Show Your Rare – Make Them Listen

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?

  • disease is a pathophysiological response to internal or external factors.
  • disorder is a disruption to regular bodily structure and function.
  • syndrome is a collection of signs and symptoms associated with a specific health-related cause.
  • 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)

Zebra Child of a Zebra Mum

I have to admit, my daughter, Star, has been a zebra longer than me. A medical zebra I mean, someone who suffers from a rare condition.

The problem with rare conditions is that Doctors tend to look past them and blame something else. They are looking for horses, not zebras. Star’s problems started when she was young and she would suffer pain in her knees. We had her checked out and they said she was hypermobile and would grow out of it. Hypermobile generally means bendy, or double jointed. There are certain stretchy tests that can be done to diagnose it, but it’s not rare, it’s very common.

Star’s neck

It wasn’t until Star woke up one day with a wonky head that we started to get closer to the real reason for her pain. But even then, after a trip to A&E we were told she would just get better in a couple of days. Again, they were looking for horses. A couple of weeks later and several visits to A&E I finally got them to take me seriously when I told them she’d had an accident and fallen off her scooter. I lied and I’m not proud, but this simple lie opened up so many other doors to her that had otherwise been shut. For starters they gave her a scan. They had refused to do this before because you don’t get serious neck damage without a prior accident.

The scan showed that her discs at the top of her spine had dislocated and she was admitted to hospital. This was not going to right itself. In fact it took 18 months and five trips to theatre to put it right.

little girl in hospital with a medical halo

This was four years ago now and Star still has limited movement in her neck, and it’s still very slightly wonky. Eventually, I made the consultant believe me when I said that she hadn’t had an accident and this had happened by itself. He sent her to see a rheumatologist who suggested she had a connective tissue disorder, Elher’s Danlos Syndrome. This fitted in with her history of pain, her joints had been constantly subluxing, or moving out of place. Since then she has dislocated both her ankles and her wrist. She still gets knee pain and can’t walk far without being in pain.

We are currently under a geneticist who is trying to determine which type of Elhers Danlos Syndrome she has. She still doesn’t fit in neatly. She doesn’t quite have the flexibility of type I, and she doesn’t have definite features of many of the other’s. It was considered that she may have Marfan’s Syndrome as her limbs and digits are unusually long. She was even tested for Loey Dietz syndrome but that came back negative. At present she is having regular check ups with her consultant and also regular checks on her heart and eyes as these can be affected. We are hoping that maybe one day we’ll have a definite diagnosis, but for now we are just happy that we are finally being taken seriously with her health and she is getting the check-ups that she needs.

Rare Disease Day 2018

February 28th is Rare Disease Day, an international event where those with rare conditions are shouting out so that Doctors will realise that we don’t all fit in the same mould. As well as education, more research needs to be done to help people get the treatment they require. Many people with rare conditions can go undiagnosed or improperly diagnosed for many years. There is still so much to learn and that can only be done when we stop looking for horses and accept that sometimes there are zebras too.

You can read my story here.

Help Keep Families Close – Ronald Mc Donald House Charity

Today I want to tell you about a charity that is close to my heart.
Ronald McDonald House Charities provides free ‘home from home’ accommodation to families while their child is in hospital.
This Saturday McDonald’s restaurants are helping this charity.

McDonald’s restaurants around the UK will be bringing the jungle theme to life this Saturday 22ndOctober, with four new wild animal soft toys for customers to purchase for £2.50 each from the Kiosk, front counter and Drive-thru window, with 100% of donations going to the charity.

 Mc Donalds Restaurants are helping RMCH charity 
Back in 2013 my little girl had a problem with her neck. We took her to A&E several times before she was admitted. This was the first of three stays in hospital over the next 18 months. The first time she was admitted we were offered a place to stay at the hospital’s Ronald McDonalds House. Although we lived in the same city, it was still a forty minute drive away from home to the hospital and with two other children there was a lot of juggling going on as at least one person had to be at the hospital with Star at any time. 
Little girl in hospital after an operation
Having a child in hospital is a stressful time and being near to them is very important. It’s important to have all the family close because the siblings of the sick child also have to suffer a complete disruption of their lives. It’s times like this that families need to be close and Ronald Mc Donald Houses offer this opportunity. Sometimes you have to travel to a different city to be with your child in hospital. Imagine how expensive it would be to have to stay in a hotel. Ronald McDonald houses offer their accommodation for free, you have to pay a refundable key deposit which is  not very high. It’s a lifeline for many parents and their families during a very stressful time in their lives.
Having Mc Donalds restaurants on board means they can raise the money they need to keep the houses running. Every little helps so if you can do go along to Mc Donalds this Saturday and buy a toy or pop a little in the box.
man giving money to charity in Mc Donalds Restaurant
Kids love going to Mc Donalds, I know mine do. We have one close by and we will be visiting this Saturday for a spot of lunch. I’ll make sure my change goes in the box and I will treat my kids to a cuddly toy. It will be my way of saying Thank You to Ronald Mc Donalds House and all that they do. Will you join me?
cuddly jungle themed toys available to buy at Mc Donalds
Still not convinced, then please watch this video featuring celebrity dad and ‘Help Us Keep Families Close’ campaign ambassador Jeff Brazier.

If you would like to know more about Star’s journey please check out my other blog www.Zebra Hooves.co.uk Or click the link ‘My Little Zebra’ at the top of this page. 
Disclosure: This post is a sponsored post. All thoughts and opinions are my own.
I will be giving most of the money I earn back to the Ronald Mc Donald House Charity. (I’m keeping some to pay for our Mc Donalds meal.) 

An Animal That Means a Lot to Me

Day 11 of Blogtober16 and the prompt is simply ‘favourite animal.’

Well, I’m a cat lover and proud of it. I also have two gorgeous Roborovski hamsters that are so tiny I can fit both in the palm of my hand. Well, I could if they got on, one of them is a bit of a bully and attacks the other whenever they are together so now they both have separate cages.

But…I wanted to do this post with a twist and say…

Zebra

a zebra in the wild
image curtesy Weknowyourdreams

The zebra means a lot to me and my family because both me and my daughter Star are medical zebras.

This means we both have very rare medical conditions. Why zebra? Well medical students are taught to look for the obvious and not to get caught up in a rare diagnosis. The saying goes; “When you hear hoof beats think horses, not zebras.”
We have both been fairly lucky. It took a while to convince my daughter’s consultant that she was a zebra, but once we did she has been given a lot of help. She has Elher’s Danlos Syndrome which is a connective tissue disorder. There are seven types of EDS and Star is still being tested to find out which type she has. Mostly her condition is invisible and she looks like every other child. However, it wasn’t invisible when the connective tissue holding her neck up became too lax and her cervical spine was damaged.
my little girl lying in bed with her cervical halo
This is Star wearing her cervical halo. I took this photo because some people thought we took it off for her to sleep in. Nope, a halo is fixed into the skull and cannot be removed except by a surgeon. She had to wear the halo twice, for around thirteen weeks each time. 
Star has had a fixation, which means her neck is held together with screws and titanium plates. Without it her future would have been bleak, if she actually would have had one.
So she is one special little zebra.
As I said at the beginning, I am also a zebra. I went into hospital this year on January 1st with a mystery condition which left me paralysed. I had a condition that affects only 300 people a year in the UK. I wasn’t lucky to get the condition but I was lucky to get a consultant that knew what it was straight away and giving me the best chance of recovery. 
The bad news is that so little is known about the condition I don’t really know if I will recover, but I can keep on hoping and working towards recovery. One day I could be free from pain and be able to walk normally again. One Day I will as free as a zebra! 
I hope you don’t mind me turning this around from being about an animal but I do like to take the chance whenever possible to let people know about these rare conditions that have blighted my family. 
You can find out more about Elher’s Danlos Syndrome here, or read Star’s Story here.
You can find out more about Transverse Myelitis here, or read my story here.
Thank you x
#Blogtober16

Eight Months Ago Today

Eight months ago today my daughter woke with a stiff neck. It got worse, I took her to the GP. It didn’t get better so I took her to A&E, and now, eight months later things are still no better.

At first she was treated with a neck collar and regular physio therapy. That didn’t work and she actually got worse so she was given a manipulation to put the bones back in place and fitted with a halo to keep her neck straight. This took three months, thirteen weeks to be exact. The day the halo came off her neck twisted again.

Yesterday we found out that one of her bones had deteriorated, probably due to rubbing against another bone when her neck was at it’s worst. Now the bones will not stay in place without help. This means an operation and the return of the halo.

Star cried when she heard the news. She had gone into the appointment her bubbly cheerful self. She had picked up a Stop Smoking leaflet in the waiting room and told the nurse that she was going to give it to Daddy because she wanted him to quit smoking. She was chatty and happy. We’ve been in that consulting room so many times, we’ve been given bad news so many times, but nothing has phased her. Until today. Today she cried. I cried with her, how could I not.

She wants this to go away now. She loves the hospital, she loves the nurses, they all make such a fuss of her. She actually enjoyes her stays on the ward.

She’s had enough now, she wants it to stop, she wants to be fixed, or left alone.
I’ve had enough too, it’s not easy seeing your child suffer. It’s not easy transforming your life to fit around a child that is sick.

It’s scary thinking what might happen.
Very scary, but you have to hide it for fear of scaring her.

I hope and pray that my little girl will be fixed soon and all this will a nightmare of the past.

A little Note About Positive Reviews on Raisie Bay

A little Note About Positive Reviews on Raisie Bay

Some people only write reviews when things go wrong with products, which is good because it lets people know that there could be potential problems. I’ve also seen negative feedback with say things like, I had to return this item because the colour did not suit me…is this useful?

I write reviews on most items I buy because I like to give genuine feedback. If I have a genuine problem with a product I will write my review in the appropriate place.

I write reviews on my blog too, but they are mostly positive. Why? Because I only write reviews for the things I’ve loved. If I don’t love them I let the person who sent me them know with details why and then let them decided if they would rather me write a negative review or not write one at all. It’s always the latter.

This is my blog, my place and I’ll let you know about the things I love. If you want to find out what other people have hated about the product then you will need to look elsewhere.

My reviews may all be positive, but they are still genuine.