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Rare Disease Day Video Project

I am seeking to help as many rare disease communities as possible share a message about how important rare disease research is to them. I am encouraging rare disease patients, family, and loved ones (even clinicians) to share a 30 to 60 second clip of what rare disease research means to them.

If you wish to record more information, you can also use the below “script” but it’s not necessary. It would be great if you would say, “Share rare awareness today. This message you share today may save a life. I dazzle for rare.

To record a message from your smart phone, tablet, or other computer, click the “record” button at the bottom of this page. You may be asked to allow access to your smart phone, tablet, or web cam – please select “yes.”

Record and watch the video back BEFORE submitting, please. If you submit a video on accident, please use the form at the very bottom of this page.

 

“Hi, my name is ____.”

 

 

“I am ____ years old.”

You do not have to include your age if you do not wish to do so.

 

“I was diagnosed with ___ ___ years/months/weeks ago.”

 

“When my symptoms first began, …”

Talk about the onset of your symptoms, events that may have triggered symptoms, or the moment you knew something was really wrong such as a trip to the ER, etc.

 

“On a daily basis, I experience …”

Talk about a typical day (if there is such a thing).

Also talk about the emotions you feel and the way other perceive you and how that affects you as well.

 

“This disease has affected my ability to …”

Talk about effects disease has had on your quality of life, family, and friends.

 

“The scariest thing/incident/symptom of this disease, for me, has been …”

Talk about an incident, symptom, or other that has been the hardest or frightened you the most.

 

After finishing the questions and answers, please ask the viewer to “share” this video to help raise awareness.

To record a video from this page, click “Rec” below.

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This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Stanford University Video Library

Stanford University offers many education videos about epilepsy on their website, http://neurology.stanford.edu.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Accused of Being a Hypochondriac, Lisa is Finally Diagnosed with Acute Intermittent Porphyria

A swollen stomach made her look pregnant, but the pain — “burning,” “shocking,” “horrible,” “out-of-this world,” as she describes it — was worse than childbirth, leaving her doubled over and gasping for breath. Symptoms came and went, seemingly at random. Vomiting. Constipation. High blood pressure. A racing pulse. Numbness in her hands. Paralysis in her right foot.

The full article can be found at GlobalGenes.com.

Copyright © Author Michael Overall

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: The Multitasking Mast Cell: Positive and Negative Roles in the Progression of Autoimmunity

Among the potential outcomes of an aberrantly functioning immune system are allergic disease and autoimmunity. Although it has been assumed that the underlying mechanisms mediating these conditions are completely different, recent evidence shows that mast cells provide a common link. Mast cells reside in most tissues, are particularly prevalent at sites of Ag entry, and act as sentinel cells of the immune system. They express many inflammatory mediators that affect both innate and adaptive cellular function. They contribute to pathologic allergic inflammation but also serve an important protective role in bacterial and parasite infections. Given the proinflammatory nature of autoimmune responses, it is not surprising that studies using murine models of autoimmunity clearly implicate mast cells in the initiation and/or progression of autoimmune disease. In this review, we discuss the defined and hypothesized mechanisms of mast cell influence on autoimmune diseases, including their surprising and newly discovered role as anti-inflammatory cells.

The full study can be found at http://www.jimmunol.org/content/179/5/2673.full.

This study was posted by G.D. to this thread on 29th October, 2014 in comments – https://www.facebook.com/groups/564512313648230/permalink/589522931147168/.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Autoimmune Encephalitis

Abstract:

The term autoimmune encephalitis is used to describe a group of disorders characterised by symptoms of limbic and extra-limbic dysfunction occurring in association with antibodies against synaptic antigens and proteins localised on the neuronal cell surface. in recent years there has been a rapidly expanding knowledge of these syndromes resulting in a shift in clinical paradigms and new insights into pathogenic mechanisms. Since many patients respond well to immunosuppressive treatment, the recognition of these disorders is of utmost importance. in general, there are no brain-imaging modalities or biomarkers specific of these disorders other than the demonstration of the neuronal antibodies. a disease classification based on these antibodies provides information on prognosis and paraneoplastic aetiology. This article focuses on recent clinical advances, newly characterised antibodies and treatment approaches to these disorders.

The full text to this study by Frank Leypoldt, Klaus-Peter Wandinger, Christian Bien, and Josp Dalmau, can be found at http://www.touchneurology.com/articles/autoimmune-encephalitis.

This study was posted by G.D. on 31st October to this tread – https://www.facebook.com/groups/251477975360/permalink/10154711691935361/.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Iron in Chronic Brain Disorders: Imaging and Neurotherapeutic Implications

Iron is important for brain oxygen transport, electron transfer, neurotransmitter synthesis, and myelin production. Though iron deposition has been observed in the brain with normal aging, increased iron has also been shown in many chronic neurologic disorders including Alzheimer’s disease, Parkinson’s disease, and multiple sclerosis. In vitro studies have demonstrated that excessive iron can lead to free radical production, which can promote neurotoxicity. However, the link between observed iron deposition and pathologic processes underlying various diseases of the brain is not well understood. It is not known whether excessivein vivo iron directly contributes to tissue damage or is solely an epiphenomenon. In this article we focus on the imaging of brain iron and the underlying physiology and metabolism relating to iron deposition. We conclude with a discussion of the potential implications of iron-related toxicity to neurotherapeutic development.

The full study can be found at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1963417/. Posted by G.D. on 24th April 2015.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions

Background: Several clinical studies point to a high prevalence of psychotic symptoms in frontotemporal dementia associated with C9ORF72 mutations, but clinicopathological studies addressing the association between C9ORF72 mutations and delusions are lacking.

The abstract of this interesting study can be found at http://jgp.sagepub.com/content/early/2014/10/20/0891988714554710.abstract.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: SAT-064: Autoimmune Thyroid Disease Associated with Steroid-Responsive Encephalopathy: A Case Report on Hashimoto′s Encephalopathy

Hashimoto’s encephalopathy (HE) is a rare and underdiagnosed clinical entity presenting as a neuropsychiatric syndrome, associated with serologic evidence of antithyroid antibodies after other causes of encephalopathy are excluded. The main hallmark of HE is its good prognosis and responsiveness to steroids and immunosupressants. We report a case of a patient with elevated thyroid antibodies presenting with aphasia, confusion and lethargy, dramatically improved after steroid therapy.

 

The abstract can be found at http://press.endocrine.org/doi/abs/10.1210/endo-meetings.2015.THPTA.8.SAT-064.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Video: Proof of Dissociative Identity Disorder (DID)

Autumn Asphodel talks about proof of her DID. You can see all her videos by going to her youtube page.

Is dissociative identity disorder (DID) / multiple personality disorder (MPD) real or fake? It is a real condition that stems from past trauma, denial, and/or dissociation. Proof comes from how it correlates with hypnosis. However, factitious disorder, hypochondria, and iatrogenesis, are all ways it can be faked, or even unintentionally or intentionally caused by someone else, or the individual themselves. Self-diagnosis can also be dangerous, so be careful.

1:08 – Origin (Reason to Dissociate)
3:19 – Correlation with Hypnosis
10:29 – Intentional & Faking

 

 

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Video: The Baby Who Smelled Like Pancakes – Mystery Diagnosis

For many decades, Carole Battle has been a healthy, active mother and watercolor artist, when suddenly, she starts having balance problems. Initially, it appears to be an infection of her inner ear, but soon, Carole also develops dizziness, and eventually, speech impediments. It turns out that Carole has had cancer that is being kept in check by a rare autoimmune disease called paraneoplastic cerebellar degeneration (PCD).

Since young Rachel Webb has been born, her parents have been worried about her. She has urine that smells like maple syrup, cries constantly for no apparent reason, has feeding problems, and becomes unresponsive for a while. Eventually, Rachel goes into a coma, but fortunately, the doctor finds out that she has maple syrup urine disease.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.