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Chronic diarrhea, dizziness, and a racing heart — but no diagnosis? DW explores rare diseases, medical gaslighting, and the patients who finally got answers.
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00:01Imagine feeling seriously ill, but doctors and even loved ones think it's all in your head.
00:08Is this medical gaslighting?
00:11Many people told me I should go to a psychiatric ward.
00:15Apparently I was schizophrenic but didn't know it.
00:18We meet sufferers who've struggled with the health system.
00:37It all started on the day of her grandmother's funeral.
00:41After the service, Tabea Albert suddenly develops stomach pain and severe diarrhea.
00:53We all believed that she was simply overwhelmed because of what we'd all just been through with grandma's funeral.
01:02But things didn't improve afterwards.
01:05Over the next days, the vomiting and diarrhea become even worse.
01:11My condition deteriorated very quickly.
01:14I was pretty much in bed the whole time trying to recover.
01:20Tabea Albert now has to go to the toilet 20 times a day.
01:25The diarrhea leaves her completely exhausted.
01:28After two weeks, her mother decides enough is enough and calls an emergency doctor.
01:35She remains in hospital for three weeks.
01:38She's given IV fluids and the doctors search for the cause of the diarrhea.
01:43With no luck.
01:45Eventually she's sent home with a vague diagnosis.
01:51They said it was a long lasting gastro infection and I should recover at home.
01:58Instead of resting, Tabea Albert resumes her midwifery training because she's already missed so much.
02:04But the diarrhea doesn't stop and now her circulation also starts playing up.
02:10Is everything okay with you?
02:15By now she's lost eight kilograms.
02:18She turns to her family doctor hoping for an answer.
02:22He discovers small areas of inflammation in her bowel.
02:29Naturally we considered all sorts of possible differential diagnoses.
02:34I thought it might be Crohn's disease or ulcerative colitis.
02:41Both of these diseases cause chronic inflammation in the bowel.
02:45So that would fit.
02:47Her constant diarrhea would also be typical.
02:51So Dr. Kai Straßmann attempts her treatment.
02:53He prescribes cortisone based on a suspected diagnosis.
02:58Because it usually produces good results for chronic inflammatory bowel diseases.
03:07I noticed that the pain had eased and that the diarrhea became less severe.
03:12The medication lasted for about a month and during that month I felt reasonably well.
03:17But then unfortunately my doctor went on holiday.
03:23Tabea Albert urgently needs a new prescription for cortisone.
03:27But no doctor is willing to give it to her.
03:31A relapse is only a matter of time.
03:37You'll find out how Tabea's search for answers only became more complicated.
03:41The WHO estimates that 30,000 diseases have been identified.
03:46Of which 8,000 are considered rare depending on the definition.
03:51Diagnosing these conditions is often difficult and takes an average of five years.
03:56That's because most doctors rarely encounter them.
03:59Many are caused by unusual genetic mutations and still have no cure.
04:04That's also why many rare diseases begin in early childhood.
04:09Cystic fibrosis is one of them.
04:11Thick, sticky mucus damages the organs.
04:14And until recently, life expectancy was typically low.
04:18But that's beginning to change.
04:24Push-ups.
04:25Just a few years ago Maximilian Bronnard couldn't do a single one.
04:31Push-ups used to be out of the question for me.
04:34These days I can do about 10 to 15 in three sets.
04:38No way was that possible before.
04:41I'm Maximilian Bronnard, I'm 21 years old and I have cystic fibrosis.
04:48Maximilian can barely believe it.
04:50Not long ago he couldn't imagine stepping foot in a gym.
04:54Now he's here five times a week, even on the treadmill.
04:57He says he's never felt this fit in his whole life.
05:02Maximilian has had cystic fibrosis since birth.
05:05It's a rare inherited disease that shaped his entire life.
05:10In Germany it affects around 8,000 people.
05:15You wouldn't know it from looking at Maximilian,
05:18but his disease is life-threatening.
05:21Mostly due to a thick, sticky mucus that clogs vital organs,
05:26especially the lungs and digestive system.
05:29Many diagnosed die in childhood.
05:33Now 21 years old, Maximilian remembers
05:36when the doctors gave him a grave prognosis.
05:40Back then they told me I might live to around 17 or 18
05:44if things stayed as they were because they were so bad.
05:47That hit hard.
05:52His mother often looks through old family photos.
05:56When he was born he seemed healthy.
06:00But it didn't take long for Sandra Bronner to realise that something was wrong.
06:06Shortly after birth he lost a dramatic amount of weight,
06:10despite feeding well.
06:12Four weeks later came the diagnosis.
06:17We both cried, his father and I.
06:20We were a young married couple and never imagined that anything like this could happen to us.
06:27From then on life revolved around inhalation therapy,
06:31constant infections and stays in hospital.
06:33By the age of one, Max was so underweight that he had to be fed through a tube.
06:40That's when the doctors decided you needed a feeding tube through your nose
06:44because they kept saying you were too thin.
06:46At first we tried to make sure you didn't pull it out,
06:49but eventually you got used to it.
06:51Two dummies and everything worked.
06:56Three years ago everything changed.
06:59A new medication transformed his life that meant he got sick less often
07:04and didn't need to be hospitalised.
07:06He describes it as a total game changer.
07:10I could live life again.
07:12The new drug works wonders, but it costs several hundred euros a day.
07:18Although Maximilian has benefited enormously, the price still shocks him.
07:25It's terrible that medicines can be so expensive,
07:29especially in countries where there's no assistance to access them.
07:33That's sad.
07:35Every three months Maximilian and his mother return to the clinic for a routine check-up.
07:41One of the most important tests is his lung function.
07:45To test how well his lungs are working,
07:49Maximilian is asked to take some regular breaths
07:52and then some really deep breaths.
08:00Sabine Weger is his doctor and is sharing the results with him.
08:07Everything is excellent.
08:08Going on these results alone, you'd say we're seeing completely normal lung function.
08:14And a life that's now close to normal, thanks to a new treatment combining three different active ingredients.
08:23There's no doubt that this medication has been a real game changer.
08:27It's made an enormous difference and we're all delighted that it's available.
08:33For Maximilian, the future finally looks bright.
08:36He hopes to begin vocational training in sports management.
08:41I can't put it into words. It completely changed my life.
08:47It's impossible to express how grateful I am to finally be able to live a normal life again.
08:58A normal life is still a long way off for Tabea.
09:02In fact, her ordeal is far from over.
09:10Without cortisone in just a few days, the severe diarrhea returns and even worse than before.
09:18Tabea Albat is reaching breaking point.
09:24I remember one night before I was meant to work.
09:27I broke down in tears in front of my parents, thinking I won't make it through a night shift because
09:32I'm utterly exhausted.
09:38Her mother Helga is deeply worried. The next morning she takes her to another hospital.
09:44This clinic has a gastroenterologist, a specialist in chronic bowel diseases.
09:54I remember it well. When I first saw her, she'd already lost 20 kilograms. She couldn't eat and was already
10:02showing signs of malnutrition.
10:05The specialist admits Tabea immediately and puts her on an IV drip so the nutrients she urgently needs get into
10:13her bloodstream.
10:14But does she really have inflammatory bowel disease?
10:22The lining of her small intestine is badly damaged.
10:26Such extensive inflammation isn't typical of Crohn's disease.
10:30Instead, it points to another condition.
10:34We found a number of inflammatory changes in the small intestine that strongly suggested an inflammatory reaction.
10:44caused by a food allergy, in particular celiac disease, commonly known as gluten intolerance.
10:54But blood tests at a genetics laboratory rule out celiac disease.
10:59So what's making her so sick?
11:01The search for answers continues.
11:08The doctors now conclude that it may simply be an unusual gastrointestinal infection as their treatment appears to work.
11:18Two weeks later, she's discharged.
11:22But just one month later, the diarrhoea comes back with a vengeance.
11:27Everything starts over.
11:29She loses weight at an alarming rate and eventually becomes too weak to leave the house.
11:40By then I'd lost about 25 kilograms.
11:43I normally weighed around 75 kilos, then I was down to 50.
11:49Her mother takes her to yet another hospital, but this time things get worse.
11:54What she experiences there, coming up later.
12:02Digestive problems can have many different causes, making them difficult to diagnose.
12:07It's much the same with dizziness and circulatory problems, especially when standing up.
12:13They're often blamed on low blood pressure.
12:16Unpleasant, but usually not considered serious.
12:19But if your vision regularly goes black, or you even feel like you're about to faint, it's important to find
12:25out why.
12:26And above all, don't give up. Keep pushing until you get answers.
12:34Moving up and down like this is exactly what Henrika Armen's body struggles with.
12:39It often makes her dizzy and sends her heart racing.
12:42She's been dealing with these debilitating symptoms for decades.
12:48I'd suddenly feel incredibly hot.
12:50My heart rate would go up, my circulation would go haywire, and everything would start going black.
12:57I always wondered, how can this be happening when I'm eating five meals a day?
13:01Why am I still having these circulation problems?
13:05I knew something wasn't right.
13:07Henrika is full of energy.
13:09The 35-year-old has three young children, works in administration and leads a busy life.
13:15But she's been living with daily episodes of dizziness, sweating and a racing heart.
13:20And no doctor has been able to explain why.
13:26People told me I should see a psychiatrist.
13:29Everyone put me in a box.
13:31Either they thought I wasn't eating enough and that was causing circulation problems,
13:35or that I was a stressed out mum with three kids who was just overwhelmed.
13:42Neurologist Julia Forstenpointer and her colleagues frequently see patients who experience a racing heartbeat,
13:49lightheadedness or sudden sweating when standing up.
13:52We see patients like this all the time.
13:56For them these unexplained circulation problems can be very distressing, and it's important that they're taken seriously.
14:04Cardiologist Roland Tilts also sees patients with these symptoms repeatedly ending up in the emergency room.
14:12It's important that patients receive a thorough professional evaluation rather than going to the ER over and over again.
14:20We need to rule out potentially dangerous causes, like serious cardiac arrhythmas.
14:27Every time we stand up, the body faces the same challenge.
14:31Gravity causes blood to pool in the legs.
14:34In a healthy circulatory system, that's easily corrected.
14:38The heart beats a little faster.
14:40The blood vessels in the legs constrict.
14:43Blood is pushed upwards, including to the brain.
14:46This adjustment is controlled by the autonomic nervous system.
14:51Henrika's heart is healthy.
14:53Her blood pressure is normal, but under stress her heart rate can surge dramatically.
15:02She finally underwent a comprehensive evaluation at a specialty clinic.
15:07Neurological testing, extensive blood work, and a detailed medical history.
15:12Doctors left no stone unturned.
15:14They suspected a specific disorder of the autonomic nervous system.
15:19Postural orthostatic tachycardia syndrome, commonly known as POTS.
15:25In people with POTS, too much blood pools in the legs when they stand up,
15:29because the autonomic nervous system doesn't efficiently regulate the circulation.
15:34The heart beats faster to compensate.
15:37Even so, the brain may not receive enough blood flow.
15:40The nervous system overreacts, triggering symptoms like sweating, dizziness, and nausea.
15:47The diagnosis can be confirmed using a tilt table test.
15:51The examination allows doctors to see exactly how the circulatory system responds when the body is brought upright,
15:58and whether POTS is responsible for the symptoms.
16:01A normal resting heart rate is around 70 beats per minute.
16:05After being brought upright, if the heart rate rises by at least 30 beats per minute or goes above 120,
16:12that meets the criteria for POTS.
16:17How will Henrika respond?
16:19Her heart rate starts at around 80 beats per minute, only slightly elevated.
16:24But as soon as the test begins, that changes dramatically.
16:28Her pulse shoots past 120.
16:31Her heart is racing.
16:33She begins sweating.
16:34She's on the verge of passing out.
16:37The doctor stops the test.
16:39The diagnosis is clearly POTS.
16:41At last Henrika had an answer.
16:43She's learned she's far from alone,
16:45and more importantly, what she can do to manage the condition and avoid fainting.
16:50Marvin Van Dixon also has a problem with fainting.
16:54Now 27, he's been affected since age 3.
16:57It first happened when he saw a needle on vacation.
17:01Since then, it's kept happening, sometimes on a crowded train,
17:05sometimes triggered by nothing more than a thought.
17:08His system overreacts, setting off a reflex that disrupts his circulation
17:12whenever he thinks about something that frightens him like a needle.
17:17It starts with this tingling sensation that gradually rises through my body.
17:22Then I know I need to lie down immediately, otherwise I'll pass out.
17:28It begins as a fear response.
17:31The heart races, then too little blood reaches the brain.
17:34The autonomic nervous system effectively pulls the emergency brake,
17:39causing the person to faint.
17:41Once they're lying flat, blood flow to the brain improves
17:45and they become conscious again.
17:47Recently Marvin lost consciousness on the highway, fortunately as a passenger.
17:53Now he wants answers.
17:55At a specialized clinic, neurologist Berthold Voges and his team
17:59deal with patients who suffer from fainting spells,
18:02and they often find abnormalities in their autonomic nervous systems.
18:07It can be triggered by disgust, fear, swallowing, urination, and many other stimuli.
18:17Countless things can trigger this faulty circulatory response.
18:21The more often someone faints, the more anxiety develops.
18:26The more anxiety, the more likely further episodes become.
18:30It's a vicious cycle that seriously impacts the quality of life.
18:34The doctors want to help break the cycle, so Marvin is undergoing a provocation test
18:40while his physiological responses are monitored and recorded.
18:43The staff begin by talking about needles.
18:46Immediately his heart rises.
18:49Two minutes later he faints.
18:51This time under medical supervision, the diagnosis is reflex syncope.
18:56Now he wants to learn how to control these reactions.
19:03We want to be able to explain what's happening to the patients and we want to offer treatments that can
19:09prevent it from happening.
19:12Marvin is now learning, through exposure, how to manage the fear and recognize his body's warning signs.
19:19One technique is to repeatedly tense and clasp his hands together, helping to stabilize blood pressure and prevent fainting.
19:27Now I can regulate those feelings better and tell myself it's not fear, it's a reaction.
19:33Henrika Imam now has a routine.
19:35Every day she wears compression stockings, drinks three liters of water and does exercise to support her circulation.
19:45It was incredibly liberating. Finally I knew what was going on, and I knew I needed to approach things differently.
19:54Today, along with therapy, she exercises to keep her circulation stable, giving her the confidence to get on with life.
20:04Tabea hasn't been that fortunate. In fact, quite the opposite. Let's see what happened next.
20:17At a third hospital, the doctor has a radically different theory.
20:21He says the loss of Tabea's intestinal villi isn't caused by a physical illness at all.
20:29They said it was anorexia.
20:33Their theory was that the cause of the villus atrophy was that I was taking laxatives and damaging my own
20:39bowel.
20:44Is Tabea mentally ill? She's transferred to a psychiatric ward despite insisting she's not anorexic and isn't taking laxatives.
20:57I went along with it because I was desperate. Anything to get help.
21:06Now, under constant observation, she eats well but doesn't gain a single gram. How could she? She's still suffering from
21:14severe diarrhea.
21:17She explains what a difficult time it was for her and how misunderstood she felt by the circumstances.
21:25First they thought I was taking laxatives. Then that I was secretly exercising in the shower, which was absurd as
21:32I couldn't climb a flight of stairs.
21:35But the doctor doesn't believe her. He doesn't believe that she's having diarrhea. He's convinced she's lying and that she
21:44has anorexia.
21:46His theories become increasingly bizarre.
21:54He even said, perhaps you're schizophrenic and don't know it. Maybe you're secretly taking laxatives and have a second personality
22:01doing it and you just don't know.
22:08Now schizophrenia too? It's like a nightmare. Summoning the last of her strength, Tabea flees the hospital.
22:22Back home, she collapses. She can't keep fighting her mysterious illness for much longer.
22:31Tabea was afraid she wasn't going to survive. To put it bluntly, she was afraid she was going to die.
22:41Shortly afterwards, she's admitted for a second time to Dr. Henning Adamek's ward and immediately starts receiving nutrient infusions again.
22:50Her condition is now life-threatening. This is clearly not a psychosomatic illness.
22:55But what is it? Could it still be celiac disease? Perhaps the laboratory got it wrong.
23:03Then Dr. Adamek discovers a newly described disease on the internet.
23:08It looks like celiac disease, but it isn't.
23:16In this condition, the inflammation and destruction of the intestinal villi are caused by the body's own immune system.
23:23It produces antibodies against a specific protein on the surface of the villi and destroys them.
23:31Could this be the answer?
23:33The doctor finds a specialist laboratory that can detect these antibodies.
23:41He immediately sends a sample of Tabea Albert's blood for testing.
23:51Two days later, the laboratory doctor called me and said, we've got it.
23:56He told me he'd never seen antibody levels that high before.
24:02This is it. The moment she's so desperately been waiting for.
24:07When Dr. Henning Adamek says he finally knows what's wrong with her, she can hardly believe it.
24:16I remember bursting into tears with relief because at last my illness finally had a name.
24:26The cause of everything is neither celiac disease nor Crohn's disease nor laxative abuse.
24:33It's autoimmune enteropathy, a disease in which the immune system attacks the body's own intestine.
24:41This disrupts the bowel's fluid and stool regulation causing severe diarrhea.
24:46Additionally, patients are no longer able to absorb nutrients properly, leading to malnutrition.
24:55Fortunately, there's an effective treatment for this newly identified disease.
24:59It's an old medication, the very one that it helped to be a month earlier.
25:09It was an incredible feeling. I was given cortisone straight away and within 24 hours I could feel the pain
25:16and the diarrhea improving.
25:18I started eating again. Oh, I ate so much afterwards. It was incredible.
25:24Four years later, Tabea Albert has returned to her normal weight and has even tapered off the cortisone.
25:31She's completed her midwifery training and is now studying medicine.
25:37She's determined to treat her future patients the way she herself had wished to be treated.
25:47And we hope you're determined to join us again for the next edition of In Good Shape.
25:52Until then, take care and goodbye.
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