Discussions By Condition: I cannot get a diagnosis.

please help!

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: Anonymous
  • February 4, 2010
  • 05:48 AM

I posted once before with no responses. When even the top specialists you've seen tell you that there's something definitely going on, they don't know how you're still functioning and keeping a sense of humor, but they have no idea how to help you...what do you do?

I am a single parent with a daughter who has similar and quickly progressing issues that are affecting multiple systems and making daily functioning nearly impossible for both of us. I am barely able to work so that we can have medical coverage and a means for living. We've both seen well over 10 specialists each, been looking for answers/getting worse for over 4 years, and are very frustrated with how down right difficult it has been to maneuver our way through the medical system (from getting appropriate referrals, to getting medical records sent anywhere, and so on...).

When the most respected specialists tell you they honestly can't help, what is next? We are clearly deteriorating. (Even the Doctors who want to help, but don't know how, openly acknowledge this.) The closest we've come to an answer is some type of rare autonomic nervous system dysfunction. I'm not sure what to do. Any ideas where to get help when everyone else has said it is too much of a mystery for them?

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  • I posted once before with no responses. When even the top specialists you've seen tell you that there's something definitely going on, they don't know how you're still functioning and keeping a sense of humor, but they have no idea how to help you...what do you do?I am a single parent with a daughter who has similar and quickly progressing issues that are affecting multiple systems and making daily functioning nearly impossible for both of us. I am barely able to work so that we can have medical coverage and a means for living. We've both seen well over 10 specialists each, been looking for answers/getting worse for over 4 years, and are very frustrated with how down right difficult it has been to maneuver our way through the medical system (from getting appropriate referrals, to getting medical records sent anywhere, and so on...). When the most respected specialists tell you they honestly can't help, what is next? We are clearly deteriorating. (Even the Doctors who want to help, but don't know how, openly acknowledge this.) The closest we've come to an answer is some type of rare autonomic nervous system dysfunction. I'm not sure what to do. Any ideas where to get help when everyone else has said it is too much of a mystery for them?Don't give up. That's the first step. You're doing a really good job at keeping going. Someone will find out what's wrong with you and your child and they will know how to help you. Just don't give up. After 30 years of hearing that there's nothing wrong with me, its all in my head, and that I'm just lazy - I self diagnosed a rare genetic disorder. Finally I know what's wrong with me - my mom - my grandmother. The relief I've brought them has been magical. Here's the catch - it's so rare that most of my doctors have either never heard of it or have zero experience with it. They won't even take time to research my condition - our of laziness/ boredom/ whatever... So, bouncing around to different doctors and specialists to find some healing relief, all over again. It's even more frustrating to know what's going on in my body but no idea how to make it better...or find someone to help.Write a list of all of your symptoms - from your head to your toes of everything that's ever gone on with your body. EVERYTHING - vision problems, hair loss, skin changes, joint or muscle pain, headaches, tenderness anywhere, urinary - frequency, bowel symptoms, weight gain or loss, balance issues, headaches - where?when?how long do they last?, foot pain, toe nail discoloration, sleep problems- under sleeping? oversleeping? wake up a lot? have a hard time waking? ---- just anything and everything. One for your child. Start at the beginning with your primary family physician - find out which specialist to try next...I really hope I've helped. Without knowing more of your symptoms I'm limited. Please don't give up...you WILL find the answers to which you seek.s
    Anonymous 42789 Replies
    • February 6, 2010
    • 01:09 AM
    • 0
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  • Hi,I understand what you are going through. I have a severe, rare, immune disease and I suffered for 21 years before I was diagnosed. There are a few organizations out there who specialize in undiagnosed cases. The ones I know of are:1. In Need of a Diagnosis (INOD) - they have a program where they will help you find a doctor and also they maintain a registry of undiagnosed cases.2. National Organization for Rare Disorders (NORD) - they help people who can't get diagnosed get matched with specialists and network with other patients.3. National Institutes of Health Office of Rare Disease Research (NIH ORDR) - they have a wealth of resources including an Undiagnosed Disease program where they will consult with your doctor and also a new clinical trial/study for children with undiagnosed diseases. It's a bit hard to find on the NIH ORDR page, go to the search box and search for 'undiagnosed disease program.'Also you may wish to go here: http://www.surveymonkey.com/s.aspx?sm=aNwyvpbIyxAzOasFVxBVnsUq5sxnF%2fG0cfQH3DMmUpk%3d& and take part in this survey sponsored by the NIH and the National Genome Institute. It's a survey for parents of kids with undiagnosed illnesses being done in order to better understand the emotional trials of what you are going through. When you go to take it, it will tell you who to email at the NIH to get the password to start the survey.Don't give up!! There are resources out there and somebody knows what's wrong. It just may take a while to find them. Luckily there are more resources now than when I began to get sick in the 1980s.Good luck and keep us posted,E
    ErinBBC 17 Replies
    • February 8, 2010
    • 11:25 PM
    • 0
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  • I posted once before with no responses. When even the top specialists you've seen tell you that there's something definitely going on, they don't know how you're still functioning and keeping a sense of humor, but they have no idea how to help you...what do you do? I am a single parent with a daughter who has similar and quickly progressing issues that are affecting multiple systems and making daily functioning nearly impossible for both of us. I am barely able to work so that we can have medical coverage and a means for living. We've both seen well over 10 specialists each, been looking for answers/getting worse for over 4 years, and are very frustrated with how down right difficult it has been to maneuver our way through the medical system (from getting appropriate referrals, to getting medical records sent anywhere, and so on...). When the most respected specialists tell you they honestly can't help, what is next? We are clearly deteriorating. (Even the Doctors who want to help, but don't know how, openly acknowledge this.) The closest we've come to an answer is some type of rare autonomic nervous system dysfunction. I'm not sure what to do. Any ideas where to get help when everyone else has said it is too much of a mystery for them? I am not sure what your daughter's symptoms are but my daughter was progressively sick for three years and the best advice I got was from a doctor who said you just haven't found the right doctor yet. In fact, this web site is very comprehensive and helps you narrow your search. Focus on a timeline of symptoms and try to put the puzzle together. Is it mainly gastro issues, arthritis issues, neurology issues? I told the doctors that I have the missing piece to the puzzle for my daughter and I think it is lyme, which is so much like many autoimmune diseases. They told me that they understand my concerns but lyme is not high on the list of differentials so I should take her to a neurologist. The rheumatologist told me she was not going to take any risks and she was not going to be the one to help me. She told me there are lyme doctors out there so I have to find one. Well I did and in fact, it was a co-infection of lyme called bartonella. She has been on doxycycline for a month and is feeling 90% better so far. Don't give up.
    sohokitty 2 Replies
    • February 10, 2010
    • 03:31 AM
    • 0
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  • Are you open to natural/ herbal medicine? The following link has the recipe for Nervous System Degeneration from one of the best herbal healers today. I've used, and recommended, many of his products, which really were effective. http://healingtools.tripod.com/nrvtncs.html
    Med Student 64 Replies
    • February 10, 2010
    • 05:47 AM
    • 0
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