My name is Amber and I’m twenty-four years old.  I have a story to tell that I hope might help to save thousand of lives in the future.  My fiancé and I were very very close. We saw each other every moment of every day that we were able to.  He was extremely healthy, full of life and a young man with the biggest heart.  We were so very much in love and we were due to get married on February 28th, 2009.  On Saturday February 14th, Valentines Day night, our world was about to be turned upside down with no warning at all.  I woke up to him throwing up that Saturday night about midnight and he constantly threw up all night into Sunday afternoon.  We just thought it was something he ate or a little virus that he caught.  He hadn’t thrown up in a while but was complaining about bad stomach pain so I tried to get some food and Gatorade back into his body because I have had the same feelings before and it was nothing.  That Sunday night around 8:00 P.M, my fiancé got up  , walked over to the kitchen and fell over the trash can, started stuttering and was pacing very confused and disoriented.  I knew at that point that something was seriously wrong so I called 911.  The paramedics arrived very quickly, which I am grateful for all of them that help save lives.  They showed up and by his symptoms were very much convinced that it was a drug overdose problem.  I tried to tell them that it was not the case at all and that we don’t have anything like that in our house, but they were still very much convinced.  I wasn’t mad at them because I can only imagine what type of people they see and deal with on the job and I know that they are only trained for certain symptoms.  Anyways, when we arrived at the ER, he had a fever of 104 and a heart rate of 190 and they were still convinced that it was a drug overdose and again I tried to tell them no and that he hasn’t had any food or liquid in him since Saturday night because he kept throwing it up.

They didn’t want to do anything until the drug test results came back.  The results came back negative and once they stabilized him, they sent him to ICU not knowing why this young man was so sick.  In ICU they did spinal taps, MRI, CT Scan, EEG, liver, kidney, lungs, every kind of test known to man and all of it came back normal.  They said he was very healthy but they are baffled on why he was so sick.  After a few days in ICU and even repeating tests to see if they missed anything, they came out and said that they found out that his ammonia level was high but they didn’t know why.  Within 2 hours it sky rocketed from being 200 to 400 and it was life threatening.  We prayed and hoped that the dialysis would bring it down and it did and they put nitrogen scavengers to attack the ammonia if it starts to come back.  Everything was great until the next day they did another CT scan and called his father and I into the room and told us the most horrific news I will probably  ever hear in my entire life.  They said when his ammonia levels went way up, it had stopped the blood to his brain and he was brain dead.  I wasn’t really sure what brain dead was and I thought he would be paralyzed or have to learn to walk, eat, etc, all over again.  I told them it’s ok and that I love him more than anything and I will take him home and take care of him no matter what it takes.  The doctor started to cry and looked at me and said, “Honey, it means that the blood flowing to his brain has stopped and that he is going to die.”

That was on February 19, 2009, a week before we were going to start a new part of our lives together.  I’m not sure if the paramedics or the ER doctors would of changed anything if they tested for anything else while they were waiting for the drug results to come back, but I just wanted to make everyone aware to maybe help save the lives of others, so they won’t have to go through what I went through.  I know that you are tr  ained on certain things, but I wanted to make you aware of high ammonia levels and the symptoms it causes can often be confused with drug overdose symptoms.  My fiancé had the top doctors from Neurology, Toxicology, Disease Control, etc. at Good Samaritan hospital and they still to this day are doing research as to what happened to him but they did come up with a genetic metabolic error of the urea cycle.  The main reason I am making you aware of this is because after doing hours and hours of research and talking to doctors and geneticists, there are several metabolic error disorders that cause a person to have the same symptoms of overdosing on drugs.  I hope my letter will further educate you on certain signs to look for because thousands of lives could be at stake.  If you would like to speak with me more or refer someone who is going through or went through the same thing and their loved one died with the same symptoms but wasn’t given an explanation or just thought it was a bad case of the flu or viral illness, I would really, really like to help.  My contact information is below. Thank you for all that you do and for all the lives you save everyday.  You are always in my thoughts and prayers.

Every couple of months I go to my gp’s clinic where I have a blood test which is sent to a laboratory where it is tested to see the levels of phenylalanine in my blood. This makes it harder to cheat and have things I’m not allowed as it will show up here. Twice a year I see my doctor and my dietician together. We discuss things like my general health and whether I have any problems. My height, weight, and blood pressure are also measured and we discuss my progress. I really enjoy these meetings as they make me feel like I’m in charge of my own diet instead of my mum doing everything for me.

PKU doesn’t stop me doing things I like, I have been on several holidays, both with my family, and with my school. I take my own food and have no difficulty finding something I can eat and enjoy. Most places where I have stayed have been very helpful when I explain my problem.

I used to get picked on by other children for my condition and had to sit by the teachers at lunch so they could keep an eye on what I was having, this made the other kids think I was a teachers pet who wanted to sit with the teachers all the time. AS IF!!! Also when I was younger, there was a time when I wasn’t invited to a friends birthday party. This was because her mum didn’t fully understand my condition and didn’t want to invite me and end up giving me the wrong thing. Eventually my mother went into school and gave a talk on my condition and its effects where the other parents were invited to come along and listen. Since then I’ve actually made more friends because they know I’m not a teachers pet and just want to be treated like everyone else. When a new girl started at our school who is diabetic, I was the first to make friends with her.

One thing I must always look out for is changes in products, especially drinks. This is because manufacturers are always changing the ingredients, adding some or taking them away. This means they can end up on what I call the “red list”.

I do meet other children with PKU. There are special events organized by the NSPKU where can all get together and just have a good time. I find it exciting meeting others with my problems. It makes me feel like there is so much out there I can do, especially when I meet adults with PKU who have families and jobs and don’t let this one thing hold them back, especially as I will have this condition for ever.

PKU has not stopped me having a normal life. Although at times it is a bit inconvenient, I can still enjoy normal activities and my food, within the limitations of my diet.

It was, like last year, a tremendous success with the right mix of fun and education. Some of the highlights included the quiz on Friday night, the Cookery School on Saturday afternoon, Dr. Monivari’s talk on future developments in the treatment of Metabolic disorders, David Coleman’s talk on Sunday (he of RTE fame) advising parents on how to work with their children on lifestyle adjustment, and the Grand National sweepstake which ran on Saturday, including a number of presentations from dietitians and patients on management of PKU and all inborn Metabolic Disorders.

We will be announcing the date for next year’s event in the coming weeks and we hope next years event will be even bigger and better, roll on Low Protein Living Weekend 2010.

The survey is concerned with newborn screening that is undertaken in the first 5-8 days of a baby’s life (the ‘heel prick’ test).  From the blood sample taken it is possible to recognise some disorders early in a baby’s life which if left untreated would cause serious health problems. As part of a research project it is proposed to extend screening to test for additional inherited metabolic diseases.

The survey is open to anyone but we are especially interested in the unique views of parents of children affected by inherited metabolic conditions.

We are interested in your views on how information is given about this testing and how it could be improved. This is not a test and there are no right or wrong answers!

Once you have completed the survey you will be given the opportunity to enter into a free prize draw for £100 worth of vouchers! It should take about 20 minutes of your time.

The link to the online survey is:

http://www.surveymonkey.com/s.aspx?sm=_2byOu2FjRu9kbR_2fgN8AssKA_3d_3d

If you have any queries about this research please email Louise Moody (L.Moody@coventry.ac.uk).

As a kid, I was eating mainly carbs and fats and lots of fruit, but very small amounts. I was a tearaway with ADHD so I was burning through energy like no tomorrow. As a result, I was a pretty lean kid and my dieticians expressed concern that while I was a tall child, I was pretty light.

As a result, I was put given Calogen supplements which I took in the form of a milkshake with a beautiful zero-protein fruit ice cream called Nectacream. While the Calogen suppliments had their desired effect (I went from a lean skinny lanky kid to a reasonably solid and well-padded youngster) the company that made Nectacream folded, and that was the end of that. It saddens me that Nectacream doesn’t exist today – I’m sure it would have made a killing as a PKU ice-cream if it had gotten the global exp

osure the internet may have been able to afford it. Rest in cold, creamy peace, my long-lost friend.

Anyway, I was around 73 kilos going into college and struggling with my diet. I was taking my Aminogran supplement less and less because the morning doses made my breath smell horrible and I quickly spun out of the habit. In a bid to teach me some responsibility, my mother made me make it for myself. It backfired and I just stopped.

So I went off diet for a while – approximately five years. During that time I found college extremely difficult, and my life was somewhat turbulent. Needless to say, I made it through college and into university. My first year was typical – wild parties, lots of alcohol and lots of bar food – I developed a ‘healthy’ taste for garlic bread and fries, and spent many a sunny afternoon with my textbooks, beer and snack food. After a fun season during my final year of college, I went back to rugby and played in an Under 85 kilo weight grade. Due to my lifestyle and my regular dinner (pork crackling + mash potato + oven fries) I put on a lot of weight, and soon found myself weighing out of my games. After some problems with my then on-again off-again girlfriend and being forced to watch most of my team’s game from the sideline, I became pretty down. The fact I was not getting anywhere near what my body needed in terms of nutrition was no doubt a contributing factor.

Things culminated when a series of high blood test levels and my regular appointment at our national metabolic clinic saw me faced with the very real possibility that I was doing myself serious damage, and my B12 levels were a cause for concern. I knew I had to take my Amingran more seriously, but I could not get myself into the habit of making it. Thankfully, I was introduced to Easiphen, which our national pharmalogical body was contemplating funding.

In the four years that have followed, I have gone from being disorganised, irresponsible, clueless, incapable and dangerously incompetent with my diet to having a really good handle on it. My extra weight, which was putting me at risk of a series of other problems such as high cholesterol and diabetes is now firmly under control. I have regained a svelter figure through an aggressive low-cal diet with rigid Easiphen intake and have re-registered for the Under 85 team I had to effectively walk away from in 2005. I’ve gone from 103 kilos to around 81kgs, and there’s more to come off. I’m also trying to build some muscle mass, although the low protein diet is proving to be a bit of a stumbling block in this regard. If anyone knows of any good suppliments for this purpose, please message me! I love to cook and while I am getting very good at making breads and pizzas, I also enjoy some treats like popcorn in grapeseed oil (absolutely beautiful!).

I’m proud to have PKU. It’s no longer a stumbling bloc, it’s something that I know know a lot about and have read many things on. Understanding my condition has helped me take care of myself and given me something to be proud of.

I’m sorry for how long this is, but there is a silver lining to going back on the diet. If you’re on it now as a teen, for the love of all things awesome, stay on it! Learn to cook for yourself using things like LoProfin and discover the small wonderful things about your condition that other people don’t get to experience. Most other people will rarely smell bread fresh out of an oven – PKU lets you do that all the time! You can also make scones, pizzas and all sorts of wonderful goodies with relative impunity! I love the taste of my baking, I look forward to mucking around with recipes and it’s pretty much the most rewarding skill I’ve ever learned. And there’s nothing wrong with learning to cook – I’m a 22 year old rugby-playing New Zealand university student, and I consider myself to be every bit as rugged and articulate as the next Tom, Dick and Harry.

While I was lucky to have a seemingly mild case of PKU and to not have done too much damage during my more care-free years, I can assure you that life with PKU is far more enlightening and interesting – and ultimately more rewarding – if you have tale the time to understand the science behind your condition, how it works, what you can eat and how it can affect how you live your life.

Best Wishes

Dan

James doesn’t have food allergies, though. He suffers from PKU, which drastically limits his diet for the rest of his life. PKU means James’ body can’t metabolize phenylalanine, one of the building blocks of protein.

A highly restricted diet keeps him healthy and experts hope dramatic improvements in treatments could become a reality in his lifetime.

James loves football and bowling. He has the trophies and medals to prove it. In practically all respects, he’s a healthy, happy little boy. His strength is an inspiration to me and I’m his mum!!

His favorite food is burgers and chips and nuggets, special meatless versions of course. In all his six years, James has never eaten meat. And every bite of food he eats is extremely low in protein. Every bite is carefully weighed and measured.

I am very stringent, I know I am but you don’t cheat; you really have to stick to the diet every day to maintain his blood levels and healthy functioning all around.

Many of his friends think he has food allergies. Many ask why he needs to weigh everything he eats.

He tells them we weigh them because he’s on a special diet called PKU. ‘What’s PKU?’” is the standard response to this.

Unchecked, PKU could cause severe mental retardation and seizures. A special formula provides all the protein he needs without the one he doesn’t. Of course, this is a bit hard for a six-year-old to explain to other kids!!

There are always events and fundraising functions for people like James, so please get involved if you get the chance and who knows what the future holds!

James isn’t too concerned about the future though. He’s content with the present.

Gathering the group together in one place not only gave us a chance to demonstrate some great ideas on cooking for a low protein diet, but also gave the HCPs a chance to interact with each other, work together and share their thoughts in a relaxed, fun environment.

Mona Taylor, a professional home economist who has a lot of experience in this specialised area led the day along with Julia Chalkley, a professional chef. This wasn’t just a ‘watch and learn’ day. After each recipe demonstration, the attendees were sent away to their own workstations to ‘give it a go’ themselves. As the aim of this day was for the HCPs to take these tips back to their own clinics, it was vital for them to be comfortable with doing these recipes with their patients without the support of our cooking experts.

The day concentrated on simple recipe ideas such as preparing pasta, but also gave great tips and advice on baking breads and tartlets. As baking can be quite a tricky process at the best of times, Mona and Julia showed the group just how easy it is to use Loprofin baking products and the great results they can achieve with them.

The feedback from the day was very positive, not only was fun had by all, but the ideas taken away from the day will be of great benefit to all those people who follow a restricted diet. As anyone following a restricted diet knows, adherence can be a major issue due to a lack of choice on the diet. Our aim is to show people on the diet that these restrictions need not be the obstacle they appear, and thus improve their chances of sticking to it.

There were times when they would use it as a hold over me, particularly when we were fighting. They would chant “we can eat chocolate but Julie can’t…”. I can still picture them doing it. I would get angry, although I don’t think it was because I couldn’t eat chocolate, it was more because they were picking on me. I have to admit I did try chocolate at an early age but I never liked the taste. They were good to me overall and they always looked out for me, some times too much.

Eating out was fun, we would get some funny looks from people as we brought out the scales to weigh the fries and other stuff. Overall this was rare: we did have a game to come up with the best reason for doing it. Once we convinced this old couple that I was a space cadet from NASA getting ready for my first flight!!

As time went on I did start to rebel, this was mainly in my late teen years. I got a real liking for McDonalds! I think I did suffer though… my grades went down and I put on weight.

Now that I am older I am back on my special diet: I would like to start a family in the near future and its real important for the pregnancy phase.

Well that ends my little blog, I hope it was of some interest to you. Just remember, even though you have PKU you can still live your life.

I met Jill on a night out, and it was about a week or two before PKU was a topic of conversation. I remember Jill came round one day for a BBQ and to meet the parents (there wasn’t any Ben Stiller style comic shenanigans…unfortunately). After the initial meet ‘n’ greet, we moved through to the garden where the Lord of the BBQ (my dad) got to work. The chat was moving along until the inevitable question came, “What would you like Jill? Hamburger? Sausage? Chicken? Ribs?” Jill replied and started to explain about phenylketonuria and that she would not be able to have any of the food my dad had lovingly prepared. My mum, ever the parent stepped in and offered a breadroll to make a chip butty only to be told that the bread had protein in too so she’d just stick to a jacket potato and salad. I think my dad thought she was on one of these new age diets and even said “you need some meat on your bones” slightly missing the point (bless!)

I remember thinking, “what can you eat?” and being completely puzzled by the fact that in the 25 years of my life I had never heard of this fenny-kettle-yourear thingy. I spent hours that night looking on the internet but the first problem I discovered was that I did not know how to spell it!! Google is a great tool when you know what you’re looking for, less so when you don’t! Typical! The next time I saw Jill I told her about my attempt to find out more information and my (frankly, schoolboy) spelling, which she found highly entertaining. Jill said it is often just abbreviated to PKU, which I was fairly confident I could spell!!

Back to the internet, PKU spelt correctly. Once I’d realized that it didn’t stand for PeKing University, I found quite a lot of information about this mystery condition (or at least a mystery to me!)The first time I cooked with PKU foods, I thought I would be a mans man and make a manly batch of….fairy cakes, as Jill could not go to the shops and just buy them like I do (not all the time, but they are a nice treat!) Jill’s mum gave me the prescription ingredients, (Low protein flour, egg replacer) and lent me some low protein cookery books. Making the mixture I felt quite confident, thinking “this is not too bad”, “looks like normal cake mixture” and I had a taste out of curiosity! It tasted like normal cake mixture! I put the mixture into little fairy cases and put them into the oven for 15 mins. After 15 mins they looked really pale so not knowing much about what they should look like, I put them back into the oven to brown. I removed them from the oven not long after, and they had turned brown, but were as solid as rocks! I had completely burnt them! I cut the top off of them and inside did not seem too bad as they looked spongy but slightly lighter in colour to what I was use to. I was so determined to make them so I had another go. This time I removed them from the oven when they were still pale but they were firm to touch. This attempt was much better, they tasted not dissimilar to the cakes I normally have. The moment of truth was when Jill tasted one, she was very impressed and ate the lot! Gordon Ramsey watch out! She was only off work sick for a week too (only joking!)

Three years on our relationship was going strong and we decided to purchase a house, so after traipsing through many properties we managed to purchase one. This was a voyage of discovery in many ways as it would be the first time we had lived together and it would be our first attempt of cooking meals together. This was the first time I really worried about Jill and PKU as I had no idea on cooking main meals for myself let alone a PKU diet. PKU cakes and biscuits were fine but a main meal? What would I cook? I did not understand the exchange system or how to calculate protein in food: it was a minefield! Jill was really reassuring and taught me lots though

The best thing though is that Jill is actually quite a talented chef herself, not to my levels you must understand, my beans on toast have a Michelin star, but she’s more than happy to cook up a meal when she gets home as it’s usually a good two hours before me. She’ll do 2 versions, one for herself and protein-i-fied one for me. Usually this means doing a veggie sauce and frying a bit of chicken for me to add to it. I ain’t complaining. Beggars can’t be choosers

I expect my experience will be familiar to some of you and for people that have just become familiar with PKU it will become a second nature to check ingredients. Some of my ex-girlfriends used to count the calories on packaging this one just counts the protein!

The fact that there was a meeting at all was down to the hard work of Barbara Cochrane from NHS Greater Glasgow and Clyde and the Clinical Network who organised a great day for all those who attended.

As well as work shops for children of all ages, there were also discussion groups for the older people attending where they were given the chance to talk about any and all the issues that affect them. The morning workshops for the younger children were designed to give their parents and carers a chance to attend these discussion groups. To do this the children were kept well occupied!! Mona Taylor, a professional home economist who specialises in cooking for a restricted diet, had the children decorating food for the upcoming Christmas holidays.

The afternoon saw the older children and teenagers go off to do some outdoor activities, and the younger children were treated to a special visit from ‘The Animal Man’ and his collection of cuddly critters!! This again freed up their parents to come and discuss more issues that they face, primarily diet adherence. Mona had prepared lots of different low-protein recipes for the parents and carers to come and finish off. This was to give them new ideas for recipes especially with Christmas around the corner and another opportunity for them to mix in an informal setting.

The overwhelming consensus amongst those who attended was that this event was definitely a success. The real value of meetings such as these is the chance to come and meet people in the same situation, especially for the children affected. Confidence and friendships can be built at events like this and this is why we hope this meeting will be taking place again next year.