This community is for individuals with an undiagnosed medical disorder. Please post your comments, questions and symptoms in the forum section.
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:
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 https://medavar.online
Further goals of community research:
Who can take place in research?
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:
Site of project: https://medavar.online
Please feel free to contact me and I will answer all additional questions.
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!
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: firstname.lastname@example.org
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.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
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 sanfordresearch.org/CoRDS to enroll.
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