The NSW PKU Journal Spring 2010 The NSW PKU Journal Spring 2010 Inside this issue: Presidents Piece 2 Fundraising Corner Roll of Honour 3 3 Meet the Research Team 4 Adult Metabolic Clinic Progress Update Contact Details Pinnacle Low Phe Bread 5 5 5 A Note from Kerri-MDDA IEM Grant Update 6 6 Adult Health Care Update 7, 8, 9 New Idea Article from 1962 provided by Deanne Owens 10, 11, 12 Youth Camp 2010 Introducing Malcolm 13 Camp Photos 14, 15 Christmas Party 2010 16 Winner My Story Competition Runner Up 17 18 Ruuner Up My Story Competition 19 Choices Gluten Free Products 20 New LP Products 20 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. ABN 78 410 895 701 PKU Youth Camp 2010
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The NSW PKU Journal Spring 2010 - PKUNSW · The NSW PKU Journal Spring 2010 The NSW PKU Journal Spring 2010 Inside this issue: ... The 1st prize went to Tony Murray of North Richmond.
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The NSW PKU Journal Spring 2010
The NSW PKU Journal
Spring 2010
Inside this issue:
Presidents Piece 2
Fundraising Corner
Roll of Honour
3
3
Meet the Research Team 4
Adult Metabolic Clinic
Progress Update
Contact Details
Pinnacle Low Phe Bread
5
5
5
A Note from Kerri-MDDA
IEM Grant Update
6
6
Adult Health Care Update 7, 8, 9
New Idea Article from 1962
provided by Deanne Owens
10, 11,
12
Youth Camp 2010
Introducing Malcolm
13
Camp Photos 14, 15
Christmas Party 2010 16
Winner
My Story Competition
Runner Up
17
18
Ruuner Up
My Story Competition
19
Choices Gluten Free
Products
20
New LP Products 20
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. ABN 78 410 895 701
PKU Youth Camp 2010
The NSW PKU Journal 2 Spring 2010
President‟s Piece
Welcome to the Spring Edition of our Associations newsletter. With many
messages to share with our members, this is a bumper edition. At the
time of Publishing the 4th PKU camp is over. Having spent a few days
visiting the kids on camp, it was great to see them all having fun and
participating in new challenges. We will have a full report on the Camp
in our next newsletter.
The main focus of the Spring Newsletter is to increase the awareness of
the Adult Health Care. Upon permission from the MDDA, we are repro-
ducing several articles and key messages relating to Adult clinic from
their Issue 43 Edition. We have also included the official IEpM Grant
Update for your reference.
On the research front, it is with great excitement to share with you all that the colony of PKU
Mice, to be used for Professor Christodoulou‟s research, have arrived in Australia and are set-
tling into their new surroundings. Professor Christodoulou writes: “We got 9 females and 10
males. They need to become acclimatised and then start doing the thing that mice do (breed!!),
so we can build up the colony. We hope to have it established well enough to be able to start the
experimental work at the beginning of next year.” As we move forward in this exciting stage of
PKU research, we invited Professor Christodoulou and his research team to tell us something
about themselves.
Still on Research, we are very fortunate that the research fundraising continues to be success-
ful with events and one off donations warmly received. Whilst the research funding for this
year has been secured, we are actively chipping away at the funding requirements for FY11.
With the mice colony up and running, we knew there would be a greater challenge going for-
ward. Our target for FY11 is $105,000. We‟ve included in this edition a fundraising barometer
together with an honour (thankyou) roll to acknowledge those active fundraisers and gener-
ous individuals.
Congratulations to Harry Owens from Crookwell who is our winner in the My Story Competi-
tion. Harry‟s story won him an iPod Nano. It was such a tough decision to decide the winner
that we have awarded two extra runners up Prizes. Samantha Wallace from Dubbo and
Harry Grigson from Perth have both won iPod shuffles. All three stories are included in this
newsletter.
October looks set to become the busiest of this calendar year. We commence with the 4th Na-
tional PKU Youth Camp to be held over the week commencing the 4th October. We have 25
children attending the week from NSW, QLD and Victoria. In this newsletter, you‟ll meet this
year‟s camp Head Coordinator Malcolm Bargh. We have been particular fortunate that we
were successful in gaining a St George Foundation community grant to assist in the funding
of the camp. This has taken considerable pressure off the Association‟s finance‟s. Later in the
month we celebrate the 2nd Gala Dinner for PKU Research at the Dural Country Club. Last
year‟s event was a terrific evening and we hope to replicate the success again on the 23rd Octo-
ber. Details of the dinner are again in this month‟s newsletter or at our website or contact
Julie Pankhurst on 0403-331-360 for table reservations. Hurry, the tables are filling fast. I
hope to see as many of you there supporting our PKU research as possible.
Finally, with Christmas just around the corner, please watch the Website for the Venue of
this year‟s Christmas party on Sunday 28th November. There will be fun and games and a
Secret Santa for all children under 12. www.pkunsw.org.au
Andrew
The NSW PKU Journal 3 Spring 2010
Fundraising Corner As this newsletter goes to draft, some lucky sole had won the Rotary Whitewater Duck Race of
2010. The 1st prize went to Tony Murray of North Richmond. 2nd prize was won by Judith
Banks and 3rd prize went to Gerda Head. With every ticket sold for this duck race, the PKU as-
sociation receives a percentage of the sales. A big word of thanks to Remona Coleman who again
coordinated with the Rotary Club of Kurrajong North Richmond ticket sales on behalf of the as-
sociation. This year Remona raised $900 with proceeds to support the funding of the kids camp.
Also,
Special thanks to Lucia Tiloca who has also been running the Colgate Toothbrush fundraiser.
We hope to be able to report on its success next newsletter.
Roll of Honour
The PKU Association, family and friends would like to thank the following for their assistance to
our fundraising targets:
NAME DATE AMOUNT PURPOSE
A & J Keels 28/09/2009 $ 100.00 Association
R Jones 25/11/2009 $ 200.00 Association
N Cullen 14/12/2009 $ 50.00 Association
D Cullen 14/12/2009 $ 50.00 Association
P Cullen 14/12/2009 $ 50.00 Association
P McDonald 14/12/2009 $ 50.00 Association
B Cullen 14/12/2009 $ 50.00 Association
O Lloyd 14/12/2009 $ 116.00 Association
A Tilocca 11/01/2010 $ 30.00 Association
R. Eckels 11/01/2010 $ 50.00 Association
M Hopkins & J Robertson 11/01/2010 $ 150.00 Association
BK Mortlock 11/01/2010 $ 50.00 Association
JA Lumsden 11/01/2010 $ 50.00 Association
RM Bray 11/01/2010 $ 25.00 Association
M&N Butler 11/01/2010 $ 75.00 Association
A&E Goodacre 11/01/2010 $ 100.00 Association
B Leonard 11/01/2010 $ 50.00 Association
G. Penman 14/01/2010 $ 250.00 Association
M&T Pankhurst 20/01/2010 $ 10,000.00 2010 Research
S. Tucker 4/02/2010 $ 31.00 Association
M Lever 24/03/2010 $ 100.00 Association
Westpac 31/03/2010 $ 10,000.00 2010 Research
A & J Mc Donald 7/05/2010 $ 405.00 Association
N Faro 7/05/2010 $ 200.00 Association
Kindykids Edensor Park 18/05/2010 $ 170.00 Association
L. Tilocca 11/06/2010 $ 1,415.00 2011 Research
Kells 12/06/2010 $ 100.00 Association
F Angemi 21/06/2010 $ 1,415.00 Association
Janet Andrews 3/07/2010 $ 5,000.00 2011 Research
Ruth Andrews 3/07/2010 $ 5,000.00 2011 Research
Z Mitter 27/07/2010 $ 100.00 Association
M&T Pankhurst 28/07/2010 $ 10,000.00 2011 Research
M Lever 7/10/2010 $ 200.00 2011 Research
The NSW PKU Journal 4 Spring 2010
Meet the Research Team
Gladys Ho M. Sc., B. Sc. (Mol. Biol. & Gen.) (Hons), Dip.
Ed.
Gladys Ho is a Science graduate of the Uni-
versity of Sydney, with a double major in
Biology and Biochemistry. She received
Class I Honours for her work on honey bee
behavioural genetics. She was awarded a
Master of Science in 2005 in the same field.
GLadys commenced working as a research
assistant at the Children‟s Hospital at West-
mead in 2005, examining the genetic muta-
tions causative for phenylketonuria. She is
currently undertaking a PhD to investigate
the biochemical effects of these genetic muta-
tions.
Professor John Christodoulou AM MB BS (Honours class II)
Professor and Director, Western Sydney Genetics Program, the Children's Hospital at Westmead
Associate Dean (Postgraduate Studies), Sydney Medical School, University of Sydney
John Christodoulou is a senior Australian human geneticist based at the Children‟s Hospital at West-
mead and has particular expertise in the diagnosis and management of individuals with inborn errors
of metabolism
John Christodoulou is recognised for his contributions to the field of human genetics:
member of the Executive Committee of the Genetic Services Advisory Committee, which advises the
NSW Dept of Health on policies for the delivery of genetic services;
previous President of NSW Branch of the Human Genetics Society of Australasia (HGSA) and im-
mediate Past President of the National Executive of the HGSA;
current President of the National Executive of the HGSA;
inaugural chair of the Health Delivery, Technical and Research Working Group of the newly formed
Human Genetics Advisory Committee of the NHMRC;
member of the Scientific Advisory Board of the Cyprus Institute for Neurology & Genetics;
Editorial Board member of the Journal of Inherited Metabolic Disease.
John's research focus is on genetic disorders which affect brain development and function such as Rett
syndrome, phenylketonuria and mitochondrial respiratory chain disorders, with a primary objective
being to better understand the biology of these and related disorders in the hope of developing targeted
therapies
Dr Xingzhang Tong MB Msc PhD
Xingzhang Tong is a medical graduate of the Fujian University of Traditional Chinese Medicine and
was a medical doctor in Liancheng Hospital, China. He immigrated to New Zealand to start his career
in scientific research. He was awarded an MSc (2000) and a PhD (2006) in Biochemistry at Massey Uni-
versity, New Zealand. Since 2006, he has been working as a research officer on development of a novel
treatment for phenylketonuria (PKU), at The Children‟s Hospital at Westmead, Sydney.
Pictured left to right
Gladys Ho, John Christodoulou, Xingzhang Tong
The NSW PKU Journal 5 Spring 2010
Adult Metabolic Clinic at Westmead Progress Report - June 2010
Provided by John Christodoulou
The Adult Metabolic Clinic is active, but not up to full speed yet.
A doctor from the US accepted the role to take up the position of specialist in adult
metabolic diseases at Westmead Hospital. Unfortunately his commencement date has
been indefinitely delayed. Consequently, the hospital has advertised for a local spe-
cialist for 12 months commencing in January. In addition to the specialist, a meta-
bolic dietician will soon to be appointed. It is also fortunate that the clinic has fund-
ing for a half-time metabolic fellow (medico training in adult metabolic diseases) to
commence next year.
In the meantime the clinic is operating (but not at full speed) with the assistance of
Dr Jane Holmes-Walker and Prof Bridget Wilken and hopefully all positions will be
filled early 2011.
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 Re-
gion (Wollongong to Blue Moun-
tains 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