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Tuesday, 28 February 2017

Living With A Rare Condition | Rare Disease Day

I feel like all I've done this month is go on about Marfan Syndrome and my experience with it but I really wanted to do a post that was more general today, more of an insight into what life is like living with a rare disease, because today is Rare Disease Day. February for me has been all about specifically raising awareness of my condition but today is all about informing and educating people about rare conditions in general. Each year there are also specific themes to go alongside the day and this year's is research, quite an appropriate topic for me right now as research has impacted my life in several different ways recently which I'll talk about a little later on.


So, what is Rare Disease Day? It takes place every year on the last day of February and the main objective of the day is to raise awareness of rare diseases and their impact on patients' lives. The campaign mostly targets the general public but it also strives to raise awareness amongst public authorities, researchers, health professionals and just anyone with an interest in rare conditions. As I said every year there is a theme and the slogan to go along this year's theme of research is 'With research, possibilities are limitless'. Research is so vital and this can be seen especially well when it comes to rare diseases that often don't gain the same publicity as well known conditions. Whilst funds for rare disease research has increased in the past years we still have a long way to go and us patients rely on there being researchers out there that are passionate and willing to help us. Many of us also rely on medications and treatments to live our daily lives and none of that would be possible without research so it really is so important.

Personally I've had quite a big connection with research in the past 6 months starting with when I started working with The British Heart Foundation last year. They amazingly funded some research into my condition Marfan Syndrome and I found out about it through them wanting a personal story to go out with it in their press releases. I remember finding out about the research and being on the edge of crying because I was so happy, finally we had some progress thanks to a group of people who had a genuine interest in helping people with the condition. The research is to do with the life threatening heart problems that can affect people in Marfan and the results might lead us closer to developing medication to try and slow down or even stop these problems. Working with The BHF on it really helped me to appreciate research more and understand the importance of charities like them who fund studies that would probably have trouble finding funding elsewhere.


More recently I've been involved with research as I'm a member of the new BHF patient advisory group. It's a role where myself and the other members will be going through the clinical studies funding applications that the BHF get looking for how good the plain english is and how much patient involvement there has been in the study, making sure that it also benefits those with cardiovascular disease. Together we answer questions that medical professionals often don't even think about because of our patient experience. I'm so glad that I'm able to connect with research in a more direct way and that my knowledge will influence the decisions that the professionals committee make about whether the studies should be funded or not. It really has opened my eyes further to how important research is and how passionate people are about it. Having a rare condition usually comes with a lot of unanswered questions so research and the people behind it really are so vital in providing answers to such questions, I've always found that the more I know about my condition the better and less worried I feel.

Having a rare condition isn't easy though and there are good days and bad days, I think most of us with such conditions have probably asked the 'why me?' question somewhere along the way. For me I have my bad pain days but I also have my bad mental health days where I get super frustrated about my health and often feel quite hopeless about the future. Having so many health problems that can't be fixed or cured can be really tough as well as emotionally draining. Often so many of us rare disease patients have to take things into our own hands, spending our free time researching into our conditions, treatments, surgeries etc.


Surprisingly though there are positives and having a rare condition has enabled me to connect with so many different people, whether they have the same condition as me or a different one. I think you almost become part of a family, a group of people who understand and are always there to turn to when you're having a difficult day. We might not share the same conditions or symptoms but we share some of the same emotions and feelings that come along with an experience like this. Having a rare disease is an ever changing journey but you know that you aren't alone in it, a very comforting thought.

You can learn more about my condition, Marfan Syndrome, on my information page and also head over to the Rare Disease Day website to learn more about how you can get involved today.
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Monday, 27 February 2017

February Beauty Buys

You've probably noticed that over the past few months my blog has featured less and less beauty posts, despite that being the kind of blog that I started with over 5 years ago now. I've really been enjoying talking about disability and Marfan Syndrome more but I've definitely been neglecting that side of my blog and I want to introduce more regular beauty features. So, I decided that this was probably a good excuse to try out some new beauty products! I made a little  Boots order a couple of weeks back so I thought I'd share with you what I bought, with the aim being that I'll hopefully find time to review these products on here soon!



Veet Sensitive Precision Beauty Styler | £23.99

When I bought this it was on offer for £15 so I thought I'd give it a go, mainly as I do my own eyebrows (never had them done professionally) so it seemed like a good little gadget to help me do that! You can use it on your face, underarms and bikini line so all the sensitive parts of your body really, I've not given it a proper go yet but I really like the look of it. It comes with a few attachments that are for different parts of the body and I think it's really going to help me get a cleaner line to my eyebrows, plucking them doesn't really achieve that.



Garnier Moisture Bomb Tissue Mask | £1.49

Next up is a tissue mask that caught my eye in Superdrug, it was on offer for a £1 when I bought and I think Boots have it on offer right now too. I've really been into face masks recently but I've not used a tissue mask in a couple of years, since they first became 'trendy'. I've heard some really good things about it recently but again I've not got around to trying it yet but I might plan a little pamper night for sometime this week, I could do with a relaxing night!

L'Oreal Paris Pure Clay Detox Mask | £7.99

Time for another face mask! This is one that I've really wanted to try since it came out but every time I've gone to buy it I've found that it's been sold out! The Detox mask certainly does seem to be the most popular out of the 3, the only one I haven't got now is the Purity mask. When I bought this I also saw that L'Oreal have now brought out face wash versions of the masks that I can't wait to try out, it just so happens that I need a new face wash! Have you tried the face washes yet?

Boots Essentials Fragrance Free Facial Exfoliating Sponge | £1.50

This is something that I stumbled upon when browsing some of Boots own products and I thought I'd give it a go! I managed to pick up 3 for £3 thanks to an offer and I've been really enjoying using them, they are surprisingly quite gentle. I have quite dry and flaky skin so I find myself having to exfoliate quite often so something that isn't harsh like this is exactly what I need so I'm very happy with my little find!



NYX Liquid Suede Cream Lipstick in Tea & Cookies | £6.50

Finally it is on to the lip products! I really wanted to try a few new things as I'm getting quite bored with my current lip colour and products choices, a browse through the new section on the Boots website soon gave me some choices though. I'm already a big fan of NYX lip products because they are affordable yet such good quality so I didn't hesitate in buying one of these liquid lipsticks in a cute muted pink shade. It's a little darker than I'm used to but I'm trying to challenge myself and go out of my comfort zone, at the end of the day people already stare at me in the streets anyway because of my powerchair!

Maybelline Baby Lips Colour Balm Crayon in Creamy Caramel | £5.99

I remember when the Baby Lips lip balms came out for the first time and the excitement around them and now the range seems to have exploded a little and we have crayons now amongst other different products. I loved the lip balms back then and still love them now so I thought I'd give the new crayons a go to see how they compared. The colour names are a little confusing though because on the website there isn't a 'creamy caramel' option but that's what it says on the product! Confusion aside though my first impressions are good, I found that it's really moisturising like the lip balms but there is slightly more pigmentation so the 2 products aren't identical! I think it's going to take me a while to decide exactly what I think of this addition to the range though.

Maybelline Colour Drama Intense Lip Paint in Never Bare | £4.99

Finally I have another new lip product that caught my eye to show you, and it's Maybelline again too. It was mainly the price that attracted me to this product as I thought at £4.99 it was a bit of a bargain product. I've not tried this yet, or even swatched it, as it has a sponge applicator and I haven't taken photos yet but I think if I do like this then it's something I'm going to be raving about a lot!

Did you buy any new beauty products in February? Do any of these take your fancy?
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Sunday, 26 February 2017

Sunday Stories | Estelle's Sacral Agenesis Story

Sunday stories is a series on my blog where every week a different person talks about their condition (physical, mental etc.), shares their story and raise awareness. For the past 5 years I've used my blog as a space where I could do just that but I wanted to extend things even further to allow others to talk and raise awareness of their conditions. I'm really excited to introduce everyone to you! Today the lovely Estelle is sharing her story and journey with Sacral Agenesis, so I'll pass things on to her!


Can you tell us a bit about your condition and how you were diagnosed?

Sacral agenesis (or Caudal Regression Syndrome) is a congenital disorder in which there is abnormal foetal development of the lower spine. The condition exists in a variety of forms, ranging from partial absence of the tail bone regions of the spine to absence of the lower vertebrae, pelvis and parts of the thoracic and/or lumbar areas of the spine. In some cases where only a small part of the spine is absent, there may be no outward sign of the condition. In cases where more substantial areas of the spine are absent, there may be fused, webbed, or smaller lower extremities and paralysis.
Sacral agenesis syndrome is usually associated with maternal diabetes, but not gestational diabetes, however not all children born with Sacral Agenesis have diabetic mothers. It occurs at a rate of approximately one per 25,000 live births. I was diagnosed at birth by a team of doctors who had to consult rather a lot of textbooks. I don't have a sacrum or a coccyx. Sacral agenesis affects people differently, I am quite lucky and mostly have orthopaedic and urology issues. 

How does your condition affect you on a daily basis?
On a daily basis I suffer from mobility issues - I wear adapted footwear and insoles and occasionally have to use a crutch. I have some urology issues that I deal with on a daily basis too. I have good days and bad really. I have had to have a lot of surgery, most recently a hip replacement and I will have to have my right ankle fused (I had the left done a few years ago) to ease pain. On good days, it doesn't affect me that much. I don't walk fast, I walk with a limp due to a leg length discrepancy and I tire easily. On bad days I don't walk well at all. I need to sit down a lot and take a lot of strong pain medication. I suffer from anxiety and depression too. I work full time (although I have been off the last 3 months recovering) so I try to ignore my condition to make the best of my day.
Do you have any tips for someone who is newly diagnosed?
I think this is tricky - generally a person would be diagnosed at birth although I read recently that someone was diagnosed as an adult. I belong to a few groups for people with Sacral agenesis, one of which has a lot of parents of children who have been diagnosed before or after birth. There is also an adult group for people to share stories and seek advice. I think it has been a real help to the parents in the first group to see that so many of us lead a pretty full and active life. I think that I would advise people to not be defined by their disability or condition, don't be afraid to seek help if you need it, don't suffer alone and close in on yourself like I do. There is a lot of information out there for Sacral agenesis sufferers. iSACRA have helped me to find the Facebook group and they offer so much information. 
What is one thing you would like people to remember about your condition?
As a relatively unknown condition - it's a bit rare, I'd like people to know that they can ask questions - it is better than assuming things about me. I'd tell people to remember that despite this disability you are capable of anything. 
You can follow Estelle on Twitter and she also has her own blog, Estellosaurus. As she said above as well there is more information and support on the iSACRA website.
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