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)

Juvenile Arthritis Research – A Guest Post

I’ve known Rebecca who blogs at The Beesley Buzz for a few years now and when she asked if she could write something for Raisie Bay I was happy to host. Rebecca discovered her young daughter had Juvenile Idiopathic Arthritis back in 2015. And now her husband Richard is doing something incredible to make a difference to the lives of children who suffer from JIA by starting the Juvenile Arthritic Research project.

I’ll leave it to Rebecca and Richard to explain….

We have loved reading Anne’s blog for so many years and one of the reasons that we keep coming back time and time again is because of Anne’s honesty when things are tough on the health front. Raising awareness of medical conditions, especially less common conditions, is so important – not least because others will know they are not alone when going through it themselves. Awareness can help early detection and diagnosis when symptoms first come about. Awareness can help with understanding and empathy. And so we were honoured when Anne agreed to host a guest post about Juvenile Arthritis. Despite affecting 15,000 children in the UK, many people are still not aware that arthritis can affect children.

What is Juvenile Idiopathic Arthritis (or JIA)?

JIA is diagnosed in children and young people under the age of 16, and is a different disease to adult-onset rheumatoid arthritis, and entirely different from age-related osteoarthritis. The term ‘idiopathic’ means that, despite a number of theories, the exact cause of JIA is currently unknown.
As we already mentioned, many people are not even aware that children can get arthritis. At present, there is no cure.

JIA is an autoimmune disorder where the body starts to attack the joints, causing inflammation, pain, discomfort and reduced mobility. Left unchecked, JIA can lead to other health conditions as the immune system attacks other organs, as well as permanent disability and long-term health implications. Many children with JIA suffer from uveitis, where the immune system attacks the eyes; if not stopped this can lead to permanent vision loss and blindness. Some forms of JIA lead to systemic inflammatory damage, where other organs are damaged and, in the most severe forms, this can be fatal.

Current treatments for Juvenile Idiopathic Arthritis

Nowadays there are a range of treatments available but no cure. The standard treatment is Methotrexate – a chemotherapy drug that works by reducing the immune system. This is often supplemented with other medications (such as painkillers and steroids) when required. However, methotrexate has side-effects and is not always effective. In fact, it is ineffective in treating JIA in around 35% of all patients. Where patients do remain on the drug, they often experience sickness (for which many take anti-sickness medications), hair loss, headache, mouth ulcers, and weakness. Methotrexate is also cytotoxic, and can cause liver damage for which regular blood tests are required.

Where children and young people are unable to take methotrexate, they may move on to ‘biologics’ – the next level of drugs. These work in a variety of ways, but all work to reduce the immune system.
As a result of having their immune system reduced, children and young people on anti-JIA medications are more likely to contract illnesses. Even relatively simple illnesses can become severe and life-threatening.

Prospects for children and young people with JIA

Around half of all children and young people with JIA will go into remission within ten years. However, the remaining half continue to suffer from the disease and need to take medication for life. This means that around 50% of all children diagnosed with JIA will continue to experience the negative symptoms of the disease, and the side-effects of the drugs, for their entire life.

What is life like for a child with JIA ?

Trinity is six years old. She was diagnosed with JIA when she was two. For her, JIA looks like this:
Weekly injections of methotrexate, causing sickness and increasing the number of other illnesses and infections she suffers as her immune-system is reduced

  •  Folic acid supplements six days per week (to combat the side-effects of the methotrexate, such as hair loss)
  •  Blood tests every 2 to 6 weeks (to monitor liver damage due to the methotrexate)
  •  Physiotherapy exercises at home five times per week
  •  Regular hydrotherapy sessions
  •  Regular x-rays, ultrasounds, and MRIs of affected joints to monitor progress
  •  Eye-drops during uveitis flare-ups
  • Antibiotics when infections set-in
  •  Podiatry-prescribed insoles
  • Specially-fitted shoes
  •  Use of a wheelchair during flare-ups
  •  Appointments with: paediatric consultants every three months: eye specialists every three to four months: paediatric physiotherapists every six months: podiatrists every six to nine months
  • Regular admission to hospital with secondary illness and infections

Trinity’s experience is not uncommon but, in some ways, she is one of the ‘lucky’ ones as her JIA is currently responding to methotrexate and joint damage is currently being prevented.

All of this is to enable her to live as normal a life as possible. She is not alone. There are thousands of JIA patients across the country, all of them on similar treatment regimens to Trinity. A life of injections and treatment, hoping for remission but planning for a forever without it.

The Juvenile Arthritis Research (JAR) Project

In January 2018, Richard Beesley took a step of faith and founded Juvenile Arthritis Research in order to find a cure for JIA. Richard has a background in biomedical research from the Institute of Child Health, and experience in running clinical trials and research programmes, and has worked in research, project and programme management in a number of public and private sector organisations – most recently in local government. He is the father of Trinity, who has had JIA since she was two years old, and husband to Rebecca who had JIA from the age of ten some thirty years ago.

JAR has the support and endorsement, both in terms of our aims and methodology, from the leading research teams in academic research. Our aim is simple – to find the cure for juvenile idiopathic arthritis.

Juvenile Arthritis Research is a project of the Jabez Charitable Trust. This allows the project to continue with minimal administrative overheads whilst having the integrity and accountability of a registered charity.

Further information

You can find out more about Juvenile Arthritis Research, including ways you can get involved and support us, at www.jarproject.org. Even if you cannot get involved yourself, simply sharing this blog post will help take us a step closer.

Mix It Up Linky

 

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.