Cystinuric Perspectives (Living with Cystinuria and Chronic Cystine Stones)

Cystinuric Blog Page

What do I know, first hand, about Cystinuria?

I know what my bladder looks like because I have passed several pieces of it in my lifetime. My bladder is a dark red-orangish color with many visible scattered pieces of cystine crystalluria in it.

I know that stents to prevent blockage of my kidney fail within 30 days of placement. My condition causes such an abnormal excretion of cystine that a stent will become encapsated with massive amounts of cystine (stone) thus rendering the effectiveness of the stent useless. I become blocked.

I know that the three major drugs to treat Cystinuria commonly causes nephritic syndrome (proteinuriaprotein in the urine). The Journal of American Medical Association has an article(s) to support this finding. This makes me wonder if it actually effective or passing cystine in a different state ( cystine is a protein building block)

It is an orphan disease that is often misconceived by medical professions therefore precautionary steps overlooked and symptoms dismissed.

I know that many medical professionals may not have understood my need for mandatory monitoring of my condition ie rapid stone formation and drug monitoring.

I know that doctors have released me with hydronephritis (full renal blockage) from ER for lab results because I did not look sick enough. (Lab test later confirmed)

I know that cystine crystalluria causes chronic pelvic and lower back pain despite hematuria not being observed in a urine sample or despite the presence of an unremarkable CTscan. Cystine Crystalluria cannot be seen on either a CT scan or KUB X-ray where as cystine stones may be seen on a CT scan.

I know that there is no medical treatment for large traveling stones with exception of waiting it out.

Multiple risk for errors in procedural, medicinal, or surgical treatment occurs in patents with severe Cystinuria and I, personally, have endured the following:

a) I've had a punctured lung during a percutaneous procedureb) neck injury during a routine lipotripsy (is recurrent and required 6 months of physical therapy)c) I have had misdiagnosed retrograde (imbedded) stones which caused 4 unnecessary surgeries because the head surgeon failed to correctly read my CT scans.d) I have had a rib removed in order for a doctor to remove a large cystine stone during open surgery.e) recurrent blood loss severe enough to a blood transfusion (2-3 times)f) Percutaneous placement failures either too much blood or the tube was not placed in the correct position for access.g) I had over 50+ rigid cystocopies with the benefit of anesthesia often lasting an hour or more.h) prescribed Cuprimine with no followup care.

I have never had a time in my life, since being diagnosed, to be stone free.

As a newborn, I was taken to the ER for undiagnosed crying fits.

As a toddler, I was photographed lying down and screaming in pain that occured regularly (not in association with a tandrum).

As a second grader, I experienced my first recognition of the pain of kidney stones that went incorrectly diagnosed as a bladder infection.

Being a female, my complaints were dismissed as pain associated with growing pains diagnosed at the age of 12-13 despite symptoms being present as early a infancy and symptoms by early grade school.

I learned to tolerate pain as a result to my pain either being ignored by professionals or not diagnosed.

I was finally diagnosed at 12-13 years of age due to my first prolonged blockage.

Doctors have (countless times) have taken out hundreds of cystine stones per operation (not to be be confused with gravel or crystalluria) A surgery or two at a regional facility did yield a 6 ounce container full of cystine stones.

I have incurred blood lost due to surgery and scar tissue.

I have had multiple surgeries that last 8 hours or more.

I had three emergency, open kidney surgeries by the time I was 17 years old.

I have had multiple procedures and 60-70 (lost count) surgeries in addition to the three open kidney surgeries.

I have no idea how many stones I can pass in a week because of the prevalence of stones and my massive cystine excretions. (The most in a day I have counted was 100 and the most in one urination about 30)

I have awaken from surgery to have more than one percutaneous tubes placed in me.

I have had been placed in ICU type units because of blood loss or other problems more than once.

I have had reoccurring pylonephritis

This orphan disease if often misinterpreted with case of common kidney stones (calcium, struvite, and urid acidat the extreme these former may only have one or two stones per year) despite the inborn metabolic impairment and abnormal cystine excretions present at birth and throughout life.

There is no present cure for this disease.

There is no drug currently available halts cystine excretions.

I am currently using a last resort drug (chelation therapy)

I have chronic pelvic and back pain 24 hours a day consistent with cystine crystalluria (crystals in the urine).

I suffer from acute, sudden pain weekly.

In my teens, my urologist would say I probably pass the largest stones he ever witness a human pass.

Since my diagnoses, it has been impossible to access how many stones I have formed much less have passed in my lifetime.

I know that my family members have been threaten job loss because of their caretaker position in having to take me in for surgical procedures or ER visits.

The two years prior to receiving disability, I made $3,000 to $4,000 dollars a year. I did not miss work unless I was at the hospital and this is well-documented.

I have had medications directly applied into my kidneys using the port of a percutaneous site to assumingly dissolve my staghorn and large stones. It made my stones larger instead of smaller.

Captopril and Urocit-K has not been effective treatment for me.

I have not been able to find consistent information about a Low- Methionine diet. I had a dietician and a research team who failed to show results at a local (University and hospital).

I have parenchymal scattered throughout my right kidney. I will probably have it removed in my near future. If this happens, I know my cystine excretions will be concentrated in my left kidney which will accelerate the destruction process in my left kidney.

I suffer from depression and demorilization associated with pain and the severity of my Example 1: I know I have let down family and loved ones because I was unable to plan or attend social obligations. Example 2: It becomes evident that no one (family and medical professions included) can fully understand the pain associated with cystine. I suffer in silence to avoid appearing whiny with little acknowledgment because this is such a little understood orphan disease.

I have vomited and passed massive stones when at previous jobs, and I have been dismissed from every job I have ever had because of time off for hospitalization or pain related conduct at work ie vomiting, bathroom breaks to pass stones, etc.

I know that the effects of chelating agents are as severe as Cystinuria, and that I am unable to take this medication for long periods of time.

I have been denied treatment at both physician offices and hospitals (ER) due to the complexity of my disease.

I am college educated in a field that is in high demand yet I am unable to work because of Cystinuria.

I know that low-methionine diet information is conflicting. There is no study determining whether are not this is either effective or that patients are actually following such a diet.

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