the nsw pku journal autumn 2010 · phenylketonuria in 1961. in the mid 1960s, clive, another father...

The NSW PKU Journal Autumn 2010

The NSW PKU Journal

Autumn 2010

Inside this issue:

Presidents Piece 2

John Christodoulou -

Order of Australia

Clive George Colyer -

Life Member

3

3

PKU Research Update 4

Rotary Fundraising

Upcoming Events

Contact Details

5

5

5

Vodafone World of

Difference Program

6

ESPKU Oonference in

Turkey

7

My Story Competition

Pinnacle Low Phe Bread

Mix

8

8

NPKUA Conference.

America

9

Low Protein Products 10

To promote awareness of PKU:

- by providing information and support to families affected by PKU;

- by actively re-establishing contact with adults who have PKU and do not attend the

Adult Metabolic Clinic;

- by supporting research, including fundraising for the purpose of research into the

treatment of PKU; and

- by lobbying Government bodies where appropriate.

MISSION STATEMENT

The PKU Association of NSW Inc.

PKU Awareness Day Saturday 1st May

Come join us in Parramatta Park from

11.30am to 3.30pm Saturday 1st May on PKU Awareness Day. We will be

meeting at the top of the park at the Westmead Entrance near Queen Street. Bring a picnic lunch, your blanket, wear

something blue for PKU and enjoy a relaxing afternoon with us .

ABN 78 410 895 701

The NSW PKU Journal 2 Autumn 2010

Dear all,

I trust your Christmas and New Year Holidays were relaxing and enjoyable.

We were saddened to learn late December that Clive Colyer, a co-founder of the PKU

Association passed away. Clive and Jill Colyer have been pivotal in the awareness of

PKU since their daughter Debbie was diagnosed with PKU back in 1962. Our thoughts

are with the Colyer family and our appreciation to Clive for all he set in motion for the

PKU community of Australia.

Also during the month of December were the PKU Christmas Parties in both Dubbo

and Stanwell Tops. Many thanks for all who attended on the day. The events were

superbly organised and provided a great day out for family and friends.

As we welcome in a new year/new decade, we are very pleased to hear of Professor John Christodoulou was in-

cluded in the 2010 Australia Day Honors. John was awarded Member of the Order of Australia for service to hu-

man genetics, particularly the metabolic disorders of children, as a researcher and clinician.

On the topic of research, we have heard that local PKU Research has progressed successfully. As you'll read in our

first newsletter of the year or within our new "research blog" on the NSW PKU website, Professor John Christo-

doulou from the Children's Hospital of Westmead has made exiting inroads into his PAL Probiotic Therapy. I won't

attempt to explain what that is but would encourage everyone to read the update to bring you up to speed with his

research. The exciting news surrounding his research is that he has reached a milestone where his therapy can

now progress to clinical trials on the infamous PKU mice.

As with all research, the process involves brainpower, time, patience and funding. We are very fortunate to have a

Research team blessed with the first three attributes. What they lack, and where we the PKU community come

into the equation, is the funding. For John to proceed with purchasing and establishing the PKU mice colony, it is

estimated that a target of approximately $95,000 is required.

Families within the PKU Community as well as the committee of the NSW PKU Association are committed to rais-

ing these funds as soon as possible. We are very grateful that one family within our association has kicked off our

Research fundraising target with a cornerstone donation of $10,000. We are also extremely fortunate that this do-

nation has been matched by Westpac as part of their employee “Matching Gifts” programme. If there are other

families who would like to make donations to the research fund or any other event associated with the Association,

please feel free to contact our Treasurer Tony Morris.

You will have by now received your 2010 subscription notice relating to the Association. Over the Christmas break,

Tony Morris and Remona and Geoff Mortimer have been setting in motion a simpler process to allow our members

renew their subscriptions. Pivotal to this process is the introduction of a Members area on the PKU Website. I en-

courage everyone to log onto the website and update your family profile. We will also be using this space to share

important messages with our members in the future as well as a depository for our current and past newsletters.

In this month‟s newsletters you‟ll read about exciting trips and events attended by members of the PKU Commu-

nity. Remona and Josh Mortimer were fortunate to attend the European PKU Conference in Turkey and Debbie

Colyer, the Inaugural NPKUA Conference in Dallas as part of her World of Difference Program.

Debbie Colyer will also give us an update on the Vodafone World of Difference Programme which is now entering

its final Quarter.

The committee recently met to conduct our 2010 annual General Meeting where a Fundraising Charter was ta-

bled. This Charter aims to help the PKU committee, its members and friends pull resources together to raise

money for the Association, our major events (PKU Kids camp, Adult retreats) and PKU Research. Please take the

time to read this charter and contact the committee should you wish to organise a fundraising event.

Finally, PKU awareness day will soon be upon us. We will be having a picnic lunch from 11.30am to 3.30pm in

Parramatta Park. Bring your blanket and a picnic and enjoy a relaxing afternoon with us.. It would be marvelous

if we can get a strong response on the day. For those of you, who can‟t make it to Parramatta for the event, please

contact Remona or myself to ensure you get all the support and help in maximizing the publicity of your event.

Andrew

President’s Piece


Clive George Colyer

1931 to 2009

Clive was the father of the first child born

in Sydney who was diagnosed with

Phenylketonuria in 1961.

In the mid 1960s, Clive, another father of

a PKU and an uncle of a PKU decided to

form The PKU Association of NSW .

They were hard days, there was very

little interest and no support, so The

Association remained dormant for several

years.

Clive was very proud to have been

made a Life Member of The PKU

Association of NSW in 2003.

Life Member of

The PKU Association of NSW

Am for service to human genetics,

particularly the metabolic disor-

ders of children, as a researcher

and clinician. When John Christo-

doulou started his specialist

career 25 years ago, children were

referred to him only after they

had developed often devastating

symptoms of genetic disease.

Now, says the director of the

Western Sydney Genetics Pro-

gram, we‟re picking up most of

these babies before they‟re des-

perately sick. There‟s no doubt

this leads to much better pros-

pects for these kids.”

Thanks to the fully sequenced

human genome, scientists such as

Professor Christodoulou, who is

honoured today as a Member in

the Order of Australia, can char-

acterise DNA anomalies that

cause disease.

“You can start to understand the

biology of the disorder. You can

start to use rational therapies,”

says Professor Christodoulou,

who in 2004 led an Australian

team that identified a gene impli-

cated in Rett syndrome, a severe

degenerative disease affecting

only girls.

Julie Robotham

SOURCE: The Sydney Morning

Herald

Order of Australia, John Christodoulou


PKU Research at the Children’s Hospital at Westmead

Update: January 2010

We had a busy year in 2009, and continue to make steady progress in our PKU research activities.

PKU Gene Studies:

We continue to offer screening of the PKU (phenylalanine hydroxylase; PAH) gene to any of the patients we see in

our clinic. PhD student, Gladys Ho, is performing this work. We anticipate that by identifying the combination of

mistakes (mutations) in the PAH gene, we will be better able to predict the level of dietary restriction that will be

needed. In addition, there are some mutations that allow us to predict that some individuals (perhaps up to a

third of PKU patients currently on diet) will be responsive to the essential cofactor, tetrahydrobiopterin

(BH4). This is important information, because once BH4 becomes more easily available in Australia, we will be in

a position to identify those individuals who are likely to be BH4 responsive for immediate access to it.

On that front, we understand that the company trying to get BH4 approved and licensed in Australia submitted a

formal application to the Federal agency responsible for reviewing such applications in December, and we hope

that it will approved in the first quarter of this year, although there is no guarantee about this at present.

So, if you or your PKU child has not had genetic testing done yet and would like this to be done, please discuss

this with your PKU doctor. The genetic testing is available as part of a research project based at the Children‟s

Hospital at Westmead. We have information sheets and consent forms to become involved in this research, and

we are happy to make these available to you through your PKU doctor.

Progress in the Development of a PAL Probiotic Therapy:

Readers will recall from previous newsletters that we have been working on a new therapy for PKU, namely the

provision of an alternate enzyme, phenylalanine-ammonia lyase (PAL) that is able to break down excess amounts

of phenylalanine. A combined research effort in Canada and the US has developed a chemically modified form of

PAL that is delivered to patients by regular injection. Whilst this is a great step forward in the development of a

novel treatment approach to PKU, our view is that for many individuals regular injections (it is not clear at this

stage how frequently the injections will need to be given) of the PAL enzyme would not be acceptable.

Our approach is to create a genetically modified (GM) probiotic to produce PAL. This PAL could then be delivered

through a regular oral drink of a Yakhult type of preparation. If it works, phenylalanine released from dietary

protein in the intestine would be broken down before it is even absorbed into the bloodstream, and this should

translate to improved protein tolerance with better control of blood phenylalanine levels.

With the generous support of a research grant from the Australian Rotary Health Fund (sponsored by the Rotary

Club of Pennant Hills), and financial support from the Rotary Club of Liverpool (Greenaway), we have been able

to develop this idea. We are pleased to report that we now have working PAL being made by a probiotic called

Lactococcus. We are currently making adjustments to the genetic regulatory machinery so that we can maximize

the efficiency with which PAL is produced by the Lactococcus probiotic.

The next step will be to test out our new PKU therapy in a PKU mouse. There is a commercially available mouse

that has a severe mutation in the mouse version of the PKU gene, which in turn results in very high blood

phenylalanine levels. There are significant costs involved in importing the mouse to Australia, establishing a

PKU mouse colony and then performing the trial of the GM Lactococcus. Unfortunately, at present we do not

have the funds to establish the mouse colony and perform the therapeutic trial, and so we are currently unable to

progress to the next stage. We are currently in the process of trying to obtain additional funding from a number

of sources, and if successful in our fundraising activities, we will be able to perform the initial mouse studies over

the next 12 months.

PKU Research Update


Contact Details President: Andrew McDonald

Phone: 0437 592 870

Email: andrewianmcdon-

[email protected]

Secretary: Bobbi Bergman

Phone: 02 4294 2111

Mobile: 0429 400 253

Email: [email protected]

Treasurer: Tony Morris

Phone: (02) 9613 8609


Postal Address:

PKU Association of NSW Inc.

28 Griffiths Street

Ermington NSW 2115

Public Officer: Debbie Colyer

Phone: (02) 9498 6549

Mobile: 0420 978 872


Editor: Vanessa Towers

Phone: 0407 264 332


Website: www.pkunsw.org.au

2010 Calendar

Tuesday 9th March marked the 4th Annual Rotary Club of Pennant Hills Charity

Golf Day. As with the past four years, proceeds raised during the day go towards

PKU Research at the Children's Hospital Westmead. Held on the pristine Pennant

Hills Golf Course, 90 players set off on a beautiful day to enjoy a full round of golf

on one of Sydney's Premier Golf Courses.

The players were challenged with the usual competition events Nearest the pin,

longest drive etc, however for some, it was the only time they ventured on to the golf course every

twelve months. Naturally for the later player category, the drinks cart ensured a enjoyable day.

Retiring to the 19th Hole, A charity auction was performed in which a variety of Electronic goods and

sporting memorabilia went under the hammer. Golf Prizes and Raffles were drawn allowing those who

were staying for the evening BBQ settle down with family and friends for an enjoyable meal.

Many thanks to the Pankhurst Family and the Rotary Club of Pennant Hills for organising events.

Additional thanks to our regular sponsors, donators of prizes, PKU families and those players attended

for making the day a wonderful success.

Although too early to confirm, it is believed close to $20,000 was raised on the day. These funds, to-

gether with other funds raised from previous fund-raisers, will be submitted to the Rotary Health

Foundation where the amount will be doubled.

Annual Rotary Club Charity Golf Day for PKU

20th April

Committee Meeting, 6.30pm Bankstown Sports Club

1st May

PKU Awareness Day

18th August

Entries for the „My Story‟ competition closing date.

Please see page 8 for all the details on how to enter and win an IPOD

Touch.

Monday 4th - Friday 8th October

National PKU Youth Camp

Please note that the dates have changed due to the unavailability of the

venue at Narrabeen. Any queries please contact Meredith Morris on

02 9613 8609

23rd October

2nd Gala Dinner for PKU, Dural Country Club

Help us 'Stamp Out' postage expenses

The next time you pop down to the Post Office to buy a

book of stamps for your Guthrie cards, why not buy an

extra book for PKU?

Each year the Association has postage expenses of up

to $500 (excluding the PKU Journal postage) and we

would love your help to keep this cost down!

If just 50 of our members each sent in a book of 10

stamps (valued at $5.50) we would halve our bill and

be able to direct these funds more important things

like research and the National PKU Youth Camp!


I applied for the Vodafone Foundation World of Difference Program in January 2009 as I always have

had a passion for making life better for individuals and families who are living with PKU on a daily ba-

sis.

In April 2009 the CEO of Vodafone, the Head of Vodafone Foundation and my boss came to me with the

wonderful news that I had been selected out of 800 applicants all across Australia to be selected for the

Vodafone Foundation World of Difference Program. I was the first person who has worked at Vodafone

to be given this wonderful opportunity to work for my favourite charity which in my case is PKU.

In April our charities were invited with all of us to attend the induction and the two days workshop to

get an idea of how the program worked. I was selected with John Parr from St John‟s Ambulance in

Queensland, Ross Onley-Zerkel from Deaf Can Dance in Melbourne, Ania Sobeysk from Dreamfit or-

ganisation in Perth, and Ronni Kahn from Oz Harvest in Sydney who was awarded the local hero award

on Australia Day. I have been lucky to have met such wonderful people who are an inspiration to their

charities. We met the people from the previous year‟s World of Difference program, listened to their

presentations, had some social time and then we sat down to plan our KPI‟s and had our photos taken

in the park with champion surfer Layne Beachley which was amazing!

We have travelled to workshops in Brisbane, Perth and just recently Melbourne with the final workshop

being held on the 21st, 22nd of April which will be sad to finish the program. We have been creating

awareness for our charities amongst the Vodafone employees in each of these cities.

During my year I have set up a PKU trade table for the 2009 PKU Awareness Day on the 1st May at

The Children‟s Hospital, Westmead which was a great start for the year. On the 31st July the PKU As-

sociation Newborn Welcome pack was launched at The Children‟s Hospital, Westmead followed by the

PKU teen/adult trivia day at the Diabetes Centre at Westmead.

I enjoyed attending a couple of conferences, one was the ICIEM conference in San Diego which was

wonderful and recently in January this year was the NPKUA conference in Dallas, Texas. I had a great

time networking with individuals, families and medical professionals, creating awareness, making new

friends, growing from knowledge and gaining from the wonderful opportunities that these conferences

bring. I have been finding information out about the new metabolic clinic that is scheduled to be avail-

able to the PKU adults in the near future.

I have been doing several interviews with a few PKU adults, a husband, a PKU parent, a medical pro-

fessional both here in Australia and overseas. Interviews that I have done with Kate Buckland, Ed

Buckland, Jill Butler, and a scary one of myself can be found on you tube.

The PKU Adults were sent out a questionnaire three weeks ago to fill out. I have 14 of them back so far.

On Monday 22nd March, my mother and I have an appointment with

Mr Barry O‟Farrell leader of the NSW opposition party in the morn-

ing and our local member Mr Paul Fletcher in the afternoon.

On a sad note during this year my father was diagnosed with aggres-

sive lung cancer and passed away just before Christmas.

The year has gone so fast and has been so exciting to have such a

wonderful experience. I would love to thank firstly Vodafone founda-

tion World of Difference Program for giving me the chance to live my

dream! The PKU Association of N.S.W Inc, MDDA, Dr John Christo-

doulou, Rosie Junek and all the staff at The Children‟s Hospital at

Westmead, Mary Westbrook and the staff at the diabetes Clinic, Vi-

taflo and Nutricia for all your continue support.

Debbie Colyer

The information sought by Debbie Colyer and findings will

be published in the next newsletter

Vodafone World of Difference Program


Remona and Josh

The two day ESPKU conference in Antalya,

Turkey, where we hoped to meet other PKU

families seeking similar opportunities, is

where our journey began. At the conclusion of

the conference, Josh and I set off to learn

about Turkey and experience the PKU diet

outside the „comforts of home‟ as travellers.

Negotiating the west coast of Turkey, from

South to North, our plan was to: encounter the

mysterious flames of Chimera and ancient ru-

ins along the Lycian Trail of Olympos; enjoy

the Mediterranean beauty of the coast in

Fethiye; take in the ancient city of Ephesus

and traditional Turkish culture in Selcuk;

Our Turkish Experience

to arrive in the bustling city of Istanbul a week later. All while maintaining a little-heard-about diet,

sourcing suitable foods, carting around kilos of PKU Cooler and overcoming language and cultural barri-

ers. Our reward at the finish line? Knowing first-hand that PKU, like many challenges, has opportuni-

ties to offer. If you reach out and grab them they can turn into life-changing experiences. Knowledge

that I hope gives Josh something positive to focus on when he feels down about having PKU. Now, and

for the tough times to come.

Coming into this experience we were aiming to achieve goals in three main areas: learning and sharing

information relating to the management of PKU; active participation in the global PKU community; and

exploring the opportunities for personal growth and development for our son Joshua.

Josh and I return home with a refreshed understanding of different aspects of PKU, new questions for

us to think about, new friends to keep in touch with, the satisfaction of becoming involved with an

ESPKU book initiative, and a wonderful story to tell about how at just 7 years old, not only did Joshua

go to Turkey, but he opened his heart to learning about the country, its people, its landscape, it‟s food

even some of its language. Josh proved to be an easy traveller who always had his eyes wide open and a

smile on his face. It was a time that we will both look back on fondly knowing that together we achieved

a great feat...busing our way 900kms from the conference in Antalya to ancient Olympus, idyllic Fethiye,

historic Selcuk and, finally, bustling Istanbul - all in just 7 days. And it‟s because Joshua‟s personal

journey through life includes PKU that Turkey ever came within reach!

Thanks ASIEM & Nutricia for funding the international travel grant. I hope future recipients benefit as

much from it as we have.

Remona & Josh

ESPKU ‘Living with PKU’ book

During the conference Josh and I were invited to be involved in an initiative of

the ESPKU which involved joining others in telling our story through informal

interviews. The ESPKU has collated these articles into a book called ‘Living with

PKU’. And we were very pleased to be a part of it.

‘Living with PKU’ Excerpt:

Remona: It’s not just a matter of being positive, although a positive outlook

really helps. We talk a lot about choices... choosing to make the most of different

situations, but at the same time not underplaying the difficulty of adhering to the

diet. It is hard for Josh, but it is because he makes good choices that he can en-

joy being a happy, healthy kid. And he gets that.

STOP PRESS PKU YOUTH CAMP DATES HAVE CHANGED Due to the unavailability of the venue at Narrabeen the camp dates have

changed. The new dates are Monday 4th to Friday 8th October 2010.

Please contact Meredith Morris if you have any queries, 02 9613 8609


Your story should include:

1. Name, Age, Address,

Email, Phone

2. A little bit about me...

3. A little bit about my family

4. What I am really interested in

is...

5. When I was little I...

6. When I am older I look for-

ward to...

7. If I was to serve a PKU meal to

my friends I would cook them...

8. The biggest way PKU impacts

my life in a positive way is...

9. The biggest way PKU impacts

my life in a negative way is...

10. Good ideas I have come up

with to make PKU easier or more

interesting to manage...

Terms & Conditions

Submissions should be no

less than 500 words and no

more than 2000 words in

length.

Final date for submission is

18th August 2010. Winners

will be notified by Email,

Post, or Telephone

Entrants must be a current

member of The PKU Associa-

tion of NSW Inc. (or child of a

member).

There are no age restrictions,

judging will take age into

consideration.

Entries should be in English.

By entering this competition

you give permission for

PKUNSW to publish your

story on the website and in

the PKU Journal.

Competition prizes cannot be

redeemed as cash.

The decision on all matters

relating to the competition is

final, and no correspondence

will be entered into concern-

ing the competition's judging.

We want to hear your story so

we have found a generous sup-

porter to provide a prize for our

„My Story‟ competition.

Write an article about yourself

that answers the questions be-

low and you could win an IPod

Touch 8GB.

Entrants will have their stories

published in the PKU Journal

and website!

The first 5 entrants received will

receive a copy of „Living with

PKU‟ a collection of stories from

people with PKU.

Email your submission to

[email protected] or

post to „My Story‟ Competition:

18 Aquamarine St Quakers Hill

NSW. 2763 by 18th August

2010 for your chance to win!

Good luck!

Sharing Your Story could win

you an IPod Touch!

Pinnacle Low Phe Bread Mix $50.00/5kg box for all members (plus postage & packaging costs)

Delivered to you by Parcel Post at a cost of $7.50 for up to 20kg within the

Greater Sydney Region (Wollongong to Blue Mountains to Central Coast) OR

to the rest of NSW at $10.75 for 1 box, $13.50 for 2 boxes or $16.50 for 3

boxes. (Consider ordering enough for 3 months until the next newsletter).

For other states and NT, or if you‟re not sure which zone you are in NSW,

please phone Meredith on (02) 9613 8609 or email chameleon-

[email protected] for the postal charges or to arrange payment by inter-

net banking.

If you wish to place an order within NSW, please send a cheque or money

order (for the number of boxes plus postage) made out to The PKU Associa

tion of NSW Inc. and post to:

Meredith Morris, 28 Griffiths Street, Ermington, NSW, 2115

mailto:[email protected]


My trip to the NPKUA conference from 15th January – 17th January

There were 350 people who travelled to Texas from all over the U.S, Canada and Australia making this conference the largest

PKU conference ever to be held in the U.S.

The NPKUA High Hopes conference commenced at 2.00pm on Friday 15th January where we all met each other, enjoyed drinks

while visiting with the sponsors and exhibitors, learning about the latest treatment options and products for managing PKU.

We were treated to a Mexican buffet dinner where Dick Michaux the president of the NPKUA welcomed us to the High Hopes

Conference.

Paddy Guthrie presented Dr Robert Guthrie‟s legacy - The Guthrie Test (locally known as the Newborn Screening Program).

When Paddy‟s father wasn‟t away travelling the world, Paddy remembers that most of the topics at dinner were about PKU.

Collaborative efforts, personnel pain and dogged determination are often the components behind scientific breakthroughs. Such

is the story of newborn screening, which began in the USA in 1961. Dr Robert Guthrie‟s singular mission was to ensure any

child born with PKU anywhere in the world, had an equal chance for a healthy life . The history of PKU to me is very personal

as back in 1961 I was diagnosed by the wet diaper test, not until I was 2 years old.

Having PKU myself I am interested in nutrition which was presented in one of the breakout sessions. Laurie Bernstein spoke

about making healthy choices in what we eat especially ensuring we eat a good balance of fruit and vegetables.

Dr Rani Singh PHD, LD, RD, is the Associate Professor of Human Genetics and Pediatrics and Director of the Genetic Metabolic

Nutrition Program at Emory University in Atlanta Georgia. Rani spoke about nutrition, protein, carbohydrates, and body

weight analysis of vitamins and minerals. There are 600 different PKU mutations known today. An individual with classical

PKU can have from 150mg to 200mg of protein a day. The daily supplement helps with the phenylalanine hydroxylase conver-

sion of phenylalanine to tyrosine in people with PKU. The supplement is essential for ensuring good protein synthesis in the

body and a healthy lifestyle.

Denise Ney PHD is the Billings Beacon professor of Nutritional Science and a Waisman Centre investigator at the University of

Wisconsin , Madison. Denise presented on foods made with Glycomacropeptide which are reported to improve the PKU diet.

Glycomacropeptide (GMP) is a natural protein produced during cheese making. GMP contains no phe and has high concentra-

tion of large neutral amino acids (LNAA). A variety of high protein, low phe foods can be made with GMP such as beverages,

pudding, crisp cereal or a snack bar to improve the taste. GMP has been proven to be safe and healthier than the low protein

products and synthetics formulas that we have now and more palatable. People who have sampled GMP products have reported

reduced blood phe levels. Cambrooke Foods in the U.S has started to put GMP in some of their products including a formula

called Camino pro. In Australia we have companies that could develop products in the near future with whey protein.

Dr Barbara Burton MD is a professor of Pediatrics at the Northwestern University Feinberg School of Medicine. Clinical Prac-

tice Director in the division of Genetics. Barbara spoke about new treatments for PKU. Kuvan (Sapropterin - pharmaceutical

term for BH4 or tetrasydrobiopterin), the investigation drug Peg Pal (pegylated phenylalanine ammonia lyase) and the home

blood phenylalanine (phe) monitor

Kuvan was approved in the U.S in December 2007. It‟s aim is to lower blood phe levels in patients with BH4 responsive PKU up

to about 30%. It was reported that about 50 percent of people with PKU will

respond to Kuvan. As Biomarin were eager to get there product on the market

they haven‟t kept a record of the mutations that have responded to Kuvan. Pa-

tients with moderate and mild PKU are reported to more likely to respond than

those with severe Classical PKU. Dr Christodoulou has been working on getting

Kuvan into Australia.

Another drug is Peg Pal. Pal is an enzyme that is found in plants, bacteria and yeast but not normally present in humans. It

breaks down phe in a different way than phenylalanine hydroxylase PAH. In an animal model of PKU, it was effective in con-

trolling blood phe levels because it is a foreign protein. Due to its administration by injection, there is a possibility that humans

would develop antibodies to the drug, either reducing its efficiency, causing allergic reactions or both. Peg Pal is now in stage 2

clinical trials as it is proven safe to use.

U.S Company Biomarin is working on a home monitoring device which will be available at the beginning of 2011. The home

monitoring device will be similar to those used by diabetics. I am really excited about this as it will make taking blood so much

easier. This device would be so useful to everybody with PKU worldwide.

Kathryn Moseley MS RD Leading Metabolic Dietician and also Assistant Professor of Pediatrics at the Keck School of Medicine

at the University of California spoke about the successful treatment of using Large Neutral Amino acids (LNAA) in late diag-

nosed people with PKU. These individuals were born before screening and were put in state institutions until recently when

Kathryn and her team fought to have the selected patients released from the state institutions and put into a group home where

they started the LNAA treatment. A true success story!

Susan Weisbren PHD serves as the Associate Professor Psychology in the department of Psychiatry at Harvard Medical School

in Boston Massachusetts. She spoke on neurocognitive functioning in PKU. Susan paid tribute to the parents of the two children

in Norway in 1934 who pushed the doctors for a diagnosis, also Pearl Buck, and mothers from the early generation which didn‟t

give up and fought for a diagnosis. Even treated PKU people experience neuropsychological effects. Psychological assessments

are important to have at all ages. She spoke about the working memory, the dopamine hypothesis, etc.

The NPKUA recognized all the work that Dr Koch and Dr Charles Scrivener have done for PKU. Dr Koch and his wife Jean are

great friends of mine. He and Charles Scrivener are loved by the PKU community. When Dr Koch walks into a room he gets a

rock star reception. At the time Dr Koch accepted his award he said that he would like three of his women to come up onto the

platform, the first one of course was his wife Jean, the second person was Kathryn Moseley who is a really amazing metabolic

dietician and like a daughter, and then I was called up which has to be the proudest time of my life! I was so touched and

moved.

I really love to attend PKU and metabolic conferences as I love to grow as a person from the knowledge I gain. Thanks to Chris-

tine Brown, the committee and everybody I met in Dallas. It is an experience I will treasure always. I really love working with

you to make a world of difference for PKU. Please feel free to e-mail me for the full version of the article

Debbie Colyer

U.S. company Biomarin is working

on a home monitoring device similar

to those used by diabetics for people

NPKUA Conference, America


Smooze

Fruit Ice

Coconut & Mango 0.4g

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Coconut & pink Guava

0.5g protein per 100g

In Bi-Lo Supermarket

Bonvita

Rice Milk Chocolate

White Chocolate 0.0g protein per 100g

Milk Chocolate 2.0g protein per 100g

from Vegan Perfection

www.veganperfection.com.au

03 9398 6302

"Everybody Has Something" is a book about differences.

It features pictures of real kids with real issues like cavities,

cancer, braces, hearing aids, and features the author's son

who has PKU. It's purpose is to introduce diversity, nurture

self esteem, and promote acceptance of all people.

"Everybody Has Something" is written for the young reader

and appreciated by everyone.

Everybody Has Something

Margaret Domnick

Low Protein Food

the nsw pku journal autumn 2010 · phenylketonuria in 1961. in the mid 1960s, clive, another father...

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