Exchanges.
Travelling and Socialising.
Morning Sickness.
The first Scan.

Click here to view the embedded video.

Her exchanges went from 2 to 44 during the pregnancy. She explains that babies receive food and nutrients from their mothers. The baby is connected to the placenta by an umbilical cord. This carries the food and nutrients to the baby. Protein is the key building block needed to support a baby’s growth. This is why Angela’s exchanges went up so rapidly.

Being pregnant with PKU does not have to restrict your life. Despite the need to follow such a strict diet, Angela gives an account of how she travelled to Turkey for her sisters wedding.

Morning sickness was a bit of a pain as it sometimes meant having to take a second batch of protein supplements!

The first scan came as a bit of a shock because she discovered she had twins!!!

To see part 1 of Angela’s blog please click here.

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.

Chaired by two of the UK’s best known Paediatric Gastroenterologists:

Dr Peter Sullivan (London) and Dr John Puntis (Leeds)

A line up of speakers from some of the UK’s most prestigious hospitals,brought together to advance the field of Paediatric Nutrition, including Dr Anita MacDonald and Dr Rob Moy from Birmingham Children’s Hospital
and Dr Keith Lindley from Great Ormond Street, as well as speakers from Manchester and Brighton Children’s Hospitals.

Topics will include:

• An introduction to the new WHO Growth Charts
• Understanding issues with compliance in children
• How the new WHO protein requirements will affect practice
• Feeding children with neurological disabilities

We will also be hosting an expert panel in the field of Paediatric Nutrition.

Two great venues to choose from:

Congress Centre, London – Minutes from Leicester Square and Charing Cross underground stations in the heart of the West End.

Leeds City Marriott Hotel – In the centre of Leeds, located a short walk away from Leeds train station.

Take your knowledge into the future – Book your place today

For further information, registration and to see the full agenda, please go to:

www.confab-consulting.co.uk/paediatrictubefeeding2009

I was put on a very restricted special pku diet at the time of my diagnosis but was only kept on it for a year. The doctors felt like it was too late for the diet to prevent any mental retardation and suggested to my parents that they begin the process to have me institutionalized. Lucky for me my parents didn’t take their advice because I did not become mentally retarded. Any other women my age with late-diagnosed or untreated pku that I knew of were, however, profoundly mentally retarded. In 1993, at the age of 31, I gave birth to my first child. It wasn’t until he was 13 months old and my twins were on the way that I discovered something wasn’t right about my son’s development. I got him into an early intervention program after a developmental screening showed he was severly delayed in many areas. When my twins were born, they were placed in the program also-at the time as “at risk” children. It became apparent soon after their placement that they too had severe developmental delays. 12 months after my twins were born I gave birth to my youngest son. He too had multiple delays and disabilities. When he was 3 months old, I was told that my boys were severely affected by my pku and that a special diet would have prevented my boys’ disabilities. This is such a long, complicated story, but I wanted to share it and offer some advice to other women with PKU.

1. If you’re planning on getting pregnant, FIRST check with a pku clinic near you. If you’re not already on the special low-protein diet, GET ON IT. To help ensure your baby is healthy, you have to be on the diet for a certain amount of time, prior to conception.

2. If you discover you’re already pregnant and not on the pku diet, get to your nearest pku clinic and get on the diet immediately. You still have a chance of having a healthy baby.

3. If you have already had a baby, were not on the diet during your pregnancy-or before, find the nearest early intervention program and have them placed in it. If your baby doesn’t show signs of any problems, put them in the program as “at risk” children. I thought my oldest boy was healthy and normal, until we started noticing things were’nt right at 13 months. My children look completely normal on the outside. Yours probably will too, at first.

If there are developmental delays in your child that become more apparent as they get a little older, by placing them into an early intervention program right away, they’ll be in the best place possible for getting their special needs met.

I was devastated and in total denial when I first learned of , first one child’s disabilities and later on that all 4 of my babies were developmentally delayed and disabled. The best thing I ever did for them was get them into early intervention at the get go. It has made all the difference and they will be that much better off as they become young adults.

One thing that I have noticed is that right before a really bad flare-up, my behaviour changes. I become very obsessed about having the house clean and everything in perfect order. It is like subconsciously I understand that I am losing control of my disease, so therefore I try to have control on everything else around me. And, the closer the peak of the flare-up comes, the crazier and more obsessed I get. But now I recognize my behaviour. And I know that when I start getting obsessed, it is because I am losing control over my life and am just trying to find a sense of control again. Now that I know this, I can see what is coming and try to make myself calm down and do what is necessary.

I remember one time, about two and half months after my daughter was born my Crohn’s started to flare up. I resisted the flare and tried to deny it was happening. I didn’t ask for enough help until too late. I thought that I could do everything myself. During that time, there was a night where I felt such a loss of control and feeling of being overwhelmed. I was crazily cleaning the kitchen floor when I realized that I was acting crazy and started to cry because I was trying to force some control over an area where I had none. I was making myself crazy doing this all because I was having a flare-up, and I needed to go to the hospital. And when you have to go to the hospital, you can’t do anything but admit to yourself that you don’t have as much control over your body as you wish.

Listen to your body. Hear what is has to say and do what it asks. You have to know your body very well sometimes to see a flare-up coming. Being proactive in the beginning of the cycle is a lot better than waiting until it is too late to turn it around. Sometimes there is just nothing you can do, but sometimes paying attention circumvents big flares. So listen to what your body tells you.

Issues being discussed range from Gastrostomy Feeding in Paediatric Neurodisabilities to Ketogenic Therapy in Epilepsy: Bridging the Gap between Evidence and Medical Practice.

This symposium will be of interest to Dietitians, Paediatricians, Neonatologists, Neurologists, Neonatal and Paediatric Nurses.

Registration to attend is free but places are limited and will be allocated on a first come, first served basis.

Click on the picture for more details on how to regsiter for this educational event.

As always it brings together parents, patients, carers, families and friends, allowing them to share their experiences and concerns. It also allows them to interact informally with dietitians and other healthcare professionals.

There was also an opportunity to find out what all the suppliers were doing. Nutricia had a big presence, providing low protein cake decorating demonstrations and low protein cookery workshops. There were also stands from Fate Special Foods, Firstplay Dietary Foods Ltd and Vitaflo.

On the Saturday, Dr Anita MacDonald from Birmingham Children’s Hospital gave a presentation on omega 3 fatty acids in PKU. She explained why these acids are so important and highlighted what products provided it.

Dr Sally Craig from the School of Clinical Dentistry Sheffield then described why dental hygiene was so important for children with PKU.

Warner Knight, father of 4 PKU children gave a very interesting talk on the trials and tribulations of travelling the world with PKU children. He provided the audience with some excellent tips and encouraged others to do the same.

Dr Elaine Murphy from Charles Dent Metabolic Unit talked about Kuvan (BH4) and asked the question: Is it a new treatment for PKU? The big issue is the expense of such a new treatment.

“Is PEGylated Phenylalanine Ammonia Lyase the therapy of the future?” This was the big question that was addressed by Dr Christineh Sarkissian from the Department of Human Genetics, McGill University, Montreal, Canada. PAL, which is basically a foreign protein that acts as a surrogate to the deficient PAH, converting Phe to the trans-cinnamic acid and ammonia.  There is a great deal of potential here but clinical trials are still in progress.

Michael Wright then presented his life’s experiences with PKU. His key message was “ a normal diet can be led as long as the diet is controlled.

Mona Taylor from Nutricia ran an excellent workshop on cooking with low protein foods. She demonstrated many simple tips on what should and should not be done. She gave every body the opportunity to participate and try new recipes. This was a real hit with parents and children alike.

It is fair to say that every one enjoyed the weekend: they are looking forward to 2010 for the next event in Skipton.

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

Below is just a little bit of advice. If you are planning a big trip, speak to your local doctor first.

The first thing you should do, whether you are traveling abroad or close to home, is locate a doctor in the area you will be visiting. There are several organizations available to help in your search or you can simply ask your doctor for referrals or best yet, good old Google!

If you are taking prescription medication, you should be sure to take plenty for the duration of your trip. You should also keep it with you when you travel on the plane to avoid it being lost like luggage can be. Always keep your medication in its original container and carry a typed statement from your doctor regarding what medications you are taking and what they are for. You will also need to get copies of all of your prescriptions, including foreign names, in case you have to refill them abroad. However, you should avoid this by carrying enough medication with you, as filling prescriptions in other counties can sometimes be difficult.

A common ailment among travelers to less developed countries is known as “traveller’s diarrhea”. This can be especially dangerous for sufferers of Crohn’s Disease and special care should be taken to avoid it from occurring. Basically, traveller’s diarrhea occurs from the ingestion of water or food that is not as stringently processed as in more developed countries. Steps that should be taken include being very careful about what you eat or drink; do not drink water unless you boil it; avoid drinks made from tap water, like tea or juices that may have been mixed from concentrate; use bottled water to drink and to brush your teeth with; avoid ice, ice cream, and uncooked fruits, vegetables, and meat; avoid diary products as they may not be pasteurized; and do not eat any questionable food. If you become affected with traveller’s diarrhea, take an over the counter medication and be sure to intake plenty of fluids to avoid dehydration.

Also watch for signs of a medical emergency, such as high fever or chills, which may be a sign of infection; profuse rectal bleeding; extreme abdominal pain; dizziness; or dehydration. If any of these occur, seek medical attention immediately.

Following these basic rules will help you enjoy your travelling more as a lot of the stress and worry associated with travelling with a condition such as crohn’s will be taken out of your trip.

Happy travelling!!

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!