There’s a New Study in the Works for Citrullinemia Type 1!
A new way of looking at an old idea--sometimes it’s all you need for innovation. A change in perspective can have such a big effect on a study’s progress, especially…
A new way of looking at an old idea--sometimes it’s all you need for innovation. A change in perspective can have such a big effect on a study’s progress, especially…
The HCU Network of America is not only trying to spread awareness and encourage research for homocystinuria, they were founded to serve as a resource for those currently living with…
In support of Dravet syndrome, Annabel Hughes and her son Henry, will be climbing Ben Nevis on June 17—Britain’s tallest mountain. The Hughes family has been directly affected by this…
A year after 4-year-old Lyla was diagnosed with microscopic polyangiitis (MPA) in 2015, the disease became so advanced that she was placed on dialysis for 12 hours a day. Her…
When it comes to the topic of severe fatty liver disease there is good news and bad news. In the spirit of leaving on a good note, let’s get to…
Pregnancy complications can arise no matter how healthy the expectant mother is or how careful she's been to protect her precious bundle of joy. Certain complications are minor—while others pose…
When you have a bleeding disorder, you have to be careful doing everyday tasks. It changes your normal routine. It changes your life. For Malaika, her diagnosis of hypoprothrombinemia took…
Want some more news, events and announcements on Narcolepsy? We got 'em! [one_half] [/one_half] [one_half_last] A Narcolepsy Miracle Drug? First Patient In Phase 3 Study Evaluating Treatment for…
Picture this: A desperately ill man with myelodysplastic syndrome in his seventies is fighting for his very life. A beautiful young woman in a foreign country is going about her everyday life.…
Have you ever heard of “ex vivo” gene therapy? If you haven't, it means removing some cells, modifying them, and putting them back in. The goal? Curing the diseases that…
Want some more news, events and announcements on Gaucher disease? We got 'em! [one_half] [/one_half] [one_half_last] Promising Molecule Identified as Possible Treatment for Gaucher, Parkinson's Diseases NICE Changes Mind…
You’ve heard the saying, it takes a village to raise a child? Well, as much as the fiercely independent may chafe at the suggestion, it’s true: raising, teaching, and protecting…
The Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders Association was established in 1996 to serve and support all those affected by PKAN, PLAN, MPAN, BPAN, and CoPAN. Of these, PKAN or…
Bronchopulmonary dysplasia, or BPD, is a chronic lung disease that most commonly occurs in premature infants and is caused by a reaction to being on mechanical ventilation, or from being on…
I think most people experience eye problems at one point or another. Maybe your child came home with "pink eye," and before long, everyone in the household had itchy, burning…
These days Frank drives around to help others with trigeminal neuralgia. He seeks to raise awareness while comforting those who are living with the condition. Before Frank was diagnosed, he…
Addilynne is a 3-year-old with living with a disease that affects her muscle movement and strength: spinal muscular atrophy (SMA). But Amanda, her mother, states that SMA is an acronym for…
The Transverse Myelitis Association is a nonprofit founded by individuals whose passion for advocating for the disorder is deep-seated. All five of the families who have worked to establish it…
You know the old adage that if you give someone an inch, they’ll take a mile? While it is highly unlikely that whoever this “someone” is will take 63,360 times…
Want some more news, events and announcements on Dravet syndrome? We got 'em! [one_half] [/one_half] [one_half_last] Opko Health Inc. is Closing In on a Treatment for Dravet Syndrome…
For anyone out there who has climbed a mountain, you know one of the universal truths of all monumental tasks: A mountain always looks bigger when you’re standing at the…
Regardless of whether labor is long or short, whether it is hard or easy, whether a baby is born vaginally or by cesarean, most parents recall the first hours and…
As much as it pains me as a “word guy" to admit it, music is probably unparalleled among all the other arts in its ability to motivate action and change…
Second grade. So big but so little. An academic year filled with spelling and vocabulary words, simple math fast facts, and learning how to use a keyboard. And maybe at…
Welcome to Friday Patient Worthians! This week we have a PW Contribution on one woman's battle with Stiff Person's Syndrome. We also have a piece on using fear to serve you in…