For anyone who can't find a diagnosis: Undiagnosed Disease Network

Posted by z4pper @z4pper, Feb 9, 2021

If you are like me, and your options are getting slim, perhaps I can offer a new direction.

I found this not too long ago. It's called the Undiagnosed Diseases Network. https://undiagnosed.hms.harvard.edu/ It can be a difficult and frustrating process to try and find a diagnosis. Especially when you know something is wrong, but the doctors can't seem to find any answers. If you are in this same boat or have been searching for years like I have, I would suggest looking into this program. It's federally funded and it's goal is to find out what sicknesses are hurting the US population. The studies are done to try and find a diagnosis when all other methods fail, and to further research into lesser known illnesses.

There is a catch though. They cannot promise a treatment or a cure, but they will do their best to get you a diagnosis. (Which if you haven't been diagnosed and cannot work, you know all to well that a diagnosis means everything when applying for disability.) They have various locations across the US and have cutting edge tech and doctors for those sites. They ask that you fill out a questionnaire, and do some thorough testing (doctors/specialists/etc.) before applying to them. If you choose to apply, it can take 6-8 weeks for the doctors to review your medical records, and then they will tell you one of 3 things: "You've been accepted." "You need to do some more testing before we are allowed to see you." or "You've done everything we possibly know how to do." But if you're like me, and are at the end of your rope, this might be worth a shot.

They will block out an entire week or two, set apart for you, to do all the testing and appointments. And because they are federally funded, they are willing to work with you in covering some of the expenses when you go. To find out which, I highly suggest contacting them personally from their website, the info is located at the bottom of the page.

Hopefully this will help some of you whom I have seen, who are low on hope, or have exhausted all of your options. Hopefully, this will help give you that beacon that you are so desperately searching for. Keep up the good fight. Because your life is worth it!

~ Ian

PS. I have also found a temporary alternative that actually has given me some surprising and positive results. If you have unusual symptoms without any explanation, have joint pains without any cause, or have frequent kidney stones, vulva oddities, or diabetes. I would highly suggest looking up Low Oxalate Diets. Or youtube videos featuring Elliot Overton or Sally Norton. They have If it's something you think could help you, look into the facebook group Trying Low Oxalates (TLO) headed by Susan Owens. Research it thoroughly before trying the diet at all. Good luck!

Interested in more discussions like this? Go to the Autoimmune Diseases group.

@z4pper

Honestly, I don't have any other options. It's either do or die. And I can feel it edging ever closer every day. Truth be told, I fret about dying every day. And every week it just gets worse. I break down, and sometimes I get so frustrated I have to punch something. I keep wondering if I'll even make it to the next month. And yet, the next month always comes, and I still continue to get worse. The only thing keeping me going right now is my faith and my knowledge of how things are interacting with my body. I've had to relearn things, glean new info from the experiences I'm having, and learning to cope with new symptoms and disabilities. The other day the right side of my face went numb and it grew difficult to try and move it. But after several seconds it went back to normal. In that instance, I don't recall being terrified, I just thought, "oh, this is a new one." And just contemplated as to why it could have happened. Got an MRI and there is still no answers. Still 30 years of age and sometimes I have to crawl to get to where I need, or have someone brush my teeth for me. It's devastating, yes. But it's good to be able to have people around who care and can assist me when needed. It would be far scarier without them.

I get by, by controlling what I know I can control (which isn't much). But doing, that. Focusing on the things I enjoy, and trying to help others that are trying to find answers, forms a sort of comradery. It's comforting to know that other people are fighting for their answers too, and perhaps if they find their answer, it could be your answer too. It's easier to fight if you have people by your side.

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POSTED BY SOMEONE IN NEUROPATHY GROUP: I found this not too long ago. It's called the Undiagnosed Diseases Network. https://undiagnosed.hms.harvard.edu/ It can be a difficult and frustrating process to try and find a diagnosis. Especially when you know something is wrong, but the doctors can't seem to find any answers. If you are in this same boat or have been searching for years like I have, I would suggest looking into this program. It's federally funded and it's goal is to find out what sicknesses are hurting the US population. The studies are done to try and find a diagnosis when all other methods fail, and to further research into lesser known illnesses.

There is a catch though. They cannot promise a treatment or a cure, but they will do their best to get you a diagnosis. (Which if you haven't been diagnosed and cannot work, you know all to well that a diagnosis means everything when applying for disability.) They have various locations across the US and have cutting edge tech and doctors for those sites. They ask that you fill out a questionnaire, and do some thorough testing (doctors/specialists/etc.) before applying to them. If you choose to apply, it can take 6-8 weeks for the doctors to review your medical records, and then they will tell you one of 3 things: "You've been accepted." "You need to do some more testing before we are allowed to see you." or "You've done everything we possibly know how to do." But if you're like me, and are at the end of your rope, this might be worth a shot.

They will block out an entire week or two, set apart for you, to do all the testing and appointments. And because they are federally funded, they are willing to work with you in covering some of the expenses when you go. To find out which, I highly suggest contacting them personally from their website, the info is located at the bottom of the page.

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Why is it that when doctors can't figure out what's wrong with you oh, they just think that it's all in your head, or you just want to collect Social Security disability? I want to know what the hell is wrong with me! I want to know why I feel the way I do! I want to hopefully prevent future generations of my family going to the same crap I'm going through trying to get a diagnosis!

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@linda2114

Why is it that when doctors can't figure out what's wrong with you oh, they just think that it's all in your head, or you just want to collect Social Security disability? I want to know what the hell is wrong with me! I want to know why I feel the way I do! I want to hopefully prevent future generations of my family going to the same crap I'm going through trying to get a diagnosis!

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@linda2114 ,
Amen! And amen to that! I feel your frustration. Been dealing with the same for 5 years now.

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@linda2114

Why is it that when doctors can't figure out what's wrong with you oh, they just think that it's all in your head, or you just want to collect Social Security disability? I want to know what the hell is wrong with me! I want to know why I feel the way I do! I want to hopefully prevent future generations of my family going to the same crap I'm going through trying to get a diagnosis!

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Hi @linda2114. I am sorry this has been so difficult and can certainly understand your frustration not knowing what exactly is going on. Have you ever doctored at a teaching hospital before?

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@amandajro

Hi @linda2114. I am sorry this has been so difficult and can certainly understand your frustration not knowing what exactly is going on. Have you ever doctored at a teaching hospital before?

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Yes I contacted the University of Pennsylvania Hospital oh, and they told me that they weren't currently doing any genetic research on autoimmune disorders

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Same problem here—- mysterious back pain! Had it for years, and have been to many drs., therapists, chiropractors, assistants, nurses, massage therapists and whomevers. The problem does not show up on the numerous and varied tests, so therefore, it does not exist except in our confused little minds. The most recent diagnoses was from a 5'2'', 90 lb P.A. who told me I need to exercise, and diet. When I can hardly walk or stand, running a marathon is not in my future!
Teaching hospitals are not the answer, they are interested in teaching their budding little docs, patients are secondary. The one I went to was a literal and proverbial snake pit.

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I saw the reference to UDN here on Connect. It is a NIH funded research study based out of Harvard SOM, for patients with long term symptoms with no real diagnosis. There are 12 clinical sites across the US.

I am really interstate in applying and was wanting to see if any Connect members have been in the program or know more details they could share.

Thank you all!

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@clutch

I saw the reference to UDN here on Connect. It is a NIH funded research study based out of Harvard SOM, for patients with long term symptoms with no real diagnosis. There are 12 clinical sites across the US.

I am really interstate in applying and was wanting to see if any Connect members have been in the program or know more details they could share.

Thank you all!

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Hi @clutch, There are a couple of members that have discussed and or applied to the Undiagnosed Disease Network (UDN) like @upnort and @keithwalker. Perhaps they would be wiling to share what they have gone through. You will see that your post was moved to a conversation about UDN.

Here are some Frequently Asked Questions About the Undiagnosed Diseases Network
What is the Undiagnosed Diseases Network (UDN)?
The UDN is a research study funded by the National Institutes of Health Common Fund. The UDN is made up of clinical and research centers across the United States working to improve diagnosis and care of patients with undiagnosed diseases.

What is the purpose of the UDN?
The UDN has two main goals:
1. To provide answers for patients and families affected by mysterious conditions, and
2. To learn more about rare and common diseases.

What is unique about the UDN?
The UDN is trying to solve the most challenging medical mysteries by:
– Bridging the gap between clinical care and research.
– Using genetic data to try to find diagnoses.
– Working with researchers to figure out how diseases affect the body, which may lead to treatments.
– Training other doctors, nurses, genetic counselors, and scientists to use this new approach.

What is an undiagnosed disease?
An undiagnosed disease is a medical condition without a known cause despite a lot of evaluation.

What is a rare disease?
A rare disease is a disease that affects fewer than 200,000 people in the United States. There are so many separate rare diseases, that overall 1 in 10 people have a rare disease.

Who is eligible for the UDN study?
Ideal applicants to the UDN include individuals with:
1. One or more objective findings pertinent to the phenotype for which a UDN application was submitted.
2. No diagnosis despite evaluation by at least two specialists who assessed the patient for the objective finding(s).
3. Agreement for the storage and sharing of information and biomaterials, in an identified fashion amongst the UDN centers, and in a de-identified fashion to research sites beyond the network.
4. Applicants unable to consent can be enrolled.

Applicants who are unlikely to be accepted include individuals with:
1. Reported symptoms with no relevant objective findings.
2. A diagnosis explaining objective findings.
3. A diagnosis suggested on record review.
4. Unwillingness to share data.

Applying to the UDN
How do I apply to the UDN study?
Before applying to the UDN, it is important to discuss the study with a health care provider (for example, specialist, primary care physician, nurse practitioner, or genetic counselor). If you want to submit the application online, you will need an email address and access to the Internet. If you do not have an email address and access to the Internet, you can request a paper application. You will also need to ask your health care provider to write a study recommendation letter. The study recommendation letter must include:
– A summary of the applicant’s medical problems
– Date when symptoms were first noticed
– For pediatric patients: prenatal and birth history
– Previous diagnoses
– History of evaluations and tests
– History of treatments and medications
– Current medications
– Family history
– Health care provider’s diagnostic impressions

Once you have the study recommendation letter, you can fill out an online application through our website, which we call the UDN Gateway.

You will upload the study recommendation letter directly to this website. You will be provided the opportunity to upload a 1-page patient narrative telling us your story from your perspective and a photo. It should take less than 20 minutes to complete the online application.

When the UDN has received your application, you will receive a confirmation email. The UDN will let you know if more information is needed before your application can be reviewed.
https://undiagnosed.hms.harvard.edu/about-us/faqs/
@clutch, can you share what symptoms you are looking to have addressed with the UDN?

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@amandaburnett ,
Thanks for the info! Can I ask a dumb question. What does this mean in your post: One or more objective findings pertinent to the phenotype for which a UDN application was submitted.

To answer your question specicfically: Long term nausea with weight loss and now difficulty swallowing, blurry vision, extreme fatigue and malaise.

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@mermaid7272

Same problem here—- mysterious back pain! Had it for years, and have been to many drs., therapists, chiropractors, assistants, nurses, massage therapists and whomevers. The problem does not show up on the numerous and varied tests, so therefore, it does not exist except in our confused little minds. The most recent diagnoses was from a 5'2'', 90 lb P.A. who told me I need to exercise, and diet. When I can hardly walk or stand, running a marathon is not in my future!
Teaching hospitals are not the answer, they are interested in teaching their budding little docs, patients are secondary. The one I went to was a literal and proverbial snake pit.

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I was going some research and found a test that will prove you are in pain. I’m going to ask for this test myself, it’s called Thermography. Look up Doctor Phillip Getson on YouTube
I’m going through the same, I feel like doctors think I’m a hypochondriac! I’m very upset because I had back surgery and nothing has changed and it’s been 4 wks.

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@notgivingup17

I was going some research and found a test that will prove you are in pain. I’m going to ask for this test myself, it’s called Thermography. Look up Doctor Phillip Getson on YouTube
I’m going through the same, I feel like doctors think I’m a hypochondriac! I’m very upset because I had back surgery and nothing has changed and it’s been 4 wks.

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Notgivingup17, I had not heard about thermography for detection of pain, but know about the FDA warnings with respect to breast cancer detection.
"There is no valid scientific data to demonstrate that thermography devices, when used on their own or with another diagnostic test, are an effective screening tool for any medical condition including the early detection of breast cancer or other diseases and health conditions." Read more here:
– FDA Warns Thermography Should Not Be Used in Place of Mammography to Detect, Diagnose, or Screen for Breast Cancer: FDA Safety Communication https://www.fda.gov/medical-devices/safety-communications/fda-warns-thermography-should-not-be-used-place-mammography-detect-diagnose-or-screen-breast-cancer

So, I looked for articles about thermography and pain detection and found this:
"Thermography has found to be effective in assessing and tracking pain related problems having associated vascular changes. It has also proven to be particularly effective in detecting and tracking changes in burning phantom limb pain and reflex sympathetic dystrophy and is illustrated in the following sections."
– Thermography in Pain Management https://www.practicalpainmanagement.com/resources/diagnostic-tests/thermography-pain-management
– Thermal camera as a pain monitor https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734233/

You might want to discuss the effectiveness of thermography with your doctor. Let us know what you find out.

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Hello All. I am considering applying to The Undiagnosed Disease Network, which is a research study funded through NIH. The UDN is made up of clinical and research centers across the United States working to improve diagnosis and care of patients with undiagnosed illnesses.
I would love to connect with anyone here on Mayo Connect who may have applied to the study. Rejected or accepted, it doesn't matter! Please post here or PM me. I look forward to hearing from you!

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