An Undiagnosed Patient’s Journey to Diagnosis
Ellen Berry on 07 24, 2010
I 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).
So it wasn’t a brilliant subspecialist fresh out of med school who recognized my symptoms – it was an intuitive general practitioner, who took the time and interest to look carefully at the spots I had identified, and looked past my obesity to consider that I might have unrelated major health concerns.
I made the appointment because I had lost some weight and since then had noticed a lump in my armpit. Since he 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. 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.
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 Plaquenil for my Sjogren’s-related joint pain. 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). The only side effect I’ve noticed from Savella is cold hands and feet.
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. With one small piece of new information (a little weight loss, a noticeable lump) he led me to the answer I’d been seeking for my entire adult life.
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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.
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.
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.
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.
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
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.
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.
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