What is wrong with aspartme? The Sugar Tax and PKUs

First of all let me make my stance on the Sugar Tax clear. I personally, am all for it as I believe there is too much sugar in our diet, it is a luxury and obesity is one of the biggest killers next to smoking, so if we can do anything to reduce our sugar content I think this a good thing.

So far the tactics for the Sugar Tax have been to reduce bottle size and increase prices. Another big change for the Sugar Tax has also been to change full fat sugar drinks to contain aspartame (even though there are many diet alternatives with aspartme available). Aspartame is a sweetener that has no adverse effects on the 'normal' population. There are suggestions and scare stories that it has been the cause of cancers and seizers etc. but these are still yet to be proven true. However a small percentage of the population is directly affected by aspartame and that is people with Phenylketonuria (PKU). 

People with PKU cannot break down the amino acid phenylalanine and aspartame is an ingredient of this amino acid so it is pretty much poison to us. If you look on the back of any diet drink or drinks like Fanta and now Sprite you will see there is a statement contains a source of phenylalanine. This is a warning purely for the PKU population! I found this quote from the food standards agency website.

"Sufferers are normally diagnosed shortly after birth by a routine blood test and need to follow a very strict diet in order to limit their intake of phenylalanine, which is a normal constituent of proteins in food. Since aspartame is also a source of phenylalanine, all food products containing aspartame are clearly labelled to indicate the presence of phenylalanine so that those people who suffer from PKU can avoid consuming these products. This labelling is a legal requirement."

PKU's have a very limited diet when it comes to every day food, it means you cannot have high amounts of protein, even a slice of bread is considered too high for some classical PKU's such as myself. This means when we go into a restaurant even the Vegan and vegetarian options cannot be consumed as they often have cheese, eggs or lentils. Sometimes the only thing we can chose from a menu of 30 items are sides such as chips or jacket potatoes. So you can understand PKU's fustration when they wake in the morning to learn that Sprite or Dr Pepper has now changed their recipe to include aspartme. Meaning they cannot have their favourite drink as a treat or now when they go out for a nice meal, not only do they have to check their food, they will have to check their drinks.

There is also talk of people being charged extra to have bottomless drinks in full fat, so this means PKU's have to pay more for a fizzy drink that doesn't poison them. Even though there would also be alternatives for 'normal' people such as Pepsi Max, 7up free, Coke Zero instead, we cannot have any of these.

To adult PKU's this is another no when they are struggling to find variety in an already restrictive diet and to parents of children with PKU, this is another no that their children struggle to understand.

In the UK supermarkets such as Tesco, ASDA and Sainsbury's they all now have diet drinks that do not contain aspartme and do not contain sugar but contains sweetners such a Stevia, Acesulfame K or Sucralose. If these countrywide companies can do this why can't worldwide companies Coca-Cola & Pepsi do it too?

I believe the main argument for most  who are against the sugar tax is that they are adults who can make their own choices for themselves and their children on how much sugar they consume. With the rise of aspartme drinks this means even more choice is being taken away from PKU's and there are no alternatives.

I think what the sugar tax should be doing is reducing not replacing. If you are going to replace, use a sweetener that doesn't require a warning label on it. Clearly they are aware that PKU's are out there yet they are still using a aspartme.

I've created a list of soft drinks, these include drinks PKU's can have, can't have and used to be able to have but now cannot, this is to show the lack of choices and variety we have. I'm sure I've missed some off but at the moment there is a total 14 drinks we can't have.
There is 11 drinks we cant have, 3 drinks n the used to have and only 6 on my list that we can have, in the list of drinks we can have there is only one diet alternative drink which is Coke Life. Also, since looking further into this, it turns out Irn-Bru and Lucozade used to be drinks that what were available to PKU and now no longer have.

As said in the beginning, I am fully behind the sugar tax but we need to REDUCE NOT REPLACE.
If they want to replace, big soft drinks companies NEED to find alternatives to aspartme.
ALTERNATIVES are out there, and just spending a little bit more extra money to use them means us PKU's can enjoy our favourite drinks.
We are writing to our MP's, we are raising issues with parliament but we need more people to get behind us, to raise awareness so our quality of life can improve. All we want is to be able to have the variety and choices in drinks just like everyone else. PKU is a hard, life long, restrictive diet with no cure. Even though all this seems like one less full fat drink on a supermakert shelf, the taking away of such small simple pleasures; such as a favourite fizzy drink really does make a huge impact on a PKU's emotional and mental wellbeing. 

Please share this, and thank you for listening.

The answer to life, the universe and everything (for PKU's!)

Over the last year I have had meetings with companies that create items for PKU. I have been to the ESPKU conference in Berlin, Germany and there I have met the heads of companies and the scientists of PKU who are fighting every day to get a better quality of life for PKU patients everywhere.

Whether it's making better, 'normal' looking low protein food, developing new innovative tastes for drinks or doing groundbreaking research into the possible idea of gene treatments for PKU.
What I'm always left feeling when I meet these people, is that out there, someone is fighting my corner, that I am not alone in my struggles and that quality of life for PKU's will get better.

However after visiting my metabolic doctor earlier today, I have never felt more alone, in struggle to cope with my diet.

As an adult PKU I find that now my life is stablising, having a job gives me better routine and having a protein substitute drink that I enjoy means that I can cope better with the psychological side of the diet.
However there is one area that I am still struggling with, which is the food. Not cheating on my diet is the biggest struggle I am facing currently. When you go into a McDonald's with your mates and all you can have on the menu is chips, you can't help but want something more, something better, even though that's so much worse for you in the end. It is a real struggle.

The most frustrating thing is I know the solution to this problem.
It's a very simple solution and I know it works for me without a doubt.

The solution is blood monitoring of my phenylalanine levels.

The thing you have to understand with PKU is that the consequence of eating a high protein item is devastating but not instant. 

We do not throw up, our throats do not close up, we do not come up in a rash and we do not die. We slowly but surely get brain damage.
Here lies the problem, when you are sitting in a restaurant with friends or family and the only thing you can eat is the sides, what seriously is the motivation for us with PKU to not have a pizza, or a burger, or pasta? That one day in the future, our cognitive functions might slow down? 

In that moment when you want to just sit down and have a nice meal with your friends. 

You honestly don't care.

For me the only way I know that eating a high protein item has had a serious impact on me at all is through blood monitoring.

And for me, the blood monitoring is the only thing stopping me cheating, as numbers never lie. However, I also know if I have something high in protein it usually takes a week to get that out of my bloodstream. So that means if I want to cheat on my diet but stay under the radar with my doctor, it's as easy as only eating properly for only one week every month. This of course is not what I am supposed to be doing at all. The problem is, it's much easier than sticking to my very restrictive diet.

However, there is a very easy way to change this way of thinking, if the blood test is more regular then there is no time to work the results in my favour.

So I suggested this simple idea with my doctor today. 

I have blood tests twice a month for six months to get into the routine of not cheating on my diet.
And as I have said previously, I know this will work for me because I have done it before.

Ideally a PKU blood phenylalanine level should be between 300umol/L- 700umol/L (600umol/L with the new EU guidelines). 

My level on average is usually around 620umol/L - 680umol/L. Not ideal at all.

When I started doing two blood tests a month to get myself back on my diet at the age of 19, my level went straight down to - 400. The lowest it's been since I was 11. 

So I know this will work.

I ask my doctor about doing two blood tests a month for six months and I said it really helps me and acts as a deterrent to stop me cheating on the diet.
He explained that currently his managers are trying to cut budgets to lower cost and the biggest cost of the PKU section is the blood monitoring, so they are trying to cut this cost down.

Let me repeat the point I made earlier,

For me, the only way that I know, that eating a high protein item has had a serious impact on me is through blood monitoring.

To be told by your doctor, that the one thing that can monitor your metabolic condition, is being cut down due to budget constraints, is incredibly frustrating.

He told me that I can do two every month for 3 months but that we can't really do it for any longer because someone else suffering from PKU could also come in and ask for 3 blood tests a month, so where do we draw the line?

The other major thing about PKU is that every person's condition is different. I have met a lot of PKUs in my 22 years and I never met someone who has exactly the same PKU as me. We all have different tolerances and we all have different needs.

Again, to be told by your doctor that we have to draw the line on what support individual patients can and can't have with their condition is maddening.

So, what is the answer, to the solution of our problem?

Home Blood Monitoring.

Diabetics with type 1 diabetes are recommended that they test their blood 4 times a day.*

The impact that a home monitoring kit would have on PKU life is massive. We would finally have a clear picture of how PKU actually affects us in every day life. 

This means for the fist time we can better control and understand our diet and tolerances. We could see the actual impact of eating something high in protein, if our emotions are all over the place we could see how much influence our blood levels have on that but more importantly than anything else, we would have control. For the first time in our life we don't have to just depend on the one monthly test or the six monthly appointment to get feedback on our diet.

Another important impact of the home monitoring kit will be the positive reinforcement of the benefits of staying on diet. If you have stayed on the diet you can physically see improvement every week, which gives you more hope and confidence that you can continue to stay on your diet and that staying on your diet does make a real difference.

Personally, a home monitoring kit for my blood levels would mean the difference between guessing and knowing.
Knowing that I am healthy.
Knowing that I am in control.
Knowing that every time I choose to stick to diet, it does make a difference.

I am now speaking to all the researchers, scientists and doctors that are currently looking to create a home monitoring kit for PKU phenylalanine levels.
Please know, that this will change a lot of lives for the better.  And those with PKU, please keep fighting for this to become a reality.

*http://www.diabetes.co.uk/diabetes_care/how-often-should-i-blood-test.html

ESPKU conference extras! An interview with the President of ESPKU!

Eric Lange is the President of the ESPKU society and while waiting in the airport for our plane back to London, I was able to ask a few questions! 

Do you or your children have PKU?

My daughter who is 30, has classic PKU.

What was the reason for joining ESPKU?

I joined the UK's NSPKU in 2009 and went to ESPKU conference. It was amazing to meet people from other counties with different perspectives, NSPKU is the oldest association 43 years.

Mainly my interest is in executive functioning, so this really excited me.

Have you ever tried the PKU diet/drinks/food for yourself?

If so, what did you think?

I haven't tried the diet but I've tried all the mixtures except the newer ones. 

I thought I'm glad I don't have to drink them regularly! 

How do you feel the conference went?

Excellent! I wouldn't expect anything less from the ESPKU.

What are you most excited for when you organise these events?

I'm excited for the new speakers and to see how the country reps have done in the last 6 months or a year. It's interesting to see the reps spark off each other in discussions. I thought the video of the undiagnosed is good for the scientists to see, to see that this is the reason we are all here. It's amazing to have the range of speakers and great to have the American PKU's. 

What were you nervous about?

I was nervous about the opening speech, you've got to show everyone you're human!

What do you hope the PKU's got out of the conference this weekend?

They can learn from other PKUs from other countries how they monitor their intake of Phe and that they can learn recipes - although that should be a given! That they can swap ideas what they can do in their own county meetings. I also hope they can create life long lasting friendships. 

I also hope they learn more about the history of PKU! 

What do you hope the parents of the PKUs get out of the conference?

Knowledge and empowerment!

Supporting them with advocating PKU in their local area.

Are you excited or wary about the new potential treatments for PKU?

I'm always excited and I'm always wary!

What words of encouragement would you give a parent with PKU or a person with PKU themselves?

"Don't worry, be happy!"

ESPKU Conference Conclusion

This has been an amazing weekend for me and it's been such a roller coaster ride. From the emotional meeting of the relatives of the people who's discoveries saved my life; to the complex and interesting studies of the potential future treatments of PKU. I have met people that have such passion and love for their families, their patients and for the improvement of their own lives. 

The theme of the conference was building bridges. Many permanent bridges have been built for me, I have made friends with so many wonderful passionate people and I have met many companies who design and produce the food I am eating every day and are always striving for new products. 

At the end of these conferences I like to think to myself, what have I learnt? What will I take from this experience and put it into my life back home?

What I've learnt is that there are people even now still fighting my corner for a better quality of life. I have learnt that even though the low protein food situation in the UK is not ideal, I am very lucky with what I do have and what I can eat. I've learnt that Germany is a beautiful country which I would happily go back to in a second! 

What can I take from this experience?

I can take home the feeling of knowing that I am not alone in this, that there are people who can support me and go through the exact same feelings I do. I've taken home a few more ideas for food and recipes and maybe, just maybe the thought that I can always do better with my diet. There is no more excuses for not eating properly, it just isn't worth it, I will try harder as I know and I've always known it's what's best for me. 

ESPKU Conference, Final day - Part 3

PKU in the next decade

Speaker: Prof. Harvey Levy

The therapy for PKU works to reduce the Phe level in your body.

We are now looking at the two ways of treating PKU, diet and co factor.

Diet

- is the standard response to the disorder of PKU

- it applies to all PKUs

Co factor (Kuvan, PEG-PAL etc)

- usually works on mild/moderate PKU's

- only rarely works with Classical PKU's

European study showed that when PKUs were treated with Kuvan

Very mild PKU's out of 178 tested, 77% were almost certain to respond

Mild PKU's out of 112 tested, 44% around half responded 

Classic PKU out of 267 tested, 6% responded meaning barely any responded.

So what was learnt was Classic PKU's rarely responded and even when they did respond, complete response is very rare. 

Most responders have mild PKU so do not even need treatment to begin with.

PKU treatment in 2025 we can predict: 

- Diet will still be here

- Co factor

 - Kuvan will still be here

- Alternative enzyme therapy - peg pal

- Enzyme replacement therapy - maybe?! 

- Gene therapy - ?

- Gene editing - ?

In more detail: 

Diet

- will it be needed? Properly - some may still prefer diet compared to drugs!

Cofactor (Kuvan) 

- it will be there 

- Will be preferred with those completely or almost completely as this will be the only alternative that can be taken orally, others you'll have to inject. 

But the main point is in 2025 you'll have the choice!

Alternative enzymes therapy 

- will it be available? Yes!

- May be replaced by the real enzyme therapy 

- they may give a form of the enzyme replacement

Peg pal 

Metabolises Phe in a different way, it creates NH3 and trans-cinnamic acid

It does look very promising and will hopefully be approved within the next couple of years

"Real enxyme therapy"

Like current treatment for the lysosomal disorder - gaucherie disease 

It will reduce the phenylalanine hydroxylase 

The problem is phenylalanine an unstable enzyme outside of the body.

They have not yet been successful in stabiling it outside the body, so it can not be put into a test tube so it can be replicated and injected into the body. 

In the next few years it could be stabilised to then it could be replicated and fabricated.

So what will happen is the future is that we'll be able to replace the mutated enzyme with a working enzyme.

Gene therapy

It's been talked about for 20 years, but there is still no ability to replace the mutant gene 

- There will still be no safe gene therapy 

- It has to produced as a virus so w have to know it is safe before we do it 

- it is Improbable this will be there in the next 10 years

PAH gene editing

This is an exciting prospect!

This can be used for editing the gene mutation in the body by putting it back to the normal state. 

This process is called CRISPR. 

The process of this that is a nucleus that cuts into the gene. The NRA guides the cutting protein to the proper portion of your DNA where the mutation is located in the DNA it then allows the nucleus to cut into that point it separates the double DNA then it injects the normal base into your DNA. You change the abnormal mutation in the gene into a normal gene. 

If you imagine it is like editing a book, you are replacing one letter in a whole book to make the book work.

Will it be available in 10 years time?! Maybe!

2025

- Diet will still be present

       - for who? The first 2-4 years diet will still be on diet.

       - adolescent and adult years will be trying out alternative therapies

- Enzyme gene therapy 

       - Will not be used in the first years of life.

       - After ages of 2-3-5 therapy can be used.

Gene editing if it is safe and effective then it can be used by everyone of all ages!

"50 years I have been involved I've never seen a more exciting time for the treatment for PKU."

What really excites me about all these talks about the future of PKU, isn't just the potential of new treatments, the personalisation of the diet and the growing of social media to reach new people and different counties. It's the fact that these scientists, dietician and other professionals are still working hard every day to make a better life for PKU's. They aren't giving up, they aren't just happy with an 'okay' diet. They want the best for us and they are always looking for new ways to make our lives that little bit easier. Most importantly they have given me hope, hope for the future and hope that maybe one day I will be able to live my life everyday without worrying about my next meal. 

ESPKU conference, Final day - Part 2

Prof. Rani Singh: 

What will change in nutritional management in PKU?

What does the future hold?

Nutritional therapy and adjective therapies (kuvan, Peg-PAL etc)

"Let they food be thy medicine, thy medicine be thy food" -Hippocrates 

It is important to remember that no matter how many drugs come in the future, diet will still be the most important thing.

Some roles of groups and sciences in development of nutritional management of PKUs:

- Medical science/laboratory science

- Food science/laboratory science

- Nutritional science/dietetics

The lessons that have been learned over the years:

Initiating screening early 

Life long diet is necessary

Deficients 

There is a lack of adequate supplement with vitamins and minerals in medical foods for infants, this is an issue that still needs to be dealt with.

The PKU diet is proven an effective treatment, but what health risks persist?

- weight gain/obesity 

- bone mass reduction

- nutritional problems

- neurocognitive deficits 

- growth retardation

- Neuropathy 

The prediction for the future is that we are going to see a more personalised diet for each individual PKU.

As a PKU and a consumer of the products our challenge is:

- do we know our diet?

- do we know what our food and amino acid drinks contain? Are we lacking in vitamins?

- we should be challenging our dietician to look at our diets and telling us what is missing

It's important that diet is personalised so we do the get nutrients that may be missing from our diet if we do not eat the correct things.

We need to focus on the gut as well as the brain.

In the future when choosing a medical food and personalised therapy it becomes very exciting and critical to PKU's wellbeing

The dream is one day is that we will have global guidelines! 

Social media empowers us to question our diet and lives compare to others around the world. 

The main point is even though lots of drugs come out, don't forget how important the diet is. 

ESPKU conference, Final day - Part 1

After sleeping in (oops!) and scoffing down even more sausages for breakfast, we went to the final meetings of the conference. The main theme being the future of PKU, where will it be in 10 years time?

Phenylketonuria - Pathogenesis driven treatment strategies

Speaker: Pro. Dr. Francjan van Sponsen

The future of PKU

in the future they are looking at more Pathogensis driven PKU treatment. It was agreed from the research that the diet is amazing, and it should not be forgotten that PKU is the first metabolic disorder that is able to be treated with a diet to help stop mental retardation. No other metabolic disorder had been treatable before PKU. 

However, are we just satisfied with the diet?! The answer is no!

The issues with the diet are:

- There are still problems with IQ and EF 

- The behaviour and social aspects

- the quality of life is still poor for some PKUs

- Bone density is still a problem

- with the elderly we still do not what will happen in the future!

- with young adults there is still a lot of issues and the diet is very socially demanding.

Other treatment options.

All the alternative treatment being studied now are focusing on the blood concentration of the Phe in the blood, but not towards the brain. With PKU we question why is the brain the only organ affected, the only symptoms and signs of PKU are in the brain. 

However, what is really confusing is that there are some untreated PKU's out there who do not suffer any brain damage, even though they've been on a high Phe diet all their lives. We are still not sure why this is. 

Blood Brain Barrier (BBB)

We know the amino acids travel up the spinal fluid and when it gets to the blood brain barrier, it stops too many amino acids getting through to the brain. However the problem is because there is already too much Phe in the brain, the Phe gets through the BBB but no other amino acids can, creating the side effects some PKU's feel (concentration problems etc.) because the white brain matter is disturbed. 

Trying to find the correct treatment

There are three ways of treatment

- Myelination

- Neuromatter synthsesis

- Brain protection by nutritional compounds 

Myelination

We know these things:

Lowering blood Phe - lowering brain Phe

Lowering blood Phe - increasing other Large Neutral Amino Acid (LNAA) 

Brain neurotransmitter 

This is the same as myelomation, we know: 

Lowering blood Phe - lowering brain Phe

Lowering blood Phe - increasing other LNAA

By giving BH4?

Giving more BH4 gives the brain more protection by lowering the blood Phe, it then lowers the brain Phe. 

Brain protection by nutritional compounds 

This is protecting the brain Phe levels by having a low Phe diet.

BH4 works on the Phe but not on all patients, it only works on around 30 - 40%.

And unfortunately peg pal is not being studied in Europe yet.

At the moment all research is based on:

Knowledge of yesterday 

Facts of today

Dreams of tomorrow 

What I've really found fascinating with my PKU experience is the older I get the more I am learning about what PKU is, not just a diet and a drink to have every day but a genetic disorder that affects my body in different ways at a cellular level. It's so wonderful to come to these conferences and learn even more about the science behind PKU.