[Guest]

Sean diagnosed in 11/98 Cystinuria. He is currently in Kingston Hospital receiving hydration pain management via a PCA pump. is his 17th inpatient stay since 10/30/00 when we were told he "stone free" his 50th inpatient stay since 11/98. Sean has recently turned 16 I am very concerned about him because in last 3 months he has repeatedly stated he does not want to live any longer he feels re is no doctor can give him any answer to horrible disorder. Sean has had 4 percutaneous procedures holmium laser tx. Multiple cyctoscopies, also holmium laser tx, 7 ESWL tx's. re has not been a week since 1/1/01 Sean has not been hospitalized at eir Westchester Medical Center, St Agnes or Kingston Hospital. I am a registered cardiac nurse at Vassar Brors Hospital since 12/8/00 re has been only 2 days I have not been in a hospital. Sean's regular pediatrician, Dr Ali Naghsh called me from Kingston Hospital morning told me we cannot continue to hospitalize Sean every week pain management hydration. He is very concerned about his health well being. He feels no one is offering any relief to Sean requested I find anor nephrologist would actively take on Sean's case. Sean takes: Urocit - K, 10 meq, three pills, three times a day Thiolla, 100 mg, three pills in a.m., six pills in afternoon six pills again at bedtime Captopril, 25 mg, one pill, three times a day Ativan, 1 mg one pill in a.m. at bedtime Sean drinks anywhere from 4 - 5 liters of fluids a day. Dr Weiss said his cystine levels have come down. ....when he made "stone free" via percutaneous holmium laser tx on 10/30/00 he managed to produce a CT scan giving evidence to 6 large stones on 1/1/01 resulted in transport from Kingston Hosptial to Westchester Medical Center y told me would be his very last ESWL tx. Dr Weiss both his urologists Dr S Kogan (pediatric) Dr Eshghi (adult) have told me y have never had a pediatric or adult case where stone production is so prolific. statement does not help Sean. Dr Weiss has sent out 4 letters his timeline across country to Paris, France. I don't think he has even gotten a response. No one should have to gothrough pain he has endured. During second third week of February....over 18 days... he passed 19 stones. His last visit to Dr Weiss he deposited 2 stones when doctor asked a urine sample. He can no longer attend school is being presently home tutored. He has no social life soever. We have not vacationed since he diagnosed disorder because we have to be in close distance to WCMC emergency treatments. I have sent out 187 letters to 187 pediatric nephrologists in 8 states over last 4 weeks requesting any help ........ I have not had one response. Thank r time, Susan R. Robinson RN 59 Brucken Road Hurley, NY 12443

[Guest]

I have not seen such a brittle case either, and, unfortunately, have little to add.

[Guest]

I believe the manufacturer of Bucillamine is Santen Pharmaceuticals. It is primarily a Japanese company. For more details, you can try to reach Ed Stevens at 619-293-7100. There is also some limited research on the use of N-acetyl Cysteine which is a nutritional and not a drug. While it's benefit is somewhat controversial, there are published reports suggesting it may help. It is available in health food stores as 600 mg capsules and the recommended dose is one 4 times a day although it's use in children has not been studied. Adequate fluid hydration and sodium restriction as well as alkalinization are needed for this to be effective. I am also calling some of my colleagues who deal with cystinuria to see what else can be offered to you. Stephen W. Leslie, MD Assistant Clinical Professor Dept. of Urology Medical College of Ohio Founder and Medical Director Lorain Kidney Stone Research Center Lorain, Ohio

[Guest]

This sounds like a truly desperate case. You indicated the medications Sean is on but not on how well they are working. Have his stones all been cystine? What is his urine output? How much cystine does he produce in 24 hours? What is his urine pH or acid level? (optimal for cystine is 7.5-8.0 because the higher the pH the greater the solubility of the cystine) What is the family history? Assuming his medical preventive therapy is optimal, there are two additional procedures that can be considered. One involves an autotransplant where the kidney is moved into the bony pelvis and the renal pelvis is connected directly to the bladder. This allows even fairly large stones to pass into the bladder where they can be voided out or removed relatively easily. But this would be difficult to do with 2 kidneys. The preferred option would have to be a kidney transplant that would not have the cystinuria defect. Also, contact the Kidney Stones Patient Newsletter at 1-800-2Kidneys. There is also the cystinuria support network at cystinuria@aol.com, 206-868-2996 (eve) or mail at 21001 NE 36th Street, Redmond, WA 98053. Finally, there is an investigational drug that is supposed to be more effective than Thiola with fewer side effects. While it's not yet available, if you can find the manufacturer they might let you have some on a compassionate basis or enroll Sean in a study. This investigational medication is called "Rimatil" or bucillamine. I'll try to research some more on this for you. Stephen W. Leslie, MD Assistant Clinical Professor Dept. of Urology Medical College of Ohio Founder and Medical Director Lorain Kidney Stone Research Center Lorain, Ohio

[whirleeq]

I know this post is several years old; if you ever check it, know that I am someone who suffered most her life from severe cystinuria (used to make golfball sized stones within a month) and has had more percs, lithos, etc, than I can count. I had a dual renal autotransplant back in 2004, and have been in the hospital only once since for kidney stones (and because a stone got stuck on its way out). That was it. I pass stones the size of dimes now without pain and without medical intervention because my kidneys are in my pelvis and flipped up and attached to my bladder.

Dr. Mark Noble from the Cleveland Clinic is my urologist, and I can honestly say, I think he saved my life.

Good luck to your son.