for his bipap is on the pillow that doesn't match the duvet cover. Scruffs.

Sensory stuff that's seems very small now. Or he's very big. One of the two. How have we still not put the mirrors on the wall? 

Chair for the carer who does a few overnights.  They need a comfy chair. Thems the rules.

Overhead hoist for um hoisting. That I do lots of...

We are so messy. Sats monitor and probe, gloves, nippy bipap ventilator and humidifier, drawers full of spare probes, tubing and general shit. God bless Ikea. 

That's probably everything. Spare oxygen, suction machine etc are under the bed but if I showed you that... well I'd have to kill you. 

Not shit part two.

In December 2015 our family went on the trip of a lifetime. Caudwell Children's Destination Dreams trip allowed us to use Nate's Make a Wish at Give Kids The World in Orlando Florida. We had a team of doctors and volunteers to help us and 24 other families experience the parks of Florida and make precious memories. Our next door neighbours in Give Kids The World, a fellow Caudwell family, told us about their cruising experiences and how positive they had been. Cruising was an experience I hadn't ever considered as it was something I ( wrongly) associated with old people. Getting a complex child with a shit load of kit on a plane ( see previous post about Nate's room) with a huge team of helpers was at best described as tricky. Whether it was the passengers getting off the plane flinging themselves over oxygen tubing as they were in SUCH A HURRY, the passport control man who screamed at the doctor carrying Nate's concentrator to "GET BACK AWAY FROM THE LINE ONE PERSON AT A TIME", or the family in front of us on the way home who boarded late and immediately flung their seats far back into mine and Nate's laps  ( we were at the back), well I knew I wouldn't be able to take Nate in a plane again. Didn't mute those low oxygen saturation alarms very quickly did i huh?  😉. 

Although absolutely crapping myself at the idea we ( that is Michael) thought a cruise was worth a try. 

Things that had to be sorted-

-Accessible room ( so that the wheelchair would fit through the door) 

- Oxygen 

- Water for feed and flushes 

- Blending Nate's food 

- Fridge for meds 

- Appropriate voltage for Nate's electrical kit 

- Lots of meds

- Packing feed, containers, syringes, pads, and the other stuff Nate can't go without

- The normal stuff you take on a holiday...

And so after a VERY long drive we arrived in Southampton, stayed over and made our way to the docks. 

At the cruise terminal the Royal Caribbean staff took one look at us and shipped us off to priority boarding. Porters at the car park were unable to take much of our ( well Nate's) luggage for safety reasons and so we were still pretty heavily laden entering the terminal. The boarding staff arranged for some of their crew to get us and our excessive amounts of luggage and kit onto the ship. Not being able to get into our room until 1pm was a bit of a pain but having taken up a drinks package offer meant a constant supply of alcohol, which certainly helped. 

Our "accessible panoramic stateroom" had amazing views. But I wouldn't describe it as big or flash. I took a peek at the other rooms on the deck and ours was huge comparatively, but once you added a wheelchair and all of Nate's kit in there wasn't much space to move around.  Not that we planned on spending much time in the room. Most importantly however, Nate slept! 5 nights in a row. So all we need to do is go live on a boat... 

The cruise had everything we needed as a family. Activities for Thea, and experiences for Nate. The food was great and the service outstanding, particularly in the main dining room. 

We had a tube blockage issue mid trip due to the busy buffet restaurant not sieving the blend, luckily this was a partial blockage and we could still get meds down the tube. Eventually ( a day and a half later) the offending seed was dislodged and the tube unblocked much to our relief. Nate's gjet had only been replaced the week before and I didn't fancy having that particular conversation with gastro...

The cruise company provided coaches, including many which were wheelchair accessible, into the local towns once we had docked in our destination ports. We seemed to find some sort of celebration everywhere we wandered, and Nate had a truly multi sensory experience. To be honest we were just as happy on the ship. Even the choppy motion and sea air seemed to agree with Nate. The hustle and bustle of evenings on board was also a huge success. 

It was such a pleasant change to be on a trip  where I wasn't made to feel like having a disabled child was a huge inconvenience. With the exception of some very lovely and amazing places locally I've found in general there is a substantial lack of knowledge and understanding within customer services of disability, illness and additional needs. There's usually a look of panic or irritation when we ask for something different or "not the norm". Front of house waiters in restaurants are unable to even shift chairs out of the way of Nate's chair. There's the staring when Nate starts with his variety of noises, or just at him full stop. It was refreshing to not have that. I hadn't realised how much the actions of others weighed on me until it was very obviously absent.

If you are in customer service you need to learn about your customers, and that means all of them. 

If we've learned anything it's that life's too short so we will take the "not shit" times and max the living shit out of them. 

Yeah so Michael was right, it was a good idea. 

ssssh don't tell him though

What about quality of life?

Not shit

Not shit 

Not shit

Still not shit

Not shit 

Not shit 

Not shit

A bit shit 

Not shit 

Not shit at all

It's very easy to imagine that a life with medical needs, lots of tube-age and a profound learning disability could mean a poor quality of life. I've heard medics throw this term around quite flippantly, " you need to think about quality of life" they say without actually understanding what that term means. For them it seems to mean cognitively and physically able, orally fed and managing to communicate. In their defence medics do tend to see our kids at their worst. I just wish they would see these children enjoying life, however  different it may be. This attitude skews society's perceptions and helps no one. 

My son is surrounded by love. There's no better feeling than that. 

#qualitylife

#justsaying 

The life I want for our special sibling

I came across a story on Huff Post the other day which I haven't been able to stop thinking about. It was a heartwarming piece about a young man proposing to his girlfriend and formally asking his girlfriend's sister ( who has Down's Syndrome) to be his BFF forever.

http://huffp.st/h7IFWT2

"Lovely" I said to myself. How sweet. You see they came as a " package deal" explained the engaged sister in the article. The three of them having become firm friends after the couple began dating. "...a wonderful sister and caring fiance" I thought.

However the more I considered the article content the more uncomfortable with the situation I became. Reading between the lines the young man was "taking on" the sister and her additional needs and the writing was very much in praise him for being prepared to do so. Hmm. I can't help but smile at the happiness of these three young people ( it's not creepy Rachel it's not creepy Rachel) but I still didn't like it. The fact that the fiance knew how important his future bride's sister was to her and had therefore planned how to incorporate her into their future is kind and thoughtful, and in reality a huge commitment, not to mention the added pressure on their relationship. So I had a bit of an "oh" moment. It hit me that this was the opposite of what I think/hope/wish for my daughter and son. If Nate's syndrome hadn't brought with it such a profound intellectual disability ( and the unlikelihood of becoming a teen let alone an adult) I would have loved to see his independence nurtured, for him to be assisted to make decisions and watch his personality develop whilst giving him the space to do so, watching carefully from the sidelines naturally. I want my daughter to have the chance of her own life too, one at least partially removed from her brother and his care needs. I want a life of adventure and excitement for her where she can stretch herself and also be valued. As I watch her grow into an intelligent and responsible young lady I see endless possibilities. I want her to make choices in life based on her own hopes and dreams, not what our family may need.

For as long as her brother is with us I know they will have a uniquely special bond which in no way do I intend to discourage, but be his carer? Nope. Just no.

Should something catastrophic happen to both myself and my husband please don't look to her to provide Nate's care. You can probably ( make that definitely) guarantee she would demand to have a say in how his care is organised, or do the organising herself, but don't expect her to do the day to day shitty stuff, take that literally if you like.

By all means she can be the fun sister. She of almighty cuddles, weird dancing and loud music. She can be chief hand and face stroker, toy buyer, den builder and Natie calmer. She can lead him on sensory adventures. She can take on my mantle of queen ranter and designated eye roller.

But she is his sister.

She will not be his carer.

( Although she will likely have something to say about that)

In our seven years of living with Nate her needs have taken a backseat.I miss football matches and school events, or become stressed and uncomfortable when he screams and shouts. She's had birthdays and mother's days in hospital. School holidays in hospital or at appointments. Day trips cut short or cancelled. One parent in attendance where there should be two. She knows more about tests, scans, and medical devices than most adults. She fetches, carries, waits and helps where she can, tolerating it all without ( much) grumbling. Most of the time I feel pretty lucky she's not a total dickhead as a result of everything we've been through as a family, and then she does something particularly arsey and I'm simply relieved she's behaving like a typical pre teen girl.

And yet ( just to be completely contradictory) I nominated her for a local carers award the other day even though I detest the idea of her being thought of as carer...

I recognise this life is all she knows but I can't help wanting something different for her. However I must appreciate that this is what I want, what I think she needs, what I envisage for her future.

What if I'm wrong?

What if all she really needs is to be close to him?

All I can do is ensure she has a choice.

On competitive parenting

I've been annoyed again this week ( no shock there) at a particular article in the Daily Fail, which I will not link to. I'm sure you know the one I mean. The one that criticises "slummy mummy" bloggers for swigging wine and gin, despairing at their parenting skills and being generally horrified at all the shit their offspring get up to. It gave a few examples and suggested we should feel shame at our actions. Quoted was a "boob out" situation one blogger went through when the delivery man knocked at the door due to expressing milk (I can give that a ☑️ although i was "airing" a sore breastfeeding nipple and it was the postie) and feeding frozen fish fingers to their child ( I'm pretty sure this was said as a joke, I'm equally sure me blending the shit out of cooked fish fingers and tube feeding my child them wouldn't go down well either). 

"Heaven forbid you should let slip any sign of pride, standards or pushiness", says a condescending Anna May Mangan ( which amuses me greatly as an ex science teacher when my phone auto corrects her to manganese). What really erks me with any of such sanctimonious shit is that parenting is fucking hard. Really fucking hard. When I had my daughter my biggest problem was the pressure I put on myself to do everything "right". I felt that society was constantly judging me and wanting me to do more. This little girl needed me to do better. I had difficulty bonding after a long and crappy birth, then struggled to breast feed. I spiralled into depression. I think she was 18 months before I felt like I was actually coping. I wish I had known there were people out there struggling like I was, questioning their decisions, or just thinking "fuck it" and having a glass of wine. 

 It's ok to be proud. I'm endlessly proud of my daughter but ( I hope) that I balance this with comments about temper tantrums and all the times she pisses me off, because, you know, honesty and all that. My daughter has coped with an awful lot over the last 7 years. Do I go on about it?  Hmm maybe...

http://theaandnatesmam.blogspot.co.uk/2013/01/a-letter-to-my-daughter.html?m=0

But no one is perfect. I see some "Facebook perfect" lives and simply assume they are either the most boring people on the planet, or consummate liars. I love modern mummy bloggers for their honesty. Looking back it would have been therapeutic to have those blogs to read through my dark times of PND when I was having CBT, and this is probably what pisses me off most about the article. 

As a mother the pressure starts when you are pregnant:

Make a birthing plan 

Eat this don't eat that. 

You can't do that

Sleep while you can 

Breast is best. 

Have a natural labour. 

I wouldn't have an epidural 

Then when they are born:

Breast is best 

Sleep when they sleep

Wean at this age

Make your own food

Are they not sitting, crawling, walking talking yet? 

I lost my baby weight in ....

You're back at work already? 

In my day we didn't 

I wouldn't do it like that

I think you should...

Everyone has something to say, and opinions they feel that they simply MUST share. Wouldn't it be great if instead of being judgy judgersons we supported each other as mothers and acknowledge the fact most of the time we are muddling through parenthood. It's ok to have a glass of wine after a day of snot and tantrums. It's ok to have a fucking messy house. What is the role of lego after all if it's not to produce the first time your child will hear you swear? Never mind their first word, that's a milestone in itself. 

You may be surprised to learn that the special needs community can be equally competitive. This tends to take two distinct forms. 

1- Having the newest equipment, extra therapy/ best rated schooling etc. Which is basically our version of employing tutors, extra curricular activities, and how many languages a mainstreamer can speak aged 6. ( I'm probably guilty of this). In fairness I think this happens because so much of our lives lies beyond our control that we push where we can. 

2- ( much more unpleasant) The "my child is sicker than yours" scenario. We've all met them. You might have been in hospital 2 weeks, they were in a month. Your child might have 3 consultants, theirs have 5. You might have this WAV, they have that one. Your child might have x and y health issues, and z procedures but they need to stress a few more. They think you need to do blank because they do. Honestly. It's dreadful. You might be struggling with blank but OMG they are struggling with so much more. Usually these conversations occur on wards or in social groups with people who barely know you. It's a perverse game of disability top trumps (as my friend Liz has just pointed out). This is not to be confused with times other parents are trying to show that they understand what you are going through by offering up examples from their own lives. The distinction is obvious when it happens. 

What tends to happen is that within the SN community you find like minded individuals and  form smaller groups. For example mine have a fondness for wine and taking the piss out of themselves and each other. You might have very different children but bond over a shared experience, or have children with the same condition and feel an instant connection. 

One devisive point within the additional needs community can be people's take on a poem/ letter by Emily Perl Kingsley called "Welcome to Holland". 

http://www.our-kids.org/Archives/Holland.html

It pisses me off. It's about how having a child with additional needs is just like planning a holiday to Italy but ending up in Holland instead. Well for a start with I bloody love Holland. I "get" the sentiment behind the letter, about embracing the differences of your child, but it doesn't speak well to parents of children with complex health needs. Many, many, well meaning people over the years have pointed me in the direction of "Welcome to Holland" but I think a far more appropriate comparison to having a child with complex health issues is the first season of Lost. 

You've survived a plane crash but a fucking polar bear keeps trying to eat you. 

Sums it up I think. 

It can be extremely difficult to have a child with additional needs and or / health needs and appreciate the problems parents of neuro typical healthy children face. It can feel like a "them versus us" scenario. But effort needs to be made by both camps to support each other as only mothers can. Disability can happen to anyone and it is important for a fully inclusive society to have a appropriate level of support and understanding. It can feel like the other parents don't understand what we are going through, but unless we talk and make the effort how will they ever know? 

So in summary:

Parenting is hard. 

Avoid the Dharma Initiative 

My post for ATR-X awareness

Nate was born with a whole host of unusual, or "dysmorphic" features. To this day these remain my preferred terms, especially when compared with the ever popular "abnormal" or "abnormalities". Although if you do feel you need to discuss my son's features please feel free to start that conversation with "cute" "handsome" or "cheeky". Just a suggestion. Anyway, Nate has a pretty big list of them, the compilation of which began the day he was born (which looking back was actually a bit shit). Picking faults with my little baby in SCBU always felt a tad cruel. Each time the paediatricians did their rounds they would point out yet another unusual feature. As we all looked at him lying in his incubator not doing very much, the testing began. Blood tests, urine tests, ultrasounds, x rays, MRI. Anything that could explain why this full term, unusual looking little boy lay there fairly unresponsive. Rubbish breathing, wouldn't feed, didn't cry, didn't move. We left SCBU still clueless about what to expect from Nate. 

The subsequent undiagnosed journey was an exhausting one, luckily we negotiated this fucked up obstacle course with the support of our friends at SWAN UK, our lovely paediatrician and our highly motivated and extremely competent health visitor. As the months went by more symptoms and more unusual features became apparent  and the team of consultants and therapists around him became ever larger. The first few years of Nate's life were the bleakest as dreadful diagnoses were suspected and we lived like donkeys on the edge spending more time in hospital than at home due to constant chest problems, wondering how long he would live for, and WTAF would happen next. 

Several truly awful events stand out from those first years:

- The time we narrowly dodged Nate being diagnosed with a particular syndrome for the simply reason that the gene causing it had recently been identified and was now testable ( he would have been diagnosed with it on clinical features alone). During the 4 week wait for those results Nate became quite ill ( again) and discussions in hospital turned into gentle pressure towards letting "nature take its course" and that we should remove his oxygen and ventilation if the diagnosis was confirmed. This was in the run up to Nate's first Christmas, and what we suspected would be his only one. 

- The one where we had to tell our family that Nate had been seen by specialists who weren't hopeful about his prognosis ( he lay unmoving needing oxygen, not feeding or responding) and to prepare ourselves that his breathing and everything really would only worsen over time. 

- When Nate repeatedly had to be bagged in hospital as his respiratory control kept shutting down while non invasive ventilation ( NIV) was being introduced and we were being nudged ever more firmly towards a tracheostomy placement. 

- When on coming home from hospital armed with the NIV Nate turned purple in the early evening as he had completed stopped breathing and had to be resuscitated by my husband. 

- The time Nate started sounding chesty and our attempt to take him to the RVI required a detour to the QE ( nearer) and me carrying him into A and E shouting that I needed help as my child wasn't breathing properly.

- The 999 calls shaking as Nate's breathing went downhill rapidly. 

- The one where a certain hospital ( not one of our local ones) did a fair job of almost killing him. I'm not even exaggerating. They wouldn't  listen to us, his parents, as we desperately attempted to explain how his breathing would likely deteriorate over the next few hours ( as we had seen this pattern several times before) and suggested firmly they contact his specialists for advice. They refused. They also disconnected his oxygen to take him down the corrrdor to another room ( with me running after them to reconnect) as they said he'd be fine in the minutes it would take. Hmmm. 3 hours later he was being bagged, sedated, intubated and ventilated and awaiting collection by our own hospital's PICU team. 

- The time my husband was in an ambulance going to one hospital and I piled Nate in the car to take him to another one. Bless the nurse that arrived in Nate's room on the assessment ward with emergency tea that night. 

So yes I complain and push. Yes I piss people off a bit. I accept "Nate's Mam" probably has a reputation. But I'd rather push and be wrong because if you don't the alternative could be the unthinkable. 

It's important to note that one key factor in all the above was the lack of comprehensive diagnosis. Nate's doctors have always treated his symptoms as they have appeared, and actually done a bloody good job. They have  given opinions based on experiences with children who presented similarly. Not knowing what Nate "has" can only have made this more difficult for them, however those who know him best have always done well by him, even if we have disagreed at times. 

I hope I've made the problems of not having a unifying diagnosis clear, however even taking that into consideration we decided to have a total break from testing. So unless someone popped up doing the moonwalk and waving a diagnosis that they were actually fairly certain of, we said no. The emotional rollercoaster of testing was unsustainable. We desperately needed to get on with living. After all, there is only so much drama one family can take, and googling shitty syndromes was taking over my life. There's only so many times you can go through a syndrome checklist going "got" "got" "got", read depressing articles around being "life limited" or "life threatened", or have the good old "quality of life" conversation without wanting to poke your eyes out with a spoon. So sticking our heads in the sand for a bit sounded like a decent plan, although this baffled a few people in health, which only goes to show how little those individuals understood about the impact of testing and waiting for results. We had emerged marginally unscathed from what can best be described as a year of financial turbulence, housing uncertainty and feeling mentally pretty shitty and we needed time to regroup. 

Jump forward in time a year or so and we had reached a point where we felt it was the right time to recommence genetic testing and find the cause of Nate's problems. Please keep in mind that genetic conditions are either the result of a "de novo" or spontaneous mutation which is unlikely to occur again and would not be found in either parent, or that one or both parents have passed on a faulty gene leading to the specific condition. The answers when we got them could be potentially devastating for one or both of us and we needed to be emotionally ready for that. Something again I feel health professionals didn't and still don't grasp the significance of. We needed to understand the pattern of inheritance and the possible implications for our wider family having already decided not to have anymore children ourselves. At the same time as we signed up to take part in the DDD study ( a huge piece of genetic research analysing the genome) I gave an interview for BBC health online about having a child with an undiagnosed genetic condition and this led to Nate's actual diagnosis. Nate has quite distinctive facial features and researchers working on ATRX who saw his photos in the article recognised in him the clinical features of the syndrome and made contact with our geneticist. 

So what can I tell you about ATRX? Well to start with it's rare. 200 + cases now I think, and that's worldwide. I can only really write about our own personal experience of ATRX and not the condition in general as this syndrome has quite a large spectrum and at present more young people who are mildly affected are being diagnosed. What I do feel I must stress is that many boys who have milder medical symptoms may have extremely erratic and often violent behaviour. To describe their behaviour as challenging is an understatement and this area is often missed in articles about the syndrome which focus mainly on either a general overview of those pesky dysmorphic features or the medical complications of it.

This is an X linked syndrome which means the mutation is carried on the X chromosome and causes clinical symptoms in individuals where only one X is present- i.e. males, who have both X and Y chromosomes. Females have 2 X chromosomes. If like me you are a "carrier" of ATRX then you have one faulty X chromosome and another healthy version of the chromosome and the gene on it. So while the presence of one healthy X chromosome means I am unaffected by the syndrome myself I can still pass it on (as I have done) due to having a faulty one too. The inheritance pattern means any boys I conceive would have a 50/50 chance of having the syndrome and girls a 50/50 chance of being carriers of it. Males only have one X chromosome present and so that one faulty X is enough to cause the syndrome in them as they don't have a healthy back up version to rely on as we females do. The syndrome can cause severe genitourinary differences and there are girls affected by the syndrome (they are externally female), however when their chromosomes are analysed they have both an X and Y chromosome and not 2 Xs. 

The ATRX facebook group were asked by the fantastic Dutch ATRX Foundation to share with them a photo of a relation affected by the syndrome and give one word that describes what ATRX means to them. I'm not often lost for words but I struggled to do this. I'm not sure "fucking shit at times" was quite what they were looking for. So I went with:

ATRX=Nate

Because it does. ATRX gathered up all of Nate's oddities and symptoms and wrapped them up with a bow, if that bow was gene mutation that is, and a single amino acid one at  that. 

ATRX means Nate has PMLD. He experiences the world on a sensory level and understands little of what goes on around him, he is also non verbal and can't sit or stand. ATRX means Nate has a cerebral visual impairment so although his eyes are structurally intact his brain can't process the images. 

Nate's emotions can swing from smiling and happy to angry and screaming very quickly. He has severe gastrointestinal problems which include pain, and now uses a gjet device for feeding. ATRX means Nate often goes without sleep and thrashes all night with no respite from the neurological activity causing this behaviour. During these periods of time he can't be comforted as he lashes out nipping and biting. His breathing too is a bit shit- he hypoventilates ( shallow breathes), particularly when sleeping, and so he is unable to expel sufficient CO2. This combined with his obstructive and central sleep apnoea led to a long stay in hospital (after a sleep study at 11 weeks old) while he adjusted to night time  ventilation via a nasal mask ( and dodged having a tracheostomy). His breathing at night can still be tricky to manage but the BIPAP ventilation keeps him breathing ( most of the time). We have had some unusual seizures, chest infections, urine infections and ear infections. We've had operations to remove a lump from his mouth, place a gastrostomy and hunt for his missing testes.  I think that ATRX has affected all of Nate's body and mind to varying degrees, but what does seem to be repeated in the majority of the boys ( and those beautiful XY females) is the pain, feeding and gastro issues, seizures, and breathing problems. Nate had a period of time where any very high temperature would result in respiratory complications and ambulance rides, which wasn't fun at all. 

What I can say is that from being a baby who didn't move or respond to light or noise, and needed oxygen 24/7, he is now a young lad who loves music and recognises the voices of close family and his teachers and carers at home and school. He enjoys the freedom of the floor and rolls and wiggles from one area to another. Nate's breathing has improved considerably and he only uses oxygen through his ventilation at night, or if he's had a bad night and is in a deep sleep during the day. He will switch to activate toys and activities, and loves the feel of fluffy things. He splashes about laughing and smiling in hydrotherapy or if we take him swimming, and thrives on the bounces of rebound therapy. He is a very different boy now. 

ATRX for Nate often means hospital and pain but also perseverance and determination. It can mean happiness at even the smallest of things. I worry that people reading this think everything is "all bad", and it isn't. It can feel that way watching your child scream and thrash for hours and be unable to help them, but then we get days of smiles and "taps" and watch him engage in the things he loves and suddenly everything isn't so bleak. But equally I can't say that this syndrome means Nate is just a bit different, as lots of the SN blogs and memes like to suggest when talking about living with a child with special needs. ATRX is much more that that. Some days I can feel it crush my spirit as my son writhes in pain. I feel it destroy my soul as for the100th time I listen to professionals who are unsure how to treat Nate's symptoms because he is so rare. 

ATRX for me means guilt, fear and heartache. It's a hard thing to process being a carrier of a condition. It's a mother's job to protect their children. Not give them a disabling genetic syndrome.

What I can say is that now, with a robust care package, good school that I trust, and an experienced team of health professionals around us (not including the ones that need to do a bit more out of the box thinking mind) that we and Nate enjoy life together. Our hearts melt as he reaches for us, or smiles and shouts at things he loves. His bond with his sister is a beautiful thing. The bloody dog loves him, even if he has to dash away from Nate's jerky movements. 

ATRX is rare, and rare means the future for Nate isn't clear. Treatment and management options aren't well researched and documented. We are lucky that the Dutch ATRX foundation is now studying epilepsy and sleep within this cohort of boys and girls. We need more of this. We also need better sharing of information on ATRX between health professionals around the world. 

I've wittered on before about how I sometimes wonder if there is any lasting legacy from awareness days but if just one person reads this and it stops them being a massive dick by saying the wrong thing and instead leads to their empathy, or if they realise the importance of our health service, if they grasp the idea that rare can mean the unknown, or if it results in a push forward of professional dialogue and information sharing  I'll take that as a win. 

Nate really is a lovely little boy.❤️

Life with ATRX is not an easy one for Nate but the good times are bloody good. 

Links: 

BIPAP- http://www.oxfordmedicaleducation.com/clinical-skills/procedures/starting-niv/

ATRX-  

http://atrxsyndroom.nl/?lang=en

http://www.imm.ox.ac.uk/atr-x-syndrome-information

GJET- https://www.gbukenteral.com/products/amt-g-jet/

International woman's day 2017

This post is for International Women's Day in an acknowledgement of the effort made by women who are carers. By no means is this intended as an insult to the many highly skilled and brilliant male parent carers out there, but many of the comments detailed below are directed to us mothers specifically, and affect us deeply. Carers, particularly mothers, are marginalised and discriminated against by cuts to health and social care budgets and a lack of affordable and suitably competent childcare providers. So this IWD I'm thinking of the mothers. The carer/nurse/therapist mothers out there. The receivers of:

"I don't know how you do it"

"I couldn't do it"

"You're amazing"

"Didn't you know?"

"Omg you gave him this! How do you cope with that?"

"Have you noticed his unusual/ dysmorphic/ abnormal features?"

"What do you do?"

"So why don't you work?"

"I couldn't work"

"I couldn't let anyone else look after my child especially if they were ill"

"You have people in your house overnight!!!?"

"You need to shout louder"

"You complain too much!"

"How do you have any time for your daughter? Or your relationship?"

"Aren't you having any more children?"

"I wouldn't have any more"

"At least you get a car"

"My sister's brother in law's second cousin has Down's syndrome so I understand"

"Can't they fix him?"

"But he'll get better?"

"I wouldn't put up with that"

"You need to..."

"You need a routine"

"Let them cry"

"I couldn't let them cry"

"Breast is best!" ( If you can yes, but I think you'll find fed is best)

"Urgg I couldn't do that"

"You need to calm down"

"We should do something about this" *gestures to my son's head*

"You need to think about his quality of life"

"I think we should let nature take it's course"

"You look well" (you got fat)

"Have you lost weight?"  (you look ill)

"I wouldn't drink"

"You can't go out like that"

"You can't/ shouldn't be feeding him that. That needs to be risk assessed, we can't support you in that"

"We don't do carer's assessments"

"No you can't have respite until he's 8"

"Well we have to follow our procedures and can't do it like you do"

"Mum thinks..."

"This is Nate's mum"

"Mum would like..."

"Mum isn't keen to have samples taken despite what it says in her story" ( utter rubbish. I refused constant clutching at straws testing and the rollercoaster if brought with it)

Over and over again.
Our every decision analysed and picked apart by other women.
Our opinions belittled and discarded by Drs and health professionals, even when it's obvious we know our children best. Typically by male doctors of a certain age.

Our reproductive choices scrutinised and controlled throughout the world by both men in power and those in our lives.

The assumption we are uneducated and naive.

There's a reason so many of us are a crippling ball of anxiety much of the time.

There is a quote often attributed to Betty White ( misatributed) that I love:

"Why do people say "grow some balls"? Balls are weak and sensitive. If you wanna be tough grow a vagina. Those things can take a pounding."

In the beginning I found it hard to voice my opinion and disagree with anything we were told about Nate. We were bombarded with information ( mostly awful) from every side. But that first time you say "no actually" is a hugely significant moment. Once the gaping stops that is ( I mean how dare you disagree weak and feeble woman who is just a mother!). From this point on you are that "awkward mother". And that's, sadly, what we need to be much of the time.

You know me, I hate the often self congratulatory shite about coping in the SN world (and how no one understands), but you know what, this once I'll give "us" a pat on the back. Especially those doing it on their own, on 60 odd quid a week carers allowance.

On this International Women's Day I stand with all women, with empathy. Not judgement.

#BeBoldForChange

No mansplaining required.

International woman's day 2017

Rare disease day

It's Rare Disease Day. Let's raise awareness!

In general, raising awareness days piss me off. I wish people would remember those affected the other 364 days a year. I wonder at any lasting legacy from these days. So many days making it almost impossible to support them all. 

Does the sheer number of awareness days actually minimize their overall effectiveness? 

How can raising awareness be of value and actually cultivate positive change? 

Let's have a think. How do we raise awareness? The simplest way is through social media. But is it through sharing stuff like this on Facebook? 

Click 'like' to send a prayer because if not you don't care! 

Share this horrific photo of a disfigured and neglected child to show you care! 

The bullies at school don't think I'm pretty click "like" if you disagree" ( usually child with an obvious additional need using a big sign). 

Look here's a photo of disabled child crying. Quick! Click "like" and "share" to show you care people. Raise awareness of disability. CLICK LIKE AND SHARE OR YOU ARE ALL GOING TO HELL! 

Here's a child on life support all tubey "share" to show you care, "like" to send an amen. 

Now please don't misunderstand me. I know when people click on these things and share them it's usually because they do care. Or want to look like they care. Or are scared of going to hell... Err one of those anyway. 

 

But I think what pisses me off about all of the above is that people think they are making a difference, that they are helping, and I'm not too sure that it does. But then I'm not a fan of shock tactics for awareness anyway. There are too many questions to be asked about how it maintains the dignity of those involved. Or if they could consent. Or is it actually a photo of what it claims to be? 

Then there's life stories. I suppose my blog fits into this category, and so do those belonging to many of my friends. However families opening up about their constant battles, heartache, or family life can end up somehow twisted into inspiration porn. People "hold their children closer", "appreciate what they have", assume we are "amazing" and "strong", and err "inspiring". They don't know how we do it. God only gives special children to special parents after all... 

Meh. 

But maybe these things do raise awareness? Even just briefly. Even just a little bit. Maybe that's good enough? For some people I don't doubt these likes and shares are a token gesture, for others it's a genuine concern and a recognition of need. 

I do think many people fail to grasp the difference between sympathy and empathy, and the significance of this difference. It's all very well balling your eyes out at Children in Need, hugging your kids then telling everyone on Facebook how upset and heartbroken you are for these families. But how does that help anyone? Can you put yourself in their shoes and think about how you would feel? What you would need or want for your family?  Yes your donations are nothing to be sniffed at but surely a societal shift towards helping and supporting vulnerable communities would actually be more practical use in the long term. 

Maybe stand up against hate crime.

Maybe support the NHS.

Maybe encourage your children to accept difference as nothing scary, and nurture their accepting nature to grow and develop. 

Maybe don't nod and agree as you hear people down the pub criticize ill and/ or disabled people with accusations of being cheats and work shy. 

Maybe object to cuts to community based care and services.

Maybe don't assume that if you haven't heard of a syndrome before, or if someone is still undiagnosed, that their issues aren't significant and life affecting.

Maybe start to appreciate that the rarer something is, the less information and support there is for everyone involved. That research into the rare stuff doesn't happen much. The money isn't there and quite often the motivation isn't there either. Rare can mean tricky. Rare can be shitty. Rare or undiagnosed can mean services, resources and equipment can be even harder to access. Disappointingly the little box you get to tick now you have a diagnosis doesn't help as much as you thought it would. The treatment or therapy options you thought you would receive don't even exist. 

In the ATRX group we often talk over the issues our boys have and there aren't any clear answers. So we struggle on. 

Ah that's why the awareness day is important. 

*toddles off to share some shit on facebook* 

School holidays

So it's half term and teachers all over the country shout "hurrah", rejoice, reach for their wine, and happily ignore that pile of marking in their boot until, umm Sunday? Parents may rejoice less so, particularly if they work and have to fight feelings of general shittyness as they miss out on the fun part of parenting and instead juggle childcare arrangements. Or maybe they are strung out trying to fill the week as expected by our competitive society with a mix of play and semi educational visits while trying not to end up completely exhausted. I'm worn out simply writing that. 

Supermarket sales of wine must go through the roof during school holidays. 

And what about parents with disabled children? How does a week without school impact this group of already exhausted and stressed out people? The simple answer is, well, as you might expect really, a HUGE amount, the main issues being:

1- Childcare

2- What to do and where to go 

Issue 1-  Childcare 

There is an assumption that this ( my) group of parents don't work. Whether it's calling to chase things up, ordering prescriptions between certain hours, health professionals arranging visits and appointments, deliveries of feeding equipment and pads, or those large pieces of equipment your child really really needs however when you attempt to barter a time, or even an AM/PM slot  with them end up made to feel like you've asked them to walk through fire. We are expected to be available, and not whinge about it. But that's another blog post entirely. 

The "system" isn't set up for us to work, let alone care for our children during school holidays. There are huge gaps in childcare provision for a start. I've seen friends try to get back to work, or continue in their pre disabled child work and have to give up or take a break from it. Those who have succeeded tend to rely on family, friends or part time and flexible working. Not to go on and on about it but the benefits of working are huge to my group of parents and their families, even without the financial necessity for many. 

Issue 2- Where to go and what to do

There is a huge campaign currently around having accessible toilets. This is something I keep in my mind when planing longer days out or trips away. Finding somewhere suitable to change Nate can be tricky. Floors are disgusting and then there's the problem of actually lifting him. I don't expect everywhere to have suitable changing facilities or for everyone to understand initially the need for them, but if you are a shopping center/ "mall"/ theme park/equivalent large business or new build it would be nice if you would make an effort. It's just good business sense. If there's a choice between two places I'll stick my neck out and say "we" ( the royal "we") would head to the one where we can change our children or family members. My biggest shock in this respect was when visiting Disney World and coping with their lack of facilities. 

I have been pleasantly surprised at the smaller venues who really make an effort with changing facilities such as Alnwick Castle and Gardens, Seven Stories and the Discovery Museum. With changing places toilets available in Newcastle's Intu Eldon Square and City Library any activity in the city centre becomes easier and less stressy. Equally shopping or taking part in activities based in the Metrocentre or Galleries in Washington become options. Frequent options. I stick to what works. I can't even begin to describe how difficult changing a non mobile mixed tone 6yo can be. If I'm being totally honest I would actually choose to stay home than have to battle with this by myself. Having Michael around helps considerably, but usually during the holidays it's just me. 

The next thing to consider is how accomodating places are. 

Are they disability friendly?

To be honest I settle for disability aware or just plain " not being a dick", but what I don't want to do is focus on the negative experiences we have had. 

This week we have taken Nate bowling at the AMF in Washington, and to a relaxed screening of Moana at the Tyneside Cinema. Both of which were made hassle free by great staff and accessible buildings. This was the first time we had braved the cinema with Nate. *milestone klaxon* We couldn't take him to a standard show as he might suddenly transform into "captain whingey pants", "mc screamy" or simply shout away happily much to everyone's annoyance. Relaxed shows in general are great. Of notable mention is the Sunderland Empire Theatre who put on a variety of shows and we are currently eying up the relaxed orchestra performance on Mother's Day ( much to Michael's dismay). Many venues taking accessible shows and events seriously have named staff who's roles are to arrange relaxed/ accessible events and gather feedback. A friendly face goes a long way   

in a society where ignorance and selfishness can spoil simply leaving the house. It means a great deal to do "normal" things. 

I feel that it's important to highlight the places who do a good job providing for people who have disabilities and their families as much of what we see on social media and in the press are stories of nightmare visits and ignorance. 

I don't like being a moany fucker. Honest!

One store we are always made to feel welcome is Lush. I do sometimes wonder if there's a photo of our family begind the counter with the tag line " engage with this lot- they spend shit loads in here", but truthfully it's probably more a reflection of their diverse staff, disability awareness, or simply good recruitment practices that mean within minutes of entry Nate is either having a sniff of something fruity or his hands in some fizz ( with our permission of course) and no awkwardness at all. We shall be invading a curtain Lush store this Friday ( as long as it's not too busy) as rumour has it they will be making some of their lovely soap bars. It's always good to be able to wheel around a store with ease, unlike our experiences in a certain sports store I'll not name where the only comparison I can think of is to some sort of fucked up obstacle course where the wheelchair user ends up looking as if they are attempting to shop lift once ( if) you make it to the other side of the store. 

So this week Thea is hugely chuffed that we've finally visited the cinema, all of us. TOGETHER. It's another small slice of normality pie for our family made possible by sense, awareness, and a bit of luck ( Nate's health). 

But that's not to say I won't be hitting the wine tonight with you all. 

What a difference a dog makes

Last September my mam's doggy Daisy gave birth to 7 mewling mouse like things. Our daughter Thea took great delight in pretty much living at her Grandma's house while helping feed Daisy, keeping the puppies clean ( she is an excellent poo picker upper) and socializing them. She thrived in this position of responsibility and formed a particular attachment to a little pup then named Sully ( green collar). 

Yes ok so I spent a large amount of time with the puppies too. But seriously PUPPIES!!  Although the one pup I didn't get to cuddle much was little green collared Sully due to the inseparability of Thea from him. 

As we approached the time the puppies would be going to their forever homes we started to consider keeping one. Not that we would have much of a choice as Sully would have had to be surgically removed from Thea to make room for a different pup. We started to weigh up the pros and cons of having a dog. It is a huge responsibility after all, and I was more than a tad reluctant. I worried we would struggle with him when Nate's health was poor, about house training, and about how he would "be" with Nate and all of his noisy equipment. A yappy or nervous dog wouldn't cope with our usual chaos and the variety of people who come to the house in their profession capacities. But here was a little girl who bloody loved this puppy, already adept at caring for him, who has quite a tricky life at times. And me, didn't I deserve something fluffy and positive? I was convinced Nate would benefit from the sensory experience of fur and a good lick. Michael was doing a decent impression of not being overly fussed about the puppies in general ( liar liar pants on fire) but came round to the idea fairly quickly, and before I did. We knew what we were taking on having both grown up with dogs and that made us pause, think, and then make a carefully considered decision. Many, many people think that we are quite mad taking on a dog. But what is one more piece of madness in our lives? 

We had made the decision a long time ago not to have any more children, even before we found out the fun fact that I am a carrier of a faulty ATRX gene which causes PMLD and very serious complex health issues in boys. I couldn't have coped with another baby, healthy or with ATRX. Not alongside all that Nate deals with on a daily basis, our constant lack of sleep, and already struggling to spend quality time with his sister. This dog could complete our family in the way only a dog can, forcing us out and perking us up when things get bad and we are feeling low. 

Sully met Nate several times at his most manic where he is hot, sweaty and bit thrashy aroundy ( very typical of ATRX boys). 

The little puppy just curled up on his lap and went to sleep. I think this was the moment I thought "yes".

Sully became Freddie and as soon as he was old enough we brought him home. 

All puppies need a great deal of socialization but Freddie needed the additional experience of our sats monitor alarming, suction machine ( he doesn't like it when the catheter goes in Nate's nose), oxygen concentrator and ventilator noises, feed pump, and being around a shit load of tubes. He has dealt with everything extremely well with the exception of a fascination with drainage bags and a few opportunistic licks of the feeding tubing. 

Thea's relationship/ obsession with Freddie was never in any doubt but I had wondered about Nate and Freddie, however the boys get on well. A bit too well. Freddie likes to give Nate a good lick hello and check how he is. Urgh. No objections from Nate in that respect. 

The real positive is in how Nate reacts to Freddie. He loves lying on his mat and feeling Freddie race over it, him, and around the room. Freddie will snuggle up to Nate giving him some comfort, and most recently Nate has started to interact with Freddie; holding toys hostage and grinning as he pushes Freddie away. Heart melting. 

US? Well we get the fluffy cuddles, enjoy amazing greetings, get to walk Freddie and play with him in the garden. I'm not going to lie the early morning wake ups after a dodgy night with Nate are quite hard, as are early mornings when we have care in and could have stolen a few extra hours of sleep. House training has me demented. One day everything is done outside or on a puppy pad, the next day there's a huge poo on the floor and I'm  convinced this is in direct retaliation for me leaving him. Then there's the weird shit Freddie finds and eats. Seriously where does it come from? "What the hell is that?", is a frequent expression when picking up poo. We've already had one vet trip due to eating plastic. There does seem to be part of Nate's mat missing so that probably explains that. 

The dog is a huge pain in the arse at times but at least he gives us something to talk about.

Our fluffy pal.