Hi, I am sorry you are experiencing these disturbances. Cerebral small vessel ischemia appears to explain the presence cognitive issues, have you personally read into this more on your own or with your doctor? I am unsure if like many chronic illnesses, your symptoms can vary month to month, year to year (explaining your current good neuropsych testing). Cerebral small vessel ischemia also lists psychological symptoms, so this may be a factor. Many doctors often cannot relate to the experience of their patients' health conditions (having never experienced themselves). It is reasonable to be concerned, and even upset with these changes. I understand the genetic issues bring a physical & psychological concern. Because many of the other problems you listed are smaller on the spectrum, but add up to a lot in your daily experience, could lead him to be more dismissive. Doctors love to say "I don't know" and lean towards somatic causation, especially because the more serious problem seems to have tested better.

I think it is understandable to be upset. However I do not know how you present in person, and this raises the question of your general health. There are many conservative ways to improve these smaller health conditions, and a number of them are not a danger within themselves. A good therapist may help with coping with all these concerns, but eating healthy & enjoyable exercise can also help your body regulate some of these smaller issues. Yin yoga is great & recharging, and something to make you sweat (cardio?) is important to naturally detox.

I am roughly half your age (30) and have experienced rare neurological symptoms from a spine condition involving inflammation. I am much better now, but there are some currently small problems that are known to be degenerative, and I'm at risk of the original problem returning. So I understand how the brain & gene issues you face can be weighing on you. I have had (and continue) to research my condition & symptoms extensively, because it appears to be a specific rare one, that is poorly understood by many in the medical community. I recently touched base with a foundation for this illness and already there is way more support than expected. Some areas of medicine are poorly practiced, but I don't want to assume this is the case for you. If you can not find a group for Cerebral small vessel ischemia, then there may be one for stroke or similar conditions. They usually have insights for good doctors, lifestyle adjustments, etc.

It is a good sign your neuropsychological testing results came back better. Many immune & inflammation issues can be a sign of general health dip, which often can improve with conservative healthy living. A Rheumatologist could help you explore auto-immune if you feel its there, I just wouldn't assume that this is the case. But by all means look into it if you want. A better person may be able to make more connections between all that you have listed. But outside your two main concerns, everything else seems fairly common, especailly with age. I'm glad this new doctor is making the effort. I believe any doctor will take anyone more seriously if you are doing the main conservative things that help everyone inmprove their physical & mental help (exercise, eat right, socialize, find purpose when can't work, research health issues objectively). I hope you feel better.

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?

Hi, I have no idea what healthcare access is like in Iran, but I imagine options are more sparse in the country side. The title of physcian speaclties is also likely to change by country, even in cases of shared language. That being said, in America, Intellectual Disabilities can be assessed by a mental health professional, likely a Psychiatrist. Neuropsychological Testing could be administered by a Neuropsychologist, generally there may be a few different specialties ruled out so he is not misdiagnosed. Sometimes various cognitive or developmental issues can appear to be classic intellectual disabilities, when they actually aren't. In America people with these conditions can easily be misdiagnosed without due diligence.

I have no way of knowing what that neck bump is from a picture, but I am not aware of any neck condition where the bone drifts off in that way, as his head appears in normal positioning. Could be a growth or severe acne. There is a condition called buffalo hump, aka a dorsocervical fat pad. I'm unsure if they can manifest in that shape. Since there are so many directions that can likely be ruled out by a physical exam, I'd send him to a primary care doctor to save time. Otherwise he can go to an orthopedic to rule out spine issues, oncologist to rule out cancerous-tumor, dermatologist for acne, and/or get radiology imgaing. But primary would be best to coordinate everything.

I'm guessing the hardest part would be locating & affording the right doctor. I'm not sure how familiar you are with the area but I would talk about Iran's healthcare options with your other family to develop a plan, especially those that currently live near or with him. If this is not available I'm sure there is public information online, but then you would need a way to support your cousin to actually get to the appointments, since it sounds as you do not live there. 

I'm hoping you've managed to find help since posting this.

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 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.

https://medavar.online/main/index

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 https://medavar.online

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: https://medavar.online
Please feel free to contact me and I will answer all additional questions.

medavar.research@gmail.com

FB Messenger: m.me/Medavar
Whatsapp: https://wa.me/79960015800

Kind regards,
Kirill Terentev
 

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 [ http://www.diagnosingdan.com ] 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

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.

*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":http://www.surveymonkey.com/StudyNoticeUncertainty)disclosure. *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: anne.madeo@nih.gov

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,

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.