Education, Advocacy, Support, Highlight Sixth ICF Symposium

Symposium 2014 New YorkThe International Cystinuria Foundation’s sixth symposium on Nov. 1, 2014 at New York University’s Langone Medical Center focused on a wide range of key issues, including new developments in patient care, research, medicine, patient advocacy, as well as the opportunity to speak face-to-face with others who share this journey in one way or another, as caregivers, patients, medical professionals, or pharmaceutical providers.

For those unable to attend, the symposium was recorded and will soon be available for viewing.

ICF President George Brown welcomed the diverse audience to the symposium, and shared the nonprofit organization’s gratitude for the generous support from event sponsor Retrophin, maker of the drug Thiola; as well as Orphic Therapeutics; True Citrus, and two patient advocacy organizations – NORD (National Organization for Rare Disorders) and Global Genes.

Presenters included Dr. David Goldfarb; Dr. Michael Grasso; Dr. Michael Ward; Dr. Amrik Sahota; Dr. Deepa Malieckal; Frank Modersitzki, MPH; Mary Dunkle, Vice President for Communications at the National Organization for Rare Disorders; and Retrophin representatives Tom Fernandez and Tricia Sterling. ICF board member Dawn Bare, and her courageous daughter, Allison, one of three siblings afflicted with the disease, also shared their personal journey as caregiver and as a patient so severely affected, she has undergone autorenal transplants on both kidneys.

Dr. Goldfarb, clinical chief of nephrology at NYU Langone Medical Center, chief of nephrology at the New York VA Healthcare System and professor of medicine and physiology at NYU School of Medicine, provided an overview of cystinuria.

The prevailing medical advice, he said, continues to be the critical importance of fluid intake of three to five liters per day; a low-salt, low-animal protein diet; and keeping urine alkaline at a ph level of 7.0 to 8.0, which can be monitored with the use of test strips that can be ordered through your pharmacy or online. Potassium citrate remains one of the key medicines to elevate ph levels.

Dr. Grasso, chief of the Endourology Section at Lenox Hill Hospital in Manhattan and Professor and Vice Chairman, Urology, New York Medical College, Valhalla, NY, presented on surgical procedures, enthralling the audience with videos showing stones being pulvarized. Because cystine stones are dense and difficult to break, he described ESWL as an ineffective way to treat cystine stones that may cause damage to the kidneys. Endoscopic treatment is a better choice for cystine stones, he advised, and the smaller the scope the better. Non rigid scopes are easier on the ureter than rigid scopes, but occasionally rigid scopes must be used depending on the location of the stone.

While stents are a necessary evil to prevent kidney damage, they should not be left in for more than one week to prevent them from being encrusted with stones. A string left on the stent allows patients to remove them at home easily, and men should do this while sitting.

Dr. Grasso advised patients to ask for the Cook brand stent, which is made of silicone rather than latex, which can irritate the bladder. Additionally, he advised that a larger stent diameter makes it easier to pass larger stones by stretching the ureter, and a shorter stent length prevents the stent from resting on the bladder and causing irritation. He also recommended patients request valium when having pain with stems, which will relax bladder spasm and is a better alternative to pain medication for stent pain.

Dr. Ward, a Silver Professor at NYU and chair of the Department of Chemistry, spoke on new medicines being developed to treat cystinuria, and Dr. Sahota, a professor in the Department of Genetics at Rutgers University and a clinical professor in the departments of pathology and urology, spoke on the CDME study. There is a medicine being tested on mice to prevent cystine crystals from binding and forming stones. While it could take years to develop, it looks promising.

Mr. Modersitzki,, research coordinator for the Cystinuria Project of the Rare Kidney Stone Consortium, emphasized the importance of joining the Cystinuria Registry to demonstrate to grant funders that patients are interested in research for new treatment and medicine.

Mr. Modersitzki, whose research at New York University School of Medicine focuses on kidney stones, kidney failure, hemodialysis, anemia and diabetic kidney disease, is also the principal investigator of the Assessment of Health-related Quality in Rare Kidney Stones, encouraged those who have joined the registry to fill out the Quality of Life Study annually. He can be reached by phone or email for additional information.Information about joining the registry can be found at this link:

Dr. Malieckal, a second year nephrology fellow at NYU Langone Medical Center, Bellevue Hospital and the New York Harbor VA, is working on cystinuria-related research with Dr. Goldfarb.

Ms. Dunkle provided information about NORD, which was established in 1983 and provides programs of patient advocacy, education, research and patient/family services, and also promotes advances in public policy, timely diagnosis and access to safe, effective treatment.

The Bare family is all too familiar with cysturinia, and they have been a tremendous inspiration to patients, caregivers and doctors alike. Dawn’s experience as a Registered Nurse has helped the family cope with the disease. She is a member of the ICF Board of Directors and serves on its Patient Advocacy Committee. Allison shared her inspiring story of maintaining an active lifestyle and positive attitude while living with cystinuria.

Many patients take medication, such as Thiola, as part of their treatment. Patients should take medicines as prescribed and report any side effects to their doctor.

Retrophin representatives Tom Fernandez and Tricia Sterling spoke about the new patient care hub for Thiola and conducted a focus group among patients, including those who do and do not take the drug. Similar informational meetings and focus groups are now taking place at various locations in the United States.

More facts and tips from the symposium:

  • Ultrasound is your first choice for a stone or blockage, according to a study reported in the New England Journal of Medicine. A CT is better, but usually is not worth the radiation exposure. Link:
  • If you are interested in evaluating your kidney function go to  You will need the following information: age, gender, weight, race, and plasma creatnine. Here is the link: Normal creatinine level is 1.0. If it increases to 2.0, the patient has lost half function. Loss can be temporary due to various causes, for instance a blockage caused by a stone or infection.
  • LithoLink is the company to request for your 24 hour urine lab. They are helping us obtain more information for research in the future regarding Cystine output in relation to other stones, and other important information.

1 thought on “Education, Advocacy, Support, Highlight Sixth ICF Symposium

  1. Very helpful information! I would like to join the registry. Gives me hope to know that perhaps in several years there will be more prevention options, so I may have fewer incidents in my later years. As a 54 year old living with Cystinuria, my body is less resilient than it used to be in my 20’s. Thanks for keeping the community posted!

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