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What is Undiagnosed?

This community is for individuals with an undiagnosed medical disorder. Please post your comments, questions and symptoms in the forum section.


This community is for individuals with an undiagnosed medical disorder. Please post your comments, questions and symptoms in the forum section.
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Psychiatric diagnoses when doctors don't have answers Created by cjai50
Last updated 29 Oct 2020, 10:27 PM

Posted by cjai50
29 Oct 2020, 10:23 PM

I have had chronic medical problems for over 20 years. My immune system does not seem to be working properly, as I get recurrent shingles, cold sores, diverticulitis, bronchitis, UTI's, etc. I also have a lot of neurological findings, including peripheral neuropathy and cerebral small vessel ischemia. For the past 4 years or so, I have experienced problems with memory, concentration, word recall, dizziness and balance and history of falls. I also have tremors that come and go. I have been repeatedly evaluated for MS and Lupus, but do not test positive for the antibodies for autoimmune disease. I do have periodic limb movement and possible narcolepsy, although if I do have narcolepsy, it is not a classic presentation. I do have genetic mutations which increase my risk for both MS and Narcolepsy. 

Recently, I have had testing showing I have an enlarged spleen, thickening of my esophegus, small lung nodule and oteoarthritis in my back. There is evidence of chronic systemic inflammation typically seen with autoimmune disease, but the general tests do not reveal anything positive. I have had continued difficulty working and after having a respiratory infection last November, have been very limited im my ability to work much at all. Due to the increase in symptoms and increased difficulty, along with lots of physical findings without an easy explanation, I have been very focused this year on trying to figure out what is going on. I am in my 50's and have a very extensive family history of similar chronic disease and early mortality (both my parents died in their 60's).

I had some neuropsych testing done in 2016 when I started experincing cognative difficulties and the testing revealed mild cognative impairment in a few areas. We just repeated the tests to see if there has been decline. I actually performed quite well. Overall, my tests were in the high normal range and did not match what would be expected for my symptoms or the findings on my brain MRI (although he did not even compare the findings of this testing with the 2016 test, which I thought was the reason we were doing them). Therefore, he gave me a list of psychiatric diagnoses, including somatic disorder, compulsive personality traits and anxiety and adjustment disorder. He did concede that immune dysregulation can cause inflamation which could be causing my fluxuating eperience with cognative difficulties.  And if there are medical findings, my symptoms would be "organic", but in absense of medical findings, it must be psychiatric. 

These psychatric diagnoses suggest I have an "excessive preoccupation" with my health in "absense of a serious diagnosis". I am wondering what is a "normal" amount of concern or anxiety in response to seeing damage in multiple organs in your body, damage and atrophy in your brain, increase in symptoms and infections and no explanation as to why? And when you are unable to work and earn a living, should a "normal" response be to not be anxious about it?  My doctors just say "I don't know why" and have not been concerned with doing specialized testing to figure it out (until I switched to a new physician this year who has been ording lots of testing). Am I crazy to research it on my own? Does that make me compulsive? What it is a typical response to having physical disease with no answers or diagnosis? 

Has anyone else experienced the same? Any words of wisdom?

How patients can use data about the quality of genetic tests to influence on receive proper diagnosis, reduce errors and costs in the diagnostic path? Community research initiative. Created by Kirill Terentev
Last updated 27 Jul 2020, 07:10 PM

Posted by Kirill Terentev
27 Jul 2020, 06:59 PM

Hello everyone.
I am a bioinformatician and researcher in the field of molecular genetics. My background related to work in a clinical genetics laboratory specialized in rare diseases where I worked over the software diagnostic tools helping for medical geneticists. I have been worked there over tasks of genetic diagnostic and NGS data analysis with the application of a broad number of data science/ML methods.

Several months ago I start a community research project that is completely independent from any laboratory. Research aims to make significant steps in solving of problems lie under the hood of clinical genetic diagnostic:

  1. Widely used in labs today, NGS methods (Whole Exome/Genome sequencing, Panels) still do not detect a great number of DNA variants that truly existing in patients samples. Especially it relates to indels of equal or more than 20 bp of length, CNV (copy number variants) of sizes less than 1000 bp. CNV more than 1000 bp also has problems;
  2. Quality of NGS tests varied between patients - depends on particular sequencing data, varies between laboratories - depends on bioinformatics data processing that each lab implement. Depends on the pace of implementing of all vast amount of new data processing methods emerging in the field every day;
  3. On top of the problems mentioned above - the absence of sufficient control over the quality of tests from the side of doctors and patients before selecting of laboratory and after test was conducted. Information published by laboratories about the quality of detection in NGS clinical genetic tests is most often non-detailed, incomplete, limited in access, or sometimes completely absent leading to lack of control or misinterpretation by test users.

Preliminary result of research:

As preliminary results, we collect data about 5162 genetic tests from 14 clinical labs from Europe and present it in one place where anybody can compare tests/labs by basic quality parameters. In the future, we plan to expand/elaborate further on our quality parameter list and data ammount.

Details about basic quality parameters of clinical NGS genetic tests and usage of these parameters for selection of lab/test to increase the probability of receiving proper diagnosis explained on

Further goals of community research:

  1. Conduct research to estimate the quality of the data processing step(bioinformatic pipeline) that lies inside a clinical genetic tests. This will provide for every participant a clear understanding of ineffective parts of data processing that was provided for them by laboratories.
  2. Conduct bioinformatic reprocessing of patients sequencing data to detect DNA variants that were not detected under their previous tests. New findings can lead to receiving a proper diagnosis for participants.

Who can take place in research?

  1. Undiagnosed people. Also diagnosed people for independent check/confirmation of current genetic findings.
  2. Any rare disease group
  3. Those who previously pass through clinical genetic testing(WGS - Whole Genome Sequencing, WES - Whole Exome Sequencing, Genes Panels Tests, i.e. sets of genes)
  4. Any country.
  5. Participation is free.

What is needed from participants?

Every participant needs to get his/her own NGS sequencing data from the laboratory in which he/she conducted a clinical genetic test. Data in the form of FASTQ and/or BAM and/or VCF files. I can help with gathering your data from laboratories by communicating with them.

Please contact me first, I will describe all the necessary details about data requirements.

All data will be processed anonymously and privately with 100% patient ownership, every participant will receive individual results in the form of written reports and all necessary explanations. I will help to answer your questions.

Participation is free.

What end result will be?

1. Report for each patient with detailed explanations about what was done not good enough during data processing inside genetic test and whats need to be done to detect all genetic variants and reduce errors of genetic test. These reports then can be used as the basis for communication/requirements for previous or other laboratories to improve diagnostic.

2. List of newly found mutations that can be further analyzed by any independent laboratory to:

  • interpret by influence on symptoms,
  • confirm by commonly used methods - Sanger/microarray/PCR/other.
  • increase the probability of receiving the proper diagnosis
  • confirm current diagnosis independently (if you already have some) with new findings and/or same as previous findings
  • lead to proper treatment and/or drug development

Site of project:
Please feel free to contact me and I will answer all additional questions.

FB Messenger:

Kind regards,
Kirill Terentev

help figuring out what someone has please.... Created by neilstarks
Last updated 18 Aug 2018, 06:07 AM

Posted by neilstarks
18 Aug 2018, 06:07 AM

Hi! I am visiting family in Iran and in the country side came across a cousin of mine that has a disorder, that I would love to find out more about in an effort to help him. I believe he has some sort of down syndrome as his speech is not proper, as well as slow in a lot of areas. What scares me even more is he has some sort of really big bulge coming out from the back of his neck, kind of seems like extension of the spine, its not right whatever it is. 
I was hoping that someone can recognize these issues and  point me in the right direction so at least we could get this guy some sort of treatment to make his life better. I thank yo advance for your consideration! 

Hello RareShare | Solace in Writing Created by DiagnosingDan
Last updated 22 Jul 2014, 02:34 PM

Posted by DiagnosingDan
22 Jul 2014, 02:34 PM

Let me introduce myself. My name is Daniel Jennings, I'm 26 years old and since July 2006 I have lived with a chronic, undiagnosed medical condition. My symptoms include black-outs and hypersomnia, along with a few anomolies which require an entire anecdote to explain. In the past 18 months I have moved into London with my girlfriend and have attempted to take on regular work. This has proven to be far more difficult than I had imagined. I had to leave my first full time role after just six months because it was making me too ill. I now work freelance, but find the financial insecurities quite a strain, particularly when I'm going through a bad patch (as I have been recently). To exacerbate the situation, I've found that the mass of stories, doctors names, hospital names, conditions, tests and symptoms floating around in my head make it impossible to focus the little energy I have on something productive. So, a far cry from the previous eight years of my life, which were spent keeping thoughts about living with these unknown conditions to myself, I decided to start writing. It's early days yet, but on my new blog [ ] I've documented a handful of my experiences and will continue to do for the foreseeable. Don't get me wrong, my blog isn't particularly popular. I only have 22 followers on tumblr, and most of them are my Mum's friends. But I feel like it's helping declutter my mind, like a mental spring clean. With that in mind, I'm intrigued to hear if anyone has found solace elsewhere? Wishing each of you all the best, Dan

NIH Research Study for Parents of Undiagnosed Children Created by acmadeo
Last updated 14 Jun 2013, 04:40 AM

Posted by acmadeo
14 Jun 2013, 04:40 AM

In 2012 I wrote an article with some of the results from this study (Madeo AC et al. Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions. Am J Med Genet Part A 158A:1877 – 1884). Analysis of parents’ responses indicated that the greater a parent’s perceived control and optimism, the less uncertainty they perceived. Parents who perceived their child’s disease as more severe were more likely to perceive greater uncertainty. Many parents very generously answered open-ended questions about the areas they perceived that they did and did not have control. The following areas were identified as those where parents most often felt they did have control: information and decision-making about health care, advocacy, child’s comfort and self-care. The following areas were identified as those where parents most often felt they did not have control: disease, future, medical care and isolation. Over 10% of respondents (22) indicated that they have no control over anything. Thank you to the parents who took the time to complete the survey.

Posted by acmadeo
27 Oct 2009, 08:26 PM

*8/19/10 This study is currently closed to new enrollment. I will provide a summary of results when available. Thank you to all who participated. Anne Madeo* ***************************** The National Human Genome Research Institute at the National Institutes of Health (NIH) is sponsoring a study that seeks to learn more about how parents of children with an undiagnosed medical condition think and feel about their child's condition. We hope that this knowledge will improve the health care and counseling for these parents. Men and women who are 18 years or older and have at least one child with a medical condition that has remained undiagnosed for more than 2 years are needed to take part in this study. Participation involves one survey that takes about 45 minutes to finish. The survey can be taken online or a paper copy can be mailed to you. For additional information about this study, you may review the "Notice to Participants": *If you have questions, please contact:* Anne C. Madeo, MS, Principal Investigator Genetic Counselor National Human Research Institute National Institutes of Health Bldg. 31, Room B1B36 31 Center Drive, MSC 2073 Bethesda, MD 20892-2073 Phone: 301-443-2635 Email:

Undiagnosed Condition Created by Wainwright
Last updated 2 Jul 2012, 02:52 PM

Posted by katerad
2 Jul 2012, 02:52 PM

Hello, I'm Kate. I'm new to Rareshare. I'm 26 years old and I have some similar symptoms but not the same ailment. Its rough to realise your life has/will deteriorate at a much quicker and far more painful rate than most others in your life, I don't have alot of answers but I will share with you some things that have helped me. I get alot of cramps in my legs and back so I soak a towel big enough to cover the area in some hot water with 2 cap fulls of Eucalyptus oil, you can buy it at most supermarkets for faily cheap, leave it for a few mins and let the whole towel Absorb most of the solution, wring it out so not to burn the skin and wrap it around or drap over the area and leave for 10 mins or so. Its not a cure but it does give me some relief. I also do some very gentle stretching, I visited a physio and also went to a Pain Management Clinic and got them to teach me a few months worth of exercises. Im not sure with your loved one what is phsically possible but short walks are also helpful, Just the sun on your face is good for your mental state. A Psychiatrist once told me If you want to get depressed, lye down and do nothing" I walk everyday and it truely does help. Ive also tried Hydrotherapy, its great for the balance and also helps to do some gentle stretching in the water as your taking 90% of your body weight off. I also use heat packs alot during winter as the cold seems to wreak havoc with the pain and cramping. Gentle Massage is great too, If you have a look on youtube at Oncology Massage, teach yourself the Basic techniquics. I found that to be wonderful. Also recently In Australia, where I live, Botox has been found to STOP hand tremors. They are currently testing it with those who have parkinsons and they are having an amazing positive effects. I find that as a result of the medication Im taking, Tramadol and Dothep and other pain killers like morphine and ocxycontin,aswell as Muscle Relaxers, I take Norflex. im not able to focus for long periods of time and I also have noticed alot of confusion and memory loss I hope I was able to help and I will re-post if I stumble across anything else I will be sure to share. Stay strong,

Posted by Wainwright
14 Oct 2011, 10:50 AM

My daughter has been told that she has a genetic disease which has not been diagnosed. Approximately 5 years ago at 16 years old she began to get hand tremors, followed by walking and balance problems. She has been taking beta-blockers ever since and muscle relaxants to stop her getting cramps. Following MRI scans, lumber puncture and muscle and tissue tests they still have not been able to help her. They believe the white brain matter has atrophy which has affected her thoughts, memory, balance etc.. and she is now in a wheelchair and unable to work. Any views, ideas or help would be greatly appreciated.

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Undiagnosed: Picture of Ontario girl with rare disease wins Ontario Youth Sports photo contest 08/02/2018
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Enrolling is easy.

  1. Complete the screening form.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit to enroll.

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I am a bioinformatician and researcher in the field of molecular genetics. My background related to work in a clinical genetics laboratory specialized in rare diseases where I worked over the...

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About me ... I was told for years that I was a "most likely Crohn's disease" patient Then celiac disease was added and then removed . I've been told maybe it's IBS but after 10 years I have NONE of...
My name is Daniel Jennings, I'm 26 years old and since July 2nd 2006 I have lived with a chronic, undiagnosed medical condition. My symptoms include black-outs (falling unconscious without warning)...
I'm a 32 year old from Bakersfield California. I was born and raised in Tulare ca until 2004 I moved to Las Vegas Nevada. Mid 2011 I moved back to Tulare California... Early 2012 I moved from...
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I am a 36yr old mother with a 7yr old daughter diagnosed with an unnamed form of whitematter brain disease and is unable to walk,talk,or grow at a normal age rate;i am seeking answers,available...
25 years old, In a happy relationship.
I'm a 28 year-old young woman from Southern Maine. Before my condition got out of control, I managed to graduate from Smith College, and studied abroad in East Africa, where I still wish to work...
Many symptoms for many body systems. GI problems, pain around joints, particularly surrounding hip joints and below toe-metatarsal joints, feels like small festering boils right at hip joints,...
I am 33 and have been suffering with a "medical mystery" no one has been able to find out what I have.


I will briefly list some of my symptoms: Imflamation of joints and muscles, Chronic pain...
I am the stepmother of a girl with an undiagnosed condition, seeking to find similar patients.
have remained undiagnosed for several years despite testing by many doctors, even at Johns Hopkins and George Washington


will not give up.
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I am a mommy to 5 children, age ranging from 8.5 month's to 20 year's old. I am married, and have been with my husband since I was 14 years old.


Our youngest daughter of 8.5 months has...
I have several diagnosed conditions, but several signs/symptoms that are yet undiagnosed. I am searching for answers.
I'm Old Gregg!
My 32 year old son has a rare brain disease that involves the blood vessels in his brain.
I have a lot of health problems but manage with the power of the Lord to keep myself out of the pity pot (most days) and to maintain a sense of humor.


I'm happily married, have one son, two...
Hi. My name is Eric, co-founder of RareShare. I am originally from Indiana but I have recently moved to Houston after a couple years living in New York City. I have a sister living in Boston and a...

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