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.