Raisie Bay - A Family and Lifestyle Blog

The Long and ‘Tall’ of it, Marfan Syndrome

April 21, 2019 by Anne Sweet 5 Comments

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.

My Sunday Photo 21st April 2019

April 21, 2019 by Anne Sweet 4 Comments

Easter Sunday

Happy Easter! Do you think we have enough eggs? So much chocolate, I feel sick just looking at it all (only joking!)

Easter is not all about chocolate though, it’s about family time, a nice Sunday lunch and if you have faith then a little praise for the Lord.

For us, it’s chocolate. We bought a roast for our Sunday lunch but we ate it on Friday because we didn’t check the Best Before Date when buying and certain members of my family will not eat meat that has been frozen.

Easter Morning

The kids woke up excited because of their eggs, the two youngest had to find their’s, Star didn’t want her’s hidden. She was there to help reach the ones put in high places though. Seriously, I asked the eldest two to hide them and they put one on top of the curtain rail and one on top of the clock. two places the young ones can’t reach. And I can’t reach them either now I can’t stretch. Thankfully, Star came to the rescue, she’s taller than me anyway.

Five minutes excitement of egg finding then it was breakfast and lap tops.

Before we moved house I used to take them to church quite regularly. It was a church I’d been going to for years and the kids were happy to come with me. There were always loads of toys for them to play with and then they’d be taken to another room to play or craft. They loved it.

Since we moved I’ve not found a church that ‘felt’ like my old family. And now I can’t even take the kids by myself. Graham isn’t interested and would probably curse me for getting him out of bed before lunch time anyway.

Simple Things

It’s a glorious sunny day and Graham has been working on the garden so it’s nicer than it’s been for years. This makes me happy.

I hung out some washing on the line (I have this fabulous trolley basket which I can use to walk with and carry the washing to the line.) I spoke to the neighbours. One has family coming for lunch and her turkey in the oven, no doubt they’ll be in the garden later enjoying a few glasses of wine. The other is getting ready to go out to family, so it will be quiet on that side.

I have finished my crocheted sweater..yay, just in time for summer! It’s a bit big so maybe I will need to scoff a few more of those Easter eggs. (any excuse).

We will have a light lunch, I may sit in the garden, we could watch a movie later…whatever happens, I take pleasure in the simple things.

Whatever you are doing this sunny Easter Day, do spare a thought for those persecuted because of their faith, in particular those in Sri Lanka. And may Peace be with you all.

Word of the Week #16 2019

April 19, 2019 by Anne Sweet 10 Comments

Hello and welcome to the home of Word of the Week, a nice and simple weekly linky, with everyone welcome to pop by and share. You reflect back on the past week and sum it up in one word. Then share your word with us in a blog post, with as little or as much explanation as you like.

There are not too many rules with this linky, just remember to read at least another couple of posts in the link up after adding your link. Do try to stick to the theme of summing your week up. I will read and comment on all posts and tweet them out for you. I also have a Pinterest board devoted to Word of the Week and I will add posts to Mix (formerly Stumble.) Please add the badge below to your post so that others may find us and join in. If you comment or tweet then please use the hashtag #WotW

If you are unfamiliar with the Word of the Week linky then please feel free to ask any questions. New linkers are always welcome, we love to hear what you have been up to in the past week.

My Word of the Week

I wasn’t well the weekend which sort of put me out of sorts for a while. It’s hard keeping track of time when the kids are not at school, and when you lose a weekend because of illness it makes it even worse. Which is why I was convinced that Monday was actually Saturday!

I managed to get out of the house on Monday by driving to see my brother. I actually drove the car for the first time in six months. On Tuesday we had to go to the hospital with Star for her results from the geneticist. I’m still trying to process that news.

Wednesday we went shopping for Easter eggs and a few other bits from Morrisons. It was like a game of hunt the Easter Bunny as Boo and Eldest daughter kept running off around the huge store buying stuff.

But Thursday was the highlight of the week as Boo and the Little Man finally had their hair cut. Boo had been counting the days and was so excited. The Little Man not so excited but willing to go along so that was good as his hair was so long we were getting to the stage of tying it up in a pony tail. Star refused to have her hair cut but that was no surprise. I decided to go for the chop myself as my hair was getting way too long.

So, the photo above is the before shot, and now I guess you want to see the results?

Boo actually had about four inches chopped off which means her hair will be much easier to wash and brush. Two things she hates doing, so if it will help then it’s all good.

The Little Man had loads chopped off. He doesn’t look too happy but that’s because he didn’t want his photo taken, he was happy with his hair. He refused to have the sides shaved, he hates the vibration on his head. But at least it’s short and manageable again. His fringe looks a little crazy here but it’s nice when it’s combed. I couldn’t help remembering his first haircut and how blonde he used to be.

I’m not ready to show off my hair yet, it might be shorter but I’ve not had it coloured yet and well, my roots need a lot of attention!

Now it’s over to you, what word or phrase sums up your week?

Raisie Bay

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I like Driving in My Car

April 16, 2019 by Anne Sweet 9 Comments

Driving

Yesterday I drove my car. That’s not huge news, but I haven’t driven since before the accident last October. I wasn’t driving then, and hadn’t driven more than once or twice in the preceding months, but that seems a pivotal point.

I have never really felt comfortable driving with my hands, but I’ve always enjoyed driving and the freedom it brings. Getting from A to Z is so much easier by car. But I don’t drive alone since my illness. I can’t lift my wheelchair out of the boot, and if anything happened where I became unable to continue driving I’d be stuck.

It was a sudden decision to drive yesterday. I wanted to go to visit my brother who lives about two miles away. A quick and easy drive. And I did it.

Dilemma

This made me think even more about our car dilemma. We get a car on Motability. This means that in return for the disability benefit I get for being unable to walk can be used in exchange for the three year lease of a new car with insurance and breakdown recovery included. We are due a new car this year.

I know I don’t always talk about everyone but we are actually a family of seven living together. Sometimes, we want to go out with more than five of us in the car. This means either a taxi to help or Graham has to make two journeys. It would be nice to go out more as an extended family without this issue so we have made the decision to get a bigger car, one with seven seats.

This decision comes with drawbacks. Seven seat cars require a deposit and with limited funds it means we are limited to which we can choose. (I’m talking thousands of pounds here.) There are actually only two cars we can afford and we have been weighing up the pros and cons. The one we finally decided on we have discovered that we cannot have it as an automatic car. The implications of this means that we cannot have hand controls fitted and I won’t be able to drive it.

The other car is still an option and we will take a look at it before making a final decision. The main issue is that it won’t have enough room for my wheelchair if we all use the car. So, we can all go out together but I won’t be able to get very far when we get to wherever we are going. We may find that the wheelchair can be fitted in somehow, or maybe my manual chair will fit. That’s why we are going to view it.

So, here is my dilemma. We get a car that is most useful for us as a family but I won’t be able to drive it. It’s only for three years, and so many things can happen in that time. So maybe we won’t need seven seats by then and I can go back to driving. Do, I sacrifice driving for three years?

The answer is there really. Why should we not get the type of car we really need, just because I will miss driving. I can’t even go anywhere alone, I need another driver with me.

Still, it’s another thing that I must give up because of this stupid rare condition.

Wood Watches for a Unique Style

April 12, 2019 by Anne Sweet 10 Comments

I have been gifted a gorgeous wood watch from Jord (pronounced like Yoda without the a.) They have also given me the chance to offer you, my readers, the chance to win $100 off a watch too. Jord offers free shipping to the UK and the rest of the world and make a huge selection of unique wood watches.

Jord Zebrawood and Champagne watch in the box it arrived in. — *The Frankie in Zebrawood and Champagne*

The Frankie Watch

The watch I chose is the Frankie watch in zebrawood and champagne. The Frankie comes in many other colour ranges and I was tempted by the Purpleheart and Plum, but in the end I couldn’t resist the zebrawood.

A close up of the side of the watch strap showing the zebrawood — *zebrawood*

Zebrawood is native to South Africa and considered a luxury wood. The striped pattern occurs naturally and it really is beautiful. The contrast is stunning and it feels light with an exceptional finish.

I chose the Frankie watch because I loved the minimalist style. The face is easy to read and the case is slim. It’s comfortable to wear and totally functional. The clasp is a deployment buckle with push buttons which are easy to use.

A close up photo of the watch clasp which is black against the zebra wood. — *The Clasp*

The watches are made to fit your wrist but come with additional links just in case. It also comes with tube of preserve to keep the wood looking great, and a soft cleaning cloth.

The watch displays hours minutes and seconds and it’s easy to read. The battery should last two years, before it needs replacing.

Watch face in champagne colour — *watch face*

Win $100 Towards a Unique Jord Wood Watch

These watches are just beautiful timepieces that anyone would love to own. Jord have so many to choose from it is easy to find the perfect watch to suit you.

Imagine what a wonderful gift they would make too. It’s Father’s Day soon and any Father would be sure to love one of these watches, you can even ask for engraving.

Jord have offered my readers the chance to win $100 towards a watch of their choice just by clicking through my special link and filling out the form.

You can find out more about Jord by checking out their Social Media Accounts.