Tag Archives: elemental feed

A Brewing Storm

Yesterday a social media storm hit the EGID world, especially for those of us who are, or who have been, under the care of Great Ormond Street Hospital over the last few years. The reason? A story published by The Guardian newspaper on Saturday night, which has raised questions about the treatment of patients of GOSH’s gastro department following a huge number of complaints from parents and successive reviews of care carried out by the RCPCH (Royal College of Paediatrics and Child Health) since 2015.

As a parent to a child with an EGID diagnosis and one that was given by GOSH at that, this story is heart-breaking and yet one that I know needs to be told. Whilst M has never been subject to the “aggressive treatment” described in the reports published by The Bureau of Investigative Journalism (see here and here), we have struggled with our own issues rising from some of our experiences during inpatient admissions at GOSH and I have always been open and honest in sharing these via my blog. We have made complaints, challenged M’s consultants and spent time talking to the Chief Exec to try and make sense of it all and improve the way that, not just M, but other children have been treated whilst they’re there.

Last summer I shared my fears about the huge question marks that have been hovering over the EGID diagnosis for a while and how they could impact on the treatment and care that M receives from the medics in our lives. This week my fears grow even greater as the TBIJ documentary investigating these allegations about GOSH will be aired on ITV1 at 10.40pm this Wednesday, April 18th. Whilst I know that the documentary is seeking to reveal the truth behind some of the treatment decisions made for certain families, there will undoubtedly be concerns raised about the veracity of the diagnosis of EGID itself and with that comes inevitable questions about whether any of those diagnosed with EGID are genuinely living with it, or not. Comfortable viewing it may not be, but I will be watching it – and probably keeping my eye on the resulting social media frenzy too.

At the end of the day, I’m not really that bothered about what the label itself actually is for M – EGID, MCAS, food allergies or something else – as all I want is a better life for him and the others who find themselves in the same boat. As I said last year,

“For us, and for the families we’ve got to know who live with it, EGID is a part of our lives that we have to accept and learn to come to terms with, no matter what discussion is being had in the medical world. It might not be clear whether EGID is in itself the final diagnosis, or if it is simply part and parcel of a larger problem that is, as yet, unknown, but it is our reality and it shapes every step that we take.”

*You can read a more in-depth, first-hand commentary about this GOSH story here

NEAW 2017 – His illness does not define him

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Our life experiences influence our view of the world that surrounds us. Good or bad, everything we do or see or hear or learn will affect our outlook on life, on whether we become individuals who see that hypothetical glass as being half-full or half-empty and how we react to our interpretation of that reality. When you’re growing up with a chronic illness as your one constant companion, it can come as no surprise that that condition begins to shape the person you become and the relationships you have with the rest of the world.

Rightly or wrongly, I have encouraged M to embrace his EGID diagnosis and become an advocate for himself and others living with it. M is, without a doubt, so much more than this disease and yet it is an integral part of the young man he is growing up to be. Our local gastro team are keen that M doesn’t view himself as a “sick kid”, that he doesn’t let his diagnosis stop him doing whatever he wants to do or being what he wants to be and those aims sit well with our approach to helping him cope with it all. However, I can’t and won’t agree to ignoring the reality of his life – the numerous hospital appointments, admissions and procedures; the daily medicines; the restricted diet and 12 months with a NG-tube mean that he is not like his friends, like other kids his age. In the last year alone, M has been seen at our local hospital over a dozen times and that does not make him the same as the rest of his classmates. Despite everyone’s best efforts, 2 and a half years after that first feeding tube was placed, M still only eats 6 safe foods on a regular basis and that makes him stand out from the crowd, not just at school, but at every activity or event he attends. He is, in all truth, a “sick kid”, but that label does not sum up who he is as an individual.

No matter what the medics suggest, I can’t pretend that all those experiences didn’t happen to him, to us as a family, but I will endeavour to make sure that M’s illness is not all that defines him.

Yes, he’s a child who cannot eat the same as his friends; but he can eat out and enjoy food with them.

Yes, he’s a child who lives with constant pain; but he has learned to ignore it and overcome it and achieve despite it.

Yes, he’s a child who spends too much time in hospital at medical appointments; but he is developing a confidence to question and understand and advocate for himself.

Yes, he’s had experiences that most adults I know would struggle with; but he has developed tremendous courage and an increasing self-worth in who he is as an individual.

The truth is that, just as my 30+ years with T1D has shaped the woman I’ve grown up to be, M’s life has been, and will continue to be, affected by his EGID diagnosis. We cannot pretend that the difficult times haven’t happened, we can’t airbrush them out of our family history and it would be doing a disservice to the fortitude and bravery of both my children if we tried to do so. They are so much more than the sum of their parts and whilst EGID has an unquestionable influence on the individuals G and M are becoming, it absolutely does not define either of them in their entirety, and nor will we ever let it.

This year we have decided to continue our support of the amazing charity, Over The Wall and their camps. If you’re able to donate even a very small amount, please follow this link to my Virgin Money Giving Page where your donation will help more children living with chronic illness like G and M by giving them and their families a chance to enjoy some much-needed time away from it all.

From all angles

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The last few months have been busy ones in all areas of our life, which I haven’t been shy in talking about, but the one aspect that I haven’t mentioned for quite some time is where we are health-wise with M’s EGID. You could view the reason for the radio silence as a good one – we haven’t really been making any significant progress and everyday continues to be a battle to see if we can reach and maintain some semblance of status quo for a decent length of time. I’ll be honest, since March things have been quite challenging as we have had little medical support and we have felt, at times, as if we’ve been cut loose and are paddling desperately to make some headway by ourselves. The reason for the missing input is that we are in the process of trying to build a shared care relationship between GOSH and our local hospital once again and at long last do appear to be making some progress, albeit very slowly. We last saw M’s GOSH consultant in the middle of March, when it was somewhat reluctantly agreed by us that we would wait until November for his next GOSH appointment with the plan being that we would meet and then have an appointment with our local gastro team during the interim period.

It may well come as something of a surprise that we are even considering transferring some of M’s gastro care back to our local given the numerous problems we’ve had in the past, but this time we were encouraged by the fact that his new gastro consultant is a registrar that we got to know whilst at GOSH and someone we trust implicitly when it comes to M and his health. Dr W, who has invited us and M to be on a first-name basis with him, was instrumental in getting M admitted 2 years ago when we made the decision to move to elemental feeding and so is someone who knows something of M’s background and understands where we, as his parents, stand when it comes to treating this disease. We are also keen to gain some local support for M because, when crisis hits, it is very difficult to get any immediate care from GOSH due to the distance we live from the hospital and the inability to just pop along there for them to review his current state of health. There is a standing agreement that we can phone and discuss him with any one of his consultant’s team, but sometimes that isn’t enough to resolve the issue as quickly as we all need. Dr W had already agreed with GOSH that he was happy to meet with us and look at the potential possibility of taking over some of M’s care during last year’s disastrous admission and he understands that there is a trust issue between us and our local hospital that he and his team will need to work hard to re-establish – something that is so critical to M’s well-being.

With a little prodding, it didn’t take too long for Dr W to give me a call and then for an initial appointment to arrive on our doormat and Mike, M and I met with them in the middle of June. At this point, M’s broken leg had unleashed an unexpected level of havoc on his body and we were struggling to manage the ever-fluctuating bowel issues as well as his increasing reluctance to drink the E028 and huge disappointment that we couldn’t undertake any food trials whilst he was so unstable. The team was great, but it really was just a conversation about what we were looking for and what they felt they could do for us. A few interesting insights and suggestions about M’s diagnosis were thrown out, but there was no opportunity to ask questions about them and now, 3 months on, our reflections have left us wondering about what the next steps will be. What didn’t come as a surprise was the question mark over whether M is truly suffering from so many genuine food allergies or rather if there is an underlying problem with his gut and/or bowels which means that he is unable to tolerate so many foods at the moment. This has been a question that has been stumping his GOSH dietician too, who has freely admitted to finding M one of her most challenging patients ever and is hoping our local will provide a fresh pair of eyes when it comes to considering how best to treat him. Dr W also expressed a concern that M would eventually stop drinking the E028 altogether and stressed that we need to find a viable alternative before we reach that point. This has proved to be remarkably insightful as it is now one of the biggest issues that we have had to contend with since that June appointment, with M struggling to drink even half of the required amount and with no new foods in his diet, there are growing concerns about both his weight and his nutritional intake.

Just before our Portuguese holiday, I contacted our GOSH dietician to discuss with her the lack of progress we’ve been making with M and asking for her input as to what we should do next. The email reply I had came as something of a concern as she explained she was under the impression that all care had been moved to our local hospital and she was surprised that I was looking to have a further conversation with her. I fired off a considered response, copying in both the GOSH and local consultants, advising that whilst we had met with the local gastro team in June, we had heard absolutely nothing since and really needed some medical advice once September started, although somewhat ironically we have had our next GOSH appointment booked – September 2017! Thankfully the strong relationship we have built up with this dietician since M first went to GOSH 5 years ago meant that S was happy to step in and gave me a call just a few days into September. She was as concerned as I was about the lack of medical care being given to M at the moment and during that lengthy phone conversation, worked with me to put a plan into place for food trials over the next 4-6 weeks. She also offered to chase both Dr W and our GOSH consultant to find out what was happening regarding the transfer of M’s care and try and speed up the process to ensure that M is seen before November if at all possible. I’m not quite sure what strings she pulled, but within a week of speaking to S, Mike received a phone-call from Dr W to tell him that a plan had been agreed between the two hospitals and an appointment would soon be forthcoming. Delighted to hear that a plan would soon be put in place, Mike asked whether we could be privy to the discussion they had had, so that we too were on board with whatever next steps they were expecting to make. Another lengthy conversation later and at long last, we finally had some idea of how M’s care will be handled until the end of the year at least.

The most critical aspect of looking after M right now is that no-one really understands what is going on with his body, his bowels and gut in particular, and there doesn’t appear to be any logical explanation why we seem to be stuck at just 5 safe foods. Add to that the added complications of the massive downturn in his health that happened as a result of his broken leg and the resulting failure to find ourselves in as good a position as we were a year ago, the medics all agree that they are more than a little stumped. So, rather than rush into more tests or a radically changed approach to his treatment, our local gastro team have booked monthly appointments for the next 3 months, where they will be assessing and observing him without getting too involved in the medical decisions. Obviously any problems that we do encounter during that time will be addressed, they won’t leave M to suffer unnecessarily, but they are leaving us to work with GOSH in terms of his food challenges and medicine tweaks. They have also recognised the need for psychological support, not just for M, but for the whole family and are proposing that we start with weekly appointments, split into fortnightly appointments for M and the alternate weeks for Mike and me. We have long argued that the diagnosis of his EGID has a huge psychological and emotional impact on M and have frequently seen the outpouring of that in the home environment. The added stress of his SATs this year is already showing at both home and at school and so I am hopeful that with these regular sessions in place and the support of us and his teacher, we will ensure he makes his way through Year 6 relatively unscathed. With this kind of all-encompassing care in place and the availability of local support for any admissions or longer term treatment changes that might be needed, the strain on the family will hopefully be reduced a little too, although it will obviously never fully disappear. We don’t know what the future holds for M and that is the most daunting thing we have to face as a family. What is encouraging is that there is already an open dialogue between some of the many people involved in M’s day-to-day care and our hope is that can only prove to be the best thing for him.

The impact of mental health

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In a world that is frighteningly open as people regularly share their location, activities and even the contents of their lunch box via social media, there is still a huge reluctance to linger on anything that hints at emotional instability or mental distress; but the sad truth is that matters of mental health are a huge part of living with a chronic illness and not just for the individual concerned. Today is World Mental Health Day, a day that is seeking to raise awareness of mental health conditions in an open and honest way, to encourage individuals to understand more about how these problems can affect just about anyone at one time or another in their lives and how others can support them. There is a tendency to make light of the language used when referring to mental health issues, after all, how many times have we heard someone say that they’re feeling depressed about having to go back to work after a holiday or the break-up of a particular pop group, when what they really mean is that such events have saddened or upset them rather than the total immobilisation that comes when you struggle with depression on a daily basis. I am not devaluing the emotions they may be experiencing when those things happen, but are they really akin to the overwhelming nature of depression? I think not.

I don’t speak lightly as I have been dealing with the constant presence of recurring depression since my teenage years. I know what that “black dog” is like and just how much it can impact on your ability to function on a day-to-day basis in the real world. As a teenager living with T1D, I struggled with accepting that this was a reality that was never going to change for me, that the need for regular injections, sensible eating and facing the risk of serious complications was never going to disappear. I didn’t handle it well. Though few of my peers may have realised it at the time, I refused to do what I needed to do to maintain my health, not because I wanted to cause myself problems, but because I couldn’t see a way to live like my friends and not feel isolated by my T1D diagnosis. I know that I was not alone in my reaction to my chronic illness and my family and I owe a great deal to my fantastic consultant who worked hard to help minimise what often felt like insurmountable differences as I went through those troubled years. With time and support, I did eventually come to terms with my diagnosis, though sadly my determination to get my T1D control back on an even keel brought with it an unexpected complication with my eyes, which in turn has led to even more serious implications than I could ever have imagined when I was 13 and feeling very much on my own in a battle against the rest of the outside world.

Move forward a few years and I found myself back in the mental health fight when I was diagnosed with post-natal depression following the difficult pregnancy and early arrival of M. This time I was more open to receiving help and my diagnosis, when it came, proved a huge relief as I didn’t have to actively speak out and ask for that support. Having struggled with counselling as a sole answer to my depression as a teenager, I readily accepted the suggestion from my GP that I be prescribed with low-level anti-depressants for the first few months and am not ashamed to say that those helped me through some very dark times indeed. Anti-depressants are not for everyone, just as much as counselling hasn’t always proved to be a success for me. There should be no stigma attached to needing that medicine to survive the battering of a mental health problem. It is a necessity for some, just as insulin keeps me alive or a feeding tube and elemental feed proved to be what M needed to help him regain better health.

I have learned over the years to identify when I start to feel a little low and my ability to cope with the everyday becomes more of a strain. Mike and my Mum have developed their own sixth sense to pick up when I am beginning to struggle and offer me their unfailing support as I try to find my way back out of the pit. Our 7 year journey to get an initial diagnosis for M and the ongoing challenges in keeping him fit and well have taken their toll and there have been times when tempers are frayed and relationships fractured because of it. That strong support network of family and friends who are constantly surrounding me is invaluable and the knowledge of what is really important – M and G – keeps me getting out from under the duvet every morning and making my way through each day.

Even more importantly, my own experiences with chronic illness mean that I am well-tuned to the impact that his own diagnosis will have on M. It is a frightening reality to face that your own child might end up fighting the same demons that you did at that age, but it also gives me an insight that lends a level of trust and understanding between M and me that is unlike the relationship he has with anyone else. I can fully empathise when life seems unfair and unjust and he can allow his emotions to pour out because he believes that I get it. We have long been arguing for psychological support for M and finally, thanks to a developing shared care relationship with our local hospital, that seems to be being put in place. Our new gastro consultant has fully acknowledged that the EGID diagnosis will have not only shaped the person M has become, but also had an effect on G and on our family dynamics. He wants to adopt a holistic approach to treating M and the next few weeks will tell if that is a solution that will make a significant difference going forward. I know that recognising the signs of mental stress now are really important when it comes to M’s ongoing mental health, especially as there can be no denying that he already struggles with mood swings, anxiety and feelings of isolation, not just due to his EGID, but also because of his dyslexia and dyspraxia. Early recognition of those symptoms will help us and the medical professionals find a way to put into place coping mechanisms that will serve him, not just now, but into his adulthood too. He already has a good cohort of friends surrounding and looking for him, but they are young, only 10 years old. Just as with any other child as they grow up, he will learn to distinguish those who will stand by him through thick and thin and those who are just there for the fun times. Most importantly to me, is that he doesn’t feel ashamed or embarrassed by the times when he’s not able to cope emotionally, or mentally, or even physically with the pressures that his diagnoses will have on his life, and that he learns to openly acknowledge them; and that he realises that he’s not on his own in that regard.

Likewise, we can’t ignore the reality that having a chronically ill sibling has a massive impact on G and her mental health too. The Young Carers meetings that she has attended over the last few months have covered the areas of anxiety, facing fears and anger management, which are all inextricably tied up with the role of being a young person caring for another. Those sessions have taught her strategies for dealing with her yo-yoing emotions and provide an outlet for them in a safe and understanding environment. She has made stress balls and relaxation jars to bring home and use as she needs. I hope that the proposed psychology appointments at our local will not only look to support M, but also to help G in her own right as well as us as a family. These are all things you don’t want to even consider that your children might ever need to deal with, but there is no escaping the reality of chronic illness and mental health, and we need to accept our responsibility to help them both. That is the key message of today’s World Mental Health Day – that we all have a role to play in supporting those around us as best we possibly can.

Rice Two-Ways

Lost in Translation

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As Mum to a child with additional health needs, you have to be prepared the minute you venture outside your front door. You don’t just carry with you the medicines, equipment and food items you need to get you through the next few hours relatively unscathed, but also the necessary mental strength to explain your child’s needs to everyone you encounter and ensure that your trip outside of the safe bubble at home goes as smoothly as it possibly can. There are, of course, times when an essential gets left on the kitchen counter and you have to think on your feet and find a solution that will work until you get back home, and, for us, there have been times when, despite the clear explanations given and the seeming comprehension of the waiting staff, mistakes have been made and the children have suffered the consequences of those misunderstandings.

When you add travelling abroad to the mix, those unavoidable stresses become even more intense and, as an allergy Mum, I can tell you that worries about safe food are right at the top of the list. As you may remember, last year we decided to stay in the UK during that first holiday season with a tube in place and had the most amazing week in Cornwall, where we discovered hidden treasures of restaurants and sight-seeing spots that we are still talking about nearly 12 months on. However, we decided that this year we would venture back to a favourite haunt and visit the Algarve in Portugal, with a few extra days in Lisbon tacked on to the start of our trip. We know the resort of Alvor extremely well, but this will be the first time of visiting with such a restricted diet and I have to confess that nerves have been a little greater as we plan our 10-day stay away from home.

One thing I learned early on in our holiday planning with M was to talk to our airline about taking an extra case filled with whatever medicines or foods we will need whilst we’re away and have had superb experiences with both Easyjet to Portugal and Virgin Atlantic to Florida. These conversations paved the way for our long-haul flight to the USA and we found that both the airport lounge and the airline were able to provide safe meals for M when we gave them a little advance warning, but what happens once we’ve landed abroad, especially in a country where we don’t speak a word of the native language? Our back-up plan is our self-catering apartment, which means that there is always somewhere to prepare a simple meal of M’s safe foods without too much trouble, but I do, perhaps selfishly, want a holiday from that daily grind of cooking and be able to enjoy a family meal as we used to do when the children were small. Our previous holidays to Portugal were challenging, but not impossible as M loves fish and seafood which are always readily available, but I worried that the current restrictions might be a demand too far.

Fortunately, there are answers to the anxiety about communicating food allergy requirements in a foreign language and whilst it took a little more effort than originally planned, I got our perfect solution in the end. I started by calling Allergy UK, who offer a fantastic service of providing translation cards which “…feature an allergy alert message, an emergency message and a message for use in restaurants to ensure that your food order is free from the particular allergen that causes your reaction…” and can be ordered in any one of 36 languages to cover 70 different allergens. However, I really wanted a bespoke message detailing M’s current safe foods and unfortunately Allergy UK was not able to tailor their cards accordingly, but they did point me in the direction of the amazing Yellow Cross, a company I had never even heard about until recently.

Thanks to a detailed e-mail conversation with Yellow Cross Director, Jane Harrison, she agreed that it would make far more sense to detail what M can eat, rather than a lengthy list of his many allergens and suggested she spoke to their translator to cost out these personalised cards. We settled on appropriate wording, it was passed to their Portuguese translator and I was quoted a very reasonable £20 for a set of 4 eating out translation cards. I confirmed that we wanted the cards, made payment and in less than a week, the finished credit card-sized cards dropped through our letter box. The cards are printed on card and then carefully laminated to extend their life, and I couldn’t be happier with the finished product. They clearly state the wording I had discussed and agreed with Jane and their service was absolutely faultless. I found Yellow Cross willing to help us with our request and I’m certain that the inclusion of these cards in our travel survival pack will ensure that our Portuguese holiday goes with a swing.

Lasagne – an unusual last supper!

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I’ve been fascinated looking back over the last 4 awareness weeks and seeing how our approach to “Eating like M” has developed over time. When we first started in 2013, we chose to eat the foods that M could eat at the time, even if they were things he wouldn’t have touched with the proverbial barge pole such as mushrooms, tomatoes or courgettes and followed the lead of other EGID families by eating exactly the same as him on the Friday, including the much-dreaded Neocate Active. Year 2 followed a similar approach, though Mike matched M mouthful for mouthful on the Friday to truly understand what it felt like to be on his diet and again drank the obligatory pint of Neocate for full effect. By 2015, M’s diet had changed dramatically and when we hit NEAW15, he had only 3 safe foods he could eat. Despite initially rejecting the idea of eating like M, Mike and I decided we would once again support him through what was proving to be an extremely challenging time and agreed to spend the week with just 3 foods making up our 3 meals with a litre of E028 to wash it all down for Mike.

2016 has taken us another step forward in our “Eating like M” adventures and this year saw G choosing to stand in solidarity with her brother and join in our week with just 5 safe foods. I am so proud that she decided to take part in this challenge with us and stoically managed the week without complaint. Once again, our week led to opportunities to share our family’s EGID story with others, including Mike’s discussions with fellow attendees at a fully catered RICS training course in London. He had expected the standard buffet lunch to be provided and had armed himself with rice-cakes and apples to get him through his day, so the hot meal that was prepared on request to meet these strict dietary requirements was a more than pleasant surprise.

One of the highlights of the week for me was our final meal on the Saturday night. I had been looking for the perfect opportunity to try out what was, to me, a completely new product and our last M-inspired dinner gave me that chance. I first heard about this product back in February at the #FFFA16, when fellow judge, Stanley Montwedi, founder of online shopping website FreeFromMarket recommended it to me and couldn’t stop raving about how amazing it was. With NEAW16 in mind, I had ordered a couple of boxes from him and knew exactly what masterpiece I’d be whipping up next.

As a family we have always enjoyed eating pasta, but M’s food restrictions have made enjoying a variety of different pasta dishes almost impossible. Thanks to this new-to-me range of products, that is no longer the case. Rizopia Organic Brown Rice Lasagne was actually the winner of the 2015 Free From Food Awards Pasta & Pizza category and I must say that it was definitely a worthy winner. I used it to make a M-friendly chicken lasagne, layering strips of chicken with the pasta sheets and lashings of white sauce flavoured with basil and oregano. I didn’t pre-soak the sheets as per the cooking instructions, but given the limited sauce that could be added to my lasagne, we all found them quite chewy, so I think I will try soaking them beforehand the next time I cook it. And believe me, there will be a next time because the whole family was impressed with this dish. M enjoyed it so much that he asked for it for lunch and dinner 3 days in a row and was most disappointed to discover that it did eventually run out! The Rizopia rice pasta range includes lots of different shapes of pasta which are all safe for M and will add some much-needed variety to his meal-times.

NEAW 2016 – All over for another year

Why we should value our NHS

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If you live in the UK, you can’t help but be aware of the current problems faced by the NHS. The continuing debate over contracts for junior doctors has led to 4 strikes in the last 4 months, though the discussion has been raging for much longer, and there are more strikes on the cards if the issues can’t be resolved. Theses issues have been well-documented in the national press and I’ve no doubt that those of us who depend on a very regular basis on the healthcare provided by the NHS have our own opinions about these strikes, especially if we know, or indeed are, one of the 25,000 cancelled operations that have resulted from their action. Whatever your thoughts about these strikes – and believe me when I say that I’ve heard a huge cross-section of opinions from friends and acquaintances – it is impossible to ignore the underlying truth that the NHS is struggling and its future doesn’t necessarily look all that rosy.

Over the last 5 years, our experiences of the NHS have ranged from the outstandingly good to the outrageously awful. We continue to have a very reluctant relationship with our local hospital, who has unquestionably failed M at almost every step of the way and it is only our belief that local support and care is tantamount to his continued health and well-being as well as our peace of mind that has kept us in the battle for a shared care relationship between our local and GOSH. Likewise, whilst we are extremely grateful to M’s GOSH consultant and dietician, who not only gave us that elusive diagnosis 3 years ago, but who continue to advise, support and care for him with the honesty that we requested, the disastrous outcomes of our last admission have tested that “doctor – patient’s parent” relationship to its limits. We have accepted that they don’t have all the answers, nor access to that much longed-for magic wand, but we will keep going back because we have absolute confidence that M’s medical team, at least, will carry on striving to do their best for our medically complex challenge of a child.

Yet, despite all the lows, the high points mean that I can see there is something truly wonderful to be valued about our NHS. I see it in the regular phone-conversations that happen between M’s dietician and me, so that she can keep an eye on what’s going on from a food point of view and monitor how well he’s managing with drinking his E028 now that the NG-tube is gone. I see it when she takes her concerns to M’s consultant and talks them through and agrees a way forward, so that we don’t have to wait months for our next trek to London for an appointment before we act on the problems we’re experiencing now. I saw it in the care given to both M and me during his admission, when the nurses made sure that his best interests were met as far as possible and offered cups of tea when they were otherwise powerless to help. I saw it in the frankness awarded to Mike and I during the December debacle, when we asked for an honest opinion about his future health and what we could expect; and it was given.

And I see it at the local level that for most of us is our main contact with the NHS. Not the senior consultants, junior doctors and hospital staff dealing with the chronically ill, but through the GPs surgeries and the doctors, nurses and other staff that work there. I know that we are incredibly lucky with the local medical centre that’s found in our small village and for as long as we have been a part of it, they have gone above and beyond so many times to make things easier and get answers and help whenever we’ve needed it. Recently, I hit an unexpected stumbling block in ordering the E028 formula needed to keep M going, one that had been caused by a lack of communication between the feeding team at our local hospital and just about everyone else. A feeding team nurse had contacted GOSH to confirm whether M still needed regular tube changes and, on being told that he no longer had his tube, she cancelled the monthly orders with the feeding company. Nothing wrong there you may think and I’d agree, except she didn’t advise us that she’d cancelled it, nor did she tell our GP that it was now their responsibility to sort out his monthly prescriptions.

Thanks to past experience and my somewhat controlling approach to always having a supply of E028 in the house, I started chasing about when we could expect our next delivery whilst there was still a good amount of stock in my dining room and spent the next 40 minutes being pushed from pillar to post as I tried to track down who I needed to speak to and unpick exactly what had happened. When I finally established what I had to do, it was my wonderful GP’s surgery that I turned to and their fantastically competent staff. With the help of 1 receptionist, 1 member of office staff and the invaluable pharmacist, we eventually got M’s prescription sorted and marked as an ongoing monthly medication. They phoned, researched, ploughed through reams of medical notes and faxed until it was all sorted – and all with the attitude that they wanted to help, were willing to help and were happy to help, and a ready smile that reassured me I wasn’t being too much of a problem in their already busy day.

That is caring for the patient at its absolute best and that’s why we should value our NHS; for all those staff who get little thanks but make a big difference – or certainly did for this harassed Mum!

What makes them rare

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February 29th: a special day, an unusual day, a day so rare that it only comes round once every 4 years and, quite frankly, the perfect day to mark Rare Disease Day 2016. This is the opportunity to raise awareness of rare diseases and the impact they have on the people living with them, not just with the general public, but amongst medical professionals and policy-makers too. It initially launched as a European event in 2008 and is now marked in over 80 countries worldwide.

What is meant by a rare disease? Definitions of “rare” do differ from country to country, but across Europe a disease is considered rare when fewer than 1 in 2,000 people is diagnosed with it. The threshold in the USA is defined as when fewer than 200,000 Americans are diagnosed with that illness at any given time.

How many rare diseases are there? 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.

Who is affected? 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.

Why raise awareness? 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.

What does Rare Disease Day mean to us?

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 – but nonetheless, having to live with the reality of this rare disease and its effects on your family’s life on a daily basis.

(For those who wonder if EGID is real, try living with anyone who is in the midst of an EGID flare up and, bigger picture or not, you’ll understand why we will continue to fight for research into this unquestionably chronic and life-impacting illness.)

Imagine the heartbreak of holding your sobbing child at 3am, with tears streaming down your own face, as you struggle to find some, any words to bring him a little comfort.

Imagine taking one food after another out of his diet in a hope to bring some relief from the chronic pain and poor bowel function, until you are left with the final realisation that perhaps you need to remove everything and feed him via a tube to see if that is the answer you’ve been seeking for the first 9 years of his life.

And then imagine starting to put foods back in, one at a time, only to discover that his body has allergic reactions to more than you ever thought possible.

Does this sound familiar to you?

This is the reality of the last 3 years of our life with a rare disease as the truth of EGID is that symptoms are complex, understanding is limited and medical research funding scarce. M’s diagnosis with EC makes him rare, so please help raise awareness today, not just about EGID, but of other rare diseases and those living with them too.

7 years to diagnosis

Searching for an answer

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