Thursday, 28 February 2019

Rare Disease Day 2019 - A Little Bit About Tuberous Sclerosis

Today is Rare Disease day across the world which I wrote my first post about last year!

Rare Disease Day aims to raise awareness of rare conditions and how they affect individuals and their families. 1 in 20 people will develop a rare disease in their life so that's why it is important that more people become aware.

50% of rare diseases affect children.

Nola is one of those children. She has Tuberous Sclerosis Complex (TS/TSC) which looking at current figures, affects 1 in 25,000 to 1 in 11,300 people in Europe.

It is present from birth but some individuals do not learn that they have TS until they are adults. Symptoms differ from person to person as does the severity of how it affects them.
Tuberous Sclerosis causes benign tumours in different parts of the body, the most common to be affected are:

The brain, eyes, lungs, heart, kidneys and skin.

If you have them, you are born with the tumours in your brain, heart and eyes (possibly elsewhere but I'm not 100%) in other organs the tumours can develop later on. The good news about tumours in the heart is that they usually shrink as you get older. This has happened in Nola, a second ECG revealed that the rhabdomyomas on her heart had decreased in size.

At present Nola also has tumours in her left eye which fortunately don't affect her vision at the moment. She also has multiple growths in and on her brain, these unfortunately do affect her and she has epilepsy which on the whole has been controlled by medication. Unfortunately she has recently relapsed in a rare type of seizure called infantile spasms.

Some people with TS lead a next to 'normal' life whilst others are severely affected and need life long care.
TS is caused by mutations in either the TSC1 or TSC2 gene which play a part in determining cell growth. The mutations cause uncontrolled growth which results in multiple tumours in/on the body.

There are treatments for the various areas that can be affected by TS, sadly they do not always work for every patient.

So there are a few facts about Tuberous Sclerosis on Rare Disease Day 2019.

Wednesday, 19 December 2018

Nola's Journey-Diagnosis Tuberous Sclerosis



TUBEROUS SCLEROSIS, not to be confused with Tuberculosis, as I did when I was handed a discharge letter after Nola's first MRI scan on 19th December 2017. They may as well have handed me an atomic bomb, our world was about to crumble into pieces.

Nola and I had arrived on the children's ward at 8am that morning ready for her MRI scan which had been scheduled after she'd been admitted to hospital earlier in the month (I will be writing about how we got to this point in other posts) and an EEG showed abnormal activity in the brain.
The anaesthetist came to see us and talked through procedure, risks etc and presented the consent form that I needed to sign.

I was hoping my three month old would be first on the list for the MRI as she was being starved due to needing general anaesthetic. I was anxious when a toddler who I assume had been an inpatient was taken down first. I expected Nola to be screaming the ward down as she hadn't had any milk for hours. She surprised me though and was bloody amazing!

Fortunately Nola was next on the MRI list and we were walked down to the unit by one of the lovely play workers. There were a team of people waiting for her, they introduced themselves and then it was time to lay Nola on the bed ready to be anaesthetised. They had explained that I could be with Nola whilst they used the gas to put her to sleep, then I would need to leave. I remember holding back the tears asI stroked her face and then had to leave her. I was anxious about her being under GA. I had been told it would be about half an hour to get the images needed from the MRI so I headed back to the ward and made myself a coffee.
About twenty minutes later I went back down to the MRI suite and took a seat in their waiting area. The time went past half an hour and I wondered why they seemed to be taking longer with Nola. Now I presume it must have been because they struggled to get a cannula in for the GA or because they had found something and were ensuring they had all the images they needed.
My brave girl!
Eventually a nurse came to get me and took me through to the recovery area where Nola was a very unhappy bunny. Fortunately I had brought her milk down with me and was able to give her her bottle. 
One of the staff then said we would be going straight through to ultrasound to scan her kidneys as they had 'possibly' picked something up.
I had to sit on one of the wheeled transport chairs holding Nola while we were pushed through an incredibly busy ultrasound unit and straight into the room to be scanned. I wasn't told anything at this point and we were sent back to the ward where Nola needed to be observed for a couple of hours after the GA.
Cannula in the foot :(
I watched the family who had gone for the MRI first go home after the observation period so was more than hopeful that Nola and I would be escaping pretty soon. The couple of hours passed and I asked the nurse who was looking after us if we would be able to go soon. She wasn't really sure what was happening. Eventually the consultant who had admitted her a few weeks earlier and referred her for investigations came to see us. I can't recall the exact conversation but do vividly remember the words 'they did find something'. She possibly told me at this stage the MRI images had been sent over to Addenbrookes for the paediatric neurology team to look over.
The hours passed and I felt frustrated being stuck on the ward with no further information. There was a teenager in the next bed that had been stabbed and had been transferred over from another hospital That family were feeling frustrated too, they were still waiting for a doctor to come and see them. To be fair to the staff it was incredibly busy and I know they had to send patients to another hospital as the children's ward was full to capacity and they had no beds to admit anyone else.

Finally a registrar came to see me, she said they had found growths in Nola's brain. She also said they were benign and 'nothing to worry about' (I quote those words exactly!) I asked if she would need to have an operation to remove them but she said that wouldn't be happening and the team at Addenbrookes had seen the images. She said we were able to go home and said she would tell her nurse to remove Nola's cannula. 
We were still there for over an  hour waiting. The same Dr came back and gave me Nola's discharge letter which I opened and read. It obviously contained lots of medical jargon, much I didn't have a clue about. Then I read the phrase 'findings highly suspicious of tuberous sclerosis'. I read in disbelief as my brain turned it into something I understood, tuberculosis. How on earth could she have that? She'd had the BCG jab at a couple of weeks old and how on earth could the growths in her brain have anything to do with her longs. Then I stopped myself and read it again, this time it was clear it was something else, something I had never heard of. So I did what we all do and typed it into Google. I read the definition etc on the NHS website  but the enormity of this 'highly suspicious' diagnosis did not sink in just then. I was cross though, I was cross I had been handed a letter with a life changing highly likely diagnosis and no one had spoken talked me through it. I did message my old boss (a paediatric consultant) and sent her a picture of the letter, I asked her what it meant and what I should be asking. She replied asking me if anyone had spoken to me about it and that she'd really prefer to talk to me on the phone. It wasn't until Christmas Eve I actually got to have a proper conversation with her.

In the weeks/months that followed we had lots of various appointments with Nola. Finally in May this year her genetics doctor rang me and confirmed that her genetic blood test was positive for Tuberous Sclerosis. All the investigations running up to this phone call only pointed towards TS so I already knew but it was relief to have a certain diagnosis.

Do keep an eye out for more posts on Nola's Journey that will be coming soon!

Thursday, 13 December 2018

Saturday Lunch At A Sizzling Pub & Grill


A couple of weekends ago we went to The Top Of The World Sizzling Pub & Grill for a spot of lunch. We've visited different sizzling pubs before, one of their highlights is the variety of offers. I assume the offers may differ from venue to venue but there always seems to be an option to take advantage of. I am a fan of the 'Kids eat for £1' Monday to Friday between 3pm-7pm, a good one with the Christmas holidays coming up if you've had enough of slaving away in the kitchen!
 We visited on a Saturday afternoon when a football match was on, the bar area was fairly busy with football fans but there was plenty of room at the tables. We sat down in quiet area and browsed the menu. There is a selection of starters the that you can choose three from for £10. We went for some of  our favourite starters, nachos, loaded potato skins and beer battered salt and pepper mushrooms. 
They arrived shortly after we'd placed our order. They loaded potato skins and mushrooms were nice and hot and we enjoyed them I personally believe you can never go wrong with nachos, cheese, sour cream and guacamole! They're always a winner for me!
 For the main course we both ordered steak and Eliot opted for the quorn nuggets with chips and peas which he clearly enjoyed as he cleared his plate! Another great part of the kids menu is that there is a choice of dishes for under and over 5's making it easy for you or the littles to choose either by preference or appetite.
I had ordered the 8oz sirloin steak which was served on a skillet with onions, a mushroom and a tomato. I like my steak to be 'well done' which it mostly was but it was still a little pink in the centre. The chips were nice and chunky and served hot. Overall I enjoyed my main and there was nothing I could fault about it.
The other main meal that was ordered was a surf and turf which is usually a 5oz sirloin steak with six pieces of scampi. There was an option to upgrade the steak for a larger one at an extra cost. This steak was ordered to be cooked 'medium' which it was and again it was served on skillet with onions, tomato and mushroom as well as a slice of lemon for the scampi. Like my main, there was no faults with this one.

 Finally it was dessert time and Eliot had made sure he put his order in when we had ordered the starters and mains! He ordered a 'Build your own sundae' which came with vanilla ice cream, chocolate buttons, chocolate sprinkles, chocolate sauce and strawberries. He was very excited about pudding, he always loves being able to do his own thing so was very happy! 
 My decision on dessert was not as quick as Eliot's, I had a good look over the options and was torn in-between choosing a sundae or the Belgian chocolate brownie. I opted for the brownie and was pleased with my choice, it was lovely, warm, and chocolate-tie. Just the sweet treat I needed!

 The other dessert we ordered was Rolo Cheesecake, sounds amazing! Now wondering why I didn't have a sneaky little taste but sure it was because I was full. It was another well received pudding and not much was left over! If cheesecake is your favourite type of pudding an you love Rolos, this sounds like the perfect dessert!

Overall we had an enjoyable lunch at The Top Of The World Sizzling Pub and Grill, there was nothing to fault about the food we ordered. I feel that the atmosphere was probably  different to what it is usually like due to the football being on. Not that it had been an issue for us but I had the feeling it would have felt completely different without a football match being shown.

Be sure to check out the menu and find your nearest Sizzling Pub & Grill, and don't forget to sign up to get £5 of your bill!

*We received a complimentary meal in exchange for a review. All views are my own

Friday, 7 December 2018

Baby Swimming Lessons With Turtle Tots

You may remember that earlier in the year Nola and I were chosen to be brand ambassadors for Turtle Tots.  I was excited to become an Ambassador for the brand as I am a firm believer that swimming is a life skill, so the earlier you start the better!
We started our lessons in May and did about three weeks worth before Nola was prescribed steroids for Infantile Spasms. Her consultant told us that within a few days her immune system would be suppressed making it easier  for her to pick up bugs. He also told us that if she had contact with anyone who developed chicken pox she would need to be admitted to hospital. Cue paranoid mum syndrome! But in all fairness it was certainly justified! Armed with the info from her consultant I made the decision to avoid public places as much as possible which obviously affected our Turtle Tots lessons. Turtle Tots were understanding of our situation and kindly agreed we could pick up with our lessons again when the steroid treatment finished. 
Back to the start of our lessons in May! We were actually late for our first lesson due to bad traffic, by the time Nola and I were changed the class was 10-15 minutes into the lesson. The class teacher Lyndsey asked if we wanted to watch as we'd missed the beginning but I was keen to get in! As I'd expected Nola was absolutely fine getting into the water. She was very happy to be involved in the activities even though this was the first time she'd been in a swimming pool.
In those first few weeks back in the summer she didn't protest once about being in the pool! She was fine being dunked under the water too, I think it's us parents that worry more about things like that!
It was such a shame we had to postpone the lessons as we were both really getting in to them!
When we returned to our lessons in October Nola was certainly more wary, being that much older and aware made a difference! 
Our lessons begin with the class teacher Lyndsey taking Nola as I get into the water. We then usually bounce around in a circle with the other parents and babies singing a song. It's a nice way to ease the babies into the water and makes it fun.
 On our first lesson back Nola probably cried for half of the lesson but we powered through! We were reassured by Lyndsey, who was understanding and always encourages us parents to go with what our babies want to do. Nola had lots of cuddles throughout the first half of that lesson but fortunately had settled in to the pool for the final half of the lesson.
Each week the lessons follow a similar routine which is obviously important in helping your baby become familiar and relaxed with their swimming lessons. 
Once babies have settled into the pool after some singing and moving around, we get them used to water on their face which helps them prepare for going under the water. The same phrase is said in each lesson to enable babies to understand what is going to happen next. Parents will say 'mummy/daddy ready go' and pour water over their head before saying their babies name and doing the same to them. Nola hasn't minded the water being poured over her which is interesting as she is not a fan of having her hair washed! This activity gets the babies geared up for their 'peek-a-boo' swim. Parents always do the under water activities first, showing their little ones its fine to get your face and hair wet. The 'peek-a-boo' activity begins with the parent saying  'mummy/daddy ready go' before putting their face in the water and then doing the same with their baby. It's easy to the progression throughout the lesson! 
The first week back I didn't put Nola under the water, Lyndsey is always flexible about this and always reassures parents it's ok if we don't want to put our babies under or if they're having an off day.  There has been no pressure that the babies must do every aspect of the lesson, it really has been 'a go with the flow' vibe which has been great.
The lessons normally continue with more singing and fun activities which aim to instill those early basic swimming skills, such as leg kicking and paddling your little ones arm through the water.
The lessons end with a bit of a wind down with the babies floating on their back and singing the end of lesson songs.

It is probably clear from what I've written above that Nola and I have been enjoying our Turtle Tots swimming lessons. Our lessons are in a private school pool which means the class has full use of the pool making it a far more relaxed environment than a busy public pool. The changing room can be a little cramped depending on how may people attend the lesson but thankfully the lack of space hasn't been an issue.
What I'm impressed with most is the progression within the lessons and the activities which promote those important swimming skills.

If you're interested in swimming with Turtle Tots head over to their website to find your nearest class.

 *We are 2018 Ambassadors for Turtle Tots and are receiving lessons in exchange for blog posts. All opinions are my own

Sunday, 18 November 2018

Halloween With The Lenovo Smart Display

On Halloween Eliot and I headed into London for an event with Lenovo hosted by the lovely Kimberly Wyatt, to find out all about the new Lenovo Smart Display with Google Assist. I was keen to learn more and hear about how the product can make everyday life that bit easier, which is what everyone wants especially when juggling parent life.
 On arriving Eliot was wowed by all the pumpkins and amount of halloween spookiness going on but was quickly drawn to the space at the table which had the Lenovo Smart Display in front of it. He is very much in to technology so he'd found the perfect place to sit to explore and get hands on. Except because he was expecting it to be like his tablet at home he wasn't as successful as usual at getting where he wanted. That was until one of the Lenovo team gave him his own personal demo on how to operate the Smart Display, by talking. Once he'd been shown how to use it he enjoyed asking questions such as 'how fast does the Eurostar go' and 'who is Jack Sparrow', he was delighted when a photo of Johnny Depp popped up on the screen!
 I myself was already wowed from watching my five year old get to grips with it and could see how it could be beneficial to busy parent life.
I was intrigued to hear more about it, and listened intently when one of the Lenovo team introduced the Lenovo Smart Display.  She explained how she used it herself, what her favourite features were and about the design of the product. 
The product is available in two different sizes, 8" or 10" aiming to suit each individuals preferences, whether you prefer viewing on a larger screen or usually opt for something a little more compact the choice is yours. I thought the overall look was sleek and smart and there is even a choice about the back of the product, bamboo or grey. Both appearances appealed to me.
 Kimberly Wyatt then showed us all how to use it, all hands free just using her voice. I mean imagine the possibilities! We've all needed an extra pair of hands at some point and the Lenovo Smart Display with Google Assist literally allows you to have them. Instead of scrolling down for the next part of a recipe when cooking or wanting to skip to a particular instruction in a video, you just use your voice to get to the bit you need. For example  if you're watching a video, by saying 'Hey Google, skip to four minutes' etc you will get to the bit you want, all hands free. 
It can also be used for the usual routine things like checking the weather or your calendar that much easier without having to take your hands away from whatever you're doing. 
It also gives the user peace of mind by being able to turn off the mic or camera so you don't have to worry about your privacy. Using the Google Home App you can update and make changes you need for your Lenovo Smart Display. If you have a home system such a 'Nest' you can also operate this through the Smart Display.

We then participated in activities with the Lenovo Smart Display on hand to assist. Our first activity was face painting which I discovered I'm not too good at. However, being able to watch what to do   without having to put down the equipment we were using made it much easier!

 Next we moved on to decorating skeleton biscuits back in Eliot's 'space' next to the Lenovo smart display. A team member put the video on and Eliot watched carefully whilst decorating his biscuit, I was impressed at how similar his was to the 'perfect' video version, I felt it certainly made a difference being able to see what to do as opposed to just listening to instructions.



With Christmas rapidly approaching this is a gift you may want on your own list or perhaps you know someone who would benefit from making their life that bit easier by being more hands free!
You can take advantage of Black Friday deals on the Lenovo Smart Display, the 10 inch is currently on offer at £199.99 down from £229.99 and the 8 inch is down to £129.99 from £179.99.

*This is a collaborative post
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