Just Call Me Rocky

Written by Brenda Jacobs

The first 20 years of my life was a breeze. At age 20 my life was completely turned around by giving birth to my first child and discovering that I had Cystinuria. Life suddenly became very painful and my once peaceful existence turned into a nightmare. None of the doctors where I live had ever treated a cystine stone producer. They didn’t know what to expect or how to help. I suffered for many years on special diets and large amounts of sodium bicarbonate. My condition only worsened. I have had all types of surgery and none of it works very well, because in the end the rocks always return to hurt another day.

Over the years I have researched this disease as much as I could. I wrote to most of the big teaching hospitals in the United States and luckily some of the doctors wrote back or called me in person. All of them seemed to be guessing about treatments and they all wished me well. I am not one to give up easily so I wrote to Dr. Charles Pak in Dallas, Texas. It took two letters but finally one day I received a call from his research assistant, Dr. Lisa Ruml. What can I say; she was wonderful. We talked several times and I decided to fly to Texas to become part of their research. I had never flown before and the trip was quite an experience. Dr. Ruml and Dr. Pak were great. Dr. Ruml knew the answers to most of my questions and she left quite an impression on me. These people are working around the clock to try to come up with the answers and I truly believe it will happen in the not too distant future. But for now I continue to suffer and put my family through this ordeal. My husband supports me and works two jobs to keep our household going. Since I have been connected with CSN I have made some fabulous friends. They are Brian Kirby and Marilyn Shipley. I couldn’t make it without either of them. We talk on the phone and write. I would like to thank Jann Ledbetter for leading me to these two wonderful people. I have just recently met a third person, Tina Robinson, who I am starting a new friendship with. Life with Cystinuria is hard but with my family and these friends and doctors, I think I can get by.

As I write this, I am getting ready to go into Duke University Hospital for more surgery. There is a doctor, Glenn Preminger, at Duke who studied under Dr. Charles Pak in Texas and he seems to know a lot about this disease. So off I go again down the yellow brick road to see the wizard. Maybe the wizard’s at Duke.

Clarity’s Story

Written by Joan Miller

My daughter Clarity was diagnosed with cystinuria in May of 1995. X-rays revealed that her kidneys were about three-quarters filled with stones. It was the most severe stones that the doctors at Virginia Mason Hospital in Seattle had seen, especially on someone so young. The kidney tissue itself had been reduced by half, but her kidneys were still functioning fairly well.

She had two percutaneous ultrasonic lithotripsies. The surgeries lasted between four and five hours a piece. On the left side they were able to remove most of the stones from all but one lobe of the kidney and from the right side all but two lobes.

Caring for her in the hospital and for the weeks after we got home was the most difficult for me. She had drainage tubes and bags for each kidney that needed a great deal of attention and were extremely uncomfortable. The pain medication made her nauseated and drowsy. As a teenager it was embarrassing for her to be seen with all the apparatus.

At home we tried irrigating her kidneys for ten hours each night with a sodium bicarbonate solution dripped through the nephrostomy tubes. This was difficult for her as she had to get up very often and wheel the IV pole, bags, tubes, etc to the bathroom. It was stressful for me because I had to keep getting up every two hours to check that the solution was dripping at the right rate. We did it for a week and it made no difference.

She returned to the hospital to go in the lithotripter, but this was ineffective on her hard stones. Later they did another PUL and were able to get most of the stones out of her left kidney.

As of April of ‘96, Clarity has had good results in managing her cystinuria. Her stones are dissolving and no new ones are forming. She follows a complete vegetarian diet with very small amounts of dairy products. This is our diet of choice anyway, so eating a low protein diet is easy for her. She eats very little fat. She uses Polycitra crystals in water once a day. The sodium in the other preparations was making her retain water, and I didn’t like the sugar and dyes. She eats a lot of fresh fruits and vegetables; we prepare most foods from scratch at home.

We no longer use our well water but buy bottled water. To the water I add a solution called “Crystal Energy”, a super-concentrated electrocatalytic mineral solution. It reduces the surface tension of the water, making it a better solvent so that nutrients can be absorbed more fully by the body’s cells. Though I have no clinical proof, it seems to me that this would be useful for her kidneys. She drinks between 8 and 12 glasses of water a day.

Clarity’s doctor is becoming familiar with the holmium laser and plans to use it on the rest of the stones sometime in the next year. These surgeries will hopefully be able to be done through her bladder and ureters instead of percutaneously.

Although is hasn’t been easy to cope with Cystinuria, I am encouraged that the program Clarity is following has been effective.

Tim’s Story

Written by Tim Gode

I am 28, 5’ 8”, 170 pounds, married four years, baby due November 9, grew up in central Missouri, an engineer. Cystine level – about 600 mg/day. Current status – lots of stones in the right kidney. Most aren’t going anywhere. One large stone(1 1/2 cm x 2 1/2 cm) about 1/3 of the way down the right ureter. Stent in place, penicillamine dosage increased to 2000 mg/day, sodium bicarb, B-6, Polycitra and an antibiotic. The doctor’s plan is to try to dissolve it first and then try electrohydraulic lithotripsy. I am glad he’s not cut-happy.

I found out when I was 18 and (almost) passed my first stone (about 1 cm diameter). First doctor correctly identified the cystinuria. From what I have heard so far, I was lucky to get diagnosed correctly on the first try. My first urologist seemed to take a scientific interest in the cystinuria. He tested me almost weekly for several months to establish baseline data. I was put on penicillamine, sodium bicarb, and B-6.

When I left college to start my career, I changed to my current urologist. He told me right away that I probably knew more about this than he did. (What an honest doctor!) He encouraged me to experiment with different approaches to controlling the cystine levels.

I tried going off drugs and doing the diet thing but in February ‘92, two stones ended that experiment. I went back on the drugs and tried reducing the dosage to 250 mg/day. This worked for four years, until my current stone made its presence known. Looks like I’ll be going back to 500 mg/day (maybe more) when this stone is gone.

As of Nov. 27, an IVP showed NO STONES WHATSOEVER in either kidney. Here’s what did it.

My doctor put me on Polycitra and 2000 mg/day of Penicillamine after installing the stent. It took about 2 months but the drugs not only dissolved the 2 1/2 cm stone but it dissolved everything else too! I’m back to 500 mg/day of Penicillamine and 4 doses of Polycitra (1 tablespoon in about 8 ounces of water) and the vitamin B-6 of course.

Removing the stent was really painful but not having to go under the knife was worth it. We never had to go to the lithotripsy! I’d recommend this treatment to anybody who can tolerate the Penicillamine

Sue’s Story

Written by Sue Baker

I am brand new to the world of Cystinuria! A “wonderful” world of stones, WATER and nocturnal voiding. It’s great to know when in the middle of the night when I am up drinking my water- that I am not alone!! All of you are out there doing the same thing.

Let me tell you the story of how I became part of this group. I am 43 years old. I was born with this disease, unaware of it until now (guess I’ve been lucky). I have passed many kidney stones in the past. The doctors weren’t too concerned so neither was I. I knew the signs so I just passed them. Up until last year (2/95). I was at work (I’m a special education TA) when I experienced back pain so severe that I took my first ambulance ride to the hospital. A cat scan revealed that my left kidney had shrunk and appeared not to be functioning. More tests show that I have a large staghorn stone and a “strange” blockage in my ureter. They assumed this was cancer. So now I am facing my first surgery to remove my kidney and also cancer. Don’t think I wasn’t scared.

The surgery was very painful as a lot of you know. My “cancer “was Cystine!! They saved half of my kidney. My urologist, Dr. Goldman, was a very caring and compassionate man. He also was very excited. I was his first case of cystinuria in his 40 years of practice. He didn’t really have too much information for me to read.

I was happy to learn about the support group. I have learned so much more. Up to this point I am not sure if I have any new stones or not. But I am keeping a positive attitude and I, as with the rest of you, KEEP DRINKING!!

I would love to hear from each and every one of you. Let’s compare stories.

Ben’s Story

Written by Ben Lokos

I have been trying to compensate with this disease for 18 years. My first run-in with Cystinuria was on my 16th birthday, while playing golf. My left kidney shut down and the doctors threatened me with open surgery unless I could pass the stones, which I subsequently did.

Eight years later at age 24, I had developed a huge staghorn on the left side that created a blockage to my left kidney. A percutaneous was performed at this time but I needed to stay in the hospital for four more weeks in order to dissolve the 30 smaller stones that remained after the surgery.

Five years later, at 29, I again had developed a staghorn on the left side. This go around it took two percutaneous and one lithotripsy to get rid of all the stone material. This time I was sidelined for only two weeks in the hospital, but I had become very weak.

Four years later, at 33, I again developed a staghorn on the left side but this one was smaller than the other one had been. This time I had a ureteropyloscopy performed which was successful in getting to all the different calyxes in the kidney. I also developed a small stone in the right kidney which caused intense pain in the right ureter. This stone passed on its own, followed by another.

Unfortunately, no matter what I seem to do I still develop staghorn stones. However, during the last 17 years I have developed a “learned helplessness attitude” toward this illness. Every time I seem to be slowing down the production of stones, they seem to return. Do any of you feel this way?? I know that some Cystinurics have experienced greater hardships than I have described. Yet let’s face it – this is NO PICNIC.

I now treat the condition very seriously as it has also caused me to have extremely high blood pressure. (180/130) All along I was drinking 1-2 gallons per day, as well as taking 60 mgs of Polycitra-K crystals during the night.

After the last surgery was done, I discovered a natural way to alkalinize my urine, by drinking wheat grass juice, and chlorophyll. I am also taking d-penicillamine which I gradually adjusted to. My nephrologist (Dr. Zackson) recommended a desensitization schedule until I am able to tolerate a therapeutic dose. The reason for the desensitization to Cupramine is because I am allergic to Thiola and Captopril and developed hives with Cupramine when I originally took it. An allergist recommended taking a tweezer-full at a time for two months until I built up to one pill. After 2 more months I built up to three pills.

In closing, I have discovered that by drinking the wheat grass juice, I am better able to adjust to alkalinizing the urine and actually derive tons of energy. I know that I will beat this condition and not let it get to me, and I think we all need to maintain a positive attitude!

The High Cost of Denial

Written by Carolyn Arrington

This is a personal account of my own struggles with cystinuria, and while it is always difficult to recall the traumatic events involving my past medical problems, I hope many other cystinurics can relate to my experiences.

I’d like to tell you I’ve been courageous in my endurance, vigilant in following doctor’s orders, a cooperative, docile patient — but that is not true. Some of my resistance to initial treatment came from my own emotional difficulties surrounding the particular time of my diagnosis, as well as a myriad of complex factors. Suffice to say, I was a troubled young adult, mainly from unresolved dysfunctional family issues, and the first few small stones occurred in my late teens. Though painful and requiring hospital emergency care, I passed those stones, and the G.P. who treated me did not suspect that those isolated incidents were connected.

After I was married a year or so, I had episodes with larger stones which required hospitalization and one cystoscope. Fortunately, I was under the care of an excellent urologist, and he had laboratory analysis done on a stone, told me I had cystinuria and sent me to a nephrologist.

At this point there occurred an almost fatal mistake on my part, and both the urologist and nephrologist. What happened? In retrospect, I tend to think it was simply a profound lack of open communication, almost a misunderstanding, complicated by my own emotional frustrations, fears, worries which were never addressed at all. The urologist was a talkative, demonstrative individual; he would speak at length about the urological aspect, even showing me small-scale models of the kidneys, etc. I’d become accustomed to his articulate, engaging manner and expected the same treatment by the nephrologist.

But, as I eventually learned, these two specialists were utterly different in their personalities, their medical approach, their go on and on with the medical saga, but I think every cystinuric knows all the various details about major kidney surgeries, the other procedures that helped me survive. It was a long, difficult two years of endless rounds to doctors’ offices, medical labs and occasional hospitalizations. I’d love to tell you I was brave, but I was not; I was a thoroughly depressed, miserable woman.

If I could change one thing about that ordeal, I wish I’d had professional counseling — not only for my diagnosis of cystinuria, but also for other troubling emotional difficulties that took me many years to resolve. I never met another cystinuric during that time, but the few people I happened upon with kidney stones, either while in the hospital or while in a doctor’s office, were suffering so much that it seemed impossible to discuss our medical problems.

Perhaps in an effort to correct his earlier casual attitude about my condition, the nephrologist now gave dire, scary warnings and instructed me to take penicillamine. And I didn’t question him; I did what I was told. Frankly, I didn’t see I had a choice, and though I was depressed, I did want to live. When I broached the subject of having children, there really was no need for the doctor to say anything: the look on his face said it all. It was not a primary concern for me, therefore I willingly decided against ever having children…something I’m sure many women might not so readily accept.

I attribute my survival now to the penicillamine, which I took for fifteen years; but when side effects occurred, I had to stop it. Looking back, I personally feel that the starvation diet along with overwhelming stress brought about my acute attack when both kidneys were blocked. Prior to that, the early diagnosis apparently gave no indication of cystine levels being high enough to cause such a devastating consequence.

I’d love to end this by saying I always take care of myself, always drink enough water, eat right and see a specialist regularly. But the truth is, while I do much better now at taking care of myself, I am far from the perfect patient; I am always looking for alternative treatments, hoping that a genetic breakthrough will solve the riddle of cystinuria, somehow give us all better prospects for treatment/prevention in the future.

The good news is, though, I no longer DENY being a cystinuric — because I learned the hard way it is a costly mistake to do so.