Undiagnosed need help!

Have you been to a neurologist yet, l also have experienced a number of the same symptoms. But mine started in my 30’s and are still happening at 78, with different new ones occurring every so ofter. Part of your problems are neurological but you may be in the same situation as me. Many of my physical problems are rare in nature, so if the doctor uses their text book knowledge, they misdiagnose me. I tell my doctors to throw away their textbook knowledge because I’m not in it since I’m a freak of nature. It took years to track down different symptoms, some they miss altogether.

As an example, I’ll give you the worst case of text book misdiagnosed knowledge that nearly killed me. It happened in 2018 and involved 14 different doctors from four different departments. I was in agony, so they placed me in a special ward to rest. For more that 9 months, l went to the ER’s multiple times, only to be told the level 9 out of 10 pain was of unknown origin and sent home. My description is as follows: pain starting under right rib cage, goes to the sternum, then up, explode over my entire chest and shoot up toward my jaw and disappeared. When l was in the special ward, different doctors came in to see me from Cardiology and Internet Medicine. I get all kinds of textbook guesses, GERD, angina, imagination, what ever they could think of. With level 9 chest pain happening up to 4 times a day, day after day, nobody knows what’s wrong. Suddenly my blood pressure shoots up to 211/113, that’s stroke territory. They forget about the chest pain and try to get it lowered. None of the medications they give me works but the chest pain sure continued. To shorten this story, I'm discharged with a bp of 209/101, chest pain knocking me to my knees it hurts so much. For 45 days, every day, the fore mentioned symptoms continue till they give me a stress test. The results, 3 blocked holes in my heart and 25 minutes after the stress test was over, I was on an operating table.

So don’t stop getting medical help but now I research every symptom I have, up to 100 hours sometimes and guess what? I discovered l have a rare blood disorder call MGUS. I also discovered I have a rare condition called Wolff, Parkinson, White Syndrome a 1 in a million heart birth defect. So start googling till you find the correct answer. You can easily be led to the wrong problem so l follow this rule. Don’t just ask questions, ask the correct question. I found l have both rare problem because I looked until I asked the correct question. By the way, I’m being treated by two of the top doctors in my area. Have any questions?

Hello @nicosuave. Thank you so much for coming back to give an update. I wanted to keep your updates together so you will notice that I have moved this newer post back to a previous discussion you started so that members who joined you can see your update more easily.

Back in February you mentioned getting a referral to a new doctor for a second opinion. Did you ever end up going that route?

Hi thanks for replying. I have had western blot for lime as well as ANA/ autoimmune tests.

Yes I have switched all my care to the best university hospital in my state and had more testing done and still no answers with my condition worsening.

Hi thanks so much for the reply. I am trying to figure out what this is and know of hundreds of medical conditions now but I still have no answers and am getting sicker. I’ve had tons of testing and the only clues so far are high calprotectin/gi inflammation and an abnormal emg that showed an absent sympathetic nerve response. My symptoms are unrelenting and severe. How do I get the proper help and how do I get doctors to take me seriously and stop sending me home from the hospital?

I understand your frustration, that’s why I became my own health advocate. I used all my test results and discovered the bowel condition I have since birth, is not IBS, after 5 years of getting every test known at the time. My research starts at the top 5 hospitals in the country. Getting a clue here and there, following every link they suggested. Now, knowing my past medical history, I get a clue, mutated genes 11 and 12 could be the culprits. The lightbulb goes on, I need a geneticist because my bowel cannot absorb certain fats and proteins which gene 11 & 12 can cause, BINGO!!! What got me interested in this symptom, I had liquid diarrhea for 6 solid months and nothing else. Food goes in, liquid comes out like I’m pissing thru my a$$hole. My pcp suggested everything he could think of, nothing stopped it, probiotics, go in and right back out. Then one day, it stopped on its own, I had lost over 30 pounds, I’m so weak, I could barely walk.

So you see how a bit of information, a never give up attitude and a lot of research solved my so called misdiagnosed IBS into a family genetic search. Unfortunately, other major health problems have sidelined me and I’m concerned over my possible death from my heart birth defect. So pick one of your clues and begin your journey to knowledge and wisdom, I did, so can you!!!

@becky1024 I am curious to learn how you discovered you had mutated genes? Was there a specific gene test you had done? I am asking because I have been looking at Nebula Genomics as they do gene sequencing, hoping they may give me some clues.

@nicosuave I am so sorry to read all you are enduring. Has anyone ever considered testing the river water or type of mushroom you ate to see if knowing more there could point you in a treatment direction?

I’m almost 79, my maternal grandfather was Native American and I was born with some very defective genes and many rare health problems. At 6 months old, I was losing weight, throwing up and had severe diarrhea. Doctors at out local hospital told my mother to take me home because I was dying from what was called “Waste of Life.” I was taken to a medicine man/Shaman who was able to help me and here I am, still alive. It was that story my mother told me that would lead me to my search into genetics for some of my medical problems. Waste of Life killed many babies and toddlers back in 1944 when I was only 6 months old. Today that condition is known as “Failure to Thrive.” Both are intestinal problems and is still killing babies today in certain countries where medical care is non existent. So with many medical books at the library, before the internet, I began my study of genetics. Not only for the cause of my intestinal problem but also mental illness that runs in my family, myself and four brothers included.

Now, with thousands of hours of research under my belt and in my head, the trail of symptoms gave me the first clue. It seems that my intestinal problem is traced to my bowel being unable to absorb certain fats and proteins. That’s why the Waste of Life killed many babies and toddlers because they were starving to death even tho nourishment was going in, the bowel was unable to absorb it. I knew that had to be genetic in nature, so I had to find which genes could cause that problem. So I had to become a self taught geneticist, finding out what each gene was capable of doing what. Some really complex defects can have multiple genes causing the health symptom, like malabsorption. So days, weeks, months and years turned into an obsession, not only for my benefit but my entire family was involved. Genes 11 & 12 are the culprits I remember correctly and Gene 14 is the one which contributes to mental illness, for which my paternal grandfather spent the last 42 years of his life in a mental hospital, the first 20 was in an insane asylum.

During my research if I remember it right, example: a small fleck of say gene 22 breaks off and attaches to gene 24 and produces a cancer. Amazing how your body can screw itself up. I’m going to stop right here because this is so long. If you are still interested, I can explain more of my rare illnesses I’m afflicted with that I used my knowledge to discover the diagnosis before I even went to the doctors.

I don’t know if you saw an infectious disease doctor, but that’s what I would do. You might have a parasite that you ingested from the river or mushrooms. When I was dealing with unknown diagnosed symptoms I went to see an infectious disease doctor and he checked for everything, 28 vials of blood! And thankfully he found a lot of things going on in my body that not one doctor thought of!! Good luck and I hope you get some answers. I know how that feels.

I just wanted to let you know that looking into your genes could be like holding a lit stick of dynamite. You might end up finding out you have the defective gene for breast cancer and will get it. Or how about some other devastating health disease. Could you handle that information and suddenly have to prepare for your impending death?
That’s the exact thing I had to do, at least 6 times now because of my rare health issues. I have blood problems, also heart, brain, kidneys, dead nerves, an aneurysm just below my heart, precancerous cells getting ready to progress into full blown cancer, a nonexistent immune symptoms that has caused 19 lung infections in 8 years, including 4 with Covid, or that my body is destroying itself literally by attacking good cells as tho they were the enemy. As two sayings I keep handy go, “Be careful what you wish for, you just may get it!” The other one is more appropriate. “I cried because I had no shoes, until I met a man who had no feet!” Things can always be worse, so don’t go looking for it, you just may find it.