Hyperinflation of the rare




by Dr.Harald Wiesendanger– Klartext

“Rare”: that sounds like a negligible number. However, at least in the healthcare system, this impression is very misleading. Even if each “rare disease” affects no more than 0.05% of the population, its diversity has exploded recently: there are now over 17,000. And more and more people are affected: four million in Germany alone, up to half a billion worldwide. The main reason for this is living conditions that systematically make people ill. Politicians who stand by and do nothing are also to blame.

It was on August 15, 2015, when I met Kim for the first time: an eight-year-old girl whose parents accompanied her to a therapy camp run by my Ways Out Charity. Born perfectly healthy in May 2007, she began to experience severe seizures after four months, which are characteristic of “West Syndrome,” a particularly difficult-to-treat form of epilepsy. The diagnosis, confirmed by DNA analysis, was “tuberous sclerosis” (TSC), a rare hereditary disease that leads to growths and malformations of tissue in almost all organs, often in the skin, but also in the brain. Only one in 6,000 children is affected. “Tubera,” bump-like protrusions that trigger seizures and impair mental development can grow out of the cerebral cortex. Kim had autistic traits. She didn’t speak a word.

A year earlier, at another “Ways Out” therapy camp, I met 18-year-old Marvin. His risk of being born with a genetic defect in sections q1.2 to q11.13 on chromosome 15 was 1 in 20,000 – but what use is a statistical improbability to sufferers like him? The young man suffers from “Angelman syndrome,” named after the British doctor Harry Angelman (1915-1996). It is also called Happy Puppet Syndrome, alluding to a strangely doll-like, constantly happy facial expression, laughter for no reason, and fits of laughter. This disease manifests itself in mental and physical disabilities – especially severely delayed speech development -perception disorders, and hyperactivity.

When his diagnosis was finally confirmed, Marvin was already seven years old. He is severely mentally disabled, cannot speak, has difficulty walking, and is incontinent. His coordination of movements is impaired. Saliva constantly drips from his mouth, which he cannot close. Since March 2013, epileptic seizures have occurred in which both arms twitch for minutes. They often escalate into myoclonus lasting hours, and there is involuntary twitching of the muscles in all four extremities.

Exceptions as a mass phenomenon

Such “rare diseases” have recently been mysteriously increasing in number, defined as fewer than five people per 10,000 inhabitants. (1) Sometimes, only a handful of people worldwide suffer from a specific type. In 27 years, only four patients have been diagnosed with ribose-5-phosphate isomerase deficiency: a specific enzyme is genetically missing, which causes a severe metabolic disorder that primarily affects the white matter of the brain; development is delayed, and motor skills can only be controlled to a limited extent.

Even rarer is “Fields’ disease”: a muscle-wasting condition that has so far only been noticed in two twin sisters from South Wales, Kirstie and Catherine Fields. Movement problems began at the age of four. At the age of 9, they needed walking aids. At 14, they both lost their voices. They are now in wheelchairs. The unfortunate girls suffer more than 100 uncontrollable, painful muscle cramps a day.

In total, such medical rarities affect millions. The specialist literature now lists a total of 17,000 different diseases of this kind, and 5,000 to 8,000 cases are known in Germany (2) – a real horror show. According to the Global Genes Project, 350 million people worldwide have a rare disease – around five percent of the world’s population. (3) The European Organization for Rare Diseases (EURORDIS) estimates that between 3.5 and 5.9% of the entire human population is affected, corresponding to 263 to 446 million.

And in Europe? The EU assumes that between 6 and 8% of the population could be affected by a rare disease at some point in their lives. (4) The current figure is between 27 and 36 million. In Germany, the figure is said to be three to four million (5), and recent estimates suggest 4.3 million German citizens. (6) Rare diseases have thus become a mass phenomenon.

From the sober figures, the loveless prevalence zeros before the decimal point, not only biological curiosities jump out at anyone capable of empathy – it is about unspeakable, heartbreaking tragedies. Many of those affected – 75% of them children – experience their limitations, their otherness with full awareness, locked in the prison of a genetically deformed body for the rest of their lives. With intensive treatment and plenty of patience, relief for one or the other symptom is certainly possible, as I was amazed to witness in my charity/foundation’s therapy camps. However, there are only therapies for around 400 “rare diseases” (7). These only alleviate the accompanying symptoms at best. Complete healing remains an illusion. Almost always.

This gloomy outlook is due to the fact that the development of “orphan drugs,” as drugs for rare diseases are called, is economically far less attractive for the pharmaceutical industry due to the tiny target groups than targeting cancer patients, hypertensives, diabetics, and rheumatism sufferers, for example. So extortionate prices have to compensate for this: Orphan drugs are so ridiculously expensive across the board that they remain unaffordable for almost all those affected if their savings are not sufficient and no health insurance company steps in. Nevertheless, a lot of money is flowing in for little therapeutic return: Market researchers at Evaluate Pharma estimated sales of drugs for rare diseases in 2021 at 156 billion US dollars – corresponding to around 16 percent of the prescription drug market; by 2024, this had become 217 billion.

The bleak prospect is not only an immense burden on the patients themselves but also on their families. The more severe the disease, the more oppressive it becomes. There are always relatives who feel helpless sympathy, who try in vain to find treatment options, who sacrifice themselves in caring for and looking after the child, who throw their own life plans overboard, and who ponder the question of meaning for no reason. They dejectedly imagine a future in which they have to entrust their lifelong handicapped child to strangers because they are at the end of their strength and, at some point, their lifespan too.

Grueling Odyssee

Before hope dies, it drives them to a desperate search. With the first mysterious symptoms, those affected and their relatives usually begin a grueling odyssey from practice to practice, clinic to clinic; they visit up to eight doctors. If no organic explanation is found, clueless conventional doctors all too often assume a psychosomatic problem. 40 percent of patients receive a misdiagnosis at least once. It takes an average of 4.8 years before the correct diagnosis is finally found. (8) At an average of 147,000 euros, the treatment costs of rare diseases are around five times higher than the average for chronic diseases. (9)

Four out of five rare diseases are genetic, i.e., they are caused by damage to the genetic material that the body’s own repair mechanisms can no longer repair. Depending on which chromosome sections and DNA sequences the abnormalities occur in, the appearance, organs, and body functions are affected in the most bizarre way: from cognitive impairments to changes in external appearance and even blindness. Three million people worldwide – around 30,000 to 40,000 in Germany – suffer from retinitis pigmentosa (RP): As retinal cells gradually die, the field of vision narrows until it fails completely. LHON, “Leber’s hereditary optic neuropathy,” begins in around 80 Germans each year with permanent black spots appearing in the middle of the field of vision. Within a few weeks and months, this visual impairment almost always spreads to the second eye. After a short time, vision falls below ten percent.

Paralysis that progresses incurably can also occur. In 3,600 to 6,000 German children with Duchenne muscular dystrophy (DMD), for example, the functional muscle protein dystrophin is no longer produced. This leads to unstoppable muscle loss, first in the musculoskeletal system, then the respiratory system, and the heart.

Often, these are exotic metabolic disorders. Maple syrup urine disease (MSUD), for example, which affects one in 140,000 to 200,000 newborns, owes its name to the spicy-sweet smell of urine and breath. In this disease, the reduced activity of an enzyme means that the amino acids leucine, isoleucine, and valine are not broken down sufficiently; instead, they accumulate in the blood and tissue. Affected children appear sleepy, apathetic, or lethargic; they suffer from difficulty drinking, are prone to diarrhea and vomiting, their muscle tone is too low, and their reflexes are weakened. In the worst case, MSUD leads to seizures, coma, and life-threatening respiratory disorders.

A genetic defect on chromosome 8 causes “Werner syndrome”, also known as progeria adultorum, in three out of a million people. It only becomes noticeable in the early thirties, but then it happens one after the other: the skin becomes wrinkled, looks thin and translucent; the voice sounds weak and high; the hair turns grey and falls out; the muscles atrophy, the gait is bent instead of upright. You not only look like a 60-year-old, but you behave like one, too. At forty, you look like eighty. Most sufferers do not live to see their 50th birthday.

It was not until 1965 that two American neurologists noticed a hereditary disease that has borne its name ever since: Flynn-Aird syndrome: one in a million people becomes hard of hearing towards the end of adolescence, muscle mass decreases, joints stiffen; the lens of the eye becomes cloudy, movements become uncoordinated, teeth are severely carious, bones are osteoporotic; epilepsy or dementia occur.

Mutations in the ABCA 12 gene on chromosome 2, gene location q35, cause harlequin ichthyosis. In one in 300,000 people, they cause them to slowly turn to stone. In this disease, the top layer of skin renews itself seven times faster than normal. This causes it to peel off; thick scars form. Eventually, the skin hardens so much that it looks like armor – like the surface of a stone.

Not at all fateful

The genetic abnormalities mostly appear for the first time in the families of those affected. This means that at least one parent or the person themselves, possibly in the womb, was exposed to genotoxic influences that had little or no effect on previous generations. The vast majority of rare diseases only appeared in medical literature in the second half of the 20th century; before that, they were unknown.

In order to downplay the catastrophic development, rhetorical maneuvers are used, as we are all too familiar with from the autism debate: “Don’t worry, appearances are deceptive,” we are told – in reality, cases are simply being recognized more often because doctors diagnose them more often, data is being collected better, parents are more aware, definitions have changed, journalists are reporting more frequently, and public awareness has grown. After all, there has been International Rare Disease Day since 2008, celebrated on the last day of February.

It is hard to imagine a more ridiculous way of fooling people. Has Sweatpants Day on January 21, Siblings Day on April 10, Tree Day on April 25, and Hammock Day on July 22 generated significantly more attention for specific clothing items, family relationships, plants, and resting places?

Rare diseases have actually increased at an inflationary rate – to the same extent as the unnatural burdens on the human organism have multiplied. Never before in its six million-year-long development history has it had to cope with more influences that damage the genetic material – and at the same time weaken the body’s own repair mechanisms for such defects? Artificial radiation from more and more sources, pollutants in the air, water, and soil, chemicals in food, pesticides, micro- and nanoplastics, and mutagenic drugs: barely more than half a century of neglectful environmental and consumer protection have been enough to make the living conditions of Homo sapiens so inescapably pathogenic that only cyborgs and robots will survive them unscathed. At least they are reliably spared from “rare diseases.” Doesn’t the agenda of transhumanists fit perfectly with such prospects?

(Harald Wiesendanger)

This article contains excerpts from Harald Wiesendanger’s book, published in 2019: The Health System – How we see through it, survive it and transform it, pp. 32-35.

Support “Ways Out Charity“! With your support, we can help and move forward. > https://bit.ly/3wuNgdO

Notes

(1) This prevalence criterion is used by EU authorities in their definition of a “rare disease.” In the USA, the figure is 7.5 per 10,000 inhabitants.

2) RARE List, https://globalgenes.org/rarelist, 15. April 2016.

(3) https://globalgenes.org/rarelist

(4) Nguengang Wakap u.a.: “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.” European Journal of Human Genetics. 28 (2) 2020, S. 165–173. doi:10.1038/s41431-019-0508-0.

(5) Public Health – European Commission. https://ec.europa.eu/health; Deutsches Ärzteblatt, 19. November 2010, S. A 2272.

(6) Plus Drei, No. 52, Februar 2019, S. 8.

(7) Ana Sanfilippo/Jimmy Lin: Rare Diseases, Diagnosis, Therapies, and Hope, St. Louis, MO 2014, S. 6.

(8) Nach Shire Deutschland, zit. in Plus Drei, a.a.O., S. 11.

(9) Nach Evaluate, Statista; zit. in Plus Drei, a.a.O., S. 9.

Leave a Reply

Your email address will not be published. Required fields are marked *