Tag Archives: eosinophils

#NEAW2018: C is for Change

Leave a reply

May 23: C is for Change

The dictionary defines change as “to make or become different” or “an act or process through which something becomes different“, but what does that really mean in the context of raising awareness about a rare disease?

There are so many things that need changing when it comes to EGID, some of which we can actively work towards achieving and others which can be nothing more than a pipedream at the moment. Educating others about what EGID is and how it affects those diagnosed with it will hopefully bring about a change in attitude in both the community surrounding M and the wider medical profession. Even though this often feels like an uphill battle, it is an achievable target and something we should all keep working towards, chipping away slowly at the seemingly indestructible walls that surround EGID as a valid diagnosis. Those changes in attitude will help M feel less isolated by his health problems and more confident in being the unique individual he is despite his EGID and not because of it.

The 12-year road we’ve travelled since M was born has seen many changes and there is no question that there will be many more to be traversed as he grows towards adulthood. He’s gone from an active, can-eat-everything toddler, through a stage of being a tube-fed child taking 13 medicines multiple times a day to now being a tween eating 9 foods on a regular basis, taking 4 medicines plus a multi-vitamin each day and thriving. The next few years of teenagedom will undoubtedly bring a myriad of changes to be navigated, mostly thanks to those pesky hormones, and which will hit us in ways we can’t even begin to imagine. Who knows how treatments and medical breakthroughs will change as he gets older and the best change we can hope for is that his doctors will find a way to improve his quality of life beyond our wildest expectations.

What are the changes that M would most love to see happen?

  • To be eating as “normally” as possible. What he wants when he wants and with no repercussions at all
  • To be able to go without all of his medicines, especially the E028 drink, and not worry that a reaction could be just around the corner
  • And to not feel different, or alone, or set apart from his friends because of a condition that he can’t predict or control, but can just manage as best he can

What I want is not really a change at all. I want him and G to remember that they are able to live life to its fullest, loving and embracing every moment of it and grasping every opportunity that comes their way and making the most of them all.

Show Your Rare

1 Reply

The last day of February every year is recognised as Rare Disease Day. It’s a day to raise awareness of rare diseases and acknowledge the impact they can have on those living with them and their families. This year marks a decade since the first Rare Disease Day was launched and will see thousands of people from across the world come together to advocate for greater patient involvement when it comes to research into rare diseases.

Rare Disease Day was launched on February 29 2008 as “A rare day for very special people,” and has grown from being recognised in just 18 countries to now hosting events in over 100 countries worldwide. EURODIS, the European Organisation for Rare Diseases, organises the international campaign, whilst National alliances and other patient organisations host events locally. There are over 6,000 rare diseases known to be in existence and 80% of these have been identified as having genetic origins. Astonishingly, approximately 5 new rare diseases are described in medical literature every week.

Rare diseases can affect everyone, they’re not fussy about who they pick on. Over 3.5million people in the UK are affected by a rare disease, which equates to 1 in every 17 UK nationals. Somewhere between 50% and 75% of rare diseases will affect children and scarily, 30% of rare disease patients will die before they reach their 5th birthday. The symptoms of a rare disease are frequently multiple and varied and not only are they not exclusive to that illness, but neither are they all experienced by all patients, which makes diagnosis a long and drawn out process. All too often the diseases are misdiagnosed and beneficial treatment can be unavoidably delayed. A lack of scientific knowledge and consensus throughout the medical community can add to the complexity of reaching a diagnosis and adds significantly to the burdens placed on the patient and their family.

Imagine being told that your child has a chronic illness that neither you, nor most of the medical professionals you’ll end up meeting from that point on, can pronounce – or have even heard of until that moment. Imagine finding out that that illness is rare: that around 1 in 10,000 people are diagnosed with the most common form, but that your child has one of the rarest forms and that there is little research into it. Imagine learning that even the medical community struggles to reach a consensus about this rare disease and whether it really exists or is simply part of a much bigger picture – and having to live with the reality of this rare disease and its effects on your family’s life on a daily basis.

And then imagine finding out, less than 5 years after the time when that initial diagnosis was finally made, that another rare disease has landed on your table and you need to find out as much as you can about it to make sure your growing child is receiving the very best care possible. That happened to us about 6 months ago, when we started to explore whether M could also be living with Mast Cell Activation Syndrome, or MCAS. It seems highly likely that he is as this is a condition that closely resembles EGID with its symptoms and is a problem with another type of blood cell: the mast cell. Treatment-wise, there is nothing more we can do than we are already doing in terms of his medication and dietary restrictions and so in many ways this is just another label to pop in our pocket and pull out from time to time. All we can do is stay positive, keep encouraging him to live life to its fullest and enjoy every moment we can.

 

NEAW 2016 – Giving from the heart

2 Replies

I can’t deny that this week has been a busy one, in fact, given we started our #NEAW campaign at the start of May, the whole month has been non-stop and it’s not showing any sign of slowing down just yet. The last couple of days have been particularly amazing and I’m still buzzing from the success of a combination of planned events, chance e-mails and an unexpected phone-call.

Today has been a real highlight for me. A few weeks ago, M asked the Head of his school whether as well as showing his EGID video as part of a whole school assembly during #NEAW, IMG_0460[1]he could also organise some break-time games to raise some money for Over The Wall, our chosen charity for this year. Having received the go-ahead, it was all systems go at 7Y2D HQ and M recruited some of his friends to help run the games on the day, whilst I put my thinking cap on to come up with some games that would appeal to the children as well as raise some awareness of EGID. We settled on 3 different games: Guess the name of the dog – he was called Phil after those pesky eosino-phils that cause all the problems; Guess the number of sweets – these were Foxes Glacier Mints as they are the only safe sweets M is able to eat and were crammed into one of his feeding bottles and the Eosinophil Treasure Map – find the eosinophils on the body to win a prize. I arrived at school ahead of morning break to set up the room and my helpers, including M in his wheelchair, turned up just ahead of a throng of excited children, eagerly clutching their money ready to have a go at the game of their choice. It proved to be such a roaring success that the queue was out of the door and I was asked if it was possible to come back for another 30 minutes during the lunch-hour, which of course I was delighted to do. In the end, I spent an hour and a half talking to a number of children about M’s condition, what we were raising money for and answering their questions as they thought of them as well as supervising the games. The school raised an amazing £81.30 for the charity and I am incredibly grateful for the support of parents, children and teachers alike who made the day such a huge success.

IMG_0464[1]

There are some more amazing fundraising opportunities coming up and I will be updating my blog as each happens.

Of course, we are delighted with the success we’ve enjoyed so far, but the giving is about so much more than the money we’ve raised for a fantastic charity. Earlier this week, FABED asked for a donation that comes from the heart and will have a long-lasting impact: the gift of time. The gift of 5 minutes to read more about EGID; the gift of the time it takes to share a blog post or information on social media to educate those around you about this illness; the gift of spending time talking to a family living with the condition to understand what they’re going through and maybe even offering some time to help them out, even in a small way. Never underestimate the effect of a friendly smile, a sympathetic word or the offer of a cup of tea. To an EGID parent that could be the action that saves their sanity on that day or helps them feel that they’re not fighting this battle on their own. If you can give a small donation that’s great, but your time is priceless.

 

As well as raising awareness of EGID this week, we are also fundraising for Over The Wall Serious Fun camps. If you are able to donate, even a small amount, that donation with make a big difference to children like M and G, who benefit massively from these camps. You can donate via my Just Giving page or the link on the side of this page. Thank you!

IMG_0467[1]

 

EGID – the real story

2 Replies

I am still reeling from the astounding response to my last blog post, Dear BBC Controller.  When I asked you, my wonderful readers, to share what I had written in a hope of raising some much-needed awareness about EGID, I have to admit to only expecting the odd person to possibly share the link on Facebook with a few of their friends and nothing prepared me for what happened next. From the 20 shares that I know about, that post gathered momentum and I experienced a fantastic demonstration of exactly what social media can do.  Within 48 hours of publication, that blog was viewed by over an amazing 1,800 people across 33 countries and the statistics are still creeping up on a daily basis.  I have been humbled by this response to my plea and I can do nothing more than extend my heartfelt thanks to you all.

One of the things I realised, however, is that I have never given a comprehensive explanation of EGID and that my last blog post may have left new readers wondering what on earth all the fuss was about. Those of you who follow my blog will have an understanding of how this chronic illness impacts our lives and for those who know our family personally, you have probably had a brief explanation of the disease along the way.  In that last blog post I didn’t want to go into the finer details of what exactly EGID is, so now I want to set the record straight, so to speak, and explain in a little more detail M’s condition.

17348-custom-ribbon-magnet-sticker-Eosinophilic+Disorders+++AwarenessEGID, or Eosinophilic Gastro-Intestinal Disorders, are a complex and chronic group of digestive system disorders caused by an abnormally raised level of eosinophils within the gastro-intestinal tract.  Eosinophils are an important type of white blood cell, which normally help the body fight off certain infections and parasites and are typically involved in attacking the causes of allergic reactions, thus protecting the body.  In some individuals, the body produces too many eosinophils in a particular part of the GI tract, which leads to chronic inflammation and can cause extensive tissue damage in that area.  It is currently thought that there is both auto-immune and genetic involvement in EGID, but further research will be needed to confirm these links.  Like many inflammatory bowel diseases, EGID is a classic waxing and waning condition, meaning that the symptoms and their severity can change on a daily basis.

This family of rare diseases is diagnosed depending on where in the GI tract the elevated eosinophilic count has been found:

  • Eosinophilc Oesophagits (EE or EoE) – in the oesophagus and is the most commonly diagnosed form of EGID
  • Eosinophilic Gastroenteritis (EG) – in the stomach and/or small intestine
  • Eosinophilic Enteritis (EGE) – in the small intestine
  • Eosinophilic Colitis (EC) – in the large intestine (colon)

This last one is the type that M has been diagnosed with, which means he has, in typical M-fashion, a relatively rare type of a rare chronic illness.  Statistics are not readily available as it was only first recognised during the first half of the 20th century, but over the last 20 years, cases have been recorded in the UK and there are currently in the region of 700 cases looked after at Great Ormond Street Hospital.  This suggests around 2,000 diagnosed cases across the UK as a whole and there are also known cases of EGID in other countries, including Australia and Canada, with a starting point of 3,000 people diagnosed in the USA.

Symptoms of EGID include:

  • Diarrhoea
  • Constipation
  • Blood and/or mucous in the stools
  • Stomach pains
  • Lethargy
  • Mouth Ulcers
  • Rash
  • Asthma attacks
  • Sore throat
  • Joint Pains
  • Headaches
  • Vomiting
  • Nausea
  • Reflux
  • Failure to thrive
  • Sudden weight loss
  • Loss of appetite
  • Mood swings
  • Excessive sweating/body odour
  • Loss of colour in the skin
  • Dark rings under the eyes

None of these symptoms is exclusive to EGID and not all are experienced by all patients.  We had noticed a number of these with M in the years leading up to his diagnosis and it was the odd combination of them – diarrhoea, poor weight gain, joint pains, mood swings, excessive sweating, body odour and dark shadows under his eyes – that led to our conclusion that this could well be what he had.

As eosinophils are part of the body’s response to allergic reactions, it comes as no surprise that many people with EGID also struggle with a varying level of food and environmental allergies. What makes it even harder is that these allergies can also wax and wane and therefore can change over the years.  allergiesWhen M was diagnosed we were asked to put him on a MEWS (Milk, Egg, Wheat, Soya) free diet, which is a common starting point for those with EGID.  Over the years, we have also had to remove gluten, potatoes, raisins and raspberries from his diet to try and alleviate his symptoms and we still don’t seem to have the answer to whether this list is complete or not.  Some of the lovely families we have met through FABED have had to go a step further and remove all foods from their child’s diet due to a constant flare-up of their EGID. These brave children are now tube-fed an elemental diet in an attempt to help them feel better and grow stronger.

These families have to cope with numerous hospital visits, regular hospital stays, invasive diagnostic procedures such as colonoscopies and endoscopies, tube-feeding, colostomies, huge amounts of medicines daily and the unavoidable emotional fall-out from children who long to be just like their peers.  All of this is why it’s important that the media realises that EGID is not about “Mr Allergies” and why such factually inaccurate portrayals of chronic illnesses are problematic for this EGID Mum.

 

If you are interested in finding out more about EGID, you can also look at these sites: 

FABED   CURED    Apfed   ausEE

***Breaking news – today I received an e-mail response to my complaint from the Holby City series producer.  He has offered to look into the research done for this story-line and will discuss it with me, over the phone, later this week***