Man in Oregon contracts the plague: How often does that happen?
A very rare occurrence, especially in the U.S.: An Oregon man in his 50s contracted the “Black Death” plague while trying to remove a dead rodent from a stray cat’s mouth. While somewhere between 1,000 and 3,000 instances of the plague— yes, the same plague that devastated a third of Europe’s population in the 14th century — only ten to fifteen instances happen in the U.S. each year (this being the fifth incidence of plague in Oregon since 1995). Instances of plague are so rare that vaccination against it is no longer sold in the States, although it does exist. The man was still in critical condition in a hospital in Bend, Oregon as of Friday, and is being treated with antibiotics. (EDIT: As ajoyner notes below, New Mexico has had a number of cases, strangely, in affluent areas.) source
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Don’t Stop Research on Rare Diseases!
This is a petition to make sure that research concerning rare diseases in the European Union can continue to happen.
As a sufferer of a rare disease, it would mean a lot to me if people could take the time to look at this petition, all support is needed!
Please sign the petition here!
A once in a lifetime patient..
Kasabach-merritt syndrome.
Is a very rare disease that affects the blood vessels. Creates a large reddish-brown tumor consisting of abnormal blood vessels. This can grow very rapidly. within 48 hours, my patients mass went from 2cm to 12cm x 10 cm, located on the lateral thorax.
This mass can be life threatening if not treated or diagnoses in time, and also causes low levels of platelets, which may cause bleeding and frequent bruising. Thrombocytopenia can also be life threatening.
My patient today, was a 5 month old baby boy. His name was Pawel and he was the cutest thing I have ever seen. So happy and willing to let 6 student doctors examine him. He was being treated with vincristine, a mitotic inhibitor used in chemotherapy.
After just 3 treatments, the mass of the patient reduced in size by 300%. It was amazing to see such a result. But as I was told today, children handle chemotherapy much better than adults.
I was also taught on Acute lymphoblastic leukemia and acute myeloblastic leukemia.Children with acute lymphoblastic leukemia have an 80% success rate to over come the disease, where as adults have a higher success rate of over coming acute myeloblastic leukemia as opposed to the other, and vice versa.
Overall a very successful and intriguing morning. Couldn’t have asked for a better day. :)
what would life be without goals?
Goals are what keep us motivated. What keep us strong when times are hard. What keep us standing and trying again when everything falls
Having a goal in your life is a blessing. It makes everything easier, more standable. Because you know that everything you are doing HAS a purpose: you can see your goal, you can rejoyce for everything that makes you progress towards it :)
My goal is to make the difference. My goal is to put all of myself at the service of people suffering from rare diseases. I’ve been blessed by a good brain and a quite high IQ (I’m not flattering myself xD I’m smart xD) …I’m not religious, but I think I have to put what I’ve been gifted to at the service of the world.
Rare diseases patients suffer from the double problem of having severe conditions (some ARE very severe) and unknown ones. Try to ask to a doctor what Pompe’s disease is. If you are lucky, you could get some who remembers it from university. Most pediatricians have never seen a case of Pompe’s disease, most of them don’t know what those kids need. But those kids can’t be left alone.
The fact that a condition is rare doesn’t allow ANYONE to ignore it .Awareness for rare diseases is super important, cause often the first you get the diagnosis the better you’ll go, the less you’ll risk.
“Rare” children are the most inspiring people in the world. You see them being happy, being positive, being children…yet you know they are struggling through very serious issues. I’ve seen a little girl dancing with her wheelchair just as another kid would do on her feet. She was so natural…as if the wheelchair didn’t bother her. And I’ve heard of another kid who was so happy of his wheelchair, cause it would allow him to run around :)
They are superheroes. And I really…really want to help them.
ps: Se c’è qualche italiano che mi legge..sacrificate un euro della vostra ricarica telefonica in favore di Telethon! Anche voi potete fare la differenza… ogni euro donato è un euro devoluto ai nostri policlinici universitari ed istituti di ricerca per progetti di studio e di progettazione di terapie per le malattie rare. :)
Answer: MCQ #18
Answer: d. Wolman’s Disease
This question was asked in May 2011 AIIMS exam.
Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain lipids inside the cells. Deficiency of the LAL/LIPA enzyme causes a build-up of fat in the liver, gut and other parts of the body.
The signs and symptoms of Wolman disease usually appear shortly after birth, typically in the first few weeks of life. Affected infants may have the following:
Feeding difficulties with frequent vomiting
Diarrhea (loose frequent stools)
Swelling of the abdomen (abdominal distention)
Enlargement of the liver (hepatosplenomegaly) and spleen (splenomegaly)
Failure to gain weight or sometimes weight loss
The accumulation of fat in the walls of the gut in Wolman disease leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food. The malabsorption associated with Wolman disease is often accompanied by persistent and often forceful vomiting, frequent diarrhea, foul-smelling and fatty stools (steatorrhea). Because of these digestive complications, affected infants usually fail to grow and gain weight at the expected rate for their age (failure to thrive).
As the disease progresses, increasing fat accumulation in the liver leads to other complications including yellowing of the skin and whites of the eyes (jaundice), and a persistent low-grade fever.
A distinct finding associated with Wolman disease is the accumulation of chalky material (calcification) in the adrenal gland.
The adrenal glands are located on top of the kidneys and produce hormones (chemicals that help regulate various functions in the body).
Calcification of the adrenal glands is not detectable by physical examination, but can be seen with an X-ray, CT scan or other imaging investigations. This finding is very useful in helping make a diagnosis as there are very few other conditions that cause vomiting, failure to gain weight and adrenal calcification. Not all cases of Wolman disease show this finding and diagnosis in these cases is more difficult and often delayed. Calcification may prevent the adrenal glands from producing enough essential hormones and can affect metabolism, blood pressure, the immune system and other vital processes of the body. It has not been definitely established in Wolman disease that the adrenal calcification causes abnormalities in adrenal function.
The complications of Wolman disease progress over time, eventually leading to life-threatening problems such as extremely low levels of circulating red blood cells (severe anemia), liver dysfunction or failure, and physical wasting (cachexia). Very few infants with Wolman disease survive beyond the first year of life.
Akinetopsia.
This is one of the coolest rare neurological disorders to study. Akinetopsia (ah-keen-eh-top-see-uh) is also known as motion blindness, as it causes people to be unable to see objects in motion. They can see stationary objects with no problem. To these people, the world becomes a still life.
Most everything that’s known about akinetopsia is the result of studying Leibold Gisela (aka LM), who first showed signs of the disorder in 1978. Brain lesions, traumatic brain injury, and Alzheimer’s can cause akinetopsia. What’s really interesting is that magnetic stimulation can temporarily induce the disorder.
There is no cure or treatment for akinetopsia. Patients learn to depend on their other senses when perceiving moving objects. I suppose it’s a scary thing to be blind to moving objects. Let’s hope someone finds a cure soon.
Today is Rare Disease Day!
Hello everyone! Usually I’m not very serious on my blog, but today is an important day. Today is Rare Disease Day, and the point of this day is to spread awareness about rare diseases and the rare disease community. If you could take the time to read this and spread the word, it would really mean a lot to me.
Rare diseases by definition are diseases that affect a small percentage of a population. However, some estimates say that over 350 million people worldwide suffer from some sort of rare disease. So really, rare diseases aren’t that “rare.”Many cancers are considered rare diseases. However, because these diseases are considered “rare,” it’s harder for patients to get access to the proper healthcare they need. Drug companies tend to produce drugs for more “common” diseases where there is a greater demand. Likewise, as these drugs are for “rare” diseases they often end up being incredibly expensive and difficult for families to afford. For a lot of rare diseases, there isn’t an available cure at all.
Many people don’t know that rare diseases actually affect a wide variety of people across the planet. You probably know someone with a rare disease and you might not know it!
I have a personal connection with rare diseases; my cousin died of a genetic disease when he was nine years old. It was a degenerative disease that caused him to die slowly, as he lost his ability to walk, to speak, to see, to hear, to live. I watched him die. I watched my family try to take care of him even though they knew he would die. As you can imagine, this was very difficult on my aunt and uncle. It is very difficult to take care of a child who cannot eat or walk or communicate by himself. They had to hire nurses on top of the expensive treatment they had to pay for. Not to mention the emotional toll it took on them as they watched their son die. It has been thirteen years since he passed away and there still isn’t a cure for his disease.
On this day, and for the rest of your lives, please keep this information in mind, and keep the rare disease community in your heart. This community is very big despite the “rare” title it has been given. Please remember this, remember my cousin’s story and if you could, spread the word. Tell your friends and family that there are over 350 million people living with a rare disease. Thank you very much for reading this.
