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.

Click here to view the embedded video.

An important aspect of the pre-conception diet was the time she spent with her dietitian: revisiting the importance of weighing food properly and being organised. Angela also talks about how her mental alertness improved once she started the diet.

Some useful ideas (relevant to anyone with PKU):

• Keep a food diary.
• Re-think your food shopping – the need for “free” or low protein foods to fill you up.
• Sign up for a home delivery service.
• Fizzy drinks are you friend (especially Lucozade).
• Look for low protein recipes that you can easily make.
• Buy a digital cooking scales – it’s easier and more accurate.

For clarification the term “ pre-conception diet” refers to the need to go on diet prior to conception.

Cubitan®(Nutricia) is a specific nutritional supplement that is enriched with arginine, trace elements and vitamins (ie Zn, Cu, vit E, vit C, folic acid). Its effect on pressure ulcer healing in non-malnourished patients was assessed in a multi-country, doubleblind, randomized and controlled trial. Subjects with BMI ≥18.5 or ≥21 (if >70 years) and grade III/IV pressure ulcers were served 3×200ml per day of either Cubitan® or a non-caloric control product for a maximum of 8 weeks (Cubitan® 22 patients, Control 21 patients; ITT).

Supplementation with Cubitan® improved pressure ulcer healing, as indicated by a significant difference in ulcer surface area and severity compared to the control  group over the period of 8 weeks. Supplementation with Cubitan® is also likely to reduce the overall cost of pressure ulcer care; significantly fewer dressings were required per week in the intervention group and less time was spent changing the dressings compared to the control group.

This study proves that non-malnourished patients with pressure ulcers can benefit from a specific nutritional supplement intervention and that its benefit might reach beyond restoring caloric and protein deficiencies, as often is the case in malnourished patients.

This is a summary of the presentation given Professor Jos Schols at the recent Nutricia Satellite Symposium, ESPEN 2009 held in Vienna on Sunday 30th August 2009.

Professor Jos Schols is the chair in Nursing Home Medicine at Maastricht University Medical Centre and medical manager of a large nursing home organization. Professor Schols studied medicine at Maastricht University, Maastricht, The Netherlands, earning his PhD in 2000 on the subject, ‘In and from the nursing home; collaboration between nursing home physician and general practitioner’.

The main targets for viral replication are the CD4 T-lymphocytes, which are central to immune defenses. Once infected, CD4 cells become inactive and are destroyed. This has made the CD4 cell decline the gold standard in monitoring disease progression. CD4 cells are most abundant in the gut, which is believed to be a possible reservoir for the virus after infection and difficult to reach by antiretrovirals. Early in disease, the gut integrity is disturbed. Also malnutrition and hyperimmune activation can occur in these early stages and trigger disease progression.

Research in this area in past years has, therefore, focused on the effect of specific nutritional components on improving gut health and immune function. In proof-of concept trials a unique oligosaccharide mixture showed improvement in the disturbed gut microbiota present in HIV patients, who are not yet on antiretrovirals. Also, immune activation was suppressed and NK activity improved. These properties are of great importance in HIV disease, especially early on, to prevent or slow deterioration associated with infection.

To address the role of nutrition in CD4 decline, a new and unique nutritional formulation that targets the decline is being tested in a large randomised placebo controlled multi-centre trial at 31 sites. If this intervention trial ultimately proves successful, it may have major health implications for HIV patients.

This is a summary of the presentation given Professor Donald Kotler at the recent Nutricia Satellite Symposium, ESPEN 2009 held in Vienna on Sunday 30th August 2009.

Donald Kotler MD is Professor of Medicine at the Columbia University College of Physicians and Surgeons and Chief of Gastroenterology at St. Luke’s-Roosevelt Hospital Center in New York City where he also is Director of the GI training program.

Nutrition has a valuable role in preventing and managing multi-factorial disease processes, complementing rather than replacing pharmacological treatment. Immune related disorders may benefit particularly from a nutritional approach since the major part of the immune system is localised around the gastro-intestinal tract. A good example of effective and safe immunonutrition’ is breast milk, which contains many components with a positive impact on the immune system.

Oligosaccharides, abundantly present in breast milk, have been investigated intensively by our group. A unique mixture of short chain galacto-oligosaccharides and long chain fructo-oligosaccharides was shown to improve immune function at multiple levels of defense including physical/chemical barriers, innate and adaptive immunity. Recent research indicates that regulatory T cells and TLR receptors play a role in the observed beneficial effects in animal models for infection, inflammation and allergy. In clinical trials with young infants the beneficial effects were reproduced and validated. Because of the immunological potential of carbohydrates, preclinical and clinical studies are ongoing, aiming to improve health in cancer, HIV and the elderly.

This is a summary of the presentation given by Professor Johan Garssen at the recent Nutricia Satellite Symposium, ESPEN 2009 held in Vienna on Sunday 30th August 2009.

Professor Johan Garssen is Research Program Leader in “Immunopharmacology” at the Utrecht Institute for Pharmaceutical Sciences, Utrecht University, and Director of the Immunology Platform at Danone Research Centre for Specialised Nutrition, Wageningen, The Netherlands.

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.

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

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.

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.