For people with rare diseases, it feels sometimes like they only have each other
After years of unexplained pain, fruitless tests and mounting medical debt, Amber Blackburn essentially diagnosed herself.
She collected three years’ worth of her labs, pulled out every number that was consistently abnormal, then used Google to cross-reference those with her other symptoms, like pain and fatty lumps all over her body.
Blackburn said it was a relief to finally put a name to the thing that’s ruining her life. But it was hardly a solution.
“Since then I’ve gone to a bunch of different specialists,” Blackburn said. “I’ve been to three or four different pain management doctors and no one believes (I have this condition) or cares and it’s been an exhausting experience. I’ve left more doctor’s offices in tears than I can even count anymore. Wasted thousands of dollars and I’ve gotten nowhere. No help. The only person who will help me is my primary care doctor, but she doesn’t know what else to do for me.”
Blackburn’s condition may be unusual, but her experience is typical, according to the National Organization for Rare Disorders.
People with rare illnesses and genetic conditions are often met with skepticism by the medical community or even turned away, especially if their ailments aren’t easy to see. They’re also frequently accused of looking for drugs.
It happens even in metro areas like Kansas City with several major medical centers. CNN recently published an in-depth article on Doug Lindsay, who not only diagnosed his debilitating adrenal condition himself while a student at Rockhurst University in 1999, but also designed his own surgery to fix it.
Individual rare diseases are, by definition, uncommon. But added together, nearly 10% of U.S. residents have one. Genetic sequencing and editing have given new hope for some patients with inherited conditions, and lawmakers have passed measures like the Orphan Drug Act to reward pharmaceutical companies for developing new drugs for rare conditions. But current payment models don’t really reward doctors for spending hours researching rare conditions that they weren’t taught about in medical school.
“It’s very difficult to find someone familiar with the condition,” said Blackburn’s friend Mary Newhouse, who also has Dercum’s. “So we’re literally left doing a lot of our own research, and not being a medical person, it makes it a bit awkward sometimes.”
Dercum’s disease, or adiposis dolorosa, is a syndrome characterized by tumors of fat, or lipomas, throughout the body. The cause is unknown. Some researchers believe it’s an auto-immune condition, some think it’s a problem with the lymphatic system and some think it may be a connective tissue disorder.
There is no solid count of how many people have it.
Dercum’s is progressive and can become so debilitating that patients are bedridden. The lipomas can push against nerves, causing excruciating pain. They can also invade bone and connective tissue, gradually stealing a person’s mobility. Surgery to excise them can work temporarily, but it’s expensive, painful and not a practical solution for people who have dozens of lipomas in a single limb, like Newhouse and Blackburn.
There is no cure for Dercum’s and only a few treatments that can potentially ease the symptoms.
But Blackburn, 33, said she’s not looking for someone to give her all the answers. She just wants a doctor who will walk with her on the journey to find some.
“Basically just someone who has an open mind,” Blackburn said. “If they don’t know, learn.”
People with Dercum’s disease fly from all over the country — and some other countries — to see Karen Herbst, an endocrinologist with the University of Arizona medical school.
Herbst has written and spoken extensively on conditions that involve lipomas, including Dercum’s, which is named after the University of Pennsylvania physician who first identified it in 1888.
She said the disbelief Newhouse and Blackburn saw in the medical community is not unusual. Herbst said she thinks it’s at least partly due to “fat bias.”
Dercum’s often causes dramatic weight gain, but obesity is still widely viewed as a moral failing, she said.
“I think it’s just the general fact that we as a society do not accept that your fat can be painful,” Herbst said. “You can have muscle pain, you can have tendon pain, you can even have brain pain, but you’re not allowed to have pain in your fat tissue.”
Herbst said that it can be “horrible” for obese people with Dercum’s trying to find a doctor who is sympathetic and willing to put in the time to figure out how to help them. Some lose hope.
“I had a young man ask me to help him euthanize himself in Sweden,” Herbst said. “And he was 42 years of age.”
Herbst said it’s common for patients to burst into tears when she informs them there are treatments they can try other than going under the surgical knife over and over again.
Her treatment plans usually begin with low carbohydrate diets and regular exercise, preferably in a pool where the water pressure actually helps the healing process. She also favors measures to spur the lymphatic system, which flushes toxins, like wearing compression garments and getting soft tissue treatments from physical therapists.
She said anti-inflammatory foods and herbal supplements tend to work better than drugs like aspirin and ibuprofen, and she avoids prescribing opioids if at all possible because they’re addictive and don’t work particularly well for Dercum’s pain.
Herbst is also part of a research study for an injectable drug to dissolve the lipomas. It’s not on the market yet, but she said it’s showing promise.
“I want to give people hope that there are companies that are working on medications that hopefully will be available soon,” Herbst said.
She would like to do a trial using oral chemotherapy for Dercum’s patients who haven’t gotten relief from anything else, but she doesn’t have funding yet.
Aside from the chemo (which would require a referral to an oncologist), none of Herbst’s preferred treatments require a specialist. They could all be ordered by any physician who knows about them.
“It’s a process any provider can go through and try to make additional recommendations other than (surgical) cutting and opioids,” Herbst said.
Herbst said it’s understandable that most doctors don’t know what to do with Dercum’s right now, because even the experts still have plenty of questions about it. She recently submitted a book chapter that she says will be free online when it’s published later this year that will help both patients and providers.
For now, people will continue flocking to Arizona. Herbst’s website, lipomadoc.org, includes hotel info and advice on purchasing travel insurance and working with Canadian health insurance.
“Getting to see her, it takes a year,” Newhouse said.
“I’m still trying to get on the wait list,” said Blackburn.
Even if she does get an appointment, Blackburn said travel costs will be an issue, and her insurance company will probably consider it out-of-network.
She already has about $1,400 in deferred medical debt affecting her credit score.
Newhouse and Blackburn found each other on one of several Facebook pages for Dercum’s sufferers across the globe (there’s also a Dercum Society founded by a person with the condition). Against all odds, they both live in Raytown.
Newhouse, who helps administer one of the groups, said she knows of one other person in the Kansas City area who has it, plus another who thinks she has it but hasn’t been diagnosed.
Newhouse said she’s had small lipomas beneath her skin for as long as she can remember, but they weren’t painful and doctors always told her they were nothing to worry about.
Then, about seven years ago, menopause seemed to dramatically worsen her symptoms. It started with an irregular heartbeat, which she has been able to treat successfully with medication. But now she has more lipomas, and they’ve started to hurt.
“It’s sporadic and it can be intense,” Newhouse said. “It can be literally like being on fire.”
She noticed she can’t lift as much any more. Her gas weed whacker was suddenly too heavy, so she had to switch to a lighter electric model.
She’s had more success lately finding local doctors who will try to help her, and she’s grateful.
Blackburn said that for her, the pain is basically constant. Opioids barely take the edge off.
On a pain scale of 1-10, she said, “on a good day I’m still at a 4 or a 5. It can be absolutely debilitating. Some days my limbs feels like they’re made of broken glass. It’s bone deep pain.”
Both Newhouse and Blackburn said they’ve had hospital staff imply that they’re drug-seeking. For Blackburn it happened when she had a bone marrow biopsy while she was still looking for a diagnosis and her pain didn’t respond to the standard dose of opioids.
“(The doctor) said, ‘Are you sure you’re not a narcotics user? You have to tell me,’” Blackburn said. “And I said ‘Nope, I am not.’ It was horrible.”
The Dercum’s-related pain started in her left shoulder, then went down to her fingers, then hit the other arm and finally her legs. She racked up bills getting tested for things like lupus, rheumatoid arthritis and multiple sclerosis, to no avail. When she was finally diagnosed she had an ultrasound that showed 30-some lipomas in her left arm alone.
Now she has one intruding on the ligaments of her lower leg, and it feels like she has a sprained ankle all the time.
She knows she needs to exercise, but it’s nearly impossible. She loves to hike, but to go any distance now she has to gear up for it beforehand and then set aside a full day for recovery.
That’s rarely an option, because she needs to save her energy for work.
If it’s like this in her early 30s, she wonders, what’s it going to be like when she’s older?
“I’m scared,” Blackburn said. “I don’t want to get to a point where I have to rely on someone for literally everything. I also don’t want to live in this much pain all of the time. There’s some days I just can’t deal with it and I’m afraid it’s going to get to a point where it’s going to be like that every day and I don’t want that. I really don’t.”
“I don’t have a whole lot of hope, unfortunately.”