30 November 2016

Chapter 3 - The Symptoms

A Journey Into the Unknown
Ok, I'm taking a risk with this next chapter; I'm opening up completely, the truth of how I coped with a very challenging little girl and the awful cycle that we got caught up in. Please remember that this is happening daily, people are so sleep deprived and frustrated that they are not thinking clearly, a dark fog has settled over life in general and nothing is shifting it. I don't pretend to be the perfect parent, what actually is the perfect parent? I'm not entirely sure that one exists. This was a time in my life I can honestly say that I am pleased is over. We weren't being listened to and unfortunately, some people just break. I did break at this point in our lives. I am a much better person for that now though and have learnt from my many mistakes. What I am trying to say is, it doesn't matter whether your opinion on this chapter is negative, I already know that my parenting was failing at this point, so please be kind.

Symptom 4, 5, 6, 7.
At just over 15 months my daughter started walking and beginning to “play” Or more appropriately put, annoy the hell out of her brother. Whenever he was playing, - and Duplo bricks were his favourite things to play with – she would just follow him around wherever he went and she kicked apart or ran off with what he had made.
She would pick up objects and smash him over the head with it out of the blue.

She was very disruptive and violent. When we were in the house she wouldn’t be interested at all in playing with her toys, (Of which she had plenty). She would not be content to just look at a few books or play with some blocks whilst I did some washing or some vacuuming, and she wasn’t interested in any TV programmes. She would rather do the housework with me and followed me everywhere. Even if I sat down to play with her or read her a book, her attention span was so limited she would just run away and find out her brother again and become violent to him. 

He started to avoid her.
She would bang on my bin with wooden spoons; she would get tissue paper and stand for ages wiping the condensation off of my windows. She would lick them. In fact, she used to lick a lot, She would spit all over herself when she was frustrated like a dribbling type of spitting and her growling was awful.

Symptom 8

She used some words when she was little, not many but she could say 'mumma', 'dada' and a few others, but by the time she got to between 18 months and 2, all I heard was grunting, screaming, scowling and the most prominent noise she used was a growl. You knew when something was wrong because all you could hear was her growling at someone. There were hardly any words anymore. She had regressed and I didn’t know it at this point but children regressing should have been a big red flag where there is a concern for autism. Still, at this point, I didn’t even know a lot of the symptoms. I mean, I had read about it, but just knew about the symptoms listed on the websites, and not the ins and outs.
At some point, I said to Kenny, “I’m going to the doctors with her, her behaviour isn’t right." She was different somehow. She didn’t understand right from wrong. Nothing had meaning to her. I tried the naughty spot; I mean, we were there for two weeks and still it was taking 100 times to get her to stay there and even then it was only because she had fallen asleep.

So we gave up.
I think she was about 2 years when I finally went to the doctors about her behaviour. I had taken some online autism quizzes, I had read up about autism, A LOT. I went in there and I told the doctor all about it. We had already had two diagnoses in the family by now, one with classic Autism and the other with Aspergers. I told the GP the family history and all of her symptoms and the challenging behaviour she was displaying, and actually saying it all out loud to someone was a relief and I didn’t realize how long that initial appointment would take. I felt stupid though, she was smiling, she listened, she did some things I asked of her, and she was social. But I just knew in my heart that it was deeper than those things. And then the GP listened to her chest because she had a cough and I asked him to make sure she was ok. At this point, she was restless and just wanted to become the doctor. She took his stethoscope, which he happily gave up, most probably for his sanity and she climbed on his lap, pulled up his shirt and started listening to his chest, I was so embarrassed. She was overly social. So the Doctor listened, but wouldn’t refer us to CAMHS (Child and Adolescent Mental Health Services) - he said it wouldn’t be fair to send a child this age to a mental health service because it would stay on her record for life and he didn’t want to hinder her future.  It scared me a little, so I agreed and just went home a bit confused. Was he saying she was mad? I didn’t quite know but anyhow we were referred to the Health Visiting Team who was going to come and pay a visit and spend some time doing some observations on her.

Symptom 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, & so on………..

So at this time, I was pregnant again with my youngest little girl. It was about March/April when the health visitors started visiting so I was about 20 weeks pregnant and I was absolutely shattered. Worn out to my very core. Kenny would walk in the door at 5pm and I would hear his key turn and I would quite literally be passed out by the time he walked through it. He would have to do dinner and bath and bed. I used to nap in the day too. How you ask me? Well by this time she had an obsession and I love this video so I’m going to share it with you. It was a 20-second video of her singing 'Baa Baa Black Sheep'. Or trying to! It’s the cutest video in the whole world. But I would give her my phone and she would play it over and over and over again for about an hour. If she couldn’t watch it she would breakdown, there was something about it that grabbed her attention so much that she was never satisfied unless she had watched it dozens of times. 

(Excuse Stanley calling her stupid at the end of this video)

She was so full-on at this point, all her and her brother ever did was argue (nothing changes) But I tried to help him understand but he was only little. I shouted a LOT at this point. I’ve never smacked my children. But I used to lose my temper with shouting badly. All day every day all I did was scream at them. I hated the sound of my own voice. I hated myself. Every time I went to bed I would spend at least an hour beating myself up for shouting, thankfully I have learned from that now and I’m a much better person because I understand more than I did before. I’m not a perfect parent, yes I shouted, but I love my children unconditionally and I was so sleep deprived that it was torture. I was heavily pregnant and very, very tired. My eldest boy had withdrawn from me completely at this stage. I had alienated him. He was put second. She was first. Everything I did it was for her to keep her calm, to stop her screaming. She screamed and he got told off! I couldn’t help it; I was in a really bad cycle. I thought he was intelligent enough to understand. He was. But I shouldn’t have dealt with it this way. He may have been intelligent enough but he was a kid too. He wasn’t allowed to be himself. He was trapped inside a house with a pregnant, screaming, neurotic mother and a wild-child. Says it all really doesn’t it? I will never forgive myself for him losing two years of what should have been fun, memory making, exploring the outside, free, years.

I couldn’t breathe. I was lost!

She was a lovely health visitor and so kind. She could see that she was hard work but openly admitted she couldn’t pinpoint anything particular because of how social she was. She was so social. When the Virgin Media engineer came round to install the TV she asked him if he had a willy. Then when he was leaving she asked for a kiss. I just had to explain to her that he was a stranger. She didn’t have a clue she had tuned out and was bashing Her brother again with the brand new remote.

She used to ask people a lot if they had a minnie or a willy. I’m not quite sure why. But looking back maybe it was a literal thing. When she was first noticing her brothers’ body parts were different I had explained that boys have willies and girls have minnies. Maybe she was just wondering if it was a boy or a girl! She used to get too close to strangers when talking to them and really stare at them. I used to have to move her back a few paces, and she did this with her friends too. She is still the same, completely unaware of personal space.

She had become very violent by now. She rarely hit me anymore though. I think she knew I was the one and only person who knew her and was able to get her or do for her what she needed. But one day as we were playing on the floor she was quite happy but she switched very suddenly and stamped on my belly! It was excruciating. I was so upset. I had had miscarriages before so It made me really, really paranoid. Most of her violence was aimed at Kenny and she used to punch or slap him around his face so hard. One time I saw it and I realized why she was doing it. It was because when he was speaking to her he was on her level looking her directly in the eye. It made her uncomfortable. No one should ever make anyone with autism look them directly in the eye unless they want to. I don’t care if they want respect or whatever it is you just don’t do it. She didn’t like it. He was invading her space and at this time her eye contact was sparse. He stopped doing it. She stopped slapping him. And actually, her eye contact is brilliant now unless she’s having an “AUTY” day. Sometimes she can appear normal to us and other days it's so obvious it's unreal.

So the Health Visitor came and listened and watched. She played games with her and all she wanted to do was take her notepad and pen and draw (again, nothing changes).

Eventually, after about 9 months she referred us to the paediatrician. 

But she said a definite NO to Autism.

She had her own special routines she liked. It wasn’t anything specific in the day-time but our bedtime routine was very specific. I would give her a bath, put her pj’s on and get her milk. Then I would lift her up and do ‘rock a bye baby’ and when the cradle fell I would drop her into her bed and say good night kiss and then immediately leave the room. God forbid I got any of that routine wrong because we would have to start all over again and she wouldn’t be getting to bed for hours!! This was when she was still in her cot. At 2 ½, by the way.

She has severe sensory sensitivities. She hated her hair being brushed. Would scream so loud I was worried my neighbours would call Social Services. Actually, I’m surprised no one already has - she has some lungs on her that girl. I mentioned to the health visitor about her hair and she decided to test it. Bearing in mind I'd already done it so it wasn’t knotty, And she’d given Lola her pad and pen so Lola was in role-play heaven. She proceeded to brush her hair, and I swear She did not even murmur!!! Geeesh give me a break eh?

Her sleeping habits had properly deteriorated by this time. There I am, just about to drop at 9 months pregnant, and she was up and down all night screaming. She couldn’t communicate with me. She didn’t know what was wrong with her. But she went to sleep fine, out like a light and then 20 minutes later she was up screaming and this lasted until well into the early hours. Again I just bloody well got on with it, maybe I was still on auto-pilot at this time? Who knows, but after a while, it got to me. I started getting ratty at her in the night. I was like a walking zombie. That didn’t work. So I just held her and laid her back down when she was asleep again. Half an hour later I’d do exactly the same thing. For months and months and months I had not had one full nights sleep. Kenny couldn’t see to her because if she even heard his voice in the middle of the night all hell would break loose.

So we were referred YAY!!! 
Surely the proper professionals would see what I saw?

Wouldn't they?

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29 November 2016

Chapter 2 - The realisation

A Journey Into the Unknown.

To all those of you who have had babies, you will instantly understand this feeling I am about to describe, and for those who haven’t had children yet, just wait, I’m telling you, it’s one of the single greatest pleasures in the world.

When your baby, your little tiny bundle who has practically only learnt three things in its short little life: to eat, sleep, and cry - giggles for the first time; that all important, from-the-belly giggle that is so unexpected and infectious it makes you cry with joy and you have to make yourself stop laughing so you can hear it properly……

Symptom 1

Do you know that feeling? If so you will treasure that memory forever and if you’re not quite there yet, Just wait for it, because there is nothing more joyful than an eight week old baby who can barely even move making this sound. Some of you may even have managed to film that first giggle on your camera, like I managed to with my youngest. Its something everyone talks about.

‘Remember when she giggled for the first time?’

Imagine not ever having that ‘first time’ with one of your children? Not hearing them giggle from the belly, hearing that sweet sound that you could listen to forever. We tried so hard to make her giggle and in turn she tried so hard at giving us that pleasure but for some reason it just didn’t materialize. Were we to blame? Weren’t we funny enough? Why wouldn’t my baby giggle? 

We exhausted ourselves trying.

We tried Peek-a-boo and making really ridiculously silly noises - still nothing. What was wrong with us? I had no idea. It was completely devastating. Sometimes she gave a meek little laugh which we got so excited about and then as quick as a flash she wouldn’t/couldn’t giggle fully. At the time I never realized it could be a symptom of anything, I just thought we weren’t that funny. The more we tried the more upsetting it became. Especially when you have other people in your life, friends and family with children of similar ages hitting these important milestones. There were more of these, rolling and sitting, crawling and walking were all delayed. One of my best friends had a baby 9 months after me and he had caught up with her quite quickly. 

Looking back at pictures of them together makes you realize how behind she actually was. At 14 months she was just like a baby, she was still tiny and hadn’t walked yet, would just roll around on the carpet dragging herself along the rug like a soldier in combat.

Symptom 2

I’m not completely sure at what age it was that her behaviour took a turn for the worse, But I can specifically remember saying to mum once, 

“ I'm sure she has autism you know.” 

It was a throwaway remark that I hadn’t even thought about before, and it festered and festered. I was parked outside her house and I was trying to practically wrestle my 1 year old into her car seat. She was kicking me in the head, head butting me, slapping my face and pinching me. Finally she was in and she couldn’t hurt me any more so she turned on herself. Mainly on her arms; she would rest her teeth on her arms and push pressure on the arm until she hurt herself, or she would slap her forehead really hard. You know when you see women in the car park bargaining with their children to just stop going rigid and please get into the seat? That was us. But imagine this: every single time you tried to go out in the car or for a walk in the buggy you would be beaten up, mentally and physically. It didn’t stop once the buckles were locked, oh no we would have screaming until she choked, she would take off her shoes and throw them at me whilst driving. I just got on with it.

Life in general was one massive battle but it became normal for us.

I ignored her, strapped her in whilst after the 5th time of being spat on that day I cried inside. No one could see the tears while I was driving, crying silently, a sob escaping now and then. I was tired. Eventually we just stayed in. I couldn’t take the pressure anymore. It was easier to live in our own bubble, doing what we wanted when we wanted. I still take her shoes off now when we go out in the car for fear of them being thrown at me whilst driving. I couldn’t understand it; Stanley was so good, so laid back he was horizontal. Why was my precious little princess so demanding, so controlling, violent and emotional? What had I done wrong?

She wasn’t given any chocolate, sweets, or juices and we ate healthily. It must be me. I was a bad parent. And that throwaway comment I made to my mum that was festering in the back of my mind made a re-appearance. Could she possibly be autistic? 

Nope. She had eye contact and was social. Definitely not!! Don’t be so stupid!!!

Symptom 3

She only got worse. By the time she was walking, she also learned how to undo her car seat belt and buggy straps; I mean this kid was like Houdini. I swear we went through three car seats and numerous buggies and each time I would say to Kenny “don’t worry she isn’t getting out of this one, I’ve tried it and its stiff for me” Pah! Within three minutes she was out. She had no danger awareness either so would just escape whilst I was driving. I didn’t know then what I knew now about Sensory Processing Disorder. If I had known I could have used distraction, made it more comfortable, understood her needs and helped her more.

Instead I was clueless. 

She hated being confined, hated being strapped in and hated the feel of the straps on her shoulders. It physically hurt her. By age two she wouldn’t even entertain getting in a buggy, and she wouldn’t hold my hand either. She would scream blue murder on the street I was hurting her. I had to drag her everywhere. I couldn’t let go of her hand, as she would just run away. She was a runner! Eventually I just used to run with her because it was easier. You see what I mean about being controlling? She controlled our lives from day dot. I walked in whichever direction she wanted me to walk in; I drove whichever way she wanted me to drive. I stayed up cuddling her all night, because even after a full on day with her she would not sleep, well she would but only in my bed in my arms with her head touching my head. 

I remember even then how well we used to fit together her little forehead rested perfectly just in between my eyes on the bridge of my nose; yes, we were that close, all night every night. God forbid I tried to sneakily change sides with Kenny for a break and a ten-minute nap. All hell would break loose and then we would have to start all over again. It was so draining; she was slowly sapping away my strength, my patience, my joy and my happiness. It was all being sucked out of me. I was just on autopilot most of the time, functioning because I had to.

At some point in between all this we moved into a house, from a flat so the children had their own bedrooms. But before they could go into them we needed to decorate. I wanted Lolly to feel safe in her own space, and her brother to have his own getaway, so we moved them both into our room whilst we did it. Big mistake! She was such a light sleeper when she was asleep that just me turning over would wake her. The boy slept through anything. But she would wake all night and not stop screaming until I put her in with me. It was nice to snuggle at first but then it just got ridiculous. She was like a little monkey. Clinging onto me throughout the night so I couldn’t move. I tried my hardest to sleep but couldn’t.

When her bedroom was finally finished she hated it (arghhhh!) so we tried controlled crying! It worked after a few nights but she would still wake up and get in with me. I couldn’t make her shake this habit! She was three years old and still sleeping in a cot at this point. So i changed her bed hoping it would help.

Eventually something changed and she started sleeping properly in her room for the first time. I was even more shattered than before, not knowing what sleep felt like, sleep tired me out! That didn’t last long anyway, but we will come back to the sleeping habits soon.

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26 November 2016

Chapter 1 The Beginning

A Journey Into the Unknown.

My body hated pregnancy; I, however, loved it. I loved the feeling of my baby kicking and dancing about inside of me, I used to watch and film my tummy jiggling about for hours. I would know exactly where and how they were lying. I am that person who has about 20 photos of the same image, just in case I missed it on the first shot. 


I loved the Unknown, not knowing the sex of the baby, and if I could have just paused that moment in pregnancy I would have! The excitement of the surprise was consuming. I had my boy already, and he was perfect in every way; such a little charmer, a polite little boy and he was so clever. He amazes me every day. He grew into a little man way too quickly for my liking but he was my absolute best friend in the whole world. 

That was about to change and it took us all by surprise. When I finally went into labour four very long days after my due date - and I say finally because I was having contractions stop start for two weeks (and before you think it, NO it categorically was not Braxton hicks) - she was born within a few hours and so quickly that we were all in shock. She was distressed somewhat and had swallowed some meconium. She had to be slapped a few times on the back so that she could catch her first breath and after a few seconds, which felt like hours, she let out such little squeak of a noise it sounded like a little mouse. If only it had stayed this way! 

She slept like the proverbial baby from 12 am until 6 am. I was so tired so I let her sleep and no one came to my room to tell me otherwise. She was coughing through the night and in the morning there was some yellow bile on the sheets but the midwife wasn’t too worried and we were sent home where we had lots of visitors - it was fun!! 

 I say that sarcastically because after just giving birth to something that should not logically be able to fit out of ‘there’, the last thing you feel like doing is hosting guests!! So off goes Kenny out for a while and leaves me with a house full of people; I mean, I can barely move, I can barely sit, I don’t really know what to do with myself, but I get through it. She was perfect, my 5lb 15oz of perfection. My little lolly pop, my princess, I was in love with her. From the moment she was born I felt this crazy amount of emotion for her.
The bond was absolutely immediate. I adore new born babies and I could have ten of them, the way they smell (when they haven’t got a dirty nappy for the tenth time that day, obviously) The way they look when they sleep, their total innocence. The fact they are completely and utterly dependent upon me. I wasn’t great at sharing my babies. I’m not going to lie I found having visitors really hard with her. Maybe it was baby blues, but I just wanted to be left in my little bubble and snuggle her all to my self. I did share her though - it was only fair because she was just too beautiful to hide away. I look at pictures now of her when she was a newborn and I feel a pang, like a little rip in my heart because we were blissfully unaware of the struggles we were all about to face. 

Everything was fine, she was healthy, she was my little Lolly and I can still feel that feeling I got when I used to hold her in my arms and put my nose to her hair (what little bit she had) and smell that incredible smell that makes your heart skip a beat! Then I bring my self back to reality and I look at the gorgeous 5 year old that has had all these struggles in such a short space of time, and that little rip in my heart immediately heals. She’s still my dolly, she is still that bundle of perfection that was placed in my arms, which I had such immediate, unconditional love for. 

It wasn’t long until her lungs opened up! – That little mousy squeak didn’t last very long - I breastfed her, then part breastfed until I couldn’t take her constant clinging anymore, I had no support from professionals, and I mean it was day and night and night and day and I was utterly exhausted. She would not leave me alone, When my mum used to pop round she always used to joke, “do you ever put that baby down?” Well, actually, no. I couldn’t - she wouldn’t let me - she was glued to my hip. My poor little boy was missing out, I had no time for him; my best friend was lonely and fed up.

I’m not normally concerned for my own well being.

At that point I knew I had to give up breastfeeding and not just for my own sanity, but for him too, it just wasn’t fair on him; he needed me. After switching from breastfeeding to the bottle full-time, she started screaming, all day and all night, quite literally until she was sick. I didn’t know what was wrong and we used Infacol and gripe water, until finally I took her to the doctors who prescribed her some Gaviscon. She was so bad that she would literally cry until she was sick and then once she was sick she was fine. That is until she was fed again and then the cycle started all over! It didn’t stop at the sickness though she used to choke and sometimes just on bile but she would go blue and floppy and stop breathing and it was awful.

There was this one time when we went to Wales to visit Kenny’s dad, she was 6 weeks old and so tiny and we were in the middle of nowhere, I mean properly like out in the country on a farm miles away from anywhere. She was inconsolable, so I gave her some gripe water...

... She choked, and couldn’t catch her breath.

I handed her to Kenny as I got so scared I couldn’t watch; she was practically grey and all I could think of was that she wasn’t going to make it, no ambulance would make it here they’d have to send a helicopter... All that was running through my brain, whilst I shouted at Kenny to help her. And then I finally heard her scream again; I’ve never been so relieved to hear her cry. It was up there with one of the most terrifying things I have ever been through with my babies. 

I was distraught the whole weekend. It shook us all up. You're probably thinking what’s this got to do with autism, but you’ll see - just bare with me. So, for the next few months we trundled along with a screamer until eventually I had had enough of pulling my car over in the most dangerous of places, rushing round to my baby and dragging her out choking on vomit and going floppy! We were referred to a pediatrician who diagnosed her with reflux and put her on some special milk. My baby girl was fixed. Or was she? 

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23 November 2016


Okay hands up, who here has heard of X linked Adreno-Leuko-Dystrophy? No? 

I thought not! 

Three years ago neither had I, nor any of my family either even though the faulty gene ABCD1 had been in my partners’ family most probably for generations.
Here are some abbreviations you will find throughout this post simply because its easier to read – Adrenoleukodystrophy – (ALD) and Adrenomyleneuropathy – (AMN)
My partner has a very rare genetic condition, which is called X - linked Adrenomyleneuropathy. It is a build up of very long chain fatty acids in the body, which attack the central nervous system, particularly affecting the organs below the waist. 


I started dating Kenny 11 years ago, and I had known him for much longer than that, there was a running joke in my family that he had dodgy ‘wegs’ (legs), which was actually started because Stanley our first born couldn't pronounce his L's, and so we continued it to Kenny and his ‘wegs’, he was a funny walker, he fell often, or tripped up steps and we just thought it was his uniqueness, of which Kenny had in abundance!

In the summer of 2012 I was heavily pregnant with our third child, and Kenny had a fall off of a child's scooter (would you believe) and broke his collarbone. I have always believed that this was a trigger to his rapid decline in health. He was in significant pain, every second of every day, and walking was hard. He was tripping and falling several times a day and his ability to walk was severely compromised.

At first he was provisionally diagnosed with multiple sclerosis. There are a few different levels of this and his diagnosis was Primary progressive MS, which was one level down to the most severe form, I will remember that day along with a few others for the rest of my life. We felt like our world had just came crashing down around us and we had no idea how it was going to be fixed! The thoughts running through our head were incomprehensible. Scared didn't cover it. And I think we cried together that night.

After he had every single test done for confirmation of this diagnosis, lumbar puncture, blood tests, MRI scans, neurological assessments, and they were all sent back as clear we were ecstatic. But we were also in limbo because at this point we knew there was something major going on. Something more serious? We didn't know, but we did know that each medical professional we came across were very worried indeed. And so that rubbed off on us.

After a particularly long wait, some bloods came back which were positive for a build up in VLCFA (very long chain fatty acids) - C22/C26.

He was given another provisional diagnosis of X linked ALD. These results were sent to us in a letter. And so Google helped me understand.
 And also a diagnosis of slowly progressive spastic paraperisis, which is a co-existing condition which describes the pain and feelings he gets when walking also the stiffness and numbing sensation.

I wish now that i never used Google as a tool for information because it took me to the very worst-case scenario and I could have crumbled that day. It said he could be in a completely dependent state within 3-4 years. 
He's going to die? 
No way this could NOT possibly be happening. Death was not on our agenda yet We had just started a family and his company was just taking off, I decided not to tell Kenny what I had read. I decided that we needed to have a diagnosis confirmed and hear the prognosis from a specialist Doctor. Find out the exact details of AMN and ALD

He was formally diagnosed in Oxford and his diagnosis was AMN, Not ALD, The prognosis for these two things is very different indeed. This diagnosis affected our whole family because it was passed down through the X chromosome.


So that meant that it would only have came from Kenny’s mother not father, it also meant that any sons he had (1) would not be affected at all because Kenny would pass his Y chromosome only. Each daughter that he produced (Of which he has three) will be an automatic obligate carrier. This was a huge thing to come to terms with. We couldn't eliminate the faulty gene from our family for decades. What's more is that we already had children before a diagnosis was made. If we had had a diagnosis first then we would have been entitled to IVF treatment to help us have a healthy child who didn't carry the faulty gene. You can imagine the frustration we felt. It was immense. 

I should tell you at this point about the statistics and how it will affect or manifest in any other family members. 
So far this is what we know – see diagram above for a visual explanation.

Men can't pass the faulty gene to their sons.

Any daughters of a male with the faulty gene will be obligate carriers.

If a woman has the faulty gene then each of her children regardless of sex will have a 50% chance of carrying the gene mutation. 

So that means that if any of Kenny’s daughters have children then those children will have a 50% chance of inheriting the X chromosome because women have two X Chromosomes.

Okay, now statistics of how it will affect males and females.

There is no effective treatment as yet for AMN. However, terminal cerebral ALD can be stopped by a bone marrow transplant. All males with the gene must be regularly monitored for symptoms by MRI scan. Once these appear he can have bone marrow transplant which will stop cerebral ALD. Unfortunately, if a male is not aware he has the gene and cerebral symptoms such as behavioural change or coordination problems appear it will be too late for this life saving treatment. Therefore, early identification such as new born screening (ALD Life is currently applying for this in England) is key to preventing this devastating condition.

Males that have Adrenomyleneuropathy AMN normally notice symptoms between the ages of 25-40. And symptoms can vary; others may be affected more or less. It's not known why.
There are drugs that can help with symptoms such as muscle spasm, incontinence etc. There is no treatment for the condition and bone marrow transplant does not affect AMN whereas it will stop ALD.
Sara Hunt the CEO of ALD - Life states that:
“The earliest we know of girls being affected (only by AMN symptoms) is 20s. There are two known cases globally of girls with cerebral ALD it is not clear if these are misdiagnoses or they were unlucky enough that both parents carried the ALD gene"

Some men can go on to develop the ALD version in adulthood which affects the brain and symptoms can be similar to the childhood cerebral version. This is why it's very important for Kenny to have regular MRI scans, to check for any white matter on the brain. (His is clear the moment) 

Girls who are obligate carriers - it is very rare for this condition to affect girls in childhood because they have two copies of the X chromosome. One from mum and one from dad, and so their unaffected X compensates for the affected one.

But it is equally important to say that girls can and have developed symptoms of this condition in childhood, and in fact Lola is being kept a watchful eye over because of this. She's had brain scans and blood tests and we are referred for the 100,000 genomes project
. Lola has been seen by A specialist in metabolic medicine, and he has done a neurological examination on her which has picked up a few issues, they may be related, but they may also be he symptoms of something that we are yet to discover, She has very brisk reflexes in her ankles, knees, and upper limbs, and increased tone in her legs, she also has extra beats of Clonus in her ankles, (Just like Kenny). It is a very worrying and uncertain time for us as a family and I wanted to tell our story, because its one that is very rare, and not spoken enough about as afar as I can find.

I have also created a face book support group for those people who are referred for the 100,000 genomes project support group – if you are taking part please follow this link and request to join More information about the 1000,000 Genomes Project can be found here.

Females usually develop minor symptoms between the ages of 40 to 60 similar to AMN males but some may develop symptoms earlier and become wheelchair bound.
 So far in the family we have Kenny’s mother who is the carrier, Kenny has three daughters who are all obligate carriers. Both of our girls have to have regular checkups at Great Ormond Street Hospital, and 6 monthly Blood tests to check the efficiency of the adrenal glands.
The adrenal glands can be affected with this disease, and if adrenal testing shows any warning markers then they will need hospital treatment as this part of the disease can be fatal. If they are poorly we need to keep a very watchful eye on them in case of adrenal dysfunction.
Sara Hunt also tells us that that majority of males will develop Addison’s Disease (adrenal insufficiency) This is can be treated with tablets, but for some the condition can remain unsteady and cause some ongoing health problems, but can be fatal if not diagnosed.

It’s been a very worrying time for all of the family members, because there isn’t much information or research on this disease and so it’s effectively a wait and see process. I want to try and spread as much awareness as I possibly can on this horrendous disease and help to raise money for more research and investigations so that hopefully one day there may be medicines to help eradicate this disease, or a potential cure. That is way off In the future I understand but we need your help. Please help me raise awareness of this terrible disease any one of us could end up in a position where we are struggling to come to terms with a diagnosis just like this and those people need to be reached, because just like me, they are most probably finding it very difficult to find any information at all. 

Spread the word that ALD – Lives Matter!!

Credit is given to Sara Hunt, the CEO of ALD LIFE – To read Sara’s Story timeline of Alex's story please follow this link It is one of the most heartbreaking stories I think I have ever read in my life. The way that the system has failed this gorgeous family is unbelievable. I am sat here speechless at the amount of basic things that they had to fight for just for access to a life that was normal for them. I am sorry Sara, and I want to apologize on behalf of all of those systems that failed you and your family. Stay strong Sara.

To help me raise money for ALD - Life please follow this link to my Just Giving page. All money will go to the charity where they will use it to fund more research into treatments options.

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