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Raisie Bay

Disability

The Long and ‘Tall’ of it, Marfan Syndrome

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We had a visit to the geneticist last week. It had been 18 months since Star had screamed the place down while they took her blood for testing. Thankfully long enough for Star not to be too anxious about her last visit.

We had a letter some six months after her last visit saying that her test results were clear. So today’s visit was just a follow up, a chance to chat with the Dr about the results and what would happen next.

It started well. Yes, the results were clear and the dr just wanted to ask some questions. Star was quite responsive, she told her she’d got a 7 in her English test when she was only expecting a 5. She hadn’t told me that, even though I always ask her about school.

Then she went in for her examination, height, weight, arm span, hypermobility tests. Nothing she hadn’t done before. Although she’d grown quite a lot in the last 18 months. The Dr took photographs of her hands, feet, spine and face for her records. I liked that she was being thorough, happy in the knowledge that she had nothing seriously wrong with her.

Then came the bombshell.

We went back to the other room to talk again. Star was becoming irritable by now and not so chatty. Well, unless asking ‘are we done yet’ every two minutes counts.

So, the tests showed that the febrillin gene was not mutated, but, there are 3000 different mutations of the gene and not all the tests were done. So, the Dr wanted my permission to test her genes again. Star became agitated until it was explained that no further blood needed to be taken.

As well as gene mutations, the Dr wanted to check for chromosomes. I’m no doctor so I don’t know the ins and outs, but basically she told me that she believed that Star had Marfan Syndrome and not Elhers Danlos Syndrome which is what she is diagnosed with.

Star has a lot of the skeletal signs of Marfan Syndrome and may have family history as both myself and her older sister have skeletal signs too. This could be enough for diagnosis even without the gene mutation.

The Future

Stars future can still be okay, people can live with Marfan Syndrome all their life and not even know it. But, it can have implications, especially with the eyes and the aorta. It is also something that may not start to cause problems until the teens, and Star is just thirteen.

The next steps will be more testing and extra care for Star. She will be having regular heart and eye examinations to detect any problems quickly. She will have her genes tested again to see if anything else shows up. There is also the possibility of the rest of the family being tested too to find any links.

My poor girl has already been through so much; she’s had pain since she was born, she had to endure the subluxation of her neck and several trips to theatre, twice she has had to wear a halo brace, she has many subluxations and dislocations due to her connective tissue disorder and just to top it off she has autism too.

She laughs a lot though, and loves going to school where she connects with other children like her. When she was told she was going to have another ECG she instantly reported that her school friend had to have them every year too. She doesn’t feel different, she doesn’t mind. And when she’s in pain she rarely complains. She really is a Star.

Touchpoints And How They Are Helping Us.

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A couple of weeks ago I went to Naidex which is the yearly disability exhibition. There is always so much to see and do for anyone with any interest in the innovations for the future of independent living.

I go because I like to look at new wheelchairs and accessible cars, but there is also a lot of new technology and information on holidays and disability sports. It can really be an eye opener.

Touchpoints Europe

One of the stands we spent a lot of time on was Touchpoints. I’m not always looking for things for myself, I also have autistic children and Star has physical disabilities too. The Touchpoints attracted me because they claimed to be of benefit to those with Autism.

I held two of the little devices while the lady on the stand talked to me about them. I took some information to look up when I got home, along with a purchase code as I was already thinking about buying some. While there I also filled in a competition form.

I received an e-mail shortly after the exhibition to say that I’d won the competition for a box of Touchpoints basic. This was the day after we’d been to the school to talk about the Little Man. He is now on the school’s Special Educational Needs and Disabilities register, and we know he is autistic although we don’t have it in writing yet.

The Little Man was fascinated with the Touchpoints and was keen to give them a try at school. We talked to the teacher who allowed him to wear the Touchpoints on his wrists.

After just a few days of wearing them he is already much happier at school and getting on with his work. I’ll explain more later.

What Are Touchpoints and What Do They Do?

two touchpoint devices on watch straps draped over the box they arrived in.

In the box you get 2 touch points, a duel charger wire(so you can charge them both at the same time) and carrying pouch, a set of wristbands and a sticker sheet. These are the Touchpoint Basics, there are other options to choose from.

To use the Touchpoints you press the button on one to turn it on and then choose between the three settings: blue for sleep, yellow for calm or purple for anger. Then if you turn on the other Touchpoint and face them together the second device should change to match the same colour as the first and begin vibrating in an alternating pattern. Then you keep the Touchpoints on either side of the body. You can use the straps, or put them in your pockets or socks. Anywhere you feel comfortable putting them.

Touchpoints work through Bi-Lateral Alternating Stimulation Tactile (BLAST) technology. This means, in simple terms, that alternating messages are sent to the brain to interrupt it’s current state and keep it more relaxed. I’m trying to keep it non science(y) here, but if you want to understand more it’s explained in detail on the website. Or you can see a scientific study here that shows that it really does have an effect on emotional and physical pain.

Our Review.

The noise made by the Touchpoints was one of the first things I noticed. It was noisy in the exhibition so this wasn’t something I’d noticed until I turned them on at home. However, when put in my pockets of my trousers the noise was considerably less noticeable. I guess if you put them in your socks, or down your bra, then you would notice it even less.

The Little Man wanted to wear them on the wristbands provided. I was worried that they would be too noisy for school, but he pulls down his sleeves over them and no-one notices.

The Little Man is the one who’s had the most use out of them but I did get to use them myself. I’d become upset over an incident which totally stressed me out almost to point of tears. I was in a right ‘flap’ not knowing what to do. The Touchpoints were nearby as they’d not long arrived and I’d been looking at them. So I tried them out. I put them on ‘angry’ as I really was that stressed out, then I popped them in my pockets. Within minutes I felt much calmer and I was able to make two phone calls which helped to sort out my problem. I can honestly say that the Touchpoints really helped to calm me down, and in just a few minutes. I’d have probably been stressing for a lot longer without them.

As I said before, the Little Man has been having problems at school. Nearly every day we were getting notes in his book about him not concentrating, disrupting the class and generally being silly. Then the teacher told us that he annoys the other kids so much that he had no friends and would often spend his break time alone, or annoying others. This really upset me as I know at home he is a sensitive well behaved little boy. He was like Jekyll and Hyde!

With the Autism diagnosis upon us I realised that maybe he was suffering from over stimulation at school which is why he was acting up. I hoped that the Touchpoints would help with that.

So now he wears the Touchpoints to school each day. He found out by reading the website how they work. He chooses what setting to have them on and uses them when he needs too. They have helped him a lot. We have had reports back that he is getting on with his work more and not annoying the other children as much. He has not disrupted the classroom and yesterday he came home from school and told me he had made some new friends!!

Touchpoints have not asked me to write this review although they did ask for some feedback on their Facebook page. I am honestly really thrilled with the Touchpoints. If I can get them off the Little Man for five minutes I might even have another try with them myself. Or, maybe I will buy myself a pair too.

Touchpoints have so many uses as well as stress and Autism. They can help you get to sleep, study, tourettes, negativity, Parkinsons, Social issues, fear of the dark, test anxiety, phobias, aggression and many more. You can find an encyclopedia of uses on Facebook.

Discount Code

When I gave Touchpoints my feedback they told me I could share a discount code with anyone who may be interested in trying Touchpoints for themselves. Here is a copy of the information they sent to me with relevant links and information.




There are two types of TouchPoints available:-

The Basics are manually controlled devices with 3 settings Sleep, Calm and Anger.

The Originals are app controlled devices which come with the 3 settings mentioned for the Basics but additionally with Focus, Performance and Craving.  So you should consider what you need the devices for and whether you want to use your phone to control them.

Find out more on the link below:
https://www.touchpointeurope.com/pages/get-started

Once you have decided which version is for you please visit https://www.touchpointeurope.com/pages/shop-touchpoints and use code AUTISM15 at the checkout.
This should give you 15% off.

Any other queries drop us an email to info@touchpointeurope.com or call us on 01531 820511, this line is manned between 9am and 3pm on weekdays.

The code Autism15 should be good for the whole of April, which is Autism Awareness Month. You can always call or e-mail for more details.

If you do try them I’d love to know how you get on.

Writing Prompts for April

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Each month Cheryl from A Chronic Voice sets out a list of writing prompts for those that suffer with a chronic illness. The prompts this month are;

  • Tiring
  • Educating
  • Receiving
  • Giving
  • Quieting

Tiring

I made a vow that I needed to get out of the house more, at least once a week. I made this vow after spending 14 days without leaving the house at all. However, I think I may have overdone things by going out several times a week and tiring myself out.

When you live with a chronic illness it’s hard to strike a balance. If I stay home all the time then I just feel tired constantly. If I go out I feel tired, but in a different way. I do get so sick and tired of looking at these four walls though. Maybe I can get a balance when it’s warm enough to sit in the garden, that’s going out without going out!

Educating

This is quite a relevant prompt for me this week, there has been a lot of educating going on.

I did a course in poetry, it’s something I’ve always loved writing but I’ve never really spent time learning the basics. I enjoyed the course, which was online, but in a group of people so it was good to get and give feedback.

I’ve also been educating myself about the drug Rituximab. I’m going to see my consultant next week and I’ve wondering whether to ask about it. So I did some research first. I’m still not sure it would help but a few others with my condition have had good results so I’ll see what my consultant says.

Another thing I’ve been learning about is Bi-lateral Alternating Stimulation Tactile (BLAST.) I won a pair of Touchpoints from a competition I entered at Naidex and was keen to find out how they work. I’ll definitely be writing more about them as they do have an affect on calming stress amongst other things.

Receiving

There has been much receiving going on too. As I’ve already said, I won some Touchpoints from Naidex. It’s the first time I’ve won a competition from an exhibition, despite entering them all the time.

I’ve also received a new cooker as my old one kept cutting out. My eldest son paid for it but I’ll be giving him some money back towards the cost. I haven’t really felt inspired to cook more though.

I also received some news this week. My youngest son is believed to be on the Autistic Spectrum. It wasn’t really a surprise, but it’s always like taking a huge leap from thinking it to knowing it. He’s still my gorgeous Little Man though.

Giving

I’ve been busy with my crochet and I gifted my Nephew’s daughter a baby blanket for her new baby due in a few weeks. I also sent along a rabbit that I’d made for her other daughter.

a soft toy bunny in grey with a purple scarf and pink nose
Hop the bunny

I’m also in the process of making a baby blanket for my other Nephew’s daughter, she is due in June and is having a little boy.

I can’t believe that both my brother’s are great grandparents already. I know they are older than me, but I’m not even a grandparent yet, never mind a great grandparent!

Quieting

I’ve been so busy it’s taking it’s toll as even though I’m just a week after my IVIG treatment, I’m feeling totally worn out. I need to take some time out and rest.

My favourite ways of spending quiet time is by crocheting and listening to an audio book. I also like to get engrossed in a good tv program.

I love it when I’m left alone in peace and quiet, I’m quite happy with my own company. It doesn’t happen too often though. I need to fit in all the peace and quiet I can in the next week as it will soon be time for the kids to break up from school.

Linking up with the lovely Cheryl from A Chronic Voice for this months writing prompts

a list of this months writing prompts
writing prompts

This is Our Autism

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When you’ve met one person with Autism, you’ve met one person with Autism

I can vouch for this, I have three autistic children and they are all very different. As it’s Autism Awareness week I would like to share my stories.

Number One Son

Many years ago I was told that my son was autistic. I had seen the film Rain Man, and that was about as far as my knowledge of autism went.

I went to the library and armed myself with reading material. I researched remedies and hoped there was some cure. Yes, I went down that path! I didn’t want a son with autism, I just wanted my son back.

Then I realised, he was still my son. He hadn’t changed just because he’d been given a diagnosis. Yes, our lives changed, especially where school was concerned, but we carried on and suddenly it didn’t seem so bad. We could do this!

Star

It may or may not come as a surprise but Star’s real name isn’t actually Star. When I started writing this blog she was five years old. I asked what I should call her on my blog and she said Star. So I did, and she has proved to me time and time again what a little star she is.

Star’s autism was picked up much earlier than my eldest son. She was first assessed at the age of three, but not given her diagnosis until she was six. Some girls are able to mask their differences, but Star has always embraced hers and I wouldn’t have it any other way.

Apart from her autism she has had other physical difficulties that we are still trying to get to the bottom of. She has been in for surgery five times, and had to wear a halo vest twice for a total of seven months.

But, although she lost an entire year of school, she is still on par with her peers and attends a mainstream school. She’s about to start choosing her options for her GCSEs and is not fazed at all.

The Little Man

We’ve known for a while that The Little Man has had problems. (Just to clarify, his name is not actually Little Man either.) Right from when he was very small he was different. He didn’t walk or talk until he was nearly two years old. As a baby he liked to lie flat all the time, he hated being sat up. There wasn’t anything wrong with him though, he was just doing it all his way.

He has always had difficulties at school, he gets into trouble for not listening, not concentrating or doing his work.

He has been bullied a lot because he doesn’t know how to interact properly with other children. I’m not saying it was his fault that he was bullied, but young children do tend to pick on kids that do things differently.

This week we have been working with his school on getting him assessed for Autism. He’s already on the school’s Special Education Needs and Disabilities (SEND) register.

The Truth About Autism

Quite simply, autism is different for everyone. My three children are different with similarities. My experiences with all three of them have been different. Other parents of autistic children will have very different experiences too.

Autism Awareness is necessary for people to understand these differences. But most of all, we should understand acceptance. Autistic children and adults just want to live their lives in this world like everyone else, but they may perceive the world differently. A little more understanding and acceptance is all they can ask.

Star is in a very accepting school. The teacher’s understand her needs and although some students might tease her, she has support in place so she doesn’t get upset or overwhelmed by school life. Because she is accepted she is doing really well, she knows what she wants to do after school and I can see she will have a future. It’s not like that for all autistic children, but it should be.

Show Your Rare – Make Them Listen

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Today is Rare Disease Day. I’ve written lots on my rare condition and also Star’s condition, but today I wanted to write about getting help when you are rare.

Star

Way back in 2013, Star woke up one day with a wonky neck. I took her to the GP who said to take her to A&E. We were told she had torticollis and that it would get better itself. It didn’t and we were back in A&E three more times before they scanned her and discovered a rotary subluxation of a disc in her neck. She was admitted.

A week later she was sent home again after having nothing but pain relief and muscle relaxants. She was given physio therapy but the therapist stopped treating her as she was sure she was getting worse not better.

I’ll cut a long story short, over the next eighteen months I had to fight to get the treatment my daughter needed to fix her neck. Each step was slow and, for her, painful. It seemed that none of her doctors where listening to me. She was finally diagnosed with a rare condition called Elhers Danlos Syndrome.

Her condition means that her ligaments are lax and she is prone to subluxations. Her bones can slip out of place and back again, causing a lasting pain. She has also dislocated her ankle a couple of times and dislocated her wrist. It was also, most likely, the cause of the subluxation in her neck. Which is why none of the treatments worked until she was permanently fixed with plates and screws.

She has many more issues and even now, with a diagnosis, we still have to keep on at doctors until they listen. Her condition is rare and it makes it more difficult for doctors to treat her with traditional methods.

Me

I had problems for a few years before I was really sick, but no doctor could work out what was wrong with me. My mental health was questioned on more than one occasion.

Then I became so sick I was paralysed and admitted to hospital. Again, no doctor really knew what was wrong with me. I was in a teaching hospital and each day students came in to question and examine me. They were clueless too. I did get a diagnosis of Transverse Myelitis, but I knew that my doctor was not absolutely sure of that.

A year later, I had learned to walk again (in a fashion..I know how to put one foot in front of the other, but balance and gait are something I’ve never mastered.) After more tests I was given the diagnosis of Stiff Person Syndrome. Again, a diagnosis does not mean that treatment is available, or that doctors understand my condition.

Each time I go to hospital it’s always the same, they don’t know how to treat me. So long as my blood pressure, temperature and heart rate are okay, they send me home and tell me it’s just part of my condition. I tend to not bother going to hospital now if I feel really ill, what’s the point?

Make Them Listen

Days like Rare Disease Day, and Charities like RareDisease.org help raise awareness. Without this then future generations will also go on not knowing anything about these rare diseases.

Why?

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Rare Disease Day


Disease or Condition?

  • A disease is a pathophysiological response to internal or external factors.
  • A disorder is a disruption to regular bodily structure and function.
  • A syndrome is a collection of signs and symptoms associated with a specific health-related cause.
  • A condition is an abnormal state of health that interferes with normal or regular feelings of wellbeing.

As you can see from the chart above, even though you can give a different description to disease, disorder, syndrome and condition you can also see that they are all similar. Each one causes the patients body to react in a way that a normal healthy person doesn’t.

Both my daughter and I have syndromes, but we also have an abnormal state of health (condition,) a disruption to regular bodily structure and function (disorder) and our symptoms where caused by a response to internal or external factors (disease.)

Never Give Up

If I leave you with one thing it has to be never give up. There are so many rare diseases out there and the doctors really don’t know about all of them. There is a saying amongst the medical profession,

If you hear hoofbeats look for horses not zebras

This means that doctors are looking for the obvious not the rare.

This is why many people with a rare disease/condition/syndrome/disorder call themselves medical zebras.

Awareness is needed so that the Doctors will recognise those zebras!

zebra

10 Facts about Stiff Person Syndrome

Rare Disease Day 2018

The Day My Diagnosis Changed (Stiff Person Syndrome)

When it’s Not All Black and White (Elhers Danlos Syndrome)

My Angel (Star’s first Halo)

An Update on Star (Star’s Surgery)