There is something about the feeling of helplessness and feeling unimportant that breaks my heart. As much as I read, write and edit the Global Genes blog on a daily basis about men, woman and children suffering from rare and genetic diseases, I am equally torn by their struggles as I am for the individuals who feel neglected by what they presume is not “as important” as someone else’s rare condition.

We recently received a patient story submission by an individual who was reticent about sharing their personal journey, and their submission will remain anonymous.  As brief as their message was, it reminded me how the absence of education and knowledge of specific diseases, even those that are manageable, can have such an effect on those individuals who feel they are unimportant in their world of rare diseases.

The truth of the matter is that everyone is important.

The story described how the individual produced Cystine kidney stones “all the time” from a rare disease called Cystinuria.  The frustration behind their message included the inability to have a physician who was familiar with Cystinuria understand the condition and constantly having to explain the condition at every appointment due to lack of knowledge on behalf of the medical team.  And then I read, “and we know there are worse rare conditions than what I suffer from.”

Well, I wasn’t going to let this submission be left behind without providing this individual the opportunity to speak out about Cystinuria.  And, just as importantly, bring awareness to the rare community about the news, resources, and support forums available for this rare disease.

Cystinuria obstructs the body’s retention of certain amino acids from excretory pathways. The result is concentrations of the amino acids which collect in the urinary tract at higher than normal concentrations. “Cystine,” is one of these amino acids which can form solid rock crystals eventually grouping together to form hard cystine kidney stones.

The pain associated with these stones have been described as “a knife or stabbing pain.”  Pain is certainly not inconsequential, nor is the abnormality of the body not processing amino acids properly.  Equally touched by the following post at cystinuria.com, this person’s’ personal story is well worth the read: ‘Just Call Me Rocky‘, and rightfully titled.

So, for the submitter of your brief story, I hope this post will serve as a reminder that you too are important in the world of rare disease.  You too have the right for educational awareness and support.  You too are in need of hope.

3 thoughts on “Cystinuria – Education Is Key In Finding Treatments For Rare Disorder That Causes Painful Cystine Kidney Stones”

  1. I came across your site while trying to research ways to help raise money for this painful condition. I also suffer from Cystinuria and it truley is a debilitating condition. If you have a moment I started my own little blog to document my Journey. I am a 33 yearold female who has sufferd with these stones for years.. Hundreds of stones passed and 3 surgeries on my kidneys and still no diagnosis. I was just October of 2012. I was so afraid and lost. I think the worst part is Not may Dr’s are familier with the disorder Most times I have to take a long time trying to explain the condition when I am rushed to the emergency room. I feel like I was born with this condition for a reason and all I want to do is raise awarness..
    Thank you for reading this, We Cystinuriacs are strong and someday they will find a cure.
    Melissa

  2. JoAnn says:

    Mellisa, My daughter-in-law is 30 years old and has suffered with this disease since high school. I just spoke to my son. Lexi just had surgery a year ago and had surgery again this week. They are so frustrated. He said no one wants to do research because there aren’t enough people with the disease and they are afraid to treat it aggressively because it turns into a catch 22. They have so much life to live and she has been so brave!!!! Sounds like you have been brave as well. I don’t know if it would help my Son and his wife to contact you but it might be good for them to know they are not alone.
    I keep praying there will be a break through !
    My prayers are with you as well.

  3. miriam moscowicz says:

    hi! my name is miriam…my son is 17 years, & he has cystinuria for 10 years. he had a cyctoscopy when he was 7 to remove a kidney stone from his bladder, & we went to a nephrologist who tested the stone, he came back with a diagnosis . Its a long story but he was clean for 7 years. when he was 14 he had a kidney stone attack. we did ESWL which of course didnt help, & then we had to start looking for a different urologist. we were very lucky thank god, we switched to montifiore hospital. dr cassale is an angel in the form of a dr. we did laser litotrypsy, stent removal etc…thank god it was succesful now its 2 years later he has some stones again in his kidneys…at this point he’s actually passing stones & gravel everyday. he’s in a lot of pain daily but his stones are shrinking in size…any suggestions on how to live pain free?????

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