Toddler’s Strep Throat Triggers Neurological Autoimmune Disease

Nate Kenoe, pictured above, developed a frightening autoimmune disease after strep throat

Nate Kenoe was a vibrant, energetic 4-year-old boy. Unfortunately, he had had a string of illnesses, testing positive for strep throat five times over the course of eight months. Each time, it wasn’t immediately clear that Nate had strep throat- oftentimes, he didn’t even have a sore throat! Instead, he presented with less common symptoms, such as bad breath or a sore on his butt. When he would finally get diagnosed with strep throat, he had to take a less effective antibiotic treatment, due to his allergy to penicillin.

Eventually, Nate developed even more disturbing symptoms that weren’t in line with strep throat. He began to have sensory issues, feeling pains in his feet as if he were walking on rocks, experiencing coldness in his shoulders, and other tics. He also had dramatically changed behavior, including vomiting at the sight of food, urinating multiple times an hour and banging his head.

Thankfully, an attentive pediatrician recognized Nate’s symptoms as pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection, known as PANDAS for short. PANDAS is a little-known autoimmune disease primarily occurring in children between the ages of 3 and 12. With this disease, strep throat opens the blood-brain barrier, allowing abnormal immune cells to enter the brain and cause neuro inflammation. It has been compared to autoimmune encephalitis (AE), another autoimmune neuropsychiatric disorder.

The PANDAS network estimates that 1 in 200 children could have PANDAS; however, this autoimmune condition is often under-diagnosed or misdiagnosed due to its similarity with other conditions such as Tourette’s syndrome and Obsessive-Compulsive Disorder (OCD). Nate’s own mother, a pediatric nurse, hadn’t even heard of the condition before.

Nate received antibiotics, anti-inflammatory medications and had a surgery to remove his tonsils as a treatment for his PANDAS. As her son received treatment, his mother learned that PANDAS is in fact a controversial disease. Many physicians are skeptical that this autoimmune disease even exists, while others believe that there needs to be a standardized method for diagnosis and treatment.

One year later, Nate is faring much better than last year. However, if he gets sick, such as with a cold or virus, it will trigger another autoimmune ‘flare’ resulting in more sensory issues. Ultimately, Nate’s family hopes that by sharing his story, they can raise awareness about PANDAS, and in turn, help the disease get more research funding.

To learn more about PANDAS and Nate’s story, click here.

Top News in Autoimmune Disease – October 20, 2019

Evidence of autoimmune response in patients with autism

Autism impacts 1 in 59 American children by age eight and can seriously impair social skills and communication, and lead to repetitive behaviors and restricted interests. For the first time, a team of Boston, Massachusetts-based physicians and scientists have published a report detailing evidence of an autoimmune response against brain cells in patients with autism.

Matthew Anderson, MD, PhD, was the lead researcher in the study. His team analyzed brain tissues donated through Autism BrainNet, a non-profit tissue bank, and noticed that over two-thirds of the brains examined contained three uncommon characteristics.

Firstly, they noted the accumulation of immune cells surrounding blood vessels in the brain (called perivascular lymphocyte cuffs). Secondly, they found that there were bubbles or blisters (that scientists call blebs) accumulating around these blood vessels. Finally, upon further examination, they found that these blebs contained debris called astrocytes.

These findings are evidence of an autoimmune response and chronic inflammation in the brains of patients with autism. The scientists also compared the autistic brains to those of non-autistic donated tissues, and the presence of these findings in the autistic patients ‘significantly surpassed’ that of the control cases.

Although this study does not definitively prove that autism is an autoimmune disease, it is a first step in finding evidence of an immune response for this neurological condition. Anderson compared his team’s findings to research that multiple sclerosis (MS) is an autoimmune disease caused by the immune system’s destruction of the nerves’ myelin sheath.

To read more about this astonishing study, click here.

Family of woman with scleroderma seeks financial support

Yesenia Garica, 25, of Newhall, Santa Clarita, California, first began experiencing debilitating symptoms five years ago. However, it took years for her to get a diagnosis of scleroderma – an autoimmune condition that primarily affects the skin.

Symptoms of scleroderma include hardened and thickened skin, ulcers and sores on the skin, joint pain, muscle weakness, intolerance to cold, high blood pressure, blood vessel damage, and scarring of the lungs.

Yesenia has been hospitalized six times and had surgery three times this year alone. As a result, she now weighs a mere 74 lbs. Unfortunately, her health insurance does not cover the medication that she is taking to treat her symptoms. As such, her family has set up a GoFundMe campaign so that Yesenia can continue to take the medication and to cover specialized treatment at UCLA. So far, the campaign has raised $4,700 out of the $10,000 goal.

To learn more about Yesenia’s condition and to contribute to her GoFundMe campaign, click here.

Top News in Autoimmune Disease – Sept. 22, 2019

Kim Kardashian West gets an ultrasound of her hand, leading to a ‘painful and scary’ diagnosis.

Kim Kardashian West Discusses ‘Painful and Scary’ Autoimmune Diagnosis

Celebrity and business mogul Kim Kardashian West discussed her recent autoimmune diagnosis on an episode of Keeping Up with the Kardashians. During the episode, Kardashian West visits a doctor with symptoms including pain, swelling and stiffness in her joints. She already has an autoimmune condition called psoriasis that causes red, flaky and scaly patches to appear on her skin, which she had developed at age 25 after catching a cold. Now, at age 38, she was informed that her psoriasis has morphed into psoriatic arthritis.

According to the National Psoriasis Foundation, 125 million people worldwide suffer from psoriasis. Furthermore, it’s estimated that 1 in 5 individuals with psoriasis will develop psoriatic arthritis in their lifetime.

Kardashian West said that her symptoms, including joint pain in her hands, got so bad that she was unable to even pick up a toothbrush. An initial blood test she took came back as positive for lupus and rheumatoid arthritis, but it was later shown to be a false positive after a review of her symptoms and getting an ultrasound of her hands.

Despite the harrowing diagnosis, Kardashian West is maintaining a positive attitude, saying “It’s still painful and scary, but I was happy to have a diagnosis. No matter what autoimmune condition I had, I was going to get through it, and they are all manageable with proper care.”

The star also bonded with fellow beauty mogul and fashion model Winnie Harlow, who has an autoimmune condition called vitiligo. As she revealed during a recent interview with Jimmy Fallon, Kardashian West spoke to Harlow for over an hour to get her ‘opinion and advice’ on her autoimmune diagnosis.

To learn more about psoriasis and psoriatic arthritis, visit the National Psoriasis Foundation website.

J.K. Rowling has made a multi-million dollar donation to fund MS research, at a clinic named after her late mother

J.K. Rowling Donates Millions to Fund Multiple Sclerosis (MS) Research

J.K. Rowling, renowned author of the Harry Potter book series, has made a generous donation to fund Multiple Sclerosis (MS) research in the U.K.

Her donation, in the amount of 15.3 Million British Pounds (equivalent to $18.8 Million USD), will be used to construct a new facility for the Anne Rowling Clinic at the University of Edinburgh, which is dedicated to MS research.

The Anne Rowling Clinic was established at the Scotland-based university in 2010, when J.K. Rowling had made another generous donation to fund MS research. The clinic was named after her mother, who suffered from MS and passed away due to complications from the disease at the young age of 45.

Rowling has said that she is immensely proud of the work that the clinic has accomplished, and that they are providing “practical, on the ground support and care for people with MS.” The University’s Vice Chancellor, Professor Peter Mathieson, also commented, “We are immensely honored that J. K. Rowling has chosen to continue her support for the Anne Rowling Regenerative Neurology Clinic. This inspiring donation will fund a whole new generation of researchers who are focused on discovering and delivering better treatments and therapies for patients.”

To learn more about the Anne Rowling Clinic and to view a video of their important work, click here.

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How a 71-year-old man got diagnosed with Autoimmune Encephalitis (AE)

Robert Given was a 71-year-old Accountant who ran his own CPA firm and was heavily involved in his local community. Although he didn’t have any prior history of autoimmune disease, he suddenly found himself impacted by a severe autoimmune condition.

While dining out with friends, Given suddenly slumped over, had a seizure, and urinated on himself. Restaurant patrons helped him to lay on the floor and called an ambulance. By the time the ambulance arrived, he had regained consciousness but was confused, refusing to step into the ambulance until his wife told him to.

After being evaluated by a number of physicians, including an internist and a neurologist, the medical professionals made several interesting discoveries. Given had had a sudden drop in blood pressure that was uncharacteristic for someone with well-controlled high blood pressure like himself. His wife also reported that he was losing his balance, had difficulty sleeping and sometimes had slurred speech. He was also highly talkative, to the point that it appeared to be logorrhea – a constant need to talk, even if the speech is often incoherent and repetitive.

Given had a second seizure, and was once again transported to the hospital. After this second episode, his doctor pondered what condition could possibly cause a sudden onset of both neurological and psychiatric symptoms. He hypothesized that his patient might have either Multiple Sclerosis (MS), or some type of heavy metal toxicity and ordered a round of tests to see if this was the case.

The tests came back negative for MS and heavy metals, and his medical team thought that they had to go back to the drawing board. Suddenly, however, his internist Dr. Hersch realized that he had seen a similar case several years prior; the patient had died, but his test results had revealed that he had autoimmune encephalitis (AE), a group of conditions in which the immune system mistakenly attacks the brain.

Dr. Hersch ordered a new round a tests that confirmed that Robert Given did indeed have a type of autoimmune encephalitis caused by a rogue antibody called CASPR2. Symptoms included fluctuations in blood pressure and heart rate, loss of balance, insomnia, and personality changes, and the majority of patients were men over the age of 65- just like Given!

Given has been receiving treatment for his condition at the Mayo Clinic for the last three years. Due to the difficult nature of this disease, his recovery is slow, but he is relieved to have been diagnosed in time to receive life-saving medication.

The Autoimmune Encephalitis Alliance says that while Given is lucky to have received a diagnosis, their aim is to raise awareness so that others with AE do not have to rely on luck to determine the outcome of the disease.

To read the original story by Dr. Lisa Sanders from the New York Times, click here. Also, check out this trailer for Brain on Fire, a movie based on a real-life story of a woman with AE.

Top News in Autoimmunity – Week of Feb. 13, 2019

Benefit Event Organized for New York Woman with Scleroderma

A benefit event has been organized by the friends of Krislyn Manwaring, a 25-year old woman with Scleroderma living in Erin, NY.

Scleroderma is an autoimmune condition that causes the body’s soft tissue to harden. Manwaring, who is now on oxygen, is in need of a stem cell transplant. However, her health insurance won’t pay for it.

The benefit event will raise funds to go towards Manwaring’s transplant procedure. According to the event’s Facebook page, over 200 attendees have already RSVP’d for the event.

Young Woman Shares Journey with Autoimmune Encephalitis

Tori Calaunan, a young woman from Las Vegas, shares her journey with anti-NMDA receptor encephalitis with the Autoimmune Encephalitis Alliance.

While in nursing school, Calaunan felt some weakness in her right leg, but brushed it off as nothing serious. As the weakness continued to worsen, she also experienced confusion and dizziness. She passed a neuro test and MRI, however, and doctors told her that everything was fine.

She eventually checked into the ER, and stayed there for a month before transferring to a hospital in California, where she finally received her diagnosis of Autoimmune Encephalitis.

Family of Young Man with Rare Autoimmune Disease Outraged Over Drug Price Hike

Will Schuller, from Overland Park, Kansas, was 18 when he began experiencing extreme weakness. An avid runner, he was pulled out of high school when he struggled to walk down the hall, and stopped being able to go up the stairs.

He was eventually diagnosed with Lambert-Eaton Myasthenic Syndrome (LEMS), a chronic autoimmune disorder than affects muscle strength. LEMS is reported among 3,000 people in the US, and can dramatically impact one’s quality of life.

Schuller was prescribed a drug called 3,4-DAP, which made him feel better instantly. The drug was free as a result of an FDA program called ‘compassionate use’. The drug’s manufacturing rights, however, were sold to a company called Catalyst, which renamed the drug Firdapse, and raised the price to $375,000/year for the medication.

Schuller’s family decried the extreme price hike, stating that if it hadn’t been for this medication, their son would certainly be in a wheelchair. Senator Bernie Sanders of Vermont called the price increase a ‘fleecing of American taxpayers’.

Schuller is now a senior studying mechanical engineering at the University of Tulsa. Read more about his story here.

Interested in reading more? See last week’s top news in autoimmunity here.

Top News in Autoimmunity – Week of Dec. 19, 2018

NMO

Edmonton fighter diagnosed with rare disease

Victor Valimaki, a 37-year old professional fighter from Edmonton, Alberta, Canada, was left crippled by a rare autoimmune disorder.

Although Valimaki has fought in over two dozen professional fights, leading him to a successful career as an Ultimate Fighting Championship (UFC) mixed-martial arts fighter, he was recently diagnosed with neuromyelitis optica (NMO), otherwise known as Devic’s disease.

This autoimmune condition affects the body’s optic nerves, spinal cord and brain. For Valimaki, the disease caused him to lose his vision, speech, and ability to walk. Although he has since regained his sight, he is still struggling with the other consequences of the disorder.

Read his full story and watch the video on CTV News Edmonton.

Italian biotech company raises 17M€ to fund gene therapies for autoimmune diseases

An Italian biotechnology company named Altheia raised over 17 million euros this week to fund gene therapies that could potentially treat many incurable autoimmune diseases.

The company’s technology, which uses gene therapy to engineer bone marrow stem cells to express a molecule called PD-L1 that inactivates the immune system’s T cells. In other words, the molecule released will ‘hit the breaks’ on the body’s immune system, avoiding an immune system attack on healthy tissue.

Paolo Rizzardi, the company’s CEO, has stated that he expects clinical trials for autoimmune conditions such as multiple sclerosis and type 1 diabetes to begin in 2021.

Read more about this exciting new development on LABIOTECH.eu.