An Undiagnosed Patient’s Journey to Diagnosis

on 07 24, 2010

Undiagnosed Patient Celebrates DiagnosisI finally found a diagnosis for the pain I’ve been experiencing for over 25 years. Conscious work on my own emotional health, combined with an understanding of how the Law of Attraction and other Universal Laws actually work, led me to my diagnosis. (Read about it in The Law of Attraction & Health Care Part 1).

By the time I came to see my new internist for a third appointment, I had gone to over 100 doctors for the pain I experienced from head to toe. I had drawn circles around some of the painful spots on my body with a pen in several cases, and created a printable diagram of the body with the pain points circled that I included with a list of all my symptoms, medications, and treatments (including how well they were working).

Although some doctors had generically poked an prodded, none of them had looked at my circled spots with real intention to identify a cause. Instead, I was told it was the fibromyalgia (even though I had three times as many painful spots as a classic fibromyalgia patient, including spots in many areas that are not considered associated with fibromyalgia).

I made the appointment because I had lost some weight and since then had noticed a lump in my armpit. Since the internist was willing to poke and prod it, I decided to show him one or two of the other lumps that have been radiating pain for years in the soft tissue of my neck, arms, stomach, back, sides, hips, and thighs.

My concern was that they were enlarged lymph nodes. He said that he thought they were lipomas – benign fatty tumors that are commonly found and are not of concern – but in my case they seemed to be wrapping around the nerves and causing pain.

I went home triumphant that I had a new keyword to search on – one I hadn’t heard before. I went home, searched on “painful lipomas” and promptly found this article on Adiposis Dolorosa (also called Dercum’s Disease). It is an extremely rare disorder where hundreds of fatty tumors develop, primarily in proximity to the torso, that wrap around nerves and radiate pain and heat. In five minutes I found the name for a medical condition that seemed to explain all of the symptoms I’d had for so long!

Reading the article was like looking in a mirror. It explained every single symptom — the hundreds of painful spots, painful tailbone and breastplate, fibromyalgia, and even the Sjogren’s symptoms – dry eyes, dry mouth, dry skin, and joint pain in all joints. And it added a lot of pieces to the puzzle. Especially when I found that there is one documented case on PubMed where Dercum’s was caused by long term exposure to corticosteroids (I had had Cushing’s Disease due to an undiagnosed pituitary tumor from age 14 to age 40, which causes high levels of corticosteroids, and since having the tumor removed in 2006, had been unable to wean off the prednisone — also corticosteroids — they put me on after surgery to make sure I didn’t go into adrenal crisis).

I printed out the article, circled the matching symptoms, and gave it to my internist who agreed that it seemed to be a promising lead. My next step was to mention it an an upcoming appointment with a rheumatologist at nearby Duke for which I’ve been waiting a year. However, the day before my appointment, his office called to tell me he had decided he wouldn’t be seeing me. No explanation whatsoever, and he was basing the decision on information he had received from my doctor a year prior. Unbelieveable! I was shocked that a medical clinic with such an excellent reputation would be so unprofessional. Good thing I didn’t buy a plane ticket, or take time off of work to drive there… And fortunate (if you don’t acknowledge the Law of Attraction) that I had recently discovered what I had been looking for, or I would have been deeply discouraged. Instead, I believe the appointment “fell away” because it would sidetrack me from my newfound path of information.

For most people with Dercum’s Disease, the diagnosis comes with harsh realities. The fatty tumors keep growing, and there is no way to remove them without causing them to come back faster and in greater numbers. The pain keeps growing, and eventually the tumors crowd out muscles and organs caused severe illness and even death.

The National Organization for Rare Disorders named Dercum’s Disease as #3 in its list of Top 10 Rare Diseases on Rare Disease Day 2009, and the Discovery Health Channel recently aired an episode of Mystery Diagnosis about Dercum’s Disease.

In my case, because I believe the Adiposis Dolorosa was caused by long term exposure to corticosteroids, I am hoping that as I wean off of prednisone, the symptoms will eventually resolve. In the case report that I read, this is what happened.

So, I am actively weaning off of prednisone (which is important for my health, regardless). Previously, I never could have done it — the pain was too great. But I was recently introduced to Savella, a pain management drug for fibromyalgia patients. It has worked wonders!!! Especially in combination with an herbal supplement called Zyflamend by New Chapter that reduces inflammation. I learned about it on DrWeil.com (Andrew Weil, M.D. is considered the father of integrative medicine), and it has helped reduce my Sjogren’s-related joint pain by at least 60%. My overall pain level has improved by 80%, and I’ve lost several clothing sizes due to a reduction in appetite (compared to gaining weight on Lyrica).

I did find the name of Dr. Karen Herbst in San Diego, who is the leading doctor nationally regarding Dercum’s Disease. I hope to travel across the country to see her at some time in the near future.

So, in the end, it turns out that it wasn’t a brilliant subspecialist graduated from a top medical school who at last wielded an accurate diagnosis for me, but instead an observant and intuitive general practitioner who didn’t dismiss me simply because I was obese. With one small piece of new information (a noticeable lump) he led me to the answer I’d been seeking for my entire adult life.

 


 

UPDATE:

In listening to Dr. Herbst’s interviews with other Dercum’s patients (posted on the Dercum’s Facebook group), and reading her suggested remedies for treating some of the symptoms, I learned about how the antibiotic doxycycline seemed to have a dramatic impact in reducing lipomas. I was able to confirm that, as I had recently been on doxycycline, and seen an improvement. Grape seed extract or horse chestnut extract are also found to be effective in improving vein health, therefore reducing lipomas or slowing/stopping their progression and helping with lymphedema symptoms (swelling in the legs and hands).

I talked with another Dercum’s patient who had been using grape seed extract (along with other recommendations from Dr. Herbst) and was encouraged to hear that he started seeing improvement in about 6 weeks. He warned me (correctly) that I would feel worse before I felt better. Doxycycline made me feel terrible! Grape seed extract is milder, but I still can only tolerate so much. Apparently, the misery is a sign that these treatments are working – as the lipomas are reduced, toxins are added to the blood stream causing heightened pain and general malaise. It is recommended to drink lots of water to help clear the toxins.

Many thanks to all of the Dercum’s patients who have written on this site and supported me through the Facebook group!

Comments (18)

 

  1. Celeste Burckhardt says:

    Your story of your constant quest for answers and a proper diagnosis for your medical ailments sounds so familiar to my own. I also have Dercum’s disease and was finally diagnosed after 27 years. I have been called a “kook” and told it was “all in my head” from several people who were suppose to be professional doctors. I also found the answers to my medical quest first by searching “painful lypomas” on the web. Then I contacted the famed Mayo Clinic to find a Dr. who could give the diagnosis. The only thing I worry about now is what all of these “unbelieving” and “under educated” Dr.s have written about me in my records just because they couldn’t find the answers and brushed me off as a nutty person who didn’t know what I was talking about.

  2. Ellen says:

    Celeste, I’m sorry to hear your journey was difficult like mine. I definitely had my share of psych referrals! My favorite quote from a psychiatrist’s notes: “Likes to collect diagnoses.” I’m glad you finally found your diagnosis, and I hope you’ve found some easement through effective management of pain and other symptoms.

  3. Celeste says:

    Ellen, I am so glad that you also received a diagnosis after so many years of searching. I want to thank you so much for sharing your story. I am hoping that the more we all talk about Dercum’s disease, the more other people will finally get their diagnosies and the more the medical community will be educated in Dercum’s disease. Spreding the word about Dercum’s disease is the only way that more research will be done on Dercum’s disease.

  4. After 45 years of episodic Cushing’s, I finally got a diagnosis and a curative surgery. Two months post-op I’m beginning to heal, but had no idea my painful limpomas might be related. I’ll be completely weaned off my post-op steroids in just a few weeks and am praying the limpomas resolve as a result.

    Like Cushing’s, I believe Dercum’s is not as rare as doctors believe, but is only rarely diagnosed. It’s easier to blow patients off than to diagnose something they can’t treat. I am sure that another reason Dercum’s is not diagnosed more is that many patients don’t mention their lipomas because they are focused on other health issues.

  5. Ellen says:

    I am so glad that you finally were able to find a diagnosis and get treatment!! What a long journey… I understand how difficult it can be to diagnose Cushing’s when it only occurs sometimes… I finished weaning off the prednisone in January, so at least I know I’m not creating more lipomas. I am taking grape seed extract, which is known to help with vein health. Based on the research I’ve read, improving the health of my veins should decrease the leakage of lymph fluid that causes Dercum’s lipomas and the lymphedema I have in my ankles and feet. I agree wholeheartedly with you that Dercum’s is not as rare as doctors believe, and that many patients don’t mention their lipomas because they are focused on what seem to be more serious health concerns.

    Wishing you all the best in recovering your highest possible quality of life,
    Ellen

  6. Tina says:

    Your stories are encouraging! I researched painful soft tissue lumps that eventually lead me to reading about Dercums. I printed the info off and gave it to my gp, but I can’t get him to take it seriously. He referred me to a general surgeon who told me I just need to lose weight and refused to listen to me any further, I have seen several “specialists” however I am now seeing a neurologist that I have some confidence in. I just want the correct diagnosis so I know what to expect and can begin some type of treatment. I keep finding more painful lumps.

  7. Wanda says:

    I am 1 of 6 children, my mother is 1 of 6 children and we all have Dercums. The one thing that I believe is it passed from mother to child and only a female can pass it on. There are 4 fathers among us 6 kids. I am the only non smoker and the one affected the least I have 5 lipomas, ( 3 inner right thigh, 1 inner left thigh and my really hurty one right below my rib cage.
    I also believe this comes from scandinavia or germany and look for a female in your history with that background, who may have been obese or known for having the tumors.
    My mother has 100s, my youngest brother has had 100s since high school, an older sister has a bunch of the small ones. Another brother who is very physically fit has the ones in his forearm, near the elbow. I have cousins who have had the big softball size tumors on their backs. It’s awful.
    I do know my sister has a diagnosis on record at the University of Iowa. We knew the name of the disease before Dr. Karen Herbst brought attention to it but it’s nice to know there is someone out there taking this rare and painful disease seriously.
    I am hitting 44 and the neuropathy from it is horrible.
    I wish you all the best.

  8. Ellen says:

    Dear Wanda…

    Thank you for writing. I’m sorry to hear that so many of your family members are hurting from having Dercum’s. I have found that the pain medication Savella has helped tremendously with my pain levels (in addition to suppressing my appetite, allowing me to lose weight). I am also taking Grape Seed Extract, which seems to have helped a lot with resolving lymphedema, which indicates that it might help with resolving Dercum’s symptoms as well (it is good for general vein health, and Dercum’s is caused by leaky veins).

    We have more than Dercum’s in common – we’re the same age, and your email (tuckerkitty) and my kitty Tucker share the same name. 🙂

    All the best to you and your family as well,
    Ellen

  9. Justrobin says:

    Hi Ellen,

    Thank you so very much for writing this!! Our stories are so very similar, down to drawing the circles around the spots and bringing them body charts -its only been three years, and they think Im crazy – ALL because I’m overweight. I really truly want to do something about this – when I’m a little stronger. Right now Im fighting for diagnosis, a medical professional told me I had this, and then said “but dont tell your doctor i told you or i will get in trouble” I went to my primary, and she blamed it on childhood abuse and when I explained that it all got WORSE when I lost 60 lbs she said “really? wow I couldnt even imagine you any bigger!” I have been going blind because I have two on the back of my head, in my neck muscles they are hard ones, and have caused me to have Intracranial Hypertension or too much CSF fluid in my head and unbarable headachess that never go away. I truly believe I have found the answer, now I call the law of attraction into affect that the dermatologist on March 12th will listen!!!! Many many blessings to you for making me feel so less alone tonight –

    In Light!

    Robin

  10. Justrobin says:

    oh my goodness, I just surfed the rest of your site and saw that you have begun writing a book and so have I!!! Im so very excited for you and I cant wait till they take these off my nerves in my arms so I can type. I have been a writer all my life and this disease stealing my words nearly made me give up hope – Its about being unheard, undiagnosed, and also right now I am so very very angry about the discrimination, because the vast majority of our health problems and pain are not addressed simply because we have the misfortune of being obese! Blessed be, dear lady!

  11. Peggy, (bloodboughtchildofthelivingGod) says:

    What a joy and blessing this has been to find this site, I am pleased that the last reply was in 2012. My story begins with EI, (enviormentally ill) MCS (Multiple Chemical sensitivities)
    What i am looking for if anyone wants to email me is….are any of you on a Naturopathy remedy for this besides grape-seed, I have dizziness. The doctors say I am healthy as a horse. They are ‘limpoma’s” and are not painful. In my Physical the doctor said he didn’t have a clue that he guessed I had a “dumb” doctor. So like one of the reply I am copying everything that I fee is legitimate I can get my hands on to give them. My wholeness chiropractor said the very same thing. Both acknowledge the lipomas are there but do not have a clue why they are painful.
    I saw somewhere in a article that it had something to do with digesting fat. If anyone has confirmation on this please advise. Also someone said flax-seed would help and it has on the pain level only for a time and you have to watch the intake of Flaxseed if you have anyyyyyy digestive problems…. so anyone out there help please email me at germilgatroid@yahoo.com put in the subject line Dercums disease or I don’t open it.
    God bless you…… and am interested in the “theory” on drawing it to you.
    Peggy….. “for by His stripes we are healed amen” “all things work together for good …”

  12. lynette mayo says:

    Hi:
    Can you tell me what dose of grapeseed extract is recommended? also horse chestnut

  13. Ellen says:

    Hi Lynette…

    Thank you for your post. I’m not a doctor, so I look up your question and found a couple links that might be helpful for you:

    Here is an article by Dr. Andrew Weil (the father of integrative medicine) about the benefits of horse chestnut extract:
    http://www.drweil.com/drw/u/ART00376/Horse-Chestnut.html

    and grape seed extract, including recommended doses of both.
    http://www.drweil.com/drw/u/id/ART00697

    Here are Dr. Karen Herbst’s (lipomadoc.org) recommendations:
    http://kherbst.startlogic.com/4801.html

    This is a discussion between patients who are taking grape seed extract and other alternative remedies, discussing what has worked best for them:
    http://www.mdjunction.com/forums/fibromyalgia-lumps-discussions/introductions-personal-stories/1011064-i-am-fixing-my-fibro-and-lipomas

    Please note that personally I have found notable benefit in taking the antibiotic doxycycline as well as grape seed extract (although not quite as dramatically). What I encountered, though, which I have heard from other Dercum’s patients is common, is that within a week or so of taking something like grapeseed, I started to feel decidedly yucky – to the point I couldn’t work. As I understand it, this effect is due to the increased efficiency in the blood vessels in keeping lymph fluid from leaking, which raises the level of toxins needing to be cleared from the body. I’ve been told it takes about 6 weeks – 3 months before you start feeling better, and longer before you start noticing results.

    I would definitely recommend, if you try one of these supplements, that you work in partnership with a supportive physician who is knowledgeable about alternative remedies for vascular health (perhaps an integrative medicine practitioner).

    Wishing you ever-improving quality of life,
    Ellen

  14. christine mcgrath says:

    Greetings. I am so sick at this moment in time and nobody can help me. It’s discouraging and i am sick of being sick. I feel so alone and because this is so systemic with me i can’t work or take good care of my kids. I want to make a documentary so that my dr.’s can see my life on a daily basis and see the struggles of everyday life. I have had D.D. for 6 1/2 years now (after the birth of my son and tubal) and i just turned 39. I feel like half of my life is spent waiting to feel better so i can do regular things. Hope is on a string so tight that the shifting wind could break it. It’s not good days and bad days anymore, it changes from hour to hour. How can i expect Dr.’s to understand when my own family doesn’t? The medical costs are staggering and i am on the verge of complete financial ruin. My dreams for the future are sitting outside on the curb with the trash. Why doesn’t anyone ever talk about how happy little diseases like this break up families and devestate them? I feel empowered today b/c i just came from another Dr.’s visit and only half of my issues were addressed. I can’t walk b/c my bones feel like they are going to snap and the bottom of my feet are just burning. Neuropathy has started even though the emg test i had (trying to find out why all my muscles were cramping) showed no nerve damage. This outbreak deffinately corresponds to my vitamin D defficiency. I hope you all are managing better than myself right now.

  15. Ellen says:

    Christine, I’m so sorry to hear about the struggle you’ve been experiencing. I can relate with how you’re feeling, and the symptoms you’re having as well. As you probably know from reading my site, I’m not a healthcare professional — just a fellow patient. I do have some suggestions that might improve your quality of life…

    It’s easy to focus on what’s going wrong — what you can’t do, and your financial situation, for example — because it feels larger than life since you can’t do anything to change it. For me, what has helped tremendously is to let go of the expectations of world, my family and friends, and my own expectations for what life should be and what I want out of life, and revisit them based on what I have and can do right now. I try to catch myself when I’m comparing myself to others, or how I used to live, because it’s an unfair comparison. Instead I try to focus on having a good day, each day, and finding ways to improve my quality of life.

    If you haven’t seen the movie or read the book The Secret, you may find it as helpful as I did. You can view it at http://www.thesecret.tv or through Netflix/RedBox, or get it used on Amazon…

    If you’re not already taking high-dose magnesium supplements, you may want to start — they have helped with my neuropathy tremendously. Here is a link to an article that describes what kind of magnesium I take and other supplements that have helped… https://www.pituitary.org/library/library_detail.aspx?page_id=2629. If you have a lot of muscle cramps, you may be low or high in potassium. If eating bananas seems to prevent them, that’s a good indicator that you may need prescription potassium (over the counter supplements don’t work the same). You might look at recent basic blood tests or check with your primary care doctor about your levels.

    It’s good that you know about your Vitamin D deficiency — it’s really important to keep the levels up because it helps calcium get into your bones, and your heart needs it to work well. If you don’t get out in the sun 30 minutes or more a day (most of us chronic pain folks don’t), you’ll probably need to be on the prescription D supplement for a long time.

    Hope this helps…

    Sharing the journey,
    Ellen

  16. can u please help with Dercum’s disease. are there any doctors around Chicago, Il. that can help me. My dr. has been looking and now he is leaving me. The lumps just won’t stop coming and the pain today was unbelievable. I also have fibromyalgia which was diagnosed in 1980. that’s after about 10 years of “its all in your head. I’m 77 now and trying to hang in there.

  17. Linden Politi says:

    Ellen are you still around? I’d like to know your experience. How are you. I am suffering also.

  18. Ellen says:

    Hi Linden… I am indeed still around. I’d be happy to connect with you — I will send you an email.

    Ellen

Leave a Reply

Understanding Tests & Treatment