Three Diseases Doctors Often Miss
In this video we will be discussing EDS (Ehlers Danlos Syndrome), PCOS (polycystic ovary syndrome), and thyroid disease. As a family medicine doctor, I am regularly confronted by patients exhibiting symptoms of common ailments. Sore throats, acne, hair loss… all often explainable by a common condition. Sometimes though, I come across a series of common symptoms that when presenting at once can actually be diagnosed as a rare and incurable disease. Today, I’m exploring these diseases that are regularly missed by doctors and often result in patients going years before finally getting a treatment that’s right for them. Read more on them below:
PCOS: www.womenshealth.gov/a-z-topics/polycystic-ovary-syndrome
Ehlers-Danlos Syndrome: medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/
Hypothyroidism: medlineplus.gov/hypothyroidism.html
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this reminds me of Mystery Diagnosis. some of the people in the series had conditions for 10+ years becuase the doctors ignored them, didnt listen, didnt care, didnt put all the symptoms togther, or werent educated enough. it sucks that it still sometimes happens, but youre awesome Dr. Mike :D how is Bear?
How about IBD?
I was the first person in my family to get diagnosed with eds but probably not the first one to have it
Hypermobility is not common to every form of EDS but it is probably the most frequent. In fact, you are not dx'd with other types of EDS if you have hEDS
Thank you so much for this video! I have two out of three of these. PCOS, and EDS it makes me feel very seen and understood to hear how passionate you are about this. I wish you were my doctor.
Dysautonomia Hyper POTS Zebra here! Even with POTS im forgotten because Hyper is sooooooo Zebra lol
Why did I never see this!! I have EDS :o
I had my own zebra disease when I was a kid; morphea. I've got a couple of scars from it including a lobster shaped one. Not necessarily as serious as the ones you mentioned, though. Subjectively, my PCOS affects my life more.
I have pcos :(
For anyone being told to diet to help PCOS: DON'T. I was diagnosed early on, 17 years ago now, and started on a diet at once. It only made things worse. Instead, find a body positive PCOS specialist, and take the time to learn to listen to your body and what it needs. It's only after doing that that my symptoms got lighter.
Another zebra that is often initially misdiagnosed or viewed as abuse by family members is Osteogenesis imperfecta. I was initially misdiagnosed as a newborn, albeit with an even rarer disorder. It is kinda in the same vein of EDS, since it’s a collagen disorder, and some people with EDS have OI too.
Might I just point out that PCOS isn't rare though? 1 in 10 women have it. Thanks for making a video on this though Dr Mike ☺️
I was diagnosed with PCOS a few months ago. It took me 7 years to find a doctor who took my symptoms seriously and actually listened to me. I cried when she diagnosed me with it, because it made sense.
Took almost 20 years to be diagnosed with PCOS. So frustrating.
My older sister has PCOS...
Endometriosis! Please!
I have Chiari Malformation which can take years for people to get the right diagnosis, find a specialist and even a PCP who believes their symptoms.
If you want to learn more about ehlers danlos and POTS , Jessica kellgren Fozard does some really useful vids on her channel. Also things you should talk about - adhd/autism in women and girls, endometriosis, fibromyalgia, ME/CFS
Arnold Chiari Malformation. I grew out of it but rural doctors had no idea and had to be diagnosed at Mayo Clinic at 14. Well, I also had a stroke before I was born. I love my medical history, it makes life interesting.
I got thyroid problems and it's annoying
Been going undiagnosed for 10 years (at least) with crohn's disease...usually was written off as stomach bug
can we stop gendering hormones?
I have lots of little things that weren’t diagnosed for a while or haven’t been yet, like tinnitus, depression, and autism, but my doctors at least diagnosed my allergies (food and airborne), asthma, eczema, and hypermobility pretty early on. It’s kind of weird knowing that your joints move a little bit more than others, and your skin is a tiny bit more elastic (and less protected from allergens) than other people
Famillial Adenomatous Polyposis. My mum was misdiagnosed with IBS & Ulcerative Colitis. Then when all her children was having symptoms and was diagnosed with F.A.P then they did another scope and genetic testing and she was diagnosed with it but it’s a condition that causes a lot of issues and would be great if you spoke about it as most doctors I’ve spoken to don’t have any idea of it and most people I know with it have also been misdiagnosed as well which is very dangerous for this condition as it causes a lot of different cancers & colorectal cancer is almost a certain by the ages of 34-40 without having the colon removed and yearly scopes. Would love someone with a platform to raise more awareness ♥️
My mom was told by her doctor that when they hear hoof beats they’re supposed to think horses not zebras but then my mom is a unicorn with all her weird medical things. It’s kinda funny and my mom feels like it fits. She’s got super uncommon things so she’s not even a zebra, she’s a unicorn.
And she’s got two of these diseases. Almost.
I was misdiagnosed for a month with a throat infection when I was 3. I had just developed Type 1 Diabetes and was in hospital for two weeks recovering afterwards. 🤷🏽♀️🤦🏽♀️ Doctor didn't question enough about the fatigue, loss of appetite and extreme thirst and just jumped to the most common and easiest to treat, even after several separate appointments. I think my mother sued the guy 😬
Cyclical vomiting syndrome, my son finally got this diagnosis when he lost 5kg in a few days, ended up hospitalised (not the first time) and they ran so many tests and found no reason for his extreme vomiting, even the anti sickness didn't work. The vomiting episodes had been going on since he was 2 (he is almost 10 now, got diagnosed 2018).
I’m really surprised that PCOS is a zebra. I have so many friends with it and I had it myself before pregnancy.
Also thyroid disorders in small children. Because the thyroid gland is EXTREMELY important for brain development, and can possibly become dangerous if it goes undiagnosed or not properly treated. An thyroid disorders can also be related to some congenital heart defects. My twins are currently going through the whole chromosomal testing, and being studied because because of this 😐😐
I was having a lot of symptoms that to me could've been PCOS or thyroid disease, but my regular doctor said I had a vitamin D deficiency, high insulin, and stress from 2020, then told me to make some lifestyle changes. A few months later I go to a gyno who tells me I have a hormone imbalance and then prescribes me birth control and clindamycin for acne. She didn't ask me any questions that hadn't already been asked by the nurse, run any tests, or give me an exam, but that's because I'm young if you know what I mean, and it would've been traumatic. I haven't really ever received an official diagnosis, just a vague "hormonal imbalance". Do you think I should go to a different gyno or trust that this one knows what she's talking about?
As a person with hEDS I found it interesting that you chose an example patient who was male and only complained of bruising. Most people diagnosed with EDS are women (even though it's an autosomal dominate genetic condition that has a 50% chance of being passed down) because girls hormones during puberty increase joint laxity therefore making symptoms worse. And only complaining of bruising seems odd because most people reach out to a doctor because of the chronic pain and subluxations/dislocations more than anything else. The diagnostic process you talked about is also different from what I had and many others I know and read about. I had to meet with a geneticist and pass a 3 part clinical criteria and had blood work to rule out other conditions. I had no form of imaging and I have never heard of a skin biopsy for diagnosing EDS. Otherwise I love that you mentioned this and that it's a Zebra disease because that's the EDS mascot. Overall I enjoyed the video! 😁
granulomatosis with polyangiitis (formerly known as Wegner's)- rare disease that normally presents in elderly people, my daughter was diagnosed with it when she was 18.
When you're the zebra, especially a woman, you can find it so hard to find doctors who take you seriously. Thank you so much for talking about EDS, I have hEDS and it's taken years to be taken seriously and get the diagnosis. Thankfully, I can now work hard to make my life better, but we still need to talk about these chronic illnesses more!
Who else has Vascular Ehlers Danlos Syndrome??
EDS over here as well, have frequent dislocations and 2 dystonia in the feet and it started as 1, could of been treated early but the local hospital basically treated me mad and made us feel worthless. They also put it into my permanent file so future doctors think I’m making it up as well. After fighting through the system and the local hospital to get referred to London. Finally did and I got a diagnosis, but that is really it. I go up there every few months which it awful as I get tired easily and I have a dislocated shoulder (5 years out) but all they do is just ask if I’m ok... then I go home. No where else to go nor any progress really as any progress I have made is from my self research. Example had to look up each nerve in my leg and what effect it has, what parts of my brain does and examples over history of what people have done with there brains. After 5+ years I developed a method to straighten out my foot and block out most of the pain. Hospitals have done barely anything so I had to do it my self. Sorry for rambling. But if you want any tips I would be willing to help.
I have HS, it on set when I was 13 and I didn’t get a correct diagnosis until I was 26. I got 17 incorrect diagnosis during those years. HS is chronic and has no cure, and treatments are hit and miss across the board. The pain can be debilitating and the risk of infection at flare up sites is a constant worry. Now that I have a correct diagnosis I am better able to manage my HS. I just wish I had gotten it earlier, it could have helped mitigate years of confusion and suffering.
Dr. Mike casually talking about PCOS normally as I listen: :D Dr.Mike mentioning how PCOS can cause high weight and high cholesterol: :) Dr.Mike mentioning how it can cause male facial hair: :/ Dr.Mike mentioning how it can cause unusual menstrual cycles: :( Dr.Mike mentioning how it can be spotted by having a higher amount of testosterone and me being a woman that has a similar personality to my male friends: D:
People with PCOS put ur hands up, woot!! *raises hand*
Can you talk about POTS or dysautonomia in a future episode? It’s often misdiagnosed as anxiety and can be completely debilitating.
I have thoracic outlet syndrome and was not diagnosed until after having wrist and elbow surgeries on both arms for carpal tunnel syndrome. I was shocked when he told me that he had never seen it. 🦓🦓🦓🦓🦓🦓 crazy!
Thank you for this!!! As a zebra diagnosed with EDS in 2020 at age 39, I had never hear of it prior to 2018 and didn’t even realize that my flexibility and skin wasn’t ‘normal’. I just had my second orthopaedic surgery and it went soooooo much better because the surgeon, anesthesiologist and rest of the team knew about my EDS and adjusted the treatment/approach. My diagnosis made a huge difference!!!
POTs for sure needs to be talked about, CFS/ME to clarify it’s not just being tired, autism in girls. This could be a really important series
Yes! This could be a really beneficial series for patients and health care providers! There are so many misunderstood and poorly understood conditions. The lack of diagnosis and appropriate care only adds to patient suffering and disability, and increases health care costs for everyone.
Thank you for making this video. I have never heard of EDS before, but I think I might have this syndrome as the symptoms describe me very well. I never thought that my hypermobile joints and loose skin would be a disease but just a special trait of mine. Funny thing is that my doctor often mentioned to me that I am pretty hypermobile, but he never assumed anything beyond that. After I saw this video I brought this theme up to my doctor and he recommended me an institution to get this checked. My appointment is in the next week. Let's see what my diagnosis will be.
🦓 Long QT syndrome 🦓 🦓 Brugada syndrome 🦓
Doctors need to be empowered to do diagnostic referrals and procedures. Insurance is so against them, it can be near impossible to get a simple imaging done. I only got most of my diagnoses after my brain tumor was discovered and treated. Since I’m such a medical mystery/miracle, doctors are more open to listening to my requests now. Especially since I had to force my doctor to send me for the diagnostic MRI that determined I had 6 weeks to live without surgery.
I have all three!
POTS
PCOS isn't rare, as Dr. Mike said. I've randomly met people in the past few years with PCOS or know people who know others of them. It's very visible where I'm from, which might be it, where *I'm from*. Americans have it rough with their health care system. I got mine diagnosed the first time I went to a doctor. But I do know some cases where the woman never got diagnosed at all until it was too late (she did one of those surgeries to lose weight because no matter how much she trained, she couldn't lose weight).
Okay but... I have PCOS and I'm struggling to GAIN weight. I have reactive hypoglycemia and a change in diet helped but I still have terrible hormonal issues and elevated testosterone. Not all people with PCOS are overweight and that needs to be addressed as well. Thinner people are often ignored because they don't have weight gain or metabolic issues even though neither of those things are required for diagnosis. I was even brushed off for having worries about my fertility because "only overweight women have those issues." After I educated myself properly on the disease I realized that's not at all how it works and weight only compiles on top of the risk of infertility caused by PCOS and losing that weight doesn't negate anything having to due with infertility or fertility issues caused by the disease. I think "zebras" for PCOS are the thinner or even underweight women with the illness.
Me: can look at blood in shows and movies for hours *man pops his elbow out* Me: O GOD NO PLEASE NO Also I was diagnosed with Bell's palsy a few months ago and I had NO IDEA it existed until I woke up with the left side of my face paralyzed thinking it was a stroke. It would be cool to get awareness about that from your channel!
I had to get tested for theropod because of my bloodline when my hair was falling out at 11 yo. This happened because of stress with my brothers, moving, and my dad and mom breaking up.
In Poland, I had thyroid hormones checked several times. For sure, it is checked when the depression is suspected. But sometimes in doctors office I was just asked if I had it checked, and when. And if it is older than few years, then they would like to check it just to be sure. It may be because Poland was affected by Chernobyl fallout that caused more thyroid diseases and it made our doctors more aware of them.
Familial hypercholesterolemia is also something that is not thought off, especially if you don't have close familymembers who had heartattacks/lost their life and my ldl never came above 5. After 31 years, i was the first ever in our family to be diagnosed with it.
Hello, Thank you for talking about those "zebras". Can you talk about Crohn's syndrome? Also, I have what I think is called Primary Immune Deficiency in English. It is a family of genetic disorders (like EDS) affecting the immune system. Some are deadly, some are diagnosed early, some only "turn active" at young adult age, but some are diagnosed at adult age even if it was active since birth because "chronically sic" is a symptom that is hard to associate with a genetic disorder. It is mostly treated by medication: antibiotics and/or immunoglobulin injections. The treatments can have very impactful side effects, like chronic digestive issues, chronic pain and chronic fatigue... apparently more on women than on men. Can you please talk about it? Thank you for your videos I love your channel
I was diagnosed with Celiac disease when I was 13. I was still having horrible symptoms for a year, even after switching to the diet recommended by my doctor. After several trips to the emergency room, one of the physicians suggested it may be IBS and to follow up with my doctor. It was in fact IBS. After years of trial and error it's now very well controlled with a specific diet, supplements, and regular exercise.
I have hypothyroidism, i was diagnosed after my professor at the nursing college heard my story. I was always "chubby", I am short (1.5m), I always slept a lot (fatigued), I had memory problems and I had depression during the end of my adolescence. Because of that, they just thought it had to be depression because I was "chubby" and bullyed about it. It is worth noting that my mother has diagnosed hypothyroidism after the age of 35, my aunt after the age of 40. My teacher said "before diagnosing someone with depression, you have to make sure that it is not something clinical" and as I already had a family history, she told me to go to the doctor order the exams. I was diagnosed 7 years ago with 20, my life has changed a lot. I'm from Brazil and I see that today doctors already ask for an exame of thyroid hormones, for early diagnosis, mainly because it is something very common (Google translated because I was being lazy). P.S. I was diagnosed after 3 years of the depression, and i had fatigue during my ALL adolescence, so i don't know when the hypothyroidism kick in, but i'm short, i think It came early in my life and the hormones (or the disorde) didn't make me grow to much.
The Ehlers Danlos symbol is a zebra!
Can you make more of these
Addison's disease is a good zebra
I have a diagnosis of eds took 10 years but I still don't know the type they just called it hypermobile EDS I'm in UK so unless you have private health care so well off they only investigate emergency care
Endometriosis is such an under diagnosed condition; I wish there was more information available for patients so they can be better equipped to advocate for themselves.
I wish you would have included endometriosis in this video because way too often it goes undiagnosed. It take longer to diagnose than pcos.
Thank you Dr Mike for representing us folk with hEDS... means a lot, you have no idea.
I have hypermobility EDS
I’m a zebra. I have neuroendocrine tumors. Usually misdiagnosed as Crohn’s or IBS.
Im a guy i live in the UK and I have EDS. it fucking sucks! I had to drop out of college because i was in to much pain with three or four dislocations DAILY. It took Years to get a diagnosis because most of the doctors ruled it out because i was male
Newborn screening has made a big difference in early diagnosis, but for years, cystic fibrosis (which I have) was often misdiagnosed for years! Doctors would diagnose it as asthma, IBS, all kinds of things before finally doing a sweat test to get a positive result for CF. Some people today are being diagnosed as adults after a lifetime of being unsure what was causing their symptoms. I'm one of the "lucky" ones who was diagnosed when I was 2, so I started treatment pretty early, but babies being born today (in Canada at least) are being screened right at birth so that they can be treated right away! Life expectancy has gone from about 25 when I was born to now almost 50! Science is amazing!
This goes to show how doctors are nothing special they’re playing guess games a lot of time and hope to be right
Doc, if someone had joints that were "free movable", as in there go in and out of it's place easily with sometimes little to no cause, but the ligaments were at a normal flexibity range. What would you think it is? It isn't Ehlers-Danlos syndrome because the other symptoms don't add up. I heard, whenever the person moves their joints, particularly the more stressed ones like the wrists, it cracks or "crackles" (movement of smaller joints/ small bone joints?), whenever they stand up or do a normal movement around their joints, it cracks/crackles, and it's always (sometimes) irritated, like it wants you to crack it more, and keep cracking it until you feel comfortable. What could it possible be? (You don't have to answer this if you don't want to).
It could be a vitamin deficiency, but it has been around longer than that.
Cluster headache. Women rarely diagnosed and men misdiagnosed for years.
I was told old my life I was hipocondriac, however nobody ruled out why I had so many joint issues being so young. After years of research I found out I may have EDS, as well as my 17 y.o. kid, who have same symptoms. I couldn't yet find a doctor who listen. One of the problems with EDS is has a lot of different forms, combinations, and doctors only look for extreme joint flexibility. Brighton scale won't work in someone like me, who already lost a lot of mobility because of EDS injuries during my life. So they just rule me out only for that.
Exocrine pancreatic insufficiency
Things doctors (especially Mike) also miss: apologies and accountability
Patient: I have pimples on my face Doctor: Does your rear feel ok? Patient: Why do you ask? Doctor: Last time I was fired for not asking that question...
another thing over looked is mals! it is extremely rare and overlooked
Man, it's PCOS for me I remember coming out of the gynecologist crying because i just didn't believe it ((Although this runs on my mom side of the family)) But at the end, it was something foreign to me and the first time I took the pills I've gotten dizzy, as well as tons of bathroom breaks I would panic whenever my periods started to get irregular Now I'm starting to exercise, learn to eat a bit better so that my cholesterol stays good and i lost a few pounds I can see why ppl like to workout because you feel great afterwards Still a long way to go!
OK so this is a bit of a story so if you’re just not looking for that just go to another comment but my Little sister tested positive for everything the doctor tested for allergies a few years ago but she has recovered from most of them it’s just a miracle but I’m happy it happened
@Dr. Mike Old video I know, but gallbladder problems can be hidden as general IBS. It took 3 gastroenterologists seeing horses before one of them thought to check my gallbladder for zebra problems and found out it is MIA. After almost 2 decades of runs just 2 (huge) colestipol pills twice a day almost made me normal.
The fact that some doctors often misdisgnose OR undermine some symptoms because the patient is young are overwhelming This makes me believe that maybe AI doctors are better than these bad doctors
I would love to hear Doctors talk more about POTS!! Not only because it commonly gets misdiagnosed as anxiety but because it’s controversial, as my old primary Dr. and psychiatrist don’t think it’s a real condition
Here in Brazil coeliac disease is often misdiagnosed
I'm almost crying sympathetically listening how passionate doctor Mike is about health, about patients. He and people like him are true supermen 💖⚕️
The problem for many people is that if they have a disease they think its normal because usually people dont talk about it. But its unless the doctor noticed something they would be in luck.
Not sure if it's been mentioned yet, but one zebra condition is Chiari (key-AR-ee) Malformation. I personally live with Chiari, but I was actually lucky to get my diagnosis as early on in the process as I did. Some patients go through many doctors and misdiagnoses before being accurately diagnosed, and often it takes anywhere around 10-20 years to receive an accurate diagnosis, largely due to outdated diagnostic criteria. Sidenote: I really enjoy your channel, Dr. Mike! Keep up the great work!
Umm, I have all of the symptoms you laid out for Thyroid disease and PCOS. I am a 57 y/o male, balding male. 😮
I have EDS
Addison's disease I nearly died at the age of 16 to finally get my diagnosis. Even though I had picture perfect symptoms for years prior (as we know now). Still happy that that one doctor who immediately knew what was up worked that day.
I was really hoping fibromyalgia would be on the list ):
I took 16 years (and about as many doctors) to get a PCOS diagnosis. I had high testosterone and hirsutism by age 14. My period was not irregular, just long. My main complaint was excruciating pain before, during and after menstruation. They did 5 ultrasounds and dismissed PCOS because they couldn't see cystic ovaries. I got given the pill, which shortened my cycle to 4 weeks, meaning I was in pain for 3 of them. My body doesn't like being on hormones, so I felt physically ill even when I wasn't in pain, or if I was on a constant, single-hormone contraceptive. Several doctors dismissed me as a patient for refusing to take hormones. I spent 3 months in a psychiatric hospital, and got sent for further testing, because my chronic pain, if it had been psychosomatic, should have improved with therapy, along with my other symptoms. If anything, it was getting worse. Again, a clean ultrasound meant it could not be PCOS. An OB-GYN actually actually caught Hashimoto's, since it couldn't possibly be PCOS. My family doctor missed it because my main symptom was recurrent thyroid infections, which made me go to the doctor, but also raised my thyroid values whenever I was there to have them checked out, and they came back normal. Still, there was no improvement for the 'muscle pain' (cramps) with thyroid hormone. My cholesterol got high'. My insulin resistance progressed to full-blown diabetes before I turned 30. Finally, I convinced my OB-GYN to look for endometriosis, because the pain got so bad, I was fainting at work. The surgeon did another ultrasound ("This can't be PCOS") and said statistics for it being endo were not in my favor. Even if she did find something, she could only remove the lesions for the endo, which would return, or do a very short-term procedure for the PCOS. Both would reverse themselves in years, maybe just months. I told her I needed both of these things excluded as a diagnosis, because I was just about ready to apply for euthanasia based on chronic pain, which you can't if there is a potential, treatable cause for it. She did the surgery and found nearly two decades worth of endometriosis, and advanced PCOS. The pain dropped from an 8 to a 2, but got steadily worse (as predicted), going back to a 5-6 within less than a year. My OB-GYN sent me to a pain management specialist. With my surgery report on his desk, the specialist told me my pain is psychosomatic. There's too many doctors who can be given a labeled picture of a zebra, and still marvel at how very stripy horses can get.
Thank you for posting this! I'm 35 and have SLE and fibromyalgia. My quality of life the past 2 years has been terrible and I'm having a lot of trouble finding a good rheumatologist who is both knowledgeable and compassionate. :( I would really appreciate your time if you could do a video on either or both of these chronic illnesses. Thanks! (From a girl here in Jersey)
It's kind of funny that of all the medical shows on TV House MD is the one that mentions "differential diagnosis" the most yet is the one that by far always picks the most rare and unknown medical conditions that a differential is supposed to weed out.
How about IGA Vasculitis or Complex Regional Pain Syndrome (CRPS)?
Another zebra: Postherpatic neuralgia and having shingles multiple times. Great video!! 🥰😍
My sister has a diagnosis of pcos but it's because the Drs can't prove it otherwise. The only reason she went in was because she had really bad abdomen pain that only started that day. She first thought it was bad period cramps but after a whole day of being in serious pain and throwing up from it they went to the ER to find out she has 2 cysts the size of softballs that are about to burst (they had to drain 2 liters of fluid from them) Since she was a teenager with acne and at a larger size we didn't suspect anything unusual other than a slightly irregular period . The only reason the Drs said pcos is because there were 2 cysts so they have her on birth control.
Not a true zebra but something often overlooked: Males with depression
Who is here with EDS?
You could do mcas and some of its related issues, along with dysautonomia and mito
Some diseases or disorders that i would like to learn more of or are not talked about much are autism in girls, fibromyalgia, and chronic migraines. Dr. Mike can you please talk about these.
Please help bringing more awareness to PMDD - premenstrual dysphoric disorder
Please help bringing more awareness to PMDD - premenstrual dysphoric disorder