By Theresa Conrick
Read LeRoy, PANDAS, Autism and EL - Will the real "Mystery Illness" Please Stand Up?- Part 1
So it is possible that medical mysteries may have some common features. A few years ago, The Today Show had a beautiful young girl on who had become famous for an odd and scary reason. She was sneezing thousands of times a day: Nov 11, 2009.
"It began, Lynn Johnson said, when both Lauren and her 10-year-old sister came down with colds in mid-October. The colds ran their course in two weeks and included the expected sneezing — big, nasal, productive sneezes.
“After she had the cold, she seemed to be feeling better for a day,” Johnson said, so she let Lauren go to a friend’s house for a sleepover. She returned home on Nov. 1 — and life suddenly went into gesundheit mode.“She came back from having the sleepover; it became a rhythmic, nonstop, chronic sneeze...
A tic, not a sneeze?
Johnson said that after trying 11 different drugs to no effect, doctors suggested Lauren might have something called “intractable psychogenic sneeze” — a little-understood syndrome that has been identified in only about 40 other people around the world....Snyderman offered her opinion. “If you peel back the layers of the onion and watch Lauren, she’s sneezing through her mouth — not a real, productive, nasal sneeze — which raises the question that perhaps this is more like a tic,” Snyderman said. “You have things like Tourette syndrome. There are things like Munchausen syndrome, where people sort of make things up to gain attention.”
Anyone else wondering if “intractable psychogenic sneeze” is some sort of a Conversion Disorder of the sinuses? Like the LeRoy teen girls, the hysteria diagnosis can affect all different body parts. It is a convenient denial of illnesses that seem to be increasing.
"Snyderman continued: “It’s not that she has chosen not to stop — she can’t,” Snyderman said. “It’s an involuntary tic that has taken over her life. It does bring up the psychological aspect of how you get to that....Snyderman emphasized that Lauren’s sneezes are not caused by a pathogen and are not contagious."
Lynn Johnson shared that Dr. Snydernan later apologized to them after this show. She said that she had made a grave mistake in inferring that there was any psychological or Munchhausen issues and that the family needed real medical help. She had the family stay late that night, the only lights visible at 10 pm that night came from the 13th floor as they met with some of the doctors who emerged to help them. The TODAY show had THOUSANDS of emails from around the world. Dr. Snyderman would devote more time the following day, this time on the air, to clear up the atmosphere of the prior day's "misdiagnosis" of Lauren and focus on a real medical direction:
"NBC's Dr. Nancy Snyderman, along with Today Show viewers,shares some advice for Lauren Johnson, the 12-year-old girl who sneezes more than 1200 times a day."
Sneezing Girl Gets Help from Dr. Nancy Snyderman and Today Show Viewers
ANN CURRY, co-host:
Back now at 7:41. Now to the latest on the 12-year-old Virginia girl who was with us on Wednesday who can't stop sneezing. It all started more than two weeks ago when Lauren caught a head cold, and then the sneezing only stops when she goes to sleep. Well, we asked for your suggestions and the response was overwhelming. And now the search for a cure is taking a new direction. NBC's chief medical editor Dr. Nancy Snyderman is back with us about this morning.
Dr. Nancy, good morning once again.
Dr. NANCY SNYDERMAN reporting:
CURRY: Before we talk about this new direction, let's talk about this response.
CURRY: Thousands of e-mails.
SNYDERMAN: Thousands of responses.
CURRY: From all over the world there was a response.
SNYDERMAN: Right. Right.
CURRY: Describe it.
SNYDERMAN: Well, a lot of people said, `I've seen things like this before.' A lot of people had anecdotal experiences, suggestions; everything from Vaseline up your nose to jump rope to chiropractic. But we really wanted to make sure that before--because we really walked to the edge yesterday talking about this little girl in front of this little girl.
CURRY: About psychological issues.
CURRY: Which was kind of a...
SNYDERMAN: And I had spoken to her mother a little bit before we came off the air.
But nonetheless, you know, we have to be very careful when you're talking about a 12-year-old that you don't talk about her and say things that are insensitive. And remember, we don't have a diagnosis. So to treat without a diagnosis is quite imprudent. So after yesterday and getting lots of responses, we then started to hook her up with a few people who we thought might have some real answers for her.......
CURRY: OK. We also got a lot of e-mails about something called PANDAS.
CURRY: Which are related to a strep infection?
SNYDERMAN: So Dr. Nicolaides was on our program before talking about PANDAS; the question, whether you can get exposed to streptococcus, it hurts your immune system and then you get obsessive compulsive disorder or tics like this. She's one of the physicians we've reached out to yesterday. Interestingly, Lauren has not had a formal streptococcal throat swab, so it's one of the first things we're going to have her do. And we're also going to have her get strep antibodies to rule out PANDAS. It's not a syndrome that's very well known, but it is one of the avenues we're exploring......
Fast-forward to The Today Show, Mar 11, 2010, four months later:
"But Wednesday Lauren sat quietly, her hands clasped between her knees as she listened to her mother and two doctors talk with TODAY’s Natalie Morales about the strange disease she had that made her sneeze continuously for four months, and how it was brought under control....An allergist and immunologist, Bouboulis realized that Lauren had a rare and only recently identified condition called PANDAS... What it means in layman’s terms is that in the process of fighting a strep throat infection, Lauren’s immune system went haywire, producing antibodies that ended up migrating to her brain and attacking her own tissue. The disorder can cause tics and obsessive-compulsive behavior — or, in Lauren’s case, nonstop sneezing...Bouboulis gave Lauren two days of IVIG treatments. After the first day, the sneezing diminished. After the second, it stopped... But Lauren and her mother’s relief is tempered by the knowledge that there is no cure for PANDAS."
I have talked with Lynn Johnson as we both have girls that have a similar illness.yet my daughter also has severe autism on top of her tics, OCD, seizures and a positive autoimmune diagnosis. When I mentioned that Megan developed a fever, rash and regression into an autism diagnosis after her MMR at 16 months, Lynn had this to say:
"Both my daughters had the extreme exacerbation of symptoms that led to the PANDAS diagnosis almost immediately following Gardisil vaccine. Do I think the vaccine single-handily caused pandas-No. I think it was the straw that broke the camel's back so to speak."
Lauren's testing never showed a positive Streptococcus reaction, either by a throat swab or blood test YET she responded perfectly to IVIG. Her infection happened to be with Mycoplasma pneumoniae, causing her symptoms and then also subsequent exacerbations. She and so many others have a compromised immune system yet it seems to be a topic that creates a deer in the headlights expression when brought up to some in the medical and research fields. Looking at Lauren's extreme reaction to bacteria reminded me of some research I saw from the 1920's on EL. It didn't involve sneezing but instead hiccups, a similar tic/contraction:
EPIDEM1IC HICCUP AND ENCEPHALITIS LETHARGICA. REPORT OF A CASE OF EPIDEMIC ENCEPHALITIS SHOWING LETHARGY, CRANIAL NERVE PALSIES, MYOCLONUS, AND HICCUP
"M. M., aged 16, a healthy-looking well developed girl, was admitted to the London Hospital on July 18th, 1923. The mother says she had St. Vitus's dance as a child. In November, 1918, she had an acute illness. She was in bed a week with severe headache, sleepy all day but restless at night, and delirious for a day or two...Three months before admission she began to have attacks of hiccup two or three times a week; the attack would last a few minutes and then stop spontaneously. On admission she exhibited cranial nerve palsies, hiccup, and also myoclonic movements of the arms and abdominal wall. This would seem to establish finally the relationship between epidemic hiccup and epidemic enceplhalitis."
This from Minnesota 1921: The Journal of the American Medical Association, Volume 76
DIAPHRAGMATIC SPASMS IN ANIMALS PRODUCED WITH A STREPTOCOCCUS FROM EPIDEMIC HICCUP
"The etiology of epidemic hiccup is obscure. Its occurrence at times in epidemic proportions suggests a microbic origin. Epidemiologic and clinical facts suggest that the cause of the condition is similar to the cause of epidemic encephalitis. Hiccup frequently occurs in cases of epidemic encephalitis. The two diseases occur simultaneously in many localities and over widespread areas of population.1 Epidemic encephalitis has occurred in persons who have had recent attacks of uncontrollable hiccup, as well as after prolonged contact with patients with epidemic hiccup.2...The tonsils appeared normal on inspection, but a considerable amount of pus was expressed from each, and a suspension of the pus obtained was made in 2 c.c. of salt solution.... Animals were inoculated directly with the suspensions... a remarkable train of symptoms developed, in which rhythmic clonic spasms of the diaphragm were the striking feature (Fig. 1). The spasms of the diaphragm varied greatly in severity and duration. In some animals the spasms were mild and were noted for short periods at one or more intervals only, and recovery was the rule. In others they were intense, associated with hiccup, and continued with little interruption for many hours, often to the point of complete exhaustion"
I did find it interesting to read many reports that described what looked to be an infectious disorder - EL, did not always get passed on to others living in the same environment, either showing that it was a vulnerable body that developed EL or that there needed to be another factor that was involved in making the bacteria particularly virulent or possibly helped establish a pathway directly into the brain. Again like the new PANS, Streptococcus was not the only bacteria to cause such profound medical and neurological symptoms. Like Lauren Johnson, this girl was affected my Mycoplasma:
"We describe a patient with mycoplasma infection and clinical manifestations of encephalitis lethargica. The patient was brought to our attention after acute neurologic deterioration followed by a prolonged sleep-like state and the emergence of extrapyramidal features. MRI of the brain disclosed a striking pattern of subcortical involvement by the inflammatory process, corroborating the clinical picture."
Another example of a bizarre presenting disorder is Narcolepsy, a chronic sleep disorder characterized by excessive sleepiness and sleep attacks at inappropriate times. People with narcolepsy often experience disturbed nocturnal sleep and an abnormal daytime sleep pattern,. A related condition Cataplexy is described as muscular weakness which may range from a barely perceptible slackening of the facial muscles to the dropping of the jaw or head, weakness at the knees, or a total collapse. These two have been seen quite often in EL so it was not shocking to see that Narcolepsy has an autoimmune component- "Large case series of narcolepsy-cataplexy were reported by Addie (1926) (1), Wilson (1927) (101) and Daniels (1934) (17)." but I was not thinking that it too, had a connection to Streptococcus:
"Narcolepsy-cataplexy has long been thought to have an autoimmune origin. Although susceptibility to narcolepsy, like many autoimmune conditions, is largely genetically determined, environmental factors are involved... When compared to controls, ASO and ADB titers were highest close to narcolepsy onset, and decreased with disease duration...Conclusions: Streptococcal infections are probably a significant environmental trigger for narcolepsy."
Eerily, both Narcolepsy and Cataplexy have been in the recent news but not about EL:
Narcolepsy with cataplexy associated with H1N1 vaccination., June 18, 2011
"INTRODUCTION: It has been suggested that the H1N1 vaccine may be a trigger for the onset of narcolepsy-cataplexy, a rare disease whose autoimmune origin is suspected. OBSERVATIONS: We report two patients (a 9-year-old boy and an 18-year-old man) with severe narcolepsy-cataplexy, in whom the illness appeared within 3-4 weeks after H1N1 vaccination. In both cases, symptoms developed unusually abruptly and they presented with severe daytime sleepiness and multiple daily cataplexy attacks. Other similar cases have been recently reported associated with H1N1 vaccine. CONCLUSION: Although no formal link can be established, the unusual characteristics of the reported cases and the striking temporal relationship suggests that narcolepsy may be the result of an autoimmune reaction triggered by H1N1 vaccination in susceptible individuals."
"The 5-mL multidose vial formulation contains thimerosal, a mercury derivative, added as a preservative. Each 0.5-mL dose from the multidose vial contains 25 mcg mercury."
A previous connection to Thimerosal and autoimmunity had been published:
Immunosuppressive and autoimmune effects of thimerosal in mice.
"The possible health effects of the organic mercury compound thimerosal (ethylmercurithiosalicylate), which is rapidly metabolized to ethylmercury (EtHg), have recently been much debated and the effect of this compound on the immune system is largely unknown.... In conclusion, the organic mercury compound thimerosal (EtHg) has initial immunosuppressive effects similar to those of MeHg. However, in contrast to MeHg, thimerosal treatment leads in genetically susceptible mice to a second phase with strong immunostimulation and autoimmunity,...."
And more evidence linking toxic metals :
"One etiologic model for narcolepsy suggests that some environmental toxin selectively and irreversibly destroys hypocretin-producing cells in individuals with human leukocyte antigen... Between 2001-2005, the authors conducted a population-based case-control study in King County, Washington to examine narcolepsy risk in relation to toxins found in jobs, hobbies and other non-vocational activities...Risk increased significantly for jobs involving heavy metals (odds ratio [OR]=4.7; 95% confidence interval [CI]: 1.5, 14.5) and for highest levels of exposure to woodwork (OR: 3.0; 95% CI: 1.0, 8.9), fertilizer (OR=3.1; 95% CI: 1.1, 9.1), and bug or weed killer...A nearly five-fold significant increase in risk of narcolepsy was observed for jobs with exposure to heavy metals such as lead, mercury or arsenic, with a significant trend according to severity of illness from exposure.."
So we can see that the past and the present are intertwined as we look at "mysterious" illnesses. The connections of bacteria/viruses, heavy metals and autoimmunity may be the recipe that makes these mysteries appear over the decades. Interestingly, EL victims may have plunged into the disease due to a similar toxic exposure :
"In Vienna, however, it seemed that the members of the professions and skilled laborers, especially metal workers, were noticeably attacked. In this country the disease was fairly common among physicians. The white race has been most affected but whether that was due to greater exposure or greater susceptibility is still unsettled."
At the start of this article, I posted that autism also seems to have some connections to Strep bacteria. This from Dr. Swedo in 2004 summarizes that fact:
"Published evidence indicates a possible etiological link between GABHS [Group A Beta-Hemolytic Streptococci] infection and a subset of obsessive-compulsive disorder (OCD),13-16 Tourette's syndrome (TS)13, 16-19 and autism 20 and suggests that antibodies that develop against a subgroup of Streptococcus pyogenes cross-react with human brain tissue in genetically susceptible children. Swedo et al. coined the acronym PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections) to represent these disorders."
History may be showing us the evolution of possible metal-microbe illnesses and we should heed those clues. Some researchers are making these connections and we need to put more of these ideas into action for ALL of the mystery illnesses:
"Although a link between behavior and immune function has been hypothesized for many decades, recent work provides some of the most compelling evidence thus far. In particular, autoimmune synaptic encephalitides demonstrate how abnormal autoimmune targeting of synaptic proteins can result in profound neuropsychiatric symptoms. Each syndrome is diagnosable by a set of laboratory tests and responds well to immunotherapy. These features provide a degree of clinical certainty rarely available to psychiatrists. Also, the high incidence of systemic autoimmune disorders with neuropsychiatric features reinforces the likely cross-reactivity of peripheral autoantibodies with brain antigens.......Finally, and perhaps most significantly, new research will aim to determine whether a subset of what we currently diagnose as primary psychiatric disorders are in fact due to definable, treatable autoimmune syndromes."
Teresa Conrick is Contributing Editor for Age of Autism