A long road to diagnosis
Patient advocate Andra Stratton has become a strong, new voice in the rare disease community
By Meaghan Casey
For nearly four decades, Andra Stratton lived undiagnosed with a condition causing an uncontrolled loss of fat tissue — which is much more alarming than it might sound.
A rare genetic disorder, familial partial lipodystrophy causes a drop in an important hormone called leptin that helps to regulate energy balance by inhibiting hunger. With a person’s metabolic system out of balance, fat can accumulate where it shouldn’t — in the blood or organs — which can lead to life-threatening complications such as insulin resistance, diabetes, high cholesterol, fatty liver disease, pancreatitis and heart disease.
The exact location of fat tissue loss varies from person to person. Some people with lipodystrophy may have areas on their body that look very thin, while other areas might appear large. Some might have very little visible fat tissue anywhere on their bodies and may appear extremely muscular. The latter has been the case for Stratton.
Stratton admits that it’s been easy to recognize the signs in retrospect. As a child, she had asthma, multiple bouts of pneumonia and other health issues, and as she approached her teens, she became increasingly thinner and more muscular looking.
“People kept saying I was just losing baby fat, but it was more than that,” said Stratton. “My appetite became a problem and I had headaches every day. I remember thinking that everyone must have been just as hungry as I was, but they managed it better.”
Most patients with lipodystrophy have markedly increased appetites. Yet, it wasn’t until Stratton’s first pregnancy that more symptoms revealed themselves. Doctors were alarmed when her blood sugar level topped 500 milligrams per deciliter. She was induced at 36 weeks and suffered eclampsia, a rare but serious condition where high blood pressure results in seizures.
“It was terrifying to think I almost died,” said Stratton. “Still, even after recognizing there was a bigger issue with my health, no one was delving any deeper. Outside of a physician I saw in college, who thought it might have been Cushing’s syndrome, but ruled that out, no one was able to give me a diagnosis.”
Partial lipodystrophy it is commonly misdiagnosed as Cushing’s or mistaken as problems associated with polycystic ovarian syndrome or metabolic syndrome while the rest of the health problems are ignored.
Stratton’s second pregnancy, however, turned out to be just as dangerous, and her cholesterol, blood pressure and blood sugar levels remained high. Then, at age 37, she had an abnormal mammogram. She met with an endocrinologist, which turned out to be a turning point.
“He knew exactly what I had,” said Stratton. “It wasn’t what I was expecting, but it was a relief it wasn’t breast cancer. It was the last piece of the puzzle that I didn’t really know I was searching for.”
Stratton began to get involved with advocacy groups to learn more about familial partial lipodystrophy. Her first trip was to San Diego for an event in 2012.
“I finally met people who looked just like me and I heard their stories,” said Stratton. “After that, I just jumped right in to the world of rare diseases and put the wheels in motion to start my own foundation.”
Today, Stratton is co-founder and president of Lipodystrophy United, an organization of committed individuals living with lipodystrophy. Its mission is to provide an interactive community, facilitating support and education for anyone affected by the disease. The organization serves as a resource, increasing awareness in the general population, as well as in the medical and insurance communities. It advocates and acts as a catalyst for new patient diagnosis by assisting healthcare professionals in the understanding of lipodystrophy trends, physical attributes and clinical symptoms in order to aid in the advancement of knowledge, treatment and future research. Stratton works closely with lipodystrophy stakeholders and has been the patient voice in meetings and conferences with lipodystrophy experts in the U.S. and Europe. Earlier this year, she was named one of the 100 most influential people in the healthcare industry by PM360.
“I’m lucky that I’m one of the healthier ones with lipodystrophy,” said Stratton, who has the most common mutation. “I was at one event with a 16-year-old sitting next to me with a gallon-sized bag of medication, and it took everything in me not to sob. I knew after meeting more patients, and thinking about other children being born with this, that I had to do something.”
The genetic disorder did not pass on to Stratton’s children, ages 12 and 15, who have become their mother’s biggest supporters.
“My daughters are wonderful,” she said. “Lipodystrophy is just part of our lives. They see my needles and they recognize when I need rest. I’m raising little advocates. For teens, body awareness is a big issue, but I’m teaching them to see that fat can sometimes be a really good thing.”
Because there are no cures for the disorder yet, management becomes crucial. Tools that vary in efficacy include diet and exercise, traditional therapies for metabolic syndrome such oral and injectable diabetes treatment, hormone replacement therapy, statin therapy and cosmetic options. Stratton was fortunate to have been raised by very health-conscious parents, who didn’t expose her to a lot of sugars and trans fats, which unwittingly helped her in the long run. That, however, is why diagnoses is so important. Stratton says there are a few hundred people in the U.S. diagnosed with familial partial lipodystrophy, but in reality, there are probably thousands living with it.
“What’s been exciting is that we’re getting new individuals reaching out every two or three weeks, so awareness is increasing,” said Stratton.
Treatment is also increasing. Stratton was one of the patients to participate in the clinical trial for Myalept, a leptin replacement therapy developed by Cambridge-based Aegerion Pharmaceuticals, a subsidiary of Novelion Therapeutics. It was approved by the FDA in 2014 for generalized lipodystrophy and further investment is being done in partial lipodystrophy.
“It’s been life-altering for me,” she said. “My health has significantly improved and it’s helped to normalize my appetite to some degree. I’ve also learned to balance and manage my fatigue.”
Another Cambridge-based company is working to develop a protein target to lower levels of triglycerides in the blood. It would help to slow down the metabolism and/or remove triglycerides from the bloodstream.
In addition, a number of other pharma companies are close to opening or designing a study.
“That’s not bad for a rare disease,” said Stratton. “My hope is that in the next few years, we get closer to full diagnosis in the U.S. I’d also love to create full-service centers for patients who are currently seeing six or more physicians for their different symptoms.”
“It’s promising,” she continued. “A few years ago, all we had was advice and traditional therapies. It’s tough to hear a diagnosis and think, ‘now what?’ Now, we have information, physicians’ guidelines, clinical trials, therapies and continuing opportunities to try something new.”