For the first six months of his life, Oliver Mills seemed to be developing fairly normally. He was a happy, bubbly baby. His mother Laurel found joy in every smile,…
Shortly after Laura Colby was born, she was diagnosed with a rare metabolic disorder known as maple syrup urine disease (MSUD). Normally, our body has an enzyme complex that breaks…
When Eleni was first born, doctors and nurses told her parents, Neil and Eloise, that their daughter would most likely not survive. That’s because Eleni had been diagnosed with…
On July 30, 2021, biopharmaceutical company Cyclo Therapeutics shared that it had released new and promising data regarding the safety, efficacy, and tolerability of Trappsol® Cyclo™ ("Trappsol Cyclo") for patients with…
We know that it can be difficult to receive the correct diagnosis for a rare disease. Sometimes, you have to be your own advocate. This means learning everything you can,…
February 28th is known as Rare Disease Day, designed to raise awareness of rare diseases, patients, caregivers, and their experiences. As this day approaches, the American Kidney Fund (AKF) shared…
In the past, there existed no approved treatments for alkaptonuria (AKU), a rare genetic disorder characterized by homogentisate dioxygenase deficiency. However, according to Medical XPress, this recently changed as British…
In a recent press release, biopharmaceutical company Fortress Biotech announced that their study regarding ATP7A targeted next generation DNA sequencing for Menkes disease was published in Molecular Genetics and Metabolism…
As originally reported in CheckOrphan, there's good news today for adult patients with acute hepatic porphyria, a genetic disorder which causes pain and paralysis. The Food and Drug Administration (FDA)…
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