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/