One mom's mission to find cure for son's rare disease
Sandra Sermone's son Tony lives with a disease so rare that four years ago, only 10 other cases in the world had been diagnosed. When she looked for more information, she learned there was only one study about the disorder."I read that publication probably 50 times," Sermone said. "And I ended up saying I need to find these 10 parents."She created her own database, website and patient registry, which has now identified more than 150 other children with the same condition. © Provided by CBS Interactive Inc. Recently, some of those families met face to face."It's very emotional.
World Hemophilia Day is a public health and awareness campaign on 17th April, for raising awareness of What You Need To Know About Hemophilia . Haemophilia is a rare disorder where the blood does not normally clot Post or tweet important facts about hemophilia on your social media account.
What is Hemophilia ? Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. Thus, males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene.
World Hemophilia Day is observed on April 17 — a day when organizations like World Federation of Hemophilia (WFH) and the global hemophilia community get together to spread awareness about this rare genetic disease.
The theme of World Hemophilia Day 2018 is “Sharing Knowledge Makes Us Strong,” stressing on the importance of sharing what you know about bleeding disorders with as many people as possible in order to help millions who remain without awareness or access to proper treatment.
“World Hemophilia Day is a wonderful opportunity for our community to make its presence felt,” Alain Weill, president of WFH said,reported. “Our focus this year is on Sharing Knowledge because we are convinced that knowledge and education are key drivers in stronger support for patients in our community.”
Stephen Hawking had ALS. What is it? A look at the motor neuron disease
Hawking was confined to a wheelchair by a form of amyotrophic lateral sclerosis, or Lou Gehrig’s Disease. For decades, legendary scientist Stephen Hawking was confined to a wheelchair by a form of amyotrophic lateral sclerosis, or Lou Gehrig’s Disease, a neurological disease that impacts movement. He communicated via a speech synthesizer. His family announced his death early Wednesday.Here's an explainer on what ALS is and what a diagnosis means:What is ALS? ALS is short for amyotrophic lateral sclerosis, which is also known as Lou Gehrig's disease.
Hemophilia is a rare inherited disease where a person is lacking a certain type of clotting factor. There are three types of the disease . If left untreated, this bleeding can become life-threatening. Here are a few fast facts about this rare blood disease
Also read: World Hemophilia Day 2018: Know All About This Rare Disease . World Hemophilia Day importance. Despite the fact that it is a rare occurrence, this disease continues to be a fatality. World Hemophilia Day is about spreading the word about this disease and helping hemophilic
He added: “The WFH has a long history of collecting data and sharing knowledge. The WFH World Bleeding Disorders Registry (WBDR) is an example of how data collection will be used to advance the understanding and care of people with hemophilia worldwide. An accessible patient registry strengthens our capacity to identify, diagnose, treat, and care for people living with hemophilia and other rare inherited bleeding disorders.”
Why some restaurants purposefully make your steaks too rare
The surprisingly logical reason that some restaurants hear “medium-rare” and go straight to “blue-rare.”It turns out, I will never be able to order a steak in Manhattan. The New York Post reveals today the surprisingly logical reason that some restaurants hear “medium-rare” and go straight to “blue-rare.” Meat costs are high and only getting higher, so if a diner sends their meat back for being overcooked, it goes straight in the bin. TBar Steak & Lounge owner Tony Fortuna tells the Post that “he spends $34 to buy a 24-ounce, dry-aged cut of rib-eye, and, if one customer finds their steak overcooked, ‘we lose money on the whole table.
On World Haemophilia day , let us understand a few facts about the disease Women can have haemophilia too: In a very rare condition called ‘female haemophilia ’, both the X chromosomes have the faulty gene. To know more about the treatments available for haemophilia click here.
p class="MsoNormal"strongspanWorld Haemophilia Day 2015: Facts about Haemophilia /span/strong/pp class="MsoNormal"It’s Haemophilia is an inherited bleeding disorder that prevents blood from clotting properly. The main symptom of this rare disease is uncontrolled
World Hemophilia Day was first observed in 1989. For more than five decades, the WFH has been trying to get treatments for the condition across to places where people are not even aware that such a disorder exist.
According to, “Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally.”
Some of the symptoms of the rare condition include inexplicable, excessive bleeding from injuries, especially after surgery or dental work, suffering unnatural number of large or deep bruises, bleeding after vaccinations, pain, swelling or tightness in joints, blood in urine or stool, random nose bleeds in infants and irritability without a proper cause.
Here are a few more facts about the genetic disorder:
Your Guide to Mosquito and Tick Diseases
There are proven ways to protect yourself (and your family) from all these diseasesMosquitoes and ticks are spreading more rapidly than ever, both across the U.S. and around the globe. And with each new season, the list of diseases they carry grows longer.
Although rare diseases affect few people but are known to exert a significant impact on the overall public health. Moreover, rare diseases are indeed not Here is a list of some rare diseases in India. Hemophilia : Also known as the “Royal disease ”, it is a rare genetic disorder in which the blood fails
Hemophilia affects all ethnic groups equally throughout the world . Although men are mostly Hemophilia C is a rare deficiency of clotting factor XI, also known as plasma thromboplastin antecedent Hemophilia News Today is strictly a news and information website about the disease .
- For people suffering from hemophilia, a slight bump on the head can cause internal bleeding. Due to the lack of clotting agents present in the blood, the condition can end up causing hemorrhage inside. Some of the symptoms that lets one know that one is experiencing prolonged internal bleeding are long headaches, repeated vomiting, double vision, lethargy or sleepiness, weakness or clumsiness and convulsions or seizures.
- While most forms of hemophilia are inherited, 30 percent of the cases diagnosed have no history of the condition running in the family. In these people, a sudden change in one of the genes associated with hemophilia triggers the condition inside one’s body.
- About 1 in 10,000 people are born with hemophilia and the condition affects around 400,000 people across the globe, according to WFH, reported.
- There are two kinds of hemophilia - hemophilia A (due to factor VIII deficiency) and hemophilia B (due to factor IX deficiency). The first kind is more common than the second one and the method of treating both are different from each other.
- Not everyone who is affected by the disease show the same symptoms. The condition may range from mild to severe in people who experience it.
- There is no permanent cure for the condition but certain kind of treatments can help a hemophilia patient live a normal life. One of these treatments includes getting injected by a genetically engineered clotting factor medication, that helps prevent prolonged bleeding.
Sanofi co-developed drug trials suspended after death
Clinical trials of a hemophilia A and B drug candidate, developed by US biotech Alnylam Pharmaceuticals in partnership with French group Sanofi, have been suspended in the United States after the death of a patient, announced Thursday the two companies.
A "fatal thrombotic event occurred in a patient with hemophilia A" included in a phase II study of fiturisan, an experimental treatment of Alnylam co-developed with Sanofi, which also holds co-marketing rights, according to a French group release.
Therefore, Alnylam "has suspended the administration of the fiturisan in all studies that are currently devoted to it" pending the in-depth review of pharmacovigilance and the development of a risk mitigation strategy with this product, is -He specifies.
Alnylam, however, intends to resume the administration of the drug as soon as possible, subject to the agreement of the regulatory authorities concerned.
"It's not positive [...] but the product is relatively small"
On the Paris Bourse, this announcement led Sanofi in the red Thursday: the title gave up 0.80% to 81.72 euros, at 4:20 pm (14:20 GMT), while the CAC 40 index was up 0.30% at the same time. Alnylam, as the first concerned, dropped him by around 14% on the Nasdaq.
"This is not positive for Sanofi, but the product is not dead and it is relatively small in the group," commented a Paris analyst interviewed by AFP.
In 2014, Sanofi raised 12% of Alnylam's capital for $ 700 million, at the same time obtaining commercial rights on several of its drugs in development in rare diseases, including the fiturisan.
6 Things Doctors Often Say to Women, But Not to Men .
A man with Dercum's disease, a rare condition affecting mostly women, and involving painful growths of fatty tissue, shares why he thinks women are often unfairly discriminated against by medical providers. I have Dercum’s disease, an extremely rare condition that is predominantly found in females. I belong to multiple support groups on Facebook, like this one. I have known for a long time that women are treated differently than men are by medical providers, and these differences in treatment (or should I say lack of treatment) are hurtful and dangerous.