By Jodee Redmond from In The Cloud Copy The results of a study have found that betaine and the active form of folic acid, L-methylfolate, are not effective measures to…
By Rachel Whetstone from In The Cloud Copy For millions of Americans who are affected by rare diseases, hope and health lies in the availability of plasma donations. One use…
For millions of Americans who are affected by rare diseases, hope and health lies in the availability of plasma donations. One use of the donated plasma involves the extraction of…
Contact: Britta Vander Linden bvanderlinden@everylifefoundation.org 917.604.6518 30 million Americans need more treatment and diagnostic opportunities https://everylifefoundation.org/rare-disease-community-calls-on-congress-fda-to-enact-life-saving-public-policy-solutions/ (Washington, D.C., December 4, 2019) Hundreds of rare disease advocates from around the country were brought to Washington,…
Long QT syndrome (LQTS) is a congenital disorder that manifests as a prolonged QT interval on patient electrocardiograms. Those who are affected by LQTS are more likely to experience…
With over 500,000 people affected by primary immunodeficiencies in the United States alone, experts are looking for ways to help doctors manage the needs of these patients. One significant…
When Lucinka was born, it seemed like everything was all right. But it wasn’t. Lucinka wasn’t doing well, and a whirlwind of examinations began. First, a diagnosis couldn’t be made.…
It is already known that gender plays a role in systemic sclerosis disease with scleroderma – it’s about four times as prevalent in women than men - but a…
Gastric electrical stimulation (GES) has long been suggested as a treatment for symptoms of gastroparesis, but the use of the technique has been deemed controversial. A recent study published…
The most common inherited bleeding disorder, von Willebrand disease, appears more likely to cause problems for juvenile males living with the disease than juvenile females, according to a study…
By Jodee Redmond from In the Cloud Copy The results of a recent study published in Pompe Disease News suggest that a molecular “tag” used to improve the distribution of…
By Rachel Whetstone from In the Cloud Copy Although rare diseases are uncommon by definition, a new study shows that the total number of people affected by rare diseases is…
It started with fatigue. Then came problems with moving, hand tremors and problems walking. Multiple sclerosis was ruled out by magnetic resonance imaging (MRI). But the trouble didn’t go away.…
Note: The author does hold immense compassion for children and teens and their families living with rare disease. Compassion is empathetic in sorrow, rather than wishing there is no sorrow,…
"It’s like when you suddenly shut off control over your muscles. Your will can’t affect it at all. “I say that I’m a ‘physical schizophrenic,’ and I can only do…
That’s right- HOBSCOTCH NOT hopscotch, and you don’t need a sidewalk and chalk to play it. The Epilepsy Foundation of Virginia (EFVA) has been looking out for you, and applied…
As a second year pre-medical student at Northeastern University, my desire to become a healthcare professional flourishes every day. An advantage of being a student who is just beginning to…
Teresa Scruton is not a physican nor a nutritionist but she has been a person with hereditary angioedema (HAE) as well as a researcher for many years. Below she shares…
Do you want to participate in your wellbeing and in your medical care? Do you want your health care providers to share your data with you? Do you want…
Bohuslav Skoupý had trouble with his kidneys. He even had a transplant. He also had heart problems. In the end, it turned out actually by chance that Fabry disease was…
‘The future is here, it’s just not very evenly distributed’ William Gibson These days there’s much more literature about mal de debarquement syndrome (MdDS) and this resource gives excellent information…
I am a 63 widow, with 2 grown kids. I have pure autonomic failure, which you can read more about here. I went on disability in 2004; it took 4…
By: Teresa Scruton Hereditary Angiodema Abdominal Attacks There are 3 types of Hereditary Angiodema (HAE) abdominal attacks: Lower abdominal - swelling in wall of colon (large bowel), that causes the…
Living life as a rare individual and patient has its challenges day to day. The best feeling in the world, though, is having support: being around people who know what…
“I have cried a lot more in the last ten years of my life than ever before.” A parental odyssey of rare disease, in two of their three children, and…
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