How you can help
If you would like to assist our support group we suggest:
You make a donation. Cheque, cash or direct debit (please contact us for info).
Oraganise a local community charity fund raising event for cystinosis (please contact us for ideas and assistance).
Our support group is run soley by volunteers and cystinosis families. We appreciate all assistance we can get.
If you wish to help us we would love to hear from you.
Support Group Email: cystinosis.australia@bigpond.com

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We’ve collated some of the leading websites from around the world that deal with topics relating to the treatment of Cystinosis and and support for families living with the condition.

Support Groups from around the World

Cystinosis Ireland
www.cystinosis.ie
The Cystinosis Foundation, France
www.cystinose.org

Cystinosis Netherlands
www.cystinose.nl
Cystinose-Selbsthilfe (Cystinosis Self Help, Germany)
www.cystinose-selbsthilfe.de

CARE: Cystinosis Awareness and Research Effort
www.cystinosis.ca
Canadian based charity supporting research to improve the quality of life for Cystinosis patients.

Cystinosis Foundation USA
www.cystinosisfoundation.org

The Cystinosis Foundation USA, supporting communities and research.
Cystinosis Research Network
www.cystinosis.org

A USA based charity for Cystinosis research.
Cystinosis Research Foundation
www.natalieswish.com
Also known as “Natalie’s Wish”, a USA based charity supporting research and education.

Mexican Association of Cystinosis
www.cystinosismexico.org
An association which helps support patients with Cystinosis in Mexico and Latin America.

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Since our support group has been up and running we have a number of people to thank for their support:
The Northam Lions club of Western Australia
For their donation of a laptop computer.
The Apex Club of York Western Australia
For their donation of $100.00

Mr. Ted Hughes Medina Western Australia
For his donation of a trip to Paris to attend the International conference on Cystinosis for Sue & Serena Scott.

The Macaulay Family- Victoria, Australia
For their donation of $100.00

The Andrews Family Victoria, Australia
For their donation of $50.00

Ben Hawkins- York, Western Australia
For the donation of a Colour Ink Jet Printer and also, for technical assistance with our web page and newsletter.

The U.S.A Cystinosis Foundation – Mrs. Jean Hotz and Mr. Frank Ritchie
For their never ending support and encouragement as well as setting up an Australian web page. They have also supplied us with much literature that we have been able to send on to all our Australian families and doctors. Many thanks.

The Cystinosis Foundation of UK & Eire Jonathan Terry & Paul Beckwith
Who have given us much encouragement to push ahead and start a support group for Australia.

Orphan Australia
We wish to thank Orphan Australia for their help and support with brochures and pill timers, and of course the Cystagon. Also the sponsorship for our 1st Cystinosis Conference in Australia, September 9th and 10th 2006
Carers W.A.
For the Family Leadership and Initiative Grant that enabled us to have our 1st Cystinosis Conference in W.A.
Atrium Hotel Mandurah W.A.

For their assistance with our Cystinosis Conference September 2006.

Holcombe Family Victoria
For their donation of $5000 for the Support Group.
Many Residents from Pinjarra and Mandurah
Who have been buying Cadbury’s chocolate for the past year! Thankyou for your assistance in helping to raise funds for our support group.
Many thanks to all the Australian families who have shared their lives and stories. Without you we would not have a support group at all.

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These are the doctors in each state who are dealing with or know about cystinosis.

Support Group Email: cystinosis.australia@bigpond.com

Western Australia

Dr Ian Hewitt
Princess Margaret Hospital
Postal Address: GPO Box D184, Perth W.A. 6840
Phone: (08) 9344 8222

Dr Charlie Crompton
Princess Margaret Hospital
Postal Address: GPO Box D184, Perth W.A. 6840
Phone: (08) 9344 8222
New South Wales
Professor Paul Roy
Postal Address:
Phone: 0408 609 630

Dr Andrew Rosenberg
Sydney Children’s Hospital
Dr Kainer
Sydney Children’s Hospital

Dr Debbie Lewis
The New Children’s Hospital

Victoria

Dr Mandy Walker
Monash Medical Centre
Postal Address: Clayton Rd, Clayton, Victoria 3168
Phone: (03) 9594 6666

Dr Lillian Johnston
Monash Medical Centre
Postal Address: Clayton Rd, Clayton, Victoria 3168
Phone: (03) 9594 6666

Dr Richard Kitching
Monash Medical Centre
Postal Address: Clayton Rd, Clayton, Victoria 3168
Phone: (03) 9594 6666

Dr Mignon Moyle
Email: marshnpenguin@hotmail.com

Dr Collin Jones
Department of Nephrology, Royal Children’s Hospital, Victoria
Phone: (03) 9345 5522

Dr Harley Powell
Royal Children’s Hospital

Queensland

Dr Burke
Princess Alexandra Hospital
Tasmania

Dr Geoffrey Kirkland
Hospital/ Institution Name
Phone: (03) 6224 1916
South Australia

Dr Paul Hennings
Department of Nephrology, Adelaide Women’s and Children’s Hospital
Postal Address: North Adelaide S.A.
New Zealand

Dr First Surname
Hospital/ Institution Name
Postal Address:
Phone: (99) 999 9999
Email: name@domain.com

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If anyone would like to talk to another family that has a child or young person with Cystinosis please see below:

Support Group Email: cystinosis.australia@bigpond.com

Western Australia

The Scott Family

Phone: (08) 9531 2135

Mobile: 0407 196 685
Email: princess_serena@bigpond.com
The Conway family
Phone: (08) 9419 58745

The Hall Family
Phone: (08) 9752 4297
New South Wales
The Connors Family
Phone: (02) 4965 1831
(mum-Judy has hearing problem, please speak clearly)

The Moore Family
Phone: (02) 6337 5814
The Diaz Family
Phone: (02) 4739 9953

Victoria
The Yacoub family
Phone: (03) 9436 5614

The Macaulay family
Phone: (03) 9877 0260
The Andrew family
Phone: (03) 9796 8748

The Holcombe Family
Phone: (03) 5352 2476
Maria Pekli and Daniel Kelly
Phone: (03) 9330 1006

Queensland

The Dodd family
Phone: (07) 4129 0079
The Glass Family
Phone: (07) 3390 3103

The Beerling Family
Phone: (07) 3356 7827
The Woodward Family
Phone: (07) 3269 8909
Tasmania

The Perry Family
Phone: (03) 62489311
South Australia
The Dodd Family
Phone: (08) 8284 1512

New Zealand
The Foster Family
Phone: (03) 4531 117
The Graham Family
Phone: (09) 432 9024
This list will be added to as families join our support group.

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Cystinosis is a Metabolic disease characterised by an abnormal accumulation of the amino acid cystine in various organs of the body such as Kidney, Eye, Muscle, Pancreas, and Brain. Different organs are affected at different ages.

Is It Inherited?
The disease is inherited in a autosomal recessive fashion, meaning that each parent of a child with Cystinosis carries one defective gene and one normal gene. The parents never have any signs of the disease.

What causes Cystinosis?
The Cystine content of Cystinotic cells averages 50-100 times the normal value. The cause is a defect in the transport of cystine out of a cell compartment called the lysosome, in which Cystine accumulates. Because of cystine’s low solubility, this amino acid forms crystals within the lysosomes of cells, and this is probably what destroys the cells.

What are the Symptoms?
There are three clinical forms of Cystinosis. Infantile ( or nephropathic) Cystinosis; late-onset Cystinosis; and benign Cystinosis. The latter form does not produce kidney damage. Infantile and late-onset Cystinosis differ in the age of appearance of the first symptoms and in the rapidity of the clinical course. Infantile Cystinosis is usually diagnosed between 6 and 18 months of age with symptoms of excessive thirst and urination, failure to thrive, rickets and episodes of dehydration. These findings are caused by a disorder called Renal Tubular Fanconi Syndrome, or a failure of the kidney to reabsorb nutrients and minerals. As a consequence, these important molecules are lost in the urine. Children with Cystinosis also have crystals in their eyes { after one year of age} and an increased level of cystine in their white blood cells. Without specific treatment, children with cystinosis develop end -stage renal failure i.e, loose their kidney function, at approximately 9 years of age.If Cystinosis patients receive a kidney transplant and reach adult hood, then their new kidney will not be effected by the disease. However, without Cysteamine treatment they can develop complications in other organs due to the continued accumulation of Cystine throughout the body. These complications can include muscle wasting, difficulty swallowing, diabetes, hypothyroidism, and blindness. Not all older patients develop these problems, however.
Can Cystinosis be treated?
The symptomatic treatment of the Fanconi syndrome is essential. The urinary losses of water, salts, bicarbonate, and minerals must be replaced. Most children receive a solution of sodium and potassium citrate, as well as phosphate. Some also receive extra vitamin D.
The aim of specific treatment for Cystinosis is to reduce Cystine accumulation within the cells. This goal is achieved by cysteamine treatment, which has proven effective in delaying or preventing renal failure. Cysteamine also improves the growth of Cystinosis children. The food and drug administration has approved a capsule form of Cysteamine called CYSTAGON.
Kidney transplantation has proven very helpful in patients with Cystinosis, and Cysteamine therapy should be considered to try to prevent the late complications of the disease.
For both young children with Cystinosis and older patients with kidney transplant, cysteamine eye drops maybe available to remove the corneal cystine crystals.

Is Prenatal Detection Possible?
Today, prenatal diagnosis is available for families known to be at risk for having a child with Cystinosis. Chorionic villus sampling is preformed as 8-9 weeks of gestation; amniocentesis can be performed at 14-16 weeks of gestation.
What Are Possible Future Developments?
Much remains to be learned about Cystinosis Investigators have recently isolated the gene causing Cystinosis, and are now analysing individual patients mutations. Other investigators are trying to determine the best therapies for each complications. Some questions which remain include;
Will Children treated with Cysteamine from infancy be spared all of the later complications of Cystinosis?

  • Will they avoid kidney transplants entirely?
  • Will Cysteamine benefit patients who begin therapy after receiving a kidney transplant?
  • Will Scientists discover the precious mechanism by which the Cystinosis gene product rids lysosomes cystine?

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The Australian Cystinosis Support Group’s websites purpose is to provide information and support for families and friends living with Cystinosis.
Information about the illness, doctors and links can be found on the site.

Ongoing news and information about the support group’s activities is regularly posted within the news section of this website.

You can find contact information for different members of the support group in the contacts section.

We hope you find this webiste helpful.

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