International PKU Day
Menu
0
Samples

PKU

NSPKU-1024x829
,

International PKU Day

International PKU Day

Every year on the 28th of June, the PKU community joins together to celebrate International PKU Day. It’s one of the most talked about days in the PKU community calendar, and a time where families, patients, charities and companies join together to raise awareness of Phenylketonuria.

Raising Awareness

A brief chat with different people in the PKU community will show you that International PKU Day means different things to many of us. We feel International PKU Day serves its biggest purpose to PKU families by acting as an annual encouragement to raise awareness of Phenylketonuria.

Many people within the community take part in fund raising activities, share their very own personal PKU stories (all packed with emotion) and broadcast the existence of PKU to the world. This year, the NSPKU have organised a Step forward for PKU walk on Sunday 30 June in Durham.

PKU is such a rare disorder, so its huge to make ourselves known to the rest of the world, not only to help raise funds for research, but also to help in a political struggle for PKU treatments to become available in the UK (which are already available elsewhere in Europe).

Remembrance to Robert Guthrie and Horst Bickel

International PKU Day also serves as a remembrance to two men who were born on 28th June. Robert Guthrie, born 28th June 1916, developed the first new-born screening test, and Horst Bickel, Born 28th June 1918, was the first to develop a low protein diet for PKU infants in 1951.

Without these amazing findings from Robert Guthrie and Horst Bickel, those with PKU would almost certainly be subject to mental retardation, with untreated new-born babies being dangerously affected by protein in foods and milk.

Anybody born with PKU genuinely owes their quality of life to Guthrie and Bickel, and their mutual birthday is certainly a fitting occasion to celebrate PKU as a successful, life changing discovery which the whole community is indescribably thankful for.

A Reason to Celebrate

With the raising awareness and remembrance of the two men who discovered a successful low protein diet for PKU, we really feel that International PKU Day gives us something to celebrate.

Some members of our tight-knit community might be celebrating by running a half marathon to raise money for PKU, others might bungee jump off a bridge or do a skydive, but getting together to enjoy the company of other people who also share the same day to day challenges is golden to those who live the PKU lifestyle.

There has never been a better time to get involved in raising awareness of PKU. Start a fundraising campaign in your community, talk to your local press, share your PKU story with the NSPKU or ask your friends, family and local MP to join the NSPKU’s Diet for a Day Challenge.

What does International PKU Day mean to you, and how are you going to get involved? Let us know in the comments!

woman-1024x683
,

PKU – What is happening inside you?

PKU – What is happening inside you?

PKU is the best known of the rare inherited metabolic disorders. It is caused by a genetic deficiency of the enzyme needed to convert one essential amino acid (phenylalanine) to another (tyrosine). It results in too much phenylalanine and not enough tyrosine.

PKU can cause profound effects on brain chemistry, a lack of essential blocks for other things (e.g. melanin, thyroid hormones) resulting in an IQ of around 30, agitation, and pale skin and hair, if not treated with a low-protein diet.

At Salford’s PKU patient event in May 2019, Consultant Gisela Wilcox delved into the effects of too much phenylalanine and not enough tyrosine in the PKU diet:

Effects of too much phenylalanine:

  • Toxic effects on nervous system
  • Oxidant stress and inflammation in brain and bone
  • Decreased brain growth, remodelling, changes in white and grey matter
  • Low bone density and fractures

Effects of too little tyrosine:

Tyrosine is an amino acid. Amino acids are the building blocks of protein. The body makes tyrosine from another amino acid called phenylalanine. Reducing phenylalanine therefore has a direct effect on tyrosine levels.

  • Lack of dopamine in the brain – less drive, motivation, tired, poor concentration
  • Tremor
  • Pale hair and skin
  • Decreased protein synthesis (skin/hair changes)
  • Lack of thyroid hormones (bone development/energy)

More information

Read more about PKU and low protein diets here.

We hope this article was useful. If you have any further questions, email us at ukinfo@cambrooke.com.

NSPKU-1024x829
,

About the NSPKU

Introduction

The NSPKU was founded in 1973 by Brian and Sylvia Smith, whose sole aim was to help build a community around Phenylketonuria (PKU), a rare metabolic disorder.

1 in 10,000 babies born in the UK have PKU, that equates to around 60-70 babies per year, and the NSPKU exists to support patients, families and carers and to help them live and thrive with the condition.

How can they help you?

The NSPKU has many functions, including but not limited to, promoting care, providing new parent packs, holding PKU events and conferences, and creation of advice papers for employers, pharmacists and professionals. All with the aim of keeping you on track with your low protein diet.

The organisation also sponsors medical research into alternative treatments and field a plethora of enquiries on a daily basis through social media, email, phone and direct message. Queries relate to anything from ‘travelling with PKU’ to ‘exchange value confirmations’ to ‘general support and guidance’. All queries are logged, tagged and followed up on.

The NSPKU have also been involved in raising awareness of PKU amongst MPs, and recently got a selection of MPs to do the PKU diet challenge for one day. As of 24 May, 2 of the MPs are looking to do the diet for a full week.

6 Demands for Change

The NSPKU have several objectives for the foreseeable future:

  1. All children and adults to be treated within specialist metabolic centres with experienced physicians and dietitians
  2. All adults with PKU to have lifelong systematic metabolic treatment and follow up in a specialist centre
  3. Fair, transparent and equitable commissioning of all non dietary treatment for PKU
  4. All patients to have BH4 responsiveness testing
  5. All patients should have access to psychological support and age appropriate neurocognitive testing and follow up support
  6. Better access to the full range of prescription products including low protein foods and protein substitutes.

NSPKU Annual Conference

The NSPKU’s annual conference is an excellent way for patients and new parents to find out everything they need to know about PKU and we would highly recommend attending. Over the three-day event, you will meet others with PKU in the UK, get food and recipe inspiration, try a range of protein substitutes to find the right formula for you, and attend talks from professionals in the field. These talks range from medical professional’s PKU research, to patients talking about living with PKU.

Comprehensive Food Guide

The NSPKU also maintain a very important ‘traffic light’ food booklet. ‘Green foods’ listed in the booklet are exchange free and do not need to be counted as exchanges. ‘Amber foods’ can be eaten in moderation but do need to be counted as exchanges. ‘Red foods’ should be avoided completely. All of our Low Protein in 15 recipes use exchange free foods from the green list unless explicitly stated.

If you have any other questions, email us at ukinfo@cambrooke.com.

beautiful-blond-blonde-1586335-1024x683
,

The PKU Diet and Emotional Health

The PKU Diet and Emotional Health

At NSPKU 2019, Lesley Walker, Psychological Therapist, took attendees through her emotional first aid toolkit for combatting distress and trauma associated with living on a Low Protein Diet. We wanted to write a blog post about the main technique she uses for her own patients, to help others that might be going through similar emotional health issues.

Lesley’s children, son-in-law and grandchildren have PKU, so she knows first-hand how the condition can affect an individual and family.

Lesley likened the initial PKU diagnosis to a ‘trauma’. A trauma is an event that is (i) negative; (ii) life changing; and (iii) unexpected. Post traumatic stress disorder (PTSD), anxiety and depression can all result from this trauma if not addressed properly, and Lesley discussed her most effective technique for combatting these negative feelings. This technique is called the Emotional Freedom Technique.

The Emotional Freedom Technique: Introduction

The Emotional Freedom Technique (EFT), is a technique that has been used quite prevalently in the last 15 years, for combatting trauma. EFT is described as emotional acupuncture, without the needles.

According to Lesley, “If we are stressed, angry, fearful, phobic or anxious then our mind and body system goes into the fight or flight stress response. If this response is ongoing we often become worn out, sick, overweight and generally unhappy. This is when tapping becomes an extremely useful and effective technique. If used correctly it stops this stress response. Scientific studies have shown that using EFT, retrains the limbic system and permanently alters the brain’s neural pathways. In other words, it literally rewires the brain so that a previously negative event is perceived in a completely new, more positive way.”

The Emotional Freedom Technique: Initial task

First of all, you should list certain memories that triggered unpleasant feelings for you in the past. These could include: initial diagnosis, being at school, eating out, dealing with hospitals and medical professionals, entering teenage and more.

Then, list the emotions that come along with those memories. This could include: disbelief, loss, fear, responsibility, feeling different, isolation, lack of control, worry, guilt and so on.

The Emotional Freedom Technique: ‘Tapping’

Don’t attempt to fix all negative feelings at once. First of all, just focus on fixing one particular memory, and the corresponding negative feeling associated with that memory. Start small. Perhaps think about one negative problem or event that has been on your mind. Be very specific.

Using the three middle fingers on your right hand, lightly tap the side of your left hand (next to your baby finger) 10 times. Using the same three fingers, tap the top of your head, under your eye, under your nose (above lip), your chin, your collar bone, under your arm, and then repeat again (10 times each) for as long as you can or need to feel less stressed and more revived.

The Emotional Freedom Technique: How it works

Lesley claims that one hour of tapping has the ability to turn on/off 70 different genes. She also claims that the same hour of tapping can drop cortisol by as much as 24%. Cortisol is a stress hormone released by the adrenal glands, and is important for helping your body deal with stressful situations. However, too much cortisol, over time, can result in high blood pressure, weight gain, moods, reduced energy levels, poor sleep and more.

Tapping is based on acupuncture and is a form of ‘acupressure’. When ‘mind’ techniques fail to work, ‘body’ techniques are used as a more aggressive form of trauma relief, and have a much higher success rate.

If you have any further questions about this technique, the low protein diet or would like to speak with Lesley directly, visit: http://www.lesleywalkertherapy.com/. Or if you have any other questions, email us at ukinfo@cambrooke.com.

ctstages-1024x377
,

What’s new in PKU?

Dr Hugh Lemonde, Consultant Paediatrician Evelina London

At NSPKU 2019, Dr Hugh Lemonde, Consultant Paediatrician Evelina London, presented on ‘What’s new in PKU?’, specifically delving into the stages of clinical trials and pre-clinical trials. Here’s what we learned…

Phase 4 Trials

Pegvaliase

  • Enzyme replacement Therapy
  • Improves control in adults with sub-optimal control (PHE >600umol/l)
  • Daily injections, not suitable for children
  • Side effects can be a problem
  • Not currently commissioned by NHS

Kuvan

  • Helper to boost PKU enzyme (PAH)
  • Tablet easy to use
  • ↑ exchanges but rarely replaces diet
  • Only works 20-40% patients
  • Not commissioned by NHS Helper

Pre-clinical Trials

  • Probiotics to sit in gut and stop phe being absorbed
  • Enzyme infusion via red blood cells directly into blood stream
  • Liver cell transplant – purify liver cells or Stem cell transplant from human placenta, stem cell is a cell capable of becoming another cell type in the body, inject into blood stream and they can go to where they are needed
  • Gene therapy to create new PKU gene to enable liver cells to make new PKU enzyme normally. No trials for PKU yet, at least 10 years away & costs £1,000,000 per patient
,

How friendships can help you manage PKU

Do you have friends who have PKU?

Having a child with PKU, or indeed having PKU yourself, isn’t always easy and having a support network is important. Friendships with families or other adults in the PKU can be some of the most supportive and fruitful in your life.

If you’ve ever been to a PKU event or conference, you will have seen how it is – a load of strangers who are bound together by PKU have an immediate bond.

Having someone else that truly understands what you’re going through, whether it be another parents to a child with PKU, a PKU teen or a PKU adult, is truly empowering. And while you should never offer or take medical advice, sometimes the only person who ‘gets it’ is someone who knows what it is to walk in your shoes.

This is what some of our followers have to say about the value of friendships in the PKU community:

AD: “My best friends son has PKU as well as my son (similar age). It’s nice to see them grow together and eat the same foods and for them not to be on their own, its also nice to have someone to talk to as a pku mum to share food ideas, good low pro finds and for all the ups and down that come with pku x i couldn’t be without her most days.”

NG: “[One of the best thing about PKU is] Meeting lots of different people from different backgrounds with the same disorder and making friends for life with these people.”

KB: Some of my closest friends in the world have PKU, like me, and when we met it was as if we’d known each other our whole lives. They get me. They understand the struggles I go through, and I understand theirs. We help each other, we support one another and sometimes we cry on each other’s shoulders. They’re my family. My PKU family. When I meet other people with PKU for the first time, it’s never awkward. It’s like meeting up with an old friend, and I will always be grateful for the friendships that PKU has given me.”

These words from our followers sum it up beautifully. Other people in the PKU community will get you. They understand your struggles, understand the wins when others might not, and they can help you advocate for yourself, too.

For children and teenagers, friendships with others with PKU are important because growing up with PKU can feel lonely. It doesn’t need to be, though! PKU conferences and events, and camps like the one held at Keswick every year, are a fantastic place to meet others. We guarantee you that you’ll make friends for life. Having friends with PKU gives a sense of belonging and of not being different. It can help to stay on track and to face the challenges that will inevitably come up.

What do your PKU friends mean to you? Why are they important? Tell us in the comments!

Top-tips-for-travelling-with-2-300x300
,

Tips for Travelling with PKU

Tips for Travelling with PKU

With summer holidays already in full force in the UK and rapidly approaching for those across the rest of the country, it’s a good time to talk about travelling with PKU.

PKU adds an extra layer to preparing for a family holiday, but it doesn’t mean that you can’t have a fantastic time with a little preparation. There’s no limit to what you can do or where you can go, as long as you plan ahead.

Once you’ve decided where you want to go and how you’re going to get there, it’s time to start getting organised. If you are driving then it’s easy to pack all the PKU supplement and low protein foods you’ll need. Flying can complicate things a little more, but it’s not impossible to get on board and to your destination with everything you need, and that’s what this blog post will focus on here.

We’re very lucky in the UK. We are close to Europe and it’s often just as cost effective to fly to Spain for a week as it is to have a holiday in England during the summer holidays.

It’s worth doing your research with airlines before you book. While cost is often a huge consideration, many airlines will allow you to take an extra bag for medical supplies. This eases the stress of packing immensely as you can fit in scales, supplements and low protein foods

Choosing your hotel should be a careful consideration, too. Take the time to email or phone around to discuss whether they would be willing to cater for the PKU diet. All inclusive hotels are often a good option if they will cook the low protein pasta, as there are often plenty of fruits, vegetable and salad options freely available at meal times.

When travelling, make sure you always have your ESPKU Metabolic Disorders Travel Passport and a letter from your metabolic clinic with you to explain what the foods and supplements are, and what they are for. This should allow you to bring a small amount onboard in your carry on, ensuring you have a supply in the event your luggage was to go missing.

In the coming weeks we will make a post about travelling at home, so keep an eye on our Facebook page!

And with that, prepare, go forth and have an amazing summer!

What are your top tips for travelling with PKU? Share them with us in the comments!

Load More