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

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.

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.

Dr Anita MacDonald, a world renowned specialist in the treatment of metabolic diseases, organised the day with help from colleagues at Birmingham Children’s Hospital and sponsorship from companies such as Nutricia Ltd. The aim of the day was to provide these children affected by metabolic diseases with a chance to meet, greet and compete against each other in a variety of events. The day started with a traditional Chinese Dragon Dance, a homage to the summer Olympics. To mark the opening ceremony, a special flame was lit and the events started, from the 200 metres to the ‘Best smiley face’ competition. The ages of the children participating ranged from 2 – 16 years and everyone had the chance to compete in some of the events (with the ‘Bunny Hop’ being fiercely contested amongst the younger participants!)

Once the competition had drawn to a close, it was time for the medals. There was a very special guest of honor there for the presentation. Mickey Bushell won a Paralympic Silver medal for the T53 100m sprint at the Beijing Games and was on hand to not only hand out medals, but also to inspire the children and show that they too can achieve their goals through hard work and persistence. The children were given their medals and flowers in front of their family and friends before the big finale. An (almost) impeccably cheorographed dance routine in the middle of the track field in the shape of the olympic rings!

Some were there to compete, some were there to make friends, but all were there to have a good time, and for this, the Birmingham Children’s Hospital IMD Games 2008, definately took the gold!

MSUD has an incidence rate of 1 in 250,000 people in the UK (this is similar to the US): it is inherited in a autosomal recessive manner. This means that the parents of the affected child carry a genetic trait that causes MSUD. There is a 25% chance of having a child with MSUD if both parents are carriers.

People need proteins to live and grow however a person with MSUD is unable to process the amino acids called leucine, isoleucine and valine: these are commonly known as the branch chain amino acids (BCAAs). A person with MSUD will have high levels of these BCAA in the blood which penetrates and damages the brain.

There are 5 different types:

Classic.
Intermediate.
Intermittent.
Thiamine sensitive.
Dihydrolipoil deshydrogenase deficiency.

We will focus on the classic type at this stage, which is the most severe.

The symptoms are characterised by the sweet smell of urine. Typically an untreated baby will experience poor feeding (unable to suck), lethargy, vomiting, rigid muscle tone and seizures. If left untreated it can lead to permanent mental retardation, coma and even death.

Early diagnosis with good metabolic control through dietary management will help to minimise the risk of brain damage. Such a diet will restrict the protein intake: mainly the branch chain amino acids (BCAAs).

In the UK there is no neonatal screening for MSUD: it is screened in about half the States of the USA and some other countries. It is imperative that special medical attention is sought after if a child experiences the symptoms described.

There is no cure for MSUD and an individual should remain on diet for the remainder of their life.