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Steroid Responsive Encephalopathy

Steroid Responsive Encephalopathy

Steroid Responsive Encephalopathy 

With a series of blogs and a 50% off on all tests, Dante Labs is thrilled to work with Dazzle4Rare to make Whole Genome Sequencing accessible to more people and help them live a better life. 
Maddy Boehme has shared her story.

About #Dazzle4Rare

Dazzle4Rare represents a group of non-profit communities, patients, and caregivers across genetic and acquired conditions. Banding together means to finally have a voice, thanks to social-strategies in order to reach each other’s friends and family networks. 
By sharing stories, people have an opportunity to raise a greater awareness and, finally, to be heard. 
The more they speak up and speak out, the more likely they are to reach those who may need to hear their message the most.
Dante Labs is happy to give its voice and help them share their words.

Maddy Boehme's story

My life has definitely been far from what I ever expected for myself and I’ve come to appreciate the unexpected as it’s brought me to places, people, and opportunities that I never would have imagined.

At the age of 16 I began to experience some weird neurological problems and was eventually diagnosed with a rare autoimmune condition called Autoimmune Encephalitis, a disease in which the body mistakenly decides to attack the brain. Everything I expected high school and college to be for me was drastically changed as I spent years battling this rare, poorly-understood, unpredictable disease. 
I went from being a straight A student who excelled in school with high expectations for herself to struggling with school, faced with overcoming new
challenges that come with a disease that affects the brain such as ADHD, dyslexia, depression, and anxiety. I struggled to keep friends as at times I was very unpleasant to be around and found myself missing out on the expected high school experience. The complications from the disease at times left me homebound and unable to attend school or have any kind of a social
life. While my classmates were out finding dates for the prom or attending school football games, I was spending most of my time in the local ER, in the hospital, or at doctors’ appointments desperately searching for an answer to what was going on with me.

On my 19th birthday after spending years finally getting my disease somewhat under control but still not functioning at a normal level, I was told by my doctor that there was nothing more he knew to do for my disease and all my expectations of getting back to my normal self were yanked out from under me.

I was completely devastated I would never be the same again, but something in me clicked. I came to an epiphany that life wasn’t about waiting around to get
better, it was about going out and creating a life for yourself despite your circumstances. I finally let go of every expectation I had of getting better and being my old self again and began living.

From that point on in my life I can honestly say I have done more living in the past almost 3 years of my life than I did in the 19 before.

Using my newly found courage and passion for life, I started sharing my story publicly to encourage people to let go of every expectation they have about life and to go out and create a life that defies the ordinary. I began advocating for Autoimmune Encephalitis and Hashimoto’s Encephalopathy, realizing I was one of the lucky ones to receive a diagnosis and treatment. I joined Hashimoto’s Encephalopathy SREAT Alliance and was given several amazing opportunities to speak about my disease and connect with others dealing with the same things
as me. Through this unexpected adventure life threw my way, I learned that life is about taking the challenges we’re given and defying expectations. We don’t get to choose the “rare” unexpected circumstances we’re given, but we do choose how we respond.

Series 3: Steroid Responsive Encephalopathy Associated with Autoimmune Thyroiditis (Hashimoto encephalopathy)

As a way to raise awareness around rare diseases, Dante Labs has decided to create a series of blogs to give people a higher understanding of Steroid Responsive Encephalopathy Associated with Autoimmune Thyroiditis, also known as Hashimoto encephalopathy.

Steroid Responsive Encephalopathy Associated with Autoimmune Thyroiditis is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause is not known, but may involve an autoimmune or inflammatory abnormality. It is associated with Hashimoto's thyroiditis, but the nature of the relationship between the two conditions is unclear. Most people with this condition respond well to corticosteroid therapy or other immunosuppressive therapies, and symptoms typically improve or resolve over a few months.

Symptoms are several: they most often include sudden or subacute onset of confusion with alteration of consciousness, or multiple episodes of neurological deficits with cognitive dysfunction. Some people experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. Also, symptoms may include seizures and myoclonus or tremor.

Advantages of getting the Whole Genome Sequencing for Steroid Responsive Encephalopathy Associated with Autoimmune Thyroiditis

Genetic tests for people with Steroid Responsive Encephalopathy Associated with Autoimmune Thyroiditis were far from routine as they used to be limited and too expensive. Whole Genome Sequencing is changing the scenario, as it is comprehensive and gives better chances to yield diagnostics results, change lives. They are not intended to diagnose Steroid Responsive Encephalopathy Associated with Autoimmune Thyroiditis  — no known mutation leads to the condition every time -  but results can substantially alter the course of treatments or prevention.

  • Genetic testing provides insight into the bigger picture
    It will identify mutations and defects that cause insidious injuries not easily seen by other test techniques. Identifying whether you carry a genetic mutation your genetic mutation can help you determine if you are eligible to enroll in certain clinical trials, the correct one for you.
  • Individualized treatment 
    People with a specific genetic mutation will produce better responses and more effective therapies.
  • For families
    It offers you the chance to enlighten your family members of the potential predisposition: through precise genetic testing results; you can get a glimpse of the probability of a family member getting a given gene-linked disorder.
  • For the entire community
    It helps you to find the right way forward. Beyond benefits for the individual, sequencing exomes may be the only way scientists can uncover the full list of mutations related to autism. Understanding the connection between Autism and genetics can help us understand how the disease develops and ultimately how it can be treated or cured.

Dante Labs will offer its continued support: Whole Genome Sequencing and Whole GenomeZ at 50% off using DAZZLE4RARE discount code.

Together is better!

 

(Maddy BoehmeHESA website, on Twitter + IG @hesaonlineorg)