Help in getting a diagnosis for pain/odd sensations
August 4, 2009 10:28 AM Subscribe
My niece, age 29, has had a series of progressively more severe and widespread symptoms (pain in her joints and limbs, odd sensations) that have developed over the last 10 months. She has had difficulty getting a diagnosis as well as a lack of guidance from medical professionals in trying to pursue how to get a diagnosis (and hopefully treatment). Up until this time, she has been healthy, leading an active life but as of now, she is severely hampered in doing the
simplest things. I would be most grateful for some guidance from the hive mind in getting a diagnosis for this puzzling set of symptoms, what medical specialty should be consulted and whether there is anything else that should be included as helpful to a physician approaching this case. Apologies in advance for the lengthy description.
My niece’s current symptoms (developed since October, 2008) include a constellation of things: pain, achiness and some numbness in her wrists, forearms, elbows, ankles, and knees as well as the tops of her feet; these symptoms are present when she is still and when moving. Symptoms similar to the pain in her forearms are in both shins (but this pain is not as constant as the aching in her arms). She also has swelling in her hands that increases when she exercises. She describes sensations in her joints as "crunching, cracking, twinging, tingling, and burning". The
pain is continuously present. She also experiences muscle twitching and what she describes as "sparking sensations" throughout her body. One other detail is that she stopped menstruating for a period of 4 months. She is unable to perform simple tasks like bending her elbows to read a book without experiencing pain; she is unable to lift anything or move without increased pain. She also has weakness of her wrists and weakened rotary movement of the wrists. She has less pain in her elbows after sleeping but she feels this is because the joint is
relatively immobile; the pain in her legs decreases with exercise. She is not excessively fatigued but has some trouble sleeping because of the pain.
She has sought and received medical treatment of various kinds (two neurologists, orthopedic chiropractor (a MD), prolotherapy, cold-laser or infrared laser treatments at the pain sites) none of which has been particularly effective although the Prolo therapy in wrists increased motion in wrists and cold laser therapy in ankles and feet caused sensations to diminish and seemed to prevent further spread of symptoms. She has been tested for MS, diabetes, ALS, arthritis, thyroid problems as well as a blood panel, all have been negative. A nerve conduction study was
performed from her neck to her hands in February, also negative except a "positive Johnson's" (not sure what that means) on the left arm. She is currently being tested for Lupus. A recent physical therapy work up on her forearms and wrist showed a weak wrist grip is weak; the physical therapist thought that the ulnar and radial nerves are compromised. She has recently moved home so that my sister can help with all of this; this week she saw a general practitioner who recommended seeing a neurosurgeon (she has an appointment next week).
These troubling symptoms also led to anxiety and depression, symptoms that were not present before; a recommended psychiatric consult confirmed this diagnosis. Pristiq was prescribed, as the psychiatrist felt that depression was contributing to her pain. Four months on the Pristiq provided no relief from anxiety or pain; she was then prescribed Celexa (currently) but the anxiety and pain continue.
The current symptoms followed a progression, unfolding over time. The short version is that the sensations began before the onset of the pain; the original site of the sensations were her arms and then spread to her leg joints. I can give a lot more details on this if anyone thinks it important. She has also had a number of more specific minor injuries/conditions. In order: October, 2008: pulled her left plantar fascia, but this was improving. November
2008: she was in an accident at work. She collided with a door that was pushed open by someone going the wrong way, jarring her whole system and injuring her right wrist. Chiropractic treatment improved the hand injury but she also noticed swelling in her hand (at this time she was on workman's compensation). December 2008: she sprained a foot while running (the same foot injured in October, 2008); injury improved without treatment. End of December 2008: ear infection, received antibiotic ear drops and had ear rinsed; she still feels some intermittent pain in that ear but was rechecked in June, 2009 and there was no sign of infection. February, 2009: after swimming she felt a pop in her left knee that was followed by a bruise and an aching knee. June, 2009: she felt a snapping of her right elbow after trying to tie her shoe followed by increased pain.
Again, we would be most grateful for any assistance in trying to get a diagnosis for this puzzling set of symptoms.
My niece’s current symptoms (developed since October, 2008) include a constellation of things: pain, achiness and some numbness in her wrists, forearms, elbows, ankles, and knees as well as the tops of her feet; these symptoms are present when she is still and when moving. Symptoms similar to the pain in her forearms are in both shins (but this pain is not as constant as the aching in her arms). She also has swelling in her hands that increases when she exercises. She describes sensations in her joints as "crunching, cracking, twinging, tingling, and burning". The
pain is continuously present. She also experiences muscle twitching and what she describes as "sparking sensations" throughout her body. One other detail is that she stopped menstruating for a period of 4 months. She is unable to perform simple tasks like bending her elbows to read a book without experiencing pain; she is unable to lift anything or move without increased pain. She also has weakness of her wrists and weakened rotary movement of the wrists. She has less pain in her elbows after sleeping but she feels this is because the joint is
relatively immobile; the pain in her legs decreases with exercise. She is not excessively fatigued but has some trouble sleeping because of the pain.
She has sought and received medical treatment of various kinds (two neurologists, orthopedic chiropractor (a MD), prolotherapy, cold-laser or infrared laser treatments at the pain sites) none of which has been particularly effective although the Prolo therapy in wrists increased motion in wrists and cold laser therapy in ankles and feet caused sensations to diminish and seemed to prevent further spread of symptoms. She has been tested for MS, diabetes, ALS, arthritis, thyroid problems as well as a blood panel, all have been negative. A nerve conduction study was
performed from her neck to her hands in February, also negative except a "positive Johnson's" (not sure what that means) on the left arm. She is currently being tested for Lupus. A recent physical therapy work up on her forearms and wrist showed a weak wrist grip is weak; the physical therapist thought that the ulnar and radial nerves are compromised. She has recently moved home so that my sister can help with all of this; this week she saw a general practitioner who recommended seeing a neurosurgeon (she has an appointment next week).
These troubling symptoms also led to anxiety and depression, symptoms that were not present before; a recommended psychiatric consult confirmed this diagnosis. Pristiq was prescribed, as the psychiatrist felt that depression was contributing to her pain. Four months on the Pristiq provided no relief from anxiety or pain; she was then prescribed Celexa (currently) but the anxiety and pain continue.
The current symptoms followed a progression, unfolding over time. The short version is that the sensations began before the onset of the pain; the original site of the sensations were her arms and then spread to her leg joints. I can give a lot more details on this if anyone thinks it important. She has also had a number of more specific minor injuries/conditions. In order: October, 2008: pulled her left plantar fascia, but this was improving. November
2008: she was in an accident at work. She collided with a door that was pushed open by someone going the wrong way, jarring her whole system and injuring her right wrist. Chiropractic treatment improved the hand injury but she also noticed swelling in her hand (at this time she was on workman's compensation). December 2008: she sprained a foot while running (the same foot injured in October, 2008); injury improved without treatment. End of December 2008: ear infection, received antibiotic ear drops and had ear rinsed; she still feels some intermittent pain in that ear but was rechecked in June, 2009 and there was no sign of infection. February, 2009: after swimming she felt a pop in her left knee that was followed by a bruise and an aching knee. June, 2009: she felt a snapping of her right elbow after trying to tie her shoe followed by increased pain.
Again, we would be most grateful for any assistance in trying to get a diagnosis for this puzzling set of symptoms.
IANAD, but have you looked at symptoms of Lupus, eg as here. Though obviously the test will tell you.
posted by A189Nut at 10:34 AM on August 4, 2009
posted by A189Nut at 10:34 AM on August 4, 2009
Has she been tested for lyme disease?
posted by emd3737 at 10:35 AM on August 4, 2009 [1 favorite]
posted by emd3737 at 10:35 AM on August 4, 2009 [1 favorite]
seconding emd3737 - I immediately thought lyme disease after reading the description.
posted by j at 10:38 AM on August 4, 2009
posted by j at 10:38 AM on August 4, 2009
Paging ikkyu2.
Has she seen a rheumatologist?
posted by kldickson at 10:42 AM on August 4, 2009 [1 favorite]
Has she seen a rheumatologist?
posted by kldickson at 10:42 AM on August 4, 2009 [1 favorite]
Gout is a joint disease? What's her diet been like? Hobbies?
posted by gensubuser at 10:43 AM on August 4, 2009
posted by gensubuser at 10:43 AM on August 4, 2009
thirding lyme disease
posted by thewalrusispaul at 10:50 AM on August 4, 2009
posted by thewalrusispaul at 10:50 AM on August 4, 2009
IANAD. First rule out any drugs/medications/supplements/dietary changes. Some have these side effects.
posted by weapons-grade pandemonium at 10:56 AM on August 4, 2009
posted by weapons-grade pandemonium at 10:56 AM on August 4, 2009
Has she had joint x-rays and/or joint taps performed?
posted by peanut butter milkshake at 11:04 AM on August 4, 2009
posted by peanut butter milkshake at 11:04 AM on August 4, 2009
Nthing Lyme disease, this seems to be often missed. Any of the doctors she's seeing should be able to test it for it, but any plain old GP will do.
posted by poppo at 11:09 AM on August 4, 2009
posted by poppo at 11:09 AM on August 4, 2009
Not that I'm hoping it's MS, but it does remind me of what relatives with MS are going through, and note that MS often avoids diagnosis, even with specialists, for a long time.
posted by Billegible at 11:10 AM on August 4, 2009
posted by Billegible at 11:10 AM on August 4, 2009
I was going to say fibromyalgia, as Thorzdad did. My father had similar symptoms over a period of time and it turned out to be celiac-related fibromyalgia. It took a ridiculously long time to be diagnosed as doctors were mostly unfamiliar with encountering it.
posted by wackybrit at 11:20 AM on August 4, 2009
posted by wackybrit at 11:20 AM on August 4, 2009
My sister has symptoms similar to these. They started when she was 13 with a rapid onset, and have come and gone with varying severity over the years. She's 30 now. She had much difficulty getting diagnosed, and went through many of the tests that your niece has. Arthritis was ruled out early on. She had some Lupus indicators, but not enough for a diagnosis. For many years she had the label "non-specific connective tissue disorder". Then she was without insurance for a number of years. She was never incapacitated, but experienced lots of pain, weakness, and had limited mobility from time to time.
Last year she started a job with good insurance, in a city with a number of good doctors. She found a great rheumatologist. They looked at psoriatic arthritis, and then eventually went back to rheumatoid arthritis. Even though she wasn't hitting all of the clinical indicators for RA, they started treating her for it. After being on some sort of a drug commonly used for chemo (I forget the name), she is now on Enbrel. And its fairly amazing. She is in full remission, and her activity level has increased. She's also having a great deal of success in PT to regain some of the mobility and range of motion she lost over the years.
I think the calls to see a rheumatologist are good ones.
posted by kimdog at 11:21 AM on August 4, 2009
Last year she started a job with good insurance, in a city with a number of good doctors. She found a great rheumatologist. They looked at psoriatic arthritis, and then eventually went back to rheumatoid arthritis. Even though she wasn't hitting all of the clinical indicators for RA, they started treating her for it. After being on some sort of a drug commonly used for chemo (I forget the name), she is now on Enbrel. And its fairly amazing. She is in full remission, and her activity level has increased. She's also having a great deal of success in PT to regain some of the mobility and range of motion she lost over the years.
I think the calls to see a rheumatologist are good ones.
posted by kimdog at 11:21 AM on August 4, 2009
Lupus and Lyme disease were the two I thought of. I've known people with each and the symptoms sound spot on.
Obtw, a friend of mine was in a lot of pain - not the same as your niece, very localized - last year and her doctors tried to brush it off as depression. It turned out to be non-Hodgkins lymphoma. I'm not trying to be all 'OMG CANCER' but if the doctors are ho-hum about it, time to press harder or get new docs.
posted by 8dot3 at 11:27 AM on August 4, 2009
Obtw, a friend of mine was in a lot of pain - not the same as your niece, very localized - last year and her doctors tried to brush it off as depression. It turned out to be non-Hodgkins lymphoma. I'm not trying to be all 'OMG CANCER' but if the doctors are ho-hum about it, time to press harder or get new docs.
posted by 8dot3 at 11:27 AM on August 4, 2009
You should also check out CRPS.
From WebMd
What Are the Symptoms of Complex Regional Pain Syndrome?
The symptoms of CRPS vary in their severity and length. One symptom of CRPS is continuous, intense pain that gets worse rather than better over time. If CRPS occurs after an injury, it may seem out of proportion to the severity of the injury. Even in cases involving an injury only to a finger or toe, pain can spread to include the entire arm or leg. In some cases, pain can even travel to the opposite extremity. Other symptoms of CRPS include:
* "Burning" pain
* Swelling and stiffness in affected joints
* Motor disability, with decreased ability to move the affected body part
* Changes in nail and hair growth patterns. There may be rapid hair growth or no hair growth.
posted by doorsfan at 11:34 AM on August 4, 2009
From WebMd
What Are the Symptoms of Complex Regional Pain Syndrome?
The symptoms of CRPS vary in their severity and length. One symptom of CRPS is continuous, intense pain that gets worse rather than better over time. If CRPS occurs after an injury, it may seem out of proportion to the severity of the injury. Even in cases involving an injury only to a finger or toe, pain can spread to include the entire arm or leg. In some cases, pain can even travel to the opposite extremity. Other symptoms of CRPS include:
* "Burning" pain
* Swelling and stiffness in affected joints
* Motor disability, with decreased ability to move the affected body part
* Changes in nail and hair growth patterns. There may be rapid hair growth or no hair growth.
posted by doorsfan at 11:34 AM on August 4, 2009
Wikipedia entries for lyme disease and lupus.
Lyme disease at an advanced stage sounds like one of the things that's possible; was she out hiking any time in October of 2008? Has she had any bull's-eye rashes? (Not all patients develop a bull's-eye rash.)
One part of the Wikipedia article for lyme disease that jumped out at me was 'Lyme disease may be misdiagnosed as multiple sclerosis, rheumatoid arthritis, fibromyalgia, chronic fatigue syndrome (CFS), lupus, or other autoimmune and neurodegenerative diseases.'
posted by kldickson at 11:37 AM on August 4, 2009
Lyme disease at an advanced stage sounds like one of the things that's possible; was she out hiking any time in October of 2008? Has she had any bull's-eye rashes? (Not all patients develop a bull's-eye rash.)
One part of the Wikipedia article for lyme disease that jumped out at me was 'Lyme disease may be misdiagnosed as multiple sclerosis, rheumatoid arthritis, fibromyalgia, chronic fatigue syndrome (CFS), lupus, or other autoimmune and neurodegenerative diseases.'
posted by kldickson at 11:37 AM on August 4, 2009
You might also want to try looking at reactive arthritis (previously Reiter's syndrome). It's an odd one, especially in women but it's worth looking at.
posted by Sophie1 at 11:38 AM on August 4, 2009
posted by Sophie1 at 11:38 AM on August 4, 2009
Have the docs looked into the possibility of some sort of autoimmune issue? In any case, I agree with the calls to see a good rheumatologist.
posted by scody at 11:46 AM on August 4, 2009
posted by scody at 11:46 AM on August 4, 2009
IANYD, but I do have ehlers-danlos syndrome - hypermobility type, and your niece's symptoms sound almost identical to mine. The joint paint, the tingling, the injuries from attempting to do simple things such as tying shoes. Your neice's knee popping in the pool followed by bruising and pain sounds just like what happens when my knee dislocates. There have also been studies showing an association between joint hypermobility and panic/anxiety disorders.
If you think it could be EDS the best doctor to see to help get a diagnosis would be a geneticist. You can also look into the Beighton Criteria (scroll down to see the pictures) to see if she can perform any of the maneuvers. Keep in mind that frequent injury can limit range of motion, so the criteria can't give you a definitive diagnosis.
EDS is frequently misdiagnosed. It took 8 years before my doctors figured it out. In fact, at one point I went through a month of intravenous antibiotics for treatment of Lyme disease because of a false positive on one of the tests.
Memail me if I can answer any questions for you.
posted by Kicky at 11:52 AM on August 4, 2009
If you think it could be EDS the best doctor to see to help get a diagnosis would be a geneticist. You can also look into the Beighton Criteria (scroll down to see the pictures) to see if she can perform any of the maneuvers. Keep in mind that frequent injury can limit range of motion, so the criteria can't give you a definitive diagnosis.
EDS is frequently misdiagnosed. It took 8 years before my doctors figured it out. In fact, at one point I went through a month of intravenous antibiotics for treatment of Lyme disease because of a false positive on one of the tests.
Memail me if I can answer any questions for you.
posted by Kicky at 11:52 AM on August 4, 2009
IANAD: The above are all definite possibilities, I just wanted to throw the possibility of gout on the table. Less likely than the others, but you might as well get it ruled out.
Also, one doesn't "diagnose" fibromyalgia. It's what doctors settle on when they can't pin it on anything else, basically. If they say fibromyalgia, they're basically giving up on the diagnosis. That doesn't mean the doctor is necessarily wrong, but it dies mean that you should get a second and third opinion if that's what your doctor settles on.
Good luck in dealing with this!
posted by Citrus at 12:36 PM on August 4, 2009
Also, one doesn't "diagnose" fibromyalgia. It's what doctors settle on when they can't pin it on anything else, basically. If they say fibromyalgia, they're basically giving up on the diagnosis. That doesn't mean the doctor is necessarily wrong, but it dies mean that you should get a second and third opinion if that's what your doctor settles on.
Good luck in dealing with this!
posted by Citrus at 12:36 PM on August 4, 2009
Nthing lyme disease, first thing I thought of. I had it myself, but caught early before any symptoms and got treated. A gymnast friend wasn't so lucky and had a lot of pain and turmoil because of it. Also, lyme is chronically mis- and under-diagnosed, so unless you're specifically testing for it, it is often ignored.
posted by X-Himy at 12:43 PM on August 4, 2009
posted by X-Himy at 12:43 PM on August 4, 2009
On the simplier side of things - my wife suffered from constant pain similar to what you are describing above for months. It was a Vitamin D deficiency. For some reason, the first test came back negative so the docs ruled it out and were chasing all the more complex diagnosis listed above. A retest confirmed it and a Vit D suppliment solved the problem.
You might want to confirm that her Vit D was tested.
posted by COD at 12:47 PM on August 4, 2009
You might want to confirm that her Vit D was tested.
posted by COD at 12:47 PM on August 4, 2009
It does sound something like Lyme Disease. But be extremely careful about convincing yourself (or her) that's what it is because Lyme Disease is one of those internet diagnosis du jour that a ton of people convince themselves they have because the symptoms are fairly common.
posted by Justinian at 1:38 PM on August 4, 2009
posted by Justinian at 1:38 PM on August 4, 2009
Rheumatologists are pretty uniformly very smart, even for doctors, if my sample is at all representative. They deal with symptoms like your daughter's which are confusing and look like a lot of things. They tend to think about presentations systematically rather than rely on pattern recognition. Go see one.
posted by a robot made out of meat at 2:00 PM on August 4, 2009 [2 favorites]
posted by a robot made out of meat at 2:00 PM on August 4, 2009 [2 favorites]
Nthing the recommendation to see a rheumatologist. Even if the rheumatologist can't rule things in, you can rule them out, which will help.
posted by immlass at 2:49 PM on August 4, 2009
posted by immlass at 2:49 PM on August 4, 2009
She has had difficulty getting a diagnosis as well as a lack of guidance from medical professionals in trying to pursue how to get a diagnosis (and hopefully treatment).
It took years for me to get a doctor to accept my assertion that I was in pain. Then it took more years to get one to tell me my problem was fibromyalgia/chronic fatigue syndrome.
Here's the moral of that short story: Your niece must be assertive in advocating for her needs. When a doctor spends three minutes with her and is prepared to move on to another patient, she has to stop said doctor and ask more questions and ask about other tests. If she gets the brush-off from a doctor, lose him and get another one, and get answers from him. I do not mean to insult the members of the medical profession, but they don't, won't, and can't possibly care about your niece's problem more than she does. She has to be her own best friend when dealing with doctors and not take "no" or "we'll see" or "I'm not sure" for answers.
posted by bryon at 4:16 PM on August 4, 2009
It took years for me to get a doctor to accept my assertion that I was in pain. Then it took more years to get one to tell me my problem was fibromyalgia/chronic fatigue syndrome.
Here's the moral of that short story: Your niece must be assertive in advocating for her needs. When a doctor spends three minutes with her and is prepared to move on to another patient, she has to stop said doctor and ask more questions and ask about other tests. If she gets the brush-off from a doctor, lose him and get another one, and get answers from him. I do not mean to insult the members of the medical profession, but they don't, won't, and can't possibly care about your niece's problem more than she does. She has to be her own best friend when dealing with doctors and not take "no" or "we'll see" or "I'm not sure" for answers.
posted by bryon at 4:16 PM on August 4, 2009
Lyme Disease jumped to my mind soon after starting to read about your daughter's condition. Lyme is unfortunately often misdiagnosed - and even a negative Lyme test is often inaccurate, meaning sometimes doctors have to diagnose based on the symptoms. I share many of your daughter's symptoms - many aches and pains, nerve pains in various parts of my body, and for me, cognitive fogginess, muscle weakness, digestive problems, chemical sensitivity and the development of allergies. One thing Lyme is known to do is to mess up the immune system - one reason for symptoms in so many areas of the body. It's also known to get into the nerves and mess them up, and into the brain. Lyme is a very underdiagnosed epidemic - please look at the International Lyme and Associated Diseases website (it's at www.ilads.org). That said, of course your daughter may have something else, and I hope it's something that can be treated more easily than Lyme. If you have any questions, please feel free to email me. After struggling for years and years to find answers for myself, I feel an obligation to pass on what I know, though it's frustrating that Lyme Disease is still not very well understood. Blessings to you and your daughter.
posted by bross12 at 5:54 PM on August 4, 2009
posted by bross12 at 5:54 PM on August 4, 2009
Just wanted to add that if you really want to get good testing and a thorough evaluation for Lyme, you need to know the right doctors to see (not all doctors are "Lyme literate", or up on all the research). Let me know if you need a recommendation.
posted by bross12 at 5:55 PM on August 4, 2009
posted by bross12 at 5:55 PM on August 4, 2009
Hopefully you don't mind if I pass on one more thing. This article is an excellent description of someone who had symptoms just like your daughter's, and how it got diagnosed:
http://www.wickedlo cal.com/roslinda le/news/lifestyl e/health/ x1307076102/ Roslindale- woman-battles- against-Lyme- disease
Please take a look at it. I know for me, reading things like this made my jaw drop when I finally had an answer as to what was going on for me.
posted by bross12 at 6:05 PM on August 4, 2009
http://www.wickedlo cal.com/roslinda le/news/lifestyl e/health/ x1307076102/ Roslindale- woman-battles- against-Lyme- disease
Please take a look at it. I know for me, reading things like this made my jaw drop when I finally had an answer as to what was going on for me.
posted by bross12 at 6:05 PM on August 4, 2009
Millionthing the rheumatologist. The history of plantar fascitis could point to spondyloarthropathy, a group of auto-immune diseases that includes reactive arthritis, psoriatic arthritis, and ankylosing spondylitis. There is no blood test for these diseases, although the HLA-B27 gene can suggest a tendency towards them not everyone with spondyloarthropathy is HLA-B27 positive. They are diagnosed clinically based on symptoms.
posted by hydropsyche at 9:14 PM on August 4, 2009 [1 favorite]
posted by hydropsyche at 9:14 PM on August 4, 2009 [1 favorite]
She needs to see a rheumatologist for sure. This could be any of a number of things so let me caution against you overthinking the armchair lyme disease diagnosticians above. It could be lyme disease or lupus, sure, because these diseases have very protean and varying symptoms as do a variety of other conditions. They are among a group of diseases that are often described as "great mimickers" as they can present in so many different ways.
And prolotherapy, cold-laser or infrared laser treatments at the pain sites? I mean seriously. Get a diagnosis before jumping to what are most assuredly ineffective interventions which may delay appropriate care.
posted by drpynchon at 10:02 PM on August 4, 2009 [1 favorite]
And prolotherapy, cold-laser or infrared laser treatments at the pain sites? I mean seriously. Get a diagnosis before jumping to what are most assuredly ineffective interventions which may delay appropriate care.
posted by drpynchon at 10:02 PM on August 4, 2009 [1 favorite]
This thread is closed to new comments.
posted by Thorzdad at 10:34 AM on August 4, 2009