There has been great progress in rare disease research, in big part thanks to the advocacy work of the rare disease patient community. Patients are already participating in research. And in some cases patients have taken the reins themselves to fund their own research.
However, the fact remains that there are over 6000 rare diseases, an estimated 30 million people living with a rare disease in Europe and 300 million worldwide, but no cures and few treatments available for the majority of these diseases.
To help change this, patient involvement in research needs to be taken to the next level.
Rare Disease Day 2018 offers participants the opportunity to be part of a global call on policy makers, researchers, companies and healthcare professionals to increasingly and more effectively involve patients in rare disease research.
Great efforts are being made to take rare disease research to an international level. Only by doing so can we guarantee rare disease research will be truly effective. In turn, this will contribute to increased and faster diagnosis of rare diseases and therefore reduce the number of people around the world who face the daily challenge of living with an undiagnosed rare disease.
In a patient with Bartter's syndrome (increased plasma renin, juxtaglomerular-cell hyperplasia, hyperaldosteronism and hypokalemia, but no hypertension), aldosterone excretion and secretion were increased only moderately despite marked elevation of plasma renin, presumably because of suppression of aldosterone production by hypokalemia. When the serum potassium was raised by administration of potassium chloride and spironolactone, while normal sodium balance was maintained, aldosterone excretion rose markedly. Infusion of albumin decreased plasma renin and aldosterone secretion, and restored normal sensitivity to the pressor effect of exogenous angiotensin. Suppression of aldosterone production to normal limits by administration of albumin, amino-glutethimide or dexamethasone failed to correct the hypokalemia, indicating that some factor other than hyperaldosteronism may contribute to urinary potassium wastage in this syndrome. This study and others raise the possibility that in some patients with Bartter's syndrome the primary defect is impairment of proximal sodium reabsorption.
Sodium chloride, better known as salt, is vital for the organism, and the kidneys play a crucial role in the regulation of sodium balance. However, the underlying mechanisms of sodium balance are not yet completely understood. Researchers of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch, Charit- - Universit-tsmedizin Berlin and the University of Kiel have now deciphered the function of a gene in the kidney and have thus gained new insights into this complex regulation process (PNAS Early Edition, doi/10.1073/pnas.1203834109).
In humans, the kidneys filter around 1700 liters of blood every day, of which 180 liters are collected as primary urine and ultimately one to two liters of urine are excreted. The kidneys thus wash toxic waste products out of the body, but retain some useful substances and reintroduce them into the body, thus simultaneously regulating the salt and water balance.
COLUMBUS – Today Governor John R. Kasich signed the following bills into law:
COLUMBUS - Yesterday, Senator Joe Schiavoni (D-Boardman) and Senator Capri S. Cafaro (D-Hubbard) introduced S.B. 128, which would designate May 30th as Bartter Syndrome Awareness Day. The Senate passed S.B. 128 with unanimous support.
“Bartter Syndrome is not well known, which often means those suffering from it wait far too long for the right diagnosis,” said Senator Schiavoni. “Raising awareness could help save families from years of pain and frustration as they search for answers.”
Bartter Syndrome is a rare, inherited series of closely related renal tubular disorders that cause the kidneys to remove too much potassium from the body. Individuals with this disease also lose an excess of sodium and chloride. There are five different types of Bartter Syndrome.
Washington, D.C. – Congressman Tim Ryan (D-OH) and Congressman David Joyce (R-OH) today introduced a resolution to designate each May 30th as National Bartter Syndrome Day. This designation would give much needed attention and increase awareness for the one million people worldwide affected by Bartter Syndrome and their families working though the difficulties associated with this little known disease. Bartter Syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. This legislation was inspired by 12 year old Ethan Hoffman from Warren, Ohio who suffers from Bartter Syndrome and with his family, has met with Congressman Ryan to brief him on the importance of increasing awareness for this disease.
They say it takes a village to raise a child, but in the case of 11-year-old Ethan Hoffman, it takes dozens of medications, a team of caregivers, 2 loving parents and a very special pediatrician. Diagnosed with Bartter syndrome, an incurable kidney disorder, at age 4, Ethan’s life had been filled with questions, tests and medications since birth. For years, Ethan’s symptoms were attributed to common childhood issues until a visit with Dr. K. Gurumurthy (Dr. Guru), now a Warren Akron Children’s Hospital Pediatrics physician, revealed a life-changing condition.
Ethan Hoffman, 11 years old is an affluent advocate for his disorder termed bartter syndrome. He attended the Rare Disease Day Conference 2015 in Columbus Ohio with his parents. He is a warrior and champion raising awareness and advocacy for bartter syndrome.