Males inherit the X chromosome from their mothers, the Y from their fathers.
Williams results from the genetics testing came today and its a bit of a mouthful but… there was a variation from the normal pattern wirh interstitial hemixygous copy number gain Xp22.33. The test states there is additional genetic material.
Chromosome 22 is the second smallest human chromosome (21 is the smallest) including more than 51 million DNA sectors (they’re in pairs) and represent between 1.5 and 2% of the total DNA in cells.
There is no defined link between this and autism but there are a few case studies referring to it and those with learning difficulties but not enough research has been carried out. Its is classed medically as having uncertain clinical significance.
If it has come back as nothing detected that would have been shit but manageable.
If something would have been detected on his Y chromosome I wouldn’t have blamed Dave but I am sat here now blaming myself. After all the X chromosome came from me.
Have I done this to him? To us? The paediatrician will be booking in a consultation to discuss the results in more detail and establish if further investigations are needed but now I’m terrified of what they will say… will further investigation point the finger at me even more?
I just feel like I’m back at the beginning of our journey, like all the progress we’ve made in our acceptance and grieving over a child we thought we would have hasn’t mattered and I’m back to looking at him and crying because this could all be down to me.
I think I have been pretty vocal about how all appointments and referral seem to go round for us but I held out hope (in vain) for our most recent one, to the nappy service 🚼
Let me put a little context to this. William is 3 years old but developmentally under a year. Due to his physical age he is the highest available size of nappies. He is not currently able to be potty trained as he isn’t aware of when he needs to go toilet or if he is he is unable to communicate this as of yet.
William also suffers from a lazy bowel and it doesn’t always function and it should so mild laxatives are often needed to relieve him of discomfort as he can go over a week before naturally being able to pass a stool. As you can imagine the build up of waiting to go natural or the explosion of laxatives puts any nappy to the test but imagine this happening when there isn’t any that will fit him 🤢
William also displays sensory seeking behaviors and unfortunately this involves a fascination with his own faeces. The will result in him smearing the contents of his nappy over himself and his surroundings and on occasion he has put it in his mouth.
On a night we have had to put him in a onesie to stop him taking his clothes off and removing his nappy. Unfortunately for us the little Houdini has now learnt to remove a onesie as you can see below… thankfully he was busted in time and put back into his clothing jail.
We were worried as he gets bigger what will do and we were told that there is a nappy service in our area which provides children with special needs nappies in bigger sizes which is amazing. However nothing is ever that simple.
Let me start from the beginning…
Our GP sent a referral to the community nursing team
The community nursing team rejected this as he is under 4
NO ONE NOTIFIED US UNTIL WE CHASED THE REFERRAL
Our GP sent a referral to paediatric medicine
The sent it back to the GP with advice to refer to community nurses or the learning disability team
NO ONE NOTIFIED US AND OUR GP CLOSED THE REFERRAL
I chase the paediatric medicine team who told us what they had done
I call the GP and they tell me to call the community nursing team
I call them and they only know about the original referral and won’t accept another one as he is still under 4
I call the GP and have to tell them exactly what the paediatric medicine team have told me
SUDDENLY NOW I HAVE TOLD THEM WHAT HAS BEEN SAID THEY CAN SEE IT ON THEIR SYSTEM
They can not help as the person who deals with referral is off (I don’t think they’ve ever been in the office when I have called) but a manager of the surgery will call me back
Kerry calls me and has no idea why she is calling me. She thinks it’s regarding his autism assessment.
I HAVE TO REPEAT THE FULL CYCLE AGAIN WHILST SHE REPEATEDLY TELLS ME SHE DOESN’T KNOW WHATS HAPPENED
She is going to call our health visitor and William’s own paediatrician for help and call me back
She calls back, she has left word for the health visitor but doesn’t know if she can help. She has called CAMHS (children and adult mental health services) and they can not help. She has called learning disabilities team and they can not help and she doesn’t know what to do.
WELL KAREN (SHE IS NOW A KAREN, I HAVE DECIDED) NEITHER DO I AND IT’S NOT MY JOB TO KNOW!
She will send me some links to places that can help.
DO YOU KNOW WHAT SHE SENT ME… A LINK TO A CHARITY SHOP AND A SITE TO SUPPORT ADULTS WITH AUTISM. SO FUCKING HELPFUL!
I found it hard not to cry or be angry whilst on the phone with Kerry/Karen and I’m sure she could hear the break in my voice when I asked her ‘what are we supposed to do now?’
And that is the question, what do we do now?
We can’t be the first parents who have come across this, we can’t be the first to be in this situation. What happens when you fall into the gap? Do we just stay there for 8 months and have a bare bottomed child or tie a carrier bag to his waist?
If I failed to change and clean his bum for him when he was physically under a year old then I would have been classed as neglectful but what about now? He isnt physically under year but developmentally he is still in the same place. Am I being neglectful? Or are the services in place being neglectful by allowing this?
People often struggle to differentiate between a child with autism and a child who is being naughty.
As a parent who suffers with anxiety it is very difficult to go to certain places and deal with other people who don’t know William like we do.
Something as simple as a journey on a bus can set me into a tailspin, a small journey can lead to an argument due to the fact other passengers look at William as see what they deem as an ablebodied 3 year old in stroller taking up a space they feel someone else needs more. Not all disabilities are visible and what give you the right to assume!
A trip to a supermarket can lead to a full meltdown due to the hustle and bustle of different people, a different environment, bright lights and loud noises. One the rare occasions he will walk, he will often end up laid on floor and go floppy because he can’t handle the stimulation and lack of familiar surroundings and comfort. This is not a toddler having a tantrum because he can’t get sweets or doesn’t want to walk, its because he is in pain.
When we go to a restaurant, cafe or bar he will beeline for any food he can see, we will stop him before he takes it but it can lead to awkward conversations, dirty looks and whispered remarks. This isn’t because he isn’t fed at home or because he is rude. This is because food is such a high motivator for him and that the fact it doesn’t belong to him doesn’t even register.
I shouldn’t have to apologise for my son for being himself but I find it becomes a more frequent occurrence as time goes on. I shouldn’t have to explain why he is the way he is, there should be a wider understanding of the autism spectrum leading to acceptance.
I truly believe that autism awareness and understanding should be educated in schools so that future generations don’t make the same mistakes and assumptions. There are no definitive figures of those with autism as no record or register is kept but based on recent surveys 1 out of 100 has autism.
Think of the children in your child’s year at school, think of the children who you went to school with. I wish I had been more aware, more educated and a better person.
I want that for the future, for children like William and for parents like us who often feel we should apologise on behalf of our son when maybe, just maybe they should be apologising to us for their small mindedness.
Its nights like these I really wish autism was a physical being so I could kick the shit out of it. I fucking hate you autism you son of a bitch!!!
Its 11:30pm and William is still awake. He is calm and comfortable watching TV in his room. Before anyone jumps on the too young to have a tv in his room please remember that the only thing that can soothe William is the wonderful invention that is BabyTV and even then that’s only works some of the time. Could you imagine my neighbours during his frequent 4am screaming fits without it?
A little while ago it was a completely different story. William had spent the last half an hour or more hitting himself. Believe me it felt like a fucking lifetime. He doesn’t have a massive amount of strength in his arms so one little slap wouldn’t necessarily hurt anyone but he continuously slaps his stomach or legs with both hands until they are red. It’s really difficult to watch and if I try to restrain him he will lash out and bite me or become even more upset. And believe me when I say this he has the strength of a pitbull in those jaws.
Its these moments in which I feel like a huge failure as a mother.
I have tried everything to pull him out of these self harming states but nothing works so I tend hover in the hall or in his room and try to distract him but often just watch him and cry.
It makes me feel like an absolute failure as a mother. I’m supposed to protect him when someone hurts him… what am I supposed to do when he hurts himself?
The worst thing about this evenings episode was the reason he was hurting himself, it was something as simple as needing a poo and then the discomfort of needing changing afterwards. This has never been a cause before tonight and he is on medication to help him go but for some reason tonight it was an issue for him.
I need someone to blame. Someone to shout at. I write often about accepting that we are not to blame for William having autism but it was easier when we did think it was us because it was easy to direct hate at ourselves.
Who do I hate now? The diagnosis we still don’t officially have? The genetics that he may have inherited? The fluke that may have caused it? God? I just need something or someone to be mad at! I just need a reason… Why?
I always thought I wanted two children but once we actually started trying to get pregnant I soon changed my mind. I have a sister (H) and although we argued; like sisters do but I couldn’t have imagined my childhood without her or even my life now. Dave however always wanted just one. He too has a sibling but not with a bond like H and I have and maybe that is why he only ever wanted one.
We agreed we would discuss it again when William turned one… Still only wanted one child. We will discuss it again when he goes to school and again when we turn 34, after all I wouldn’t want to fall into that geriatric mom category of 35!!! since when was 35 classed as geriatric?!
I always said that I couldn’t put myself through it again but I get this little pang when I see my friends with their ‘normal’ or neurotypical children. Surely I deserve that? Why can’t I have it? All those moments I feel like I’ve been deprived of… A baby who will call me Mummy and will be receptive to my cuddles. A baby who can be comforted by me. A baby who would love me back.
Facebook is the root of all evil… & envy, its banner should be green not blue! I see so many beautiful babies and children on my news feed. Children much younger than William easily communicating with their parents and making it look so easy. Children singing, counting and developing at the correct rates and it breaks my heart 💔 I am so happy for all of my friends who are parents and why shouldn’t they sing it from the rooftops when their child learns something new. It just gets to a point that I just can’t see it anymore. I have un-followed so many people because I am just brimming with jealousy and it hurts me to admit that because I would never wish any parent to go through what we are but I just want what they have. Why can’t I have that?
But then I look at William who has started eating bread, not toasted bread or chocolate bread but normal bread and I want to celebrate it. He ate a sandwich!!! not one but several! My little man who is repulsed by the touch of bread actually ate a sandwich himself 🤭 But then he also decided he didn’t want to wear any clothes at all and chose to ignore me for what feels like the 1095th day in row.
Before i continue i just want to say it again…. My baby ate a sandwich, not once but on three separate occasions last week!!! He touched bread and it didn’t end in him throwing it on the floor and recoiling in disgust. It was a beautiful sight as you can see.
This week I called my mom very teary because I had ‘that moment’ a moment most parents have every day. me and William had spent the day I the garden and needed a bath but bath times are traumatic at best so I decided to turn the shower head on and sit underneath it with him. He laid there so calm as the water rained down on us and looked me in the eyes the entire time. That moment is something I had been waiting for for 3 years. That moment he looked at me and everything was fine. That moment I knew he did love me but shows it in his own way.
If I don’t get another moment for the next three years I can hold on to those perfect 10 minutes in which he just looked at me and with his eyes told me I was doing OK as his mom.
I think about how William would react to a sibling and I always (well 90% of the time) think it would be really selfish of us to even consider it. William needs a lot of attention and he would not have that like he does now. I don’t think he could cope with the immediate and permanent changes to his routine. You couldn’t train a baby into doing things the way your older child needs/wants them to be done.
But then… I think maybe just maybe William may flourish with a sibling. Research shows for neurotypical people that having a sibling can have a positive impact on both mental and physical health. However separate studies based on siblings of autistic children clearly show that the neurotypical child often develop social and emotional difficulties. Would there ever be enough time to give a second child the attention the would need or deserve? I look (again with envy) at other parents who are in a similar situation to ours and wonder how they make it look so easy? so effortless? I often think of these parents as ‘the Naturals’ whose days are exhausting because they have spent them being the truly amazing parents that they are. I’m an ‘Impostor Parent’ and am exhausted from spending my days trying to be an adequate parent.
I think of the trying, the pregnancy, the complications, the labour and the mental health issues that came after and I just think ‘Fuck it! lets get another dog!’ but then I think of how often Rusty used to shit on the carpet and think better of it. I clean enough poo from the floor as it is. I think it’s best off just staying the five of us… well four ifI get my way about that arsehole cat. (totally kidding as i was heartbroken whilst he was missing 🐈but still an arsehole)
Today was a great day! Today was Harry’s birthday party; the first party William has been invited to. I do worry that he won’t get many invites as he gets older due to his antisocial behaviour and his tendency to become overwhelmed.
I’m not going to lie to you as that isn’t what this blog is about. As you can guess today like most days started out badly. William had smeared the contents of his nappy everywhere 🤢 and when I tried to change him he repeatedly hit me with shitty hands and when I tried to stop him he bit me. I had to wake up David to help… not what he needed after a night shift but needs must😴 Breakfast wasn’t eaten, well not by William anyway. Rusty thoroughly enjoyed his toast this morning and William enjoyed trying to take a chunk out of my leg when I dared to take his plate away.
Once we were out of the house things took a much better turn. William was calm and happy which is always my favourite version of him. Don’t get me wrong I love every version of him but this one is just amazing. The happiness in his face is one of the purest things I have ever seen and even now when I hear his little laugh I well up a bit.
The party itself was at Hull Community Church which I must say was a brilliant venue. They have an amazing play area in the back which is like a imagination role play wonderland. It was a bit overwhelming for William who chose to be sat with me in the hall the entire time but it was amazing watching all the kids have a ball.
I worry about going to places like this with William incase parents make comments about him or he goes into full meltdown mode and they judge me for having a ‘naughty’ child but they were great and no one made us feel uncomfortable which for people that don’t know us is wonderful especially when we’ve learnt people close to us aren’t always that nice.
On his good days William has a big attachment to food. On his bad days he won’t eat at all but today wasn’t a bad day. As soon as the buffet was out he was there like a shot wanting popcorn. Thankfully Danielle and Simon have spent enough time with us to understand his attachment and happily gave him a plate full of popcorn.
I learnt today that William isn’t fond of the loudness that comes with lots of children who are in full blown party mode but he handled it so well. He rubbed his ears a lot but just cuddled up into my lap until they went back to play.
He even chose to eat a sandwich! Which is a massive deal for William as he never touches bread as he can’t handle the texture but a cheeky egg mayo sandwich called out to him and he just grabbed it and wolfed it down… well not just one but 3! I nearly cried. Something so silly as an egg sandwich brought a little tear to my eye.
Toward the end as he was getting tired he became grouchy and when I had to put his shoes back on so that we could leave he started hitting himself but thankfully this only lasted about 30 seconds. 🤞
I don’t know if any of you have seen the original Series of Unfortunate Events with Jim Carey but at one point William was hanging from the dining tables by his teeth doing a Sunny Baudelaire. Not many parents have the pleasure of telling their child to stop eating the table. 🤣 We also narrowly avoided him biting into a balloon. 🎈
Once the party was over we went back to theirs to watch Harry open his presents and other than munching on a few envelopes William was content watching him and he enjoyed the rest of our day relaxing and playing with Harry’s trains. He is very comfortable with their little family which makes me feel less worried about his future and the level of understanding people have.
Its been a tough few months recently, William seems to have regressed in his behaviours and seems to be lashing out at me more than usual. Not his dad just me… what did I do? He purposely scratched my face when he was frustrated which I’m not going to lie hurt like a motherfucker! the valuable lesson I have taken from this is to make sure I keep his nails short however cutting them is an awful and thankless task. Imagine if an octopus had claws on each tentacle and you had to avoid 7 of them whilst pinning the other one down, that’s what its like cutting his nails. Except that the octopus is screaming and biting to get away from you.
We have had a full on meltdown because I wouldn’t let him eat ‘another’ packet of Parma Violets. He went to find more and threw them all over the floor before throwing himself down too and refusing to get up… I tried to lift him but he’s very smart and makes himself go all floppy! considering developmentally he is less than a year old he does show some terrible two’s traits which we were told is a good sign (insert eye roll here 🙄)
His sleep is very disturbed now. From the moment we brought him home from the hospital he slept for 7pm until gone 10am and we had to wake him up not the other way round. People called us lucky. I don’t feel lucky anymore. He goes to his room at about 7 to 7.30pm and precedes to destroy his bedroom for a good hour or more. Draws opened and emptied, everything he can physically reach ends up on the floor and in pieces. Juice everywhere and if we are very ‘lucky’ he will often smear the contents of his nappy around the room. Three times in a week we’ve had to hose the boy down in the shower and disinfect his room and carpets ready for the next day… we go through a lot of sheets and a lot of wash powder. The washing machine is always on.
Speaking of hosing the boy down, its a 2 man job to bathe him. It sounds awful but it takes one of us to hold him down and the other to clean him. He needs to be held because he starts having a meltdown and can fall and hurt himself. To put it into context some days I feel that bathing a feral cat would be much easier and less painful for all three of us.
He has gotten to a stage now where he doesn’t want to be wearing pants… he will squirm and kick out when trying to put either a nappy or trousers on him and when they’re on he will walk round in circles trying to pull them off until he has succeeded. This was cute the first few times but once he peed all over my Nans DVD player it wasn’t! I thought about braces for him but he cant handle restrictive items so I’m not sure if that is the way forward? I suppose it is just going to be trial and error.
His follow up appointment at the eye hospital has come through to double check his vision. That’s in likes a week time, I am praying they don’t need to use the drops again as he couldn’t handle the disorientation last time and was a nightmare with his saucer like pupils 👀
His return to nursery after the holidays went just as expected. He clung to Dave for dear life despite often not wanting to come home. He has become accustomed to his non-routine over the Christmas break and didn’t want to be away from us. Dave had to spend an hour at nursery trying to calm him down.
I think the support available now from other parents in similar situations is amazing and one of the main reasons I started this blog. There are groups to arrange to meet up or if like me you are antisocial there are just groups to read other experiences and ask advice and support of those who have already been there. There isn’t enough support professionally which can leave people feeling alone and isolated, don’t get me wrong the nursery and Williams health visitor have been amazing but there doesn’t seem to be anyone else at this point in time which is daunting. It feels like it is one person referring to another to another and so on. It feels like they’re passing the book so to speak. I know this isn’t necessarily the case but so many people need to be involved before something happens that it feels like a never-ending circle.
We have an appointment a week for the next three weeks so hopefully we will take a step forward soon. Even if it’s just a baby step 👣
By Emily Perl Kingsley, 1987. All rights reserved.
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away…because the loss of that dream is a very very significant loss. But…if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.
I have always worshipped my Dad. I always wanted to gain his approval. It’s not that I didn’t already have it but I didn’t want to risk losing it. I waited until I was married before we started trying for a baby, You know the ‘right’ way.
I spent summers walking around garden centers with him as he picked out new plants for his pond, I spent nights listening to Jim Reeves and Johnny Cash and he used to let me stay up late unless I yawned… as soon as I yawned it was time for bed. This was a great trick I planned to use in the future.
My dad was the only boy out of three. He had an older sister and a twin sister. His eldest sister had a daughter, His twin had 2 daughters and he had Me and Helen. Helen then had my beautiful Niece. When we finally fell pregnant I was desperate for a boy. I had always wanted a little boy, I’m not sure why but deep down I think it was secretly for my dad. I tried to convince myself we were having a girl so that when our 21 week scan came round I wouldn’t be disappointed.
Now I don’t know if you have ever seen a baby scan at 21 weeks but they dont look anything like a baby. In fact William looked like an alien 👽 the print out we received was a close up of his terrifying little UFO face. As you can see he was cute and peanut shaped in his 12 week scan above and developed into E.T over the following 9 weeks. We didn’t even need to ask what sex he was because the little exhibitionist that he was had his legs open the entire time, every time the sonographer tried to obtain measurements of different areas he moved to once again show us his little todger. 😲
Holy shit we were having a boy! We were having a William Graham (my dad’s middle name and Dave’s dads first) and not an Alyson Rose. We immediately went shopping and purchased every blue baby grow we could find at Next, Matalan and Asda 💸
I called the Hobmans and dad had said he knew one of us would break the curse eventually 🙌🏻 I was so glad it was me.
I had visions of my dad taking him fishing, Dave taking him to watch Hull FC and eventually enrolling him a rugby club. 🏉
Throughout our journey so far I had avoided discussing it with my dad, I don’t know why. Would he blame me? would he treat William differently? would he even understand? My mum had always been the one to give him any updates before I shared anything publicly as I wasn’t ready for that conversation until it appeared in black & white and she asked me if I was telling him myself… and I did. I made that phone call and held it together long enough to tell him what we knew which even though it wasn’t alot, was still enough. I don’t remember the exact conversation but my dad, who has never been a man of many words simply said something along the lines of ‘Well it doesn’t matter does it. He’s happy and that’s all that matters and has two parents who are doing a great job’ conversation over. There was an immediate relief that rushed through me and I sat a cried. Not silent tears but loud, snotty, messy ones. I couldn’t even explain why I was crying and Dave just held me.
My dad has always had William few hours each week until I get home from work. They both seem to really enjoy this time together as they are always snuggled up when I get home as you can see below.
Tonight I took a leap and I went to see my dad and for the first time we spoke face to face through Williams next steps. He was so positive and encouraging. I’m not going lie, It took all my strength to hold it together and not cry.
I feel guilty about thinking he would be any different. He had never done anything that indicated he would be but in my head we were letting him down. Even though I am now 30 I still need him to be proud and tell me everything is ok.
He treats William the same way he always has because his difficulties don’t change anything. He is still our son and his grandson and if my mum voiced her suspicions to him like she did me then he probably knew William was struggling long before I could admit it to myself.
They can still go fishing 🎣 or do anything else a grandad does with their grandson; They can kick a football in the park, walk Rusty together (as long as William picks up the poop 💩) or as time goes on, go to the pub where my dad can hustle him at pool like he did with Dave and my Father in Law 🎱
I think a lot of my fears are down to my own insecurities which I then project onto others in an attempt to appear stronger than I actually am but I think as time ticks by I am getting better at being more open not only about Williams needs but also my own emotional ones.