By Jodee Redmond from In The Cloud Copy When a patient identified as Ms. B in a case history complained of headaches starting at the back of her head and…
My name is Mika Jayne Covington. I’m 29 years old and I live with an ultra-rare disease called cystinosis. I am also a transgender woman and my pronouns are she,…
By Jodee Redmond, In the Cloud Copy The work of a pediatric oncologist isn’t for the faint of heart. All their patients are children, and the outcome isn’t always good.…
by Danielle Bradshaw, In the Cloud Copy A common occurrence among children that have rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation or ROHHAD syndrome is that they’re also…
By Lauren Thayer from In The Cloud Copy Latent autoimmune diabetes in adults or LADA is a slow progressing form of autoimmune diabetes. Similar to type 1 diabetes, also an…
By Danielle Bradshaw from In The Cloud Copy Cheri Tannenbaum spends her days making 1960s flower child themed clothing and it’s a style that she’s rather fond of wearing too.…
By Lauren Thayer from In The Cloud Copy Hemophilia is a medical condition in which a person’s blood clotting ability is severely reduced. This inability to properly clot leads to…
By Danielle Bradshaw from In The Cloud Copy Angelman syndrome is a rare genetic disorder that is a combination of multiple physical and mental disabilities. 1 in every 15,000 people…
By Danielle Bradshaw from In The Cloud Copy Expressive language sampling, or ELS, could potentially help researchers better measure how well treatments work for patients with fragile X syndrome or…
Por Natalie Homan de In The Cloud Copy En los Estados Unidos, una enfermedad se considera "rara" si afecta a menos de 200,000 Estadounidenses en un momento dado. Las enfermedades…
By Danielle Bradshaw from In The Cloud Copy The cells of hemophilia A patients were taken and genetically modified so that they would create an active clotting factor VIII (or…
By Danielle Bradshaw from In The Cloud Copy For the past five years, it has become more and more apparent that some people have a greater predisposition to suffer from…
By Danielle Bradshaw from In The Cloud Copy Researchers in Germany have gone on record saying that there is a concern with how well patients are able to tolerate the…
By Jodee Redmond from In The Cloud Copy The results of a new study using laboratory rats to model cerebral palsy with spasticity (muscle stiffness) accompanied by dystonia (involuntary muscle…
By Natalie Homan from In The Cloud Copy At 41, Tiffany Wedekind, of Columbus, Ohio, has lived much longer than her doctors could have hoped when she was diagnosed with…
By Natalie Homan from In The Cloud Copy The new reality of the COVID-19 pandemic means that workplaces are changing very quickly. This requires every employee to adapt, and neurodiverse…
By Natalie Homan from In The Cloud Copy In the United States, a disease is considered “rare” if it affects less than 200,000 Americans at any given time. Diseases can…
By Danielle Bradshaw from In The Cloud Copy It has been shown in a recently published trial that satralizumab could potentially reduce the risk of neuromyelitis optica spectrum disorder (NMOSD)…
By Jodee Redmond from In The Cloud Copy Dr. Kristina Simonyan has been studying patients with laryngeal dystonia. Through the scope of her work, she has heard numerous anecdotal accounts…
We need controls! No, not cockpit controls or videogame controls, and no, we're not out of control. We need control participants for the Dupuytren Biomarker Discovery Pilot Study. Our goal is…
Por Jodee Redmond de In the Cloud Copy Thermo Fisher Scientific, líder mundial en la comunidad de ciencias de la vida, ha anunciado que ha desarrollado una nueva prueba para…
By Danielle Bradshaw from In The Cloud Copy 19-year-old Marky Jaquez’s feet have never touched the ground because the sensitive skin of his soles would tear away. As such, he…
By Natalie Homan from In The Cloud Copy The COVID-19 pandemic has changed the lives of millions around the world in an incredibly short span of time. It’s hard to…
By Natalie Homan from In The Cloud Copy Two businesses that advocate for patients with rare and orphan diseases announced recently that they are teaming up to help patients get…
This was originally published as the Seventh Newsletter for the Leukodystrophy Resource Research Organisation (LRRO) on April 19th 2020. You can read more from their newsletter here. To state the blatantly…
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