Discussions By Condition: I cannot get a diagnosis.

2 sisters, same symptoms...no answers???

Posted In: I cannot get a diagnosis. 62 Replies
  • Posted By: Candle
  • January 21, 2008
  • 03:55 AM

Hello and thank you to whomever takes the time to read this :) ...
My sister and I are suffering from obviously the same disease but we cannot get a real answer.
It all began very quietly...we were both active and energetic children....into our teens we had a lot of aches and pains but figured that was normal. We remained active but as years went by we became more tired...less active, more aches and pains. Eventually we each realised that we never felt good...we always had some comlaint of pain or discomfort. Both of us feel sick or have bowel and digestive issues all the time and cronic headaches.
I shall try to make this as short as possible, we were each diagnosed by diffrent docs with Fibromyalgia which we had never heard of. We accepted that at first though we learned it was not supposed to run in families....just a fluke. Then my sister began to have seizures....I was concerned yes but did not expect it to happen to me because Fibro doesn't cause seizures it must be another fluke.....but it did happen to me too.
Now here we are, slowly worsening as time goes by and a parade of doctors have given us no answers. I being the younger and more rebellious of us have had an even harder time getting the doctors to listen but neither of us has found one yet who takes a real interest in our situation.
I thought maybe neurofibromytosis, our uncle has benign brain tumors but my MRI came back normal. I continue to search and search but I am getting so discouraged. Does anyone have any ideas? Does anyone here have the same symptoms and know what it is? Any advice would be wonderful. This is ******n my whole family and I think my daughter may very well be next. I pray I am wrong but she has the learning problems we had and she complains of pain and being tired all the time. I'll stop I know I am droning on....:o

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  • I hope one of the doctors you saw was a geneticist...? If not, you really need to find one. Seizures can be inherited. Environmental causes are also a possibility.
    aquila 1263 Replies
    • January 21, 2008
    • 06:59 PM
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  • I think I have your answer. You have a very classical case of an extremely rare disease called, Porpheria (acute, more than likely). Most doctors were briefed on it in Med Sch but few have actually come into contact with a patient that has it. It does tend to run in families, genetics play a role in it. It is extremely hard to diagnose due to it's common symptoms: severe stomach pain, sometimes seizures, extreme fatigue, etc. A blood test AND a 24 hr urine sample are the most accurate way to test for it. These have to be sent to a special lab in the US, one of only two I believe in the country that has the ability to test for it. However, the good news is while you are waiting for your lab results, you can do your own informal test for it at home, also for anyone in your family. Collect a morning urine sample, set it in a window that gets direct sunlight. Return the next morning. If the urnine turned purple, light pink, or a reddish color, then more than likely that is a positive test result for porpheria. If a person has porpheria, their urine will turn a color of purple, pink, or reddish when exposed to dirrect sunlight over a given period of time (hours?). I suggest you go online; google Porpheria, and review the symptoms yourself and see what you think.Best of Luck,M&O
    MaddieOscar08 8 Replies
    • January 22, 2008
    • 06:44 AM
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  • another disease that can cause seizures, but does not have to, is called hashimoto's encephalopathy. while it does not explain the joint pain/fibromyalgia type symptoms, it is a rare complication of autoimmune thyroiditis which is genetic and carries with it an increased risk of other autoimmune diseases (which could potentially explain the other symptoms).to check for HE, your doctor needs to check thyroid antibodies- even if your TSH and other hormones are okay (my TSH was always ok, but my antibodies were elevated)not sure if this is what plaques you, but it might be worth looking into given the seizure history in one but not both of you.there are lots of other things this could be. i'd explore neurological and/or autoimmune things carefully...
    Anonymous 42789 Replies
    • January 22, 2008
    • 07:00 AM
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  • Thanks for responding, all of you. I really am very grateful for the input! At this point I need all the help I can get. I will just reply to you all in one post here....ok about the Genetisist, I WISH...I have begged but I have state medical insurance and was told flat out no one is going to do that for me just because I think I have some genetic disease that I have no proof of.:mad: The only reason I got sent to a neuro was because I started having seizures, they didn't care when I said I was seeing flashing lights. Lyme was ruled out already for us both and as far as ES I do believe in that and I do think I am a bit sensitive, certainly doesn't help my issues! I did some research on Hashimotos diease and I figured it didn't fit my symptoms but maybe I need to look into it further..... I know what Porpheria is but I did not know it could cause seizures... I actually was watching something about it once and said to my husband "If that caused seizures I would be putting a urine sample outside in the morning" sooooo now that you informed me of that I think I shall do that....what can it hurt huh? Thank you so much for taking the time to answer me and give me suggestions!! All of you. You gave me more thought and attention than most doctors have lol :)
    Candle 25 Replies
    • January 23, 2008
    • 07:56 AM
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  • I have the same problems and i was diagnosed with ehlers danlos syndrome it is pretty rare but you have all the symptoms it took them a long time to figure the only other person with eds i know i met throuh the hospital but her whole family has it and it is said to be genetic. I really recommend you research it because after I was diagnosed it took a while but they found the right medications to help me. I hope this helps.
    Anonymous 42789 Replies
    • January 25, 2008
    • 01:40 AM
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  • Another possibility you might want to look into is Pernicious Anemia. There is only one truely accurate test for it, a "Methylmalonic Acid" test. Severe fatigue, digestive problems (stomach pains, etc), among other things are only a few of the many symptoms you can have with this B12 absorbtion problem. The good news is there is a very simple cure, B12 injections. The bad news is, if someone has gone a long time undiagnosed with this, the results could be fatal. If someone has Pernicious Anemia and they do not get B12 injections, over time their major organs are depleted of oxygen and will begin to shut down; resulting in a stroke, and/or heart attack among other things. Anyways, it's just a thought. Google it and see what you think. There is someone on here who got so fed up with the constant misdiagnosis they saw in the patients where they worked (RN at hosptial) with this condition that they actually wrote a book about the B12 condition called, "Could It Be B12?". I found it on Amazon. This condition does tend to be genetic. Many people, myself included, will test negative for Anemia, which makes this even harder for doctors to detect, unless they know what they are looking for. People with Pernicious Anemia are not able to "absord" B12 normally like most people. Therefore, even B12 supplements don't help. The only true thing that helps is the actual "injections/ shots". I've heard that once you start the shots it makes a HUGE difference in your quality of life....just another possibility you might want to look into.Best of Luck,M&O
    MaddieOscar08 8 Replies
    • January 25, 2008
    • 02:52 AM
    • 0
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  • I think I have your answer. You have a very classical case of an extremely rare disease called, Porpheria (acute, more than likely). Most doctors were briefed on it in Med Sch but few have actually come into contact with a patient that has it. It does tend to run in families, genetics play a role in it. It is extremely hard to diagnose due to it's common symptoms: severe stomach pain, sometimes seizures, extreme fatigue, etc. A blood test AND a 24 hr urine sample are the most accurate way to test for it. These have to be sent to a special lab in the US, one of only two I believe in the country that has the ability to test for it. However, the good news is while you are waiting for your lab results, you can do your own informal test for it at home, also for anyone in your family. Collect a morning urine sample, set it in a window that gets direct sunlight. Return the next morning. If the urnine turned purple, light pink, or a reddish color, then more than likely that is a positive test result for porpheria. If a person has porpheria, their urine will turn a color of purple, pink, or reddish when exposed to dirrect sunlight over a given period of time (hours?). I suggest you go online; google Porpheria, and review the symptoms yourself and see what you think.Best of Luck,M&OPorhyria runs in my family, my sister has it. It is an incredibly rare disease (the genetic variety) and usually skips several generations before it shows again. The type that is genetic is tested by a bone marrow best or through the stool, it will often come up as a false negative through the 24 hour test. The pain related to porhyria is generally in the upper right quadrant of the abdomen, is often mistaken for gall bladder disease, appendicitis - liver dysfunction. Hemolytic anemia is a symptom, as well as the liver enzymes being way off. The genetic type is sun sensitive, in other words, you go lay out in the sun, you get sick. Sometimes you will end up with scarring on your skin from it There are only three currently in the United States with this type of Porphyria. I do not have it, no one else in my family has it, we don't expect to see it again - maybe possibly in a great great grand child? I'm not stating that you and your sister do not have it, but it is very unlikely that two children in the same family do. If you do ask for testing, make sure it's for the correct TYPE of porphyria, as there are acquired types and inherited types. Also, if you do get tested MAKE SURE the test is protected from light, it can ruin the results of the test. If you do the urine (which is usually for the acute intermittent porphyria) keep it in a paper bag - even in the fridge. Protect it from light. Turn it in to your lab inside the bag, do not remove it - tell the tech that it must be protected from light until the test is ready to be taken. Hope this helps, Big Sis
    Anonymous 42789 Replies
    • January 25, 2008
    • 03:18 AM
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  • we were each diagnosed by diffrent docs with Fibromyalgia which we had never heard of. We accepted that at first though we learned it was not supposed to run in families....just a fluke umm that's kind of untrue. I say that as Fibromyalgia is very common in Chronic Fatigue syndrome (25%+ of fibro patients have CFS and the percentage of CFS patients with FM is even higher (maybe even as high as 50%). The two illnesses are often confused by doctors, some specialists say they are interchangable illnesses) and there IS a genetic link in CFS..so hence then also in the FM. Both myself and my grandmother have FM (hers hasnt gone onto being CFS).. genetics throu her side of the family has also given my cousin CFS and my uncle certain issues too. All of us are on disability due to the severity of this obviously genetic in my family .. illness link. CFS can cause seizures in some..thou ive only heard of that happening in severe cases (and i wouldnt have thought yours would of been severe enough to be doing that from what's been said). Be aware too that lyme tests aint always accurate.. it could be lyme (that fits more in with the seizure activity i think). Ive heard of people with lyme having 3-4 neg tests before finally it showing up positive. Also another possibility is Celiac disease. (That too in 10% of cases gives a false negative test.. the only way to be certain you havent got that if a test comes up negative is via genetic testing for it or getting a bowel biopsy done).
    taniaaust1 2267 Replies
    • January 25, 2008
    • 11:40 AM
    • 0
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  • Once again thank you for taking the time to give me suggestions...:) I am considering what you have all told me.....I did put a urine sample outside and I left it for a long while since it was overcast on and off but it had no reaction....I did however find some information on Porphyria that said that not all forms of the disease cause urine color change.....I am seriously considering if I want to battle my Dr to get tested for it... I looked at more info on Hashimotos and I really don't THINK that is it but I will keep an open mind. I have not yet looked up EDs but I am going to right after this post :p. I will keep an open mind about every siggestion I get and if I find out anything I will let you all know. Untill we meet again, thanks very much and God bless.
    Candle 25 Replies
    • January 25, 2008
    • 06:46 PM
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  • Dear candle, please ask your doc to test you and sis for mycoplasma and ureaplasma infection. According to Maurice Hillman, the chief virologist at Merk, Sharpe and Dhome, everyone in North America is carrying it and possible most people throughout the world. Here is a page you may want to read. This is for real even though it seems proposterous!! http://www.nexusmagazine.com/articles/mycoplasma.html Best wishes, mommy cat
    mommy cat 1654 Replies
    • January 28, 2008
    • 04:07 PM
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  • While you are searching for answers I'd try a course of probiotics for your bowel and digestive problems. This thread gives some insight into how far they can reach.http://forums.wrongdiagnosis.com/showthread.php?t=25322I know it sounds simplistic, but I've seen it pull a young man back from near death, before his doctors eyes, for which they have no answers. Regards
    TerryG 120 Replies
    • January 29, 2008
    • 00:24 PM
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  • I'm sorry to hear that your health system is refusing you a trip to a geneticist. I wish I had some advice for you. Often, nothing is done until the problem becomes life-threatening. It's a pity, because often the geneticist can nail the problem quickly and less expensively. My sympathies. What a world we live in. Sorry for the rant.
    aquila 1263 Replies
    • January 31, 2008
    • 05:41 PM
    • 0
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  • Hi Candle,Can you tell me if you have had any symptoms relating to mental capacity? How do/did you and your sister do in school? Do you have any pains in tendon areas, particularly your achilles, or in your joints? Can you describe your digestive issues a bit? How is your weight compared to the amount of food that you eat?How is your vision?
    John_Wolf 8 Replies
    • January 31, 2008
    • 05:57 PM
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  • You may have to try the jar test multiple times as there are 8 kinds of porphyria and some folks with porphyria haven't gotten a positive on the jar test but still have porhpyria. If no success at first try to catch it during a pain attack. Here are some links for your research to get you started:Porphyria Overviewhttp://www.porphyriafoundation.com/about_por/overview/index.htmlPorphyria typeshttp://www.porphyriafoundation.com/about_por/types/index.htmlPorphyriasInformation for patients & their families:http://www.porphyria.org.uk/facts.htmPorphyria specific sites:http://www.porphyriafoundation.com/links.html There are groups for support at Yahoo:http://health.dir.groups.yahoo.com/dir/Health___Wellness/Support/Diseases_and_Conditions/Porphyria Genetic Disease Foundationhttp://www.geneticdiseasefoundation.org/geneticdiseases.html;) Good luck;You may not have porphyria but it is one of a number genetic metabolic diseases you should look into ruling out. Thanks for responding, all of you. I really am very grateful for the input! At this point I need all the help I can get.I will just reply to you all in one post here....ok about the Genetisist, I WISH...I have begged but I have state medical insurance and was told flat out no one is going to do that for me just because I think I have some genetic disease that I have no proof of.:mad: The only reason I got sent to a neuro was because I started having seizures, they didn't care when I said I was seeing flashing lights. Lyme was ruled out already for us both and as far as ES I do believe in that and I do think I am a bit sensitive, certainly doesn't help my issues! I did some research on Hashimotos diease and I figured it didn't fit my symptoms but maybe I need to look into it further.....I know what Porpheria is but I did not know it could cause seizures... I actually was watching something about it once and said to my husband "If that caused seizures I would be putting a urine sample outside in the morning" sooooo now that you informed me of that I think I shall do that....what can it hurt huh?Thank you so much for taking the time to answer me and give me suggestions!! All of you. You gave me more thought and attention than most doctors have lol :)
    TaylorDeelwithit 382 Replies
    • January 31, 2008
    • 06:05 PM
    • 0
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  • Do repeat tests... especially during a pain attack. Use a clean dry glass jar. Once again thank you for taking the time to give me suggestions...:) I am considering what you have all told me.....I did put a urine sample outside and I left it for a long while since it was overcast on and off but it had no reaction....I did however find some information on Porphyria that said that not all forms of the disease cause urine color change......
    TaylorDeelwithit 382 Replies
    • January 31, 2008
    • 06:07 PM
    • 0
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  • I'm sorry to hear that your health system is refusing you a trip to a geneticist. I wish I had some advice for you. Often, nothing is done until the problem becomes life-threatening. It's a pity, because often the geneticist can nail the problem quickly and less expensively. My sympathies. What a world we live in. Sorry for the rant. Please by all means rant, I do a lot of that myself lol :) Yeah the health system...Let me tell you a brief story.( my turn to rant :p )..I was about 17 or 18 and I noticed one day I had a mass in my abdomin. It was around the size of a small potato and rather uncomfortable to touch...I knew when I felt it that moment I had a tumor of some kind. I raised rats since I was 7 and rats are always getting tumors. So anyways, I walk into a doctors office and I told him, "I have a tumor in my belly and I need someone to do something about it please." The doctor sort of chuckled and then he said...why don't you let the doctors figure out what is wrong with you. Soo long story short-er...He examined me and he said yes he could feel it...he ordered an ultra sound. The mass did not show up on an ultra sound and he began to DISSMISS me! I said you agreed you felt it! He acted a bit annoyed but sent me to a specalist he saying he thought it was probably a hernia. So I was sent to one specalist...who said hernia and sent me to another specalist...and another and another...each passing me off...all saying I had a hernia. So I finally (now 19 years old) I broke down in a doctors office after being asked "Why did they send you to me you have a hernia you need a surgon?" I began to bawl and he said it's ok I will get you to a surgon within the month. He did....the surgery ( a hernia repair) went perfectly....except for the fact that after they opened me they discovered it was....... A TUMOR!! "Oh ha ha you were right, I removed a tumor the size of a lemon from your abdominal wall."....yeah ha @#$%^&* ha!
    Candle 25 Replies
    • February 2, 2008
    • 06:39 PM
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  • I have the same problems and i was diagnosed with ehlers danlos syndrome it is pretty rare but you have all the symptoms it took them a long time to figure the only other person with eds i know i met throuh the hospital but her whole family has it and it is said to be genetic. I really recommend you research it because after I was diagnosed it took a while but they found the right medications to help me. I hope this helps. Thank you for your contribution....I have looked through some stuff on ED and I realized I had heard of it but I cannot find anything that links seizures to it.....Does it cause seizures?? Whatever my sister and I have it causes grand mal seizures but no abnormalities were found in my MRIs or CT scans EXCEPT one time the emergancy room doctors did a CT scan right after I had a bad seizure and my ventricals were enlarged but they could not tell me why.
    Candle 25 Replies
    • February 2, 2008
    • 07:34 PM
    • 0
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  • Dear candle, please ask your doc to test you and sis for mycoplasma and ureaplasma infection. According to Maurice Hillman, the chief virologist at Merk, Sharpe and Dhome, everyone in North America is carrying it and possible most people throughout the world. Here is a page you may want to read. This is for real even though it seems proposterous!! http://www.nexusmagazine.com/articles/mycoplasma.html Best wishes, mommy cat I read this artical.....that is all very frightening to think about....I have wondered at times if this could be related to our father working at the Nevada test sight for many years.....my sister and I both played with his radiation badges and he brought us pretty rocks or even bugs and trantulas from there.....we have one other sister, she does not seem to have our disease and my father did not work at the test sight when he had her, she also has a diffrent mother.....I thought of the test sight but never considered the fact he was involved in the Korean war as a factor. He is a vet....he was a helicopter gunnman at the tender age of 17...he got in rather early but I cannot remember why....he spent time in Korea, getting to know the people and their culture and eating their food. He used to tell me a sick story about how he ate dog meat for three monthes unknowingly. Sorry to ramble but you got my mind going lol...this idea is terrifying, to think our own goverment would hurt us so badly but I have to admit the artical makes sence if you are to open your mind and not think of such things as movie sci-fi bullcrud. My father also told me a story about being in a truck, driving through a part of the forest near the test sight that was so radiated you were not allowed to get out of the truck for any reason.....he swers that he saw a "large cat" crawl out of a pile of twisted metal that was there and that it was the size of a mountain lion but marked like no wild large cat he had ever seen. Black with large white circles around it's eyes and large white circles on it's body. Like a giant housecat he said. I supposed it could have been a Lynx but my Dad should have recognised a Lynx. If our goverment has such little regard for nature and the forest....why not take the leap and think they could hurt us knowingly. Sorry again that I "talk" too much lol....thank you for your thoughts Mommy Cat
    Candle 25 Replies
    • February 2, 2008
    • 07:52 PM
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  • Hi Candle, Can you tell me if you have had any symptoms relating to mental capacity? How do/did you and your sister do in school? Do you have any pains in tendon areas, particularly your achilles, or in your joints? Can you describe your digestive issues a bit? How is your weight compared to the amount of food that you eat? How is your vision? Hi John_Wolf....thanks for asking... Well my sister and I are both very intelligent...( My IQ at 5 tested 147 and was said to be genius borderline) Yet strangly we both had trouble with things like math and spelling....we were both said to be ADHD Now our mental level has declined some and I still cannot spell well or do math beyond a elementry school level. I was subjected to 11 years of EXTREAM doeses of Ritalin. Now tendon pain....yes. I was diagnosed with Tendonitus when my shoulder would not stop throbbing....I have issues with some tendon pain in my wrists and my shoulders and knees. My sister has had corrective sugery for dequirving syndrome. We both have joint and back pain, sometimes our bones just ache. I pop and click loudly all the time....knees, shoulder joints even my ribs and chest bones sometimes pop however has never lead to a dislocation so far. No hyper-extendablity. Digestive issues....we both suffer from an easily irritated tummy......tummy aches, at times extreamly painful....she throws up alot. We both have cronic diarrhea and abdominal bloating and cramping. She was found to have a severly inflamed colon. Once I had to go the ER for a stomach ache so bad I wanted to die and my white blood cell count was high but the pain went away by the next day. Was not explainable. Weight compared to food intake, funny you ask! We are exactly opposits in that area.....she eats like a horse and never weighed more than 130 in her life. I eat like a bird and I have always been chubby. More so lately. Vision.....I had to start wearing glasses at 18...things were getting too hard to read from far back and people were teasing me for the squinty face I made trying to read signs and things. Now that th neurological symptoms have started I cannot look at small patterns or my vision "jiggles" I know there is a name for that but my memory stinks....My sis has just now (41) started really complaining about her vision being bad but who knows what that means to her...she tends to take more than me before complaining. I have astigmatism as well. So did our mom, My daughter is only 8 and already wearing glasses......and having symptoms they cannot explain.:( Soooo I hope I answered your questions well.........without giveing you a headache. LOL....thanks for your time.:o
    Candle 25 Replies
    • February 2, 2008
    • 08:16 PM
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  • Hi John_Wolf....thanks for asking... Well my sister and I are both very intelligent...( My IQ at 5 tested 147 and was said to be genius borderline) Yet strangly we both had trouble with things like math and spelling....we were both said to be ADHD Now our mental level has declined some and I still cannot spell well or do math beyond a elementry school level. I was subjected to 11 years of EXTREAM doeses of Ritalin. Now tendon pain....yes. I was diagnosed with Tendonitus when my shoulder would not stop throbbing....I have issues with some tendon pain in my wrists and my shoulders and knees. My sister has had corrective sugery for dequirving syndrome. We both have joint and back pain, sometimes our bones just ache. I pop and click loudly all the time....knees, shoulder joints even my ribs and chest bones sometimes pop however has never lead to a dislocation so far. No hyper-extendablity. Digestive issues....we both suffer from an easily irritated tummy......tummy aches, at times extreamly painful....she throws up alot. We both have cronic diarrhea and abdominal bloating and cramping. She was found to have a severly inflamed colon. Once I had to go the ER for a stomach ache so bad I wanted to die and my white blood cell count was high but the pain went away by the next day. Was not explainable. Weight compared to food intake, funny you ask! We are exactly opposits in that area.....she eats like a horse and never weighed more than 130 in her life. I eat like a bird and I have always been chubby. More so lately. Vision.....I had to start wearing glasses at 18...things were getting too hard to read from far back and people were teasing me for the squinty face I made trying to read signs and things. Now that th neurological symptoms have started I cannot look at small patterns or my vision "jiggles" I know there is a name for that but my memory stinks....My sis has just now (41) started really complaining about her vision being bad but who knows what that means to her...she tends to take more than me before complaining. I have astigmatism as well. So did our mom, My daughter is only 8 and already wearing glasses......and having symptoms they cannot explain.:( Soooo I hope I answered your questions well.........without giveing you a headache. LOL....thanks for your time.:oYou did great :)Thanks for the information. Regarding the tendon pain/issues. Have either of you noticed abnormal growths on any of your tendons?About the vision, have either of you been checked for cataracts? It doesn't sound like it but with your sister's vision getting worse, it may be a possibility.Also about the chronic diarrhea, how long have you had that? Do both of you have it or just you?Thanks,-John
    John_Wolf 8 Replies
    • February 2, 2008
    • 10:56 PM
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