After the horrendous hospital visit we had with Connie after using the crèche at the parenting course I had no qualms in phoning the people from the parenting course and telling them I wouldn't be back, and also the people who organised it too.

 

I was so annoyed at the whole situation of being forced on a course, where my youngest picked up an infection that completely knocked her for six was so awful, being forced to go on a course that would make no difference to my child whatsoever, a course designed for parents who are struggling with behavior or having a hard time parenting, a course that would NOT benefit a parent with a child with autism. I had to make her my priority.

It was a very busy end to 2013, we had an appointment with another pediatrician for Lola through; the referral that the pediatrician who diagnosed Lola's hyper mobility had also referred us for some insoles for Lola's shoes to help her walk. She was very clumsy and was always knocking and bumping into things and falling over.

We were really apprehensive about this appointment we needed for Lola to be herself that day and show them what we saw. That didn't happen did it? You know when you have a young baby and you are really worried that their temperature is sky high and they have a rash and won't stop crying? You get to the doctors and what happens? Their temp has reduced from the cool journey, and so when they arrive they are all smiles and coos and dribbles, and you're sent away as an over reacting mummy!

This was one of those days, she was hard work, but she was compliant, did everything she was asked, had good eye contact, and more importantly she passed the "Sally Anne test"

For those of you who don't know this, it's a little test for youngsters who are being assessed for ASD, and it looks at how the mind works and whether they have a thing called "theory of mind" where they are able to put themselves in the shoes of other people and think like them. A better explanation taken from the net is: The Sally Anne Test

When I received her report I googled the Sally Anne test and realised that actually Lola hadn't passed this test! She failed it. But for some reason I don't know whether the pediatrician was having a bad day or just got mixed up but Lola chose the answer that a child with autism 'would normally' choose. God knows why this mistake happened but I was really frustrated about it. I felt like this was a last chance saloon, and we were being chucked out the door again, but she kept Lola on review and she had referred us to an Occupational health therapist because Lola was really clumsy and kept bumping into things, and had poor fine motor skills.

School runs were awful….

Each time we had to go and collect Stanley from school Lola was really difficult to manage, it was really bad for us too, to be able to cope with it mentally, she was all over the place, I had three of them and it was hard. I'm not going to lie, I cried silently on the way home lots of times. I was in bits as school saw no problems with Lola. She was a model pupil! Always polite, had friends apparently, was working well and turn taking. Being a good girl.

"She's young.. "

“All children are like that"

"There are worse children than her" 

These were the replies I got when asking things, all my concerns were brushed under the carpet. Now I'm not going to go into too much detail about the school, just like I'm not going into too much detail about some other things Lola done, purely out of respect. But let's just say it wasn't a good relationship. Which made things 100 times harder. I felt alone, I felt unsupported, and I felt really, really let down.

I was having to pick Lola up and carry her out of school kicking and screaming nearly every single day, whilst pushing a buggy, and watching Stanley too, who would, as it happens just run off, hide, and be a bit of a pickle. People would stare at me, children would ask questions. I felt the teacher’s eyes boring into the back of me every time I walked out. I would dread that time.

I never found a good pick up routine, because I had Stan at one end of the school and Lola at the other it was hard to get the balance right, and by the time id got to Lola she would be at breaking point, hitting Connie and Stanley in the car, in the end Stan would sit in the front so she couldn't get to him, she would scream and scream until we got home and she could get into her Pajamas.

Then she'd be comfortable and calm down a little! (I never realised this though until later on)

Lola would be so exhausted from her day of pretending to be "model child" that she would fall asleep. 

Completely wiped out.

We were struggling as a whole family to do anything, everything angered her, I mean anything at all. All day long we placed demands on her without realising what we were doing and because she wasn't in control she got worse. I use this sentence a lot in these chapters, but it really did get worse and worse and worse. Things were heightened at the beginning of a school term and the end of a school holiday. We soon noticed a real pattern of behaviours.

At the same time both children were issued IEP's (independent education plans) it's was a document – At that time - that a child who has special education needs has, to breakdown their leaning into smaller constituent parts to scaffold their learning. Stanley was really very behind and I was quite concerned and questioned dyslexia, and ASD, and was brushed off once again. ‘Nope he's just a bit slower and will catch up’ Or so they thought, but I have to give Stanley's year two teacher praise because she picked up on his needs straight away and put in place more help for him, which I'm really grateful for. She was lovely, and listened well and had really good communication.

Back to the investigations for Kenny.

Kenny was asked to go for a lumbar puncture to confirm Multiple Sclerosis. His consultant neurologist was sure that this was his diagnosis and was expecting the results back as confirmation so we could get a care plan put together. It all sounded really final and we weren't talking about it at all. We pretty much ignored it. We had one drunken conversation where we both got a bit upset but that was it. We just supported each other the best we could.

Again our lives were like we were being remote controlled and looking back on it we were like robots. Just about hanging on to each day and scrambling through, dealing with things as they arose. We were having lots of appointments at this time. His lumbar puncture wasn't until the next year in March, and we had to get through Lola's OT appointment and Christmas first.

Lola appointment with the occupational health therapist was a real eye opener, it was the beginning of the beginning and finally I felt we were beginning to piece together my little princess!

I was asked to fill out this questionnaire like paper, whilst she done some things with Lola, some little games, and drawing, and sorting little pegs and stuff. I filled it out for her and sat in silence because I was asked to take a back seat and let her get on with it. Lola took to her really quickly, she was a lovely lady, always smiling, and cheery and happy and she understood, something in which as a whole family we were really lacking from all sides of the professionally. She looked at my questionnaires and done the scoring on it and was shocked because in the referral that was sent to her about Lola it stated she had no sensory issues. Surprise, surprise. Well my questionnaire seriously contradicted their referral and we were told Lola suffered pretty majorly with sensory processing difficulties. I had no idea what this was really, I hadn't researched it and I didn't know any techniques. It was a complete shock to me, she also noted that we were awaiting an autism diagnosis and I thought this was a pretty good statement because I hadn't told her this, she must have been told it in the referral someone somewhere had Lola on their radar and we were within sights of a diagnosis.

I was invited to attend a conference about Sensory Processing Disorder along with Lola's teacher if they wanted to attend, and the report and an invite would be sent out to them. She noted that whilst I was doing the form and she was playing with Lola, that Lola asked what a noise was, (it was an ambulance in the very distant background) and the Occupational Therapist could barely hear it. Lola is very sensitive to sounds. This was a classic example and glad it happened on the day. She also noted Lola's language delays and Lola asked the Occupational Therapist "are you an ambulance " which meant "are you a doctor" bless her heart! It was so sweet. She gave us so many strategies and leaflets and stuff and I went home and I researched the life out of sensory processing disorder. I joined support groups to gain as much knowledge as I could to help her. I brought chew toys for Lola, a den so she could have a calm space at home, I filled her bedroom with bubble lamps, and lava lamps and little fairy lights, and spinning toys, and anything else you could imagine. The first two nights after she had her den in her room she slept in it fully all night long, I swear I could have kissed her therapist. 

I was ecstatic, but it didn’t last!

Like most things with Lola we have to have a good turn around with things otherwise her body gets used to it, and then and they don't have the same effect. I brought her a weighted blanket and again she slept through for about a week and then she didn't like it anymore and refused to use it. I done deep pressure massaging after a calm hot bath and we settled into a great routine.

Lola would make me play this game where I would rub, tickle, scratch, her legs according to the colour of the lights in her bubble lamp, every night I would rub and then tickle and then scratch, when she said so. It was so tiring but it was working, and her funny little ways made me so happy because when she wasn't pretending to be someone she wasn't and she was being completely Lola she was just so scrumptious. The deep pressure massage really calmed Lola down, I couldn't believe that a 4 year old was enjoying a massage the way she did and I have a voice recoding of Lola during one of these massages and it's so funny. I think this was the bed-time routine that she liked the most. Apart from her wibbly pig one.

Her Wibbly pig one - she had a set of books and would only let me read one of these books, called ‘Wibbly pig can dance’, and after a wobbly two weeks of her trying to be in control and be the mummy, and snatch the book away and turn the pages, or read it, and make me sit on the floor, she settled down and we got a good routine going. She would fall asleep as soon I read the book. I read this book to her more than a hundred times and I had to read it in a specific way, very very specific and if I didn't I would have to start again.

Can you imagine this at 7pm every night after little to no sleep the night before due to her constant screaming, a full on day with her and a screaming reflux, dairy intolerant baby and talk-a-holic Stan. I was being ground down, but we worked through it. Then into the next routine.

The recommendations from the Occupational Therapist were put in place, and it was such an eye opener, everything completely made sense, she was 'sensory processing disorder', the books were written about her. Why hadn't I known about this and why hadn't someone else picked up on it? Such a waste of two years in the NHS system and no one picked up on it, I felt she had been failed. She was just an extreme version of normal. It was so flipping annoying. Lola's teacher and I went to the conference and she was even shocked, In the middle of it she leant over to me and whispered "that is so your daughter"

Was it finally becoming noticeable? Were we going to get some help now? People were seeing and believing, surely things would all come together and the school would support me in a diagnosis and put more recommendations in place? What are the odds are on this? 

Anyone care to hazard a guess?

It’s very daunting when a member of your family is diagnosed with a rare disease, Something that there isn’t much awareness of, or research about can be really frustrating for you.

That’s how we felt when my partner of 10 years was diagnosed with X – Linked Adrenomyleneuropathy (AMN) Yep, it’s a mouthful right? We weren’t even told during n appointment, we were sent a letter from the neurologist, and discharged from his services because he wasn’t a specialist in it.

I then done something that no one should ever do when in a situation like mine. I hit GOOGLE. And I really shouldn’t have. It took me to the very worst-case scenario and made me so anxious that I didn’t even tell my partner what this diagnosis meant.

We then had to wait for another team of specialists to pick up his case and explain this to us. My anxiety skyrocketed.

AMN is a neurological disease that affects the organs below the waist, The nerve endings protecting the spinal cord were disintegrating making it difficult for the brain to send messages down the spinal cord. In effect, it was stopping his legs from working properly and causing him severe pain. His mobility and balance and quality of life have been severely affected.

This genetic condition is so rare, that even the geneticists and neurological team are working on experience rather than facts, because there is little evidence of what works, or treatments plans available. Each person that is affected by this is completely different. It isn’t textbook stuff and so the medications used to treat his pain, or balance is trailed and discarded at an alarming rate. Thus far he has been through about 6-7 medications with little or no benefit. Because the pain is neurological there really isn’t a huge amount of options, and we are nearing the end of possibilities to help him have a better quality of life.

As if this isn’t enough, our children are also diagnosed with autism and ADHD, Our two girls are obligate carriers for X – Linked Adrenoleukodystrophy (ALD) So they are closely monitored for any changes in their health even though it is considered very rare for girls in childhood to show symptoms of this debilitating disease.

As the whole family seems to be hit by some kind of genetic abnormalities we have been referred for the 100,000 genomes project, a study funded by the NHS that recruits 70,000 patients of rare diseases and cancers to have their whole genomes decoded and analysed to find specific gene mutations. This study is the first and largest of its kind in the whole world, and could ave the way for future diagnoses and treatments of people with rare diseases and cancers and those who are simply named SWAN (Syndrome Without A Name)

I feel privileged to be a part of the part of the future in this study and hopefully one day there will be more research and text book information on the rare disease that my partner sufferers with so that it can help enable people like him to have a better quality of life.

If you are taking part in the 100,000 genomes project then please join the FB Support group

100,000 Genome Project Support Group

Life comes with its very own agenda, one that isn’t preconceived. 

It doesn’t have a set path that it dishes out to everyone, based on their own circumstances, it doesn’t choose who will be fortunate in health and well-being, it doesn’t choose whether you are able to have a family, work, or be happy.

Your life is defined mainly by the choices you make, and that includes some health issues. Mostly though, and this is the case for my family our bad health is in our genes. 

But as we all know life has a way of throwing multiple things at you with such force and ferocity that you have no choice but to juggle these all at the same time whilst still trying to live this life and jump over its forever climbing hurdles.

That is how anxiety took a hold of me.

And that’s how I felt when I realized that I was suffering with anxiety.

Me and my partner have three beautiful children, and two of those are diagnosed with Autism and ADHD, my girl along with those diagnoses suffers with anxiety, hyper mobility, sleep apneas, Sensory Processing Disorder, and a smattering of other co–existing conditions.

Life for us was very challenging, very up and down and a few years ago due to everything unfolding – and not really knowing how to handle or deal with these conditions – very unhappy.

In 2014, my partner was diagnosed with a neurological condition called X – Linked Adrenoleukodystrophy.He may loose the use of his legs, and he may also need lifelong care.

Life just kept throwing these curve balls, and I just kept catching them and throwing them up in the air along with the rest ready to catch them again on their return.

They were just spinning and spinning, and nothing seemed to stop, there was never a break.

I found my life spiraling out of my control.

We had a calendar full of appointments, many that we had to travel quite far too. Many that needed day beds, and anesthetics, lumbar punctures, and operations.

I had hospital reports coming out of my ears, and mostly I found out more in a hospital report than I did in the appointment, which then raised more questions, and requests for more appointments. I was waiting patiently for the postman every day.

I needed those letters.

I needed to read those reports so desperately.

And then my Dad suddenly passed away. My beautiful, wonderful, funny, dad, whom gave his everything when we were children to create happy, perfect, memories that I treasure dearly.

I was grieving and I realized I wasn’t just waiting patiently for that postman anymore, I was detouring on my journeys, after lunch time, knowing the postman’s routine, to collect my letters. I would check the doormat first thing as soon as I walked in the door. I would rip those letters open and be so disappointed if it wasn’t something that I was hoping for. 

‘Its okay though I’m sure it will be here tomorrow’ 

I told myself, and so I would wait again, constantly thinking about these letters, spotting the postman and watching at the window, waiting for him to walk down my path I could actually feel the excitement of what he would bring me.The feeling of despair I felt when he walked on by with a nod of his head was like torture, a deep, painful roar felt throughout my body. I felt like my only purpose in life was to receive these goddamn letters.

I don’t even know when I realized it had become a problem; there were other things, too.

I had no patience anymore, everything was an annoyance to me, and little things like asking me simple questions would be met with intolerance, snappy remarks and sometimes just plain ignorance.

I was also convinced that I had some terrible disease and I was going to die.

I had to sort my family out, I had to tell other family members more about our likes and dislikes, and how our routines went. And if I did die I needed to make sure that my family knew I needed my daughter in a special school.

It was by far the best place for her. I told my partners family that if I did die, someone to have to help him out with the kids because he wouldn’t be able to do this himself he was physically incapable.

I imagined all sorts of things and in my head I prepared for the worst. It was all consuming, I had nightmares, I was so panicked. I was a nightmare to be around. I couldn’t concentrate on anything but these letters.

My hearing sense was heightened too, certain sounds made my skin crawl and I would sometimes scream because it was so physically painful. I knew that for the sake of my family, I needed to get help; I had to talk it through with my GP at least and ask her opinion.

Yes I had anxiety and I was given a tiny dose of anxiety tablets. I have also been referred to Talking Therapies, which is on my To-Do list and really needs to be prioritized.

The tablets help, and I’m glad that I finally went and told them my issues because if I am not 100% then my family simply cannot function.

I don’t believe I’m dying anymore, and I do not detour through my day just for the postman.

It hasn’t completely relieved me of the anxiety, I’m still thinking about the postman all the time, but it has gotten easier. And I’m thankful for that.

P.S I hope my postman doesn't read this....

This post was originally written for and published by Firefly - The Moment Anxiety Took A Hold Of Me

Hello! and welcome to my regular series, Marvellous Mondays. Here I will be publishing positive stories from other people, including my fellow Bloggers. These posts will be positive posts to remind us all on those hard and tiring days that it CAN be better. To give a little insight into other families and what they've achieved, any milestones they have reached with their children or anything that has made them happy that day.    Marvellous Mondays was born when i had a really, really bad weekend with my daughter. It was a Monday morning and I started to write a new blog post about how i was feeling and what had happened. I found that I was making myself feel even worse and so i stopped and turned it into a positive post. It made me feel so much better writing about the The Many Things I Love About My Child   Anyone can join in with Marvellous Mondays, If you have a post that you wish to send me then please Email me at lotsofloveandaffection@outlook.com with a subject title of Marvellous Monday's and include a small description of who you are and a blog link if you have one.    I'm really looking forward to sharing everyone's stories with you, and I hope you like them too.