Rare But Not Invisible

September is Sickle Cell Awareness Month and .... we want you to know more about this rare and often unheard of disease. Renal Medullary Carcinoma is an insidious cancer of the kidneys that almost exclusively affects those with Sickle Cell Trait. There are 6 commonly accepted nephropathy conditions associated with sickle cell disease, but when RMC was discovered by Charles Davis in 1995, the question was asked–Is RMC the 7th? Here we are, 21 years later, without an answer.* RMC almost always remains undetected until Stage 4, because it is both aggressive and practically invisible to patients. It is not found in blood or urine tests. Not only does it mimic the symptoms of other kidney disorders in both those with Sickle Cell Disease (SCD) and Sickle Cell Trait (SCT), it is also difficult to treat and there is typically only a 12 month projected life span after diagnosis. This still doesn't answer the question: Could patients with Sickle Cell Disease also have RMC, further adding to the list of life threatening complications and devastating consequences of this disease? Or, is RMC a specific affliction to Sickle Cell Trait carriers? While Sickle Cell Trait is generally considered asymptomatic, it may in fact, be the only precipitating risk factor for RMC. Renal Medullary Carcinoma joins the lengthening list of ailments that those with Sickle Cell Trait might suffer such as increased urinary tract infection in women, gross hematuria, complications of hyphema, splenic infarction with altitude hypoxia or exercise, and life-threatening complications of exercise, exertional heat illness (exertional rhabdomyolysis, heat stroke, or renal failure) or idiopathic sudden death (1-4).* Sickle Cell Disease, Sickle Cell Trait (related complications) and Renal Medullary Carcinoma comprise the triad of medical problems that affect the lives of those carrying sickle cell genetics. Individually Sickle Cell Disease and RMC are considered rare diseases - but we are part of a larger community. Rare Diseases affect 30 million people in the US, (1 in 10) with Sickle Cell Disease being one of the larger rare disease populations at over 100,000. With the addition of SCT complications and RMC - our sickle cell community is one of the largest and strongest. We are #rarebutnotinvisble, we are part of a larger battle to bring awareness to Sickle Cell, RMC and all rare diseases. So this September I ask you, millions of people in the sickle cell community–with any form of the gene– and all the members of the rare disease community to start asking questions. Ask your doctor, your friends, your family – What is RMC? Why have 21 years passed since its discovery and yet we still don't even know how prevalent it is. Is this a further complication experienced by those with Sickle Cell Disease? Join us in talking about #rarebutnotinvisble #thethreelettersyou’llneverhear #sicklecellaware Most importantly, keep sharing our petition. Each and every signature counts. Thank you, Catherine Law, R.M.C. Inc. Citations: Renal Medullary Carcinoma The Seventh Sickle Cell Nephropathy. Davis, Charles J. Jr. M.D.; Mostofi, F. K. M.D.; Sesterhenn, Isabell A. M.D. Sickle Cell Trait John Kark, M.D. http://sickle.bwh.harvard.edu/sickle_trait.html https://globalgenes.org/rare-diseases-facts-statistics/