“The patient network is incredibly important,” Lina Williamson, PhD, explained to me. You see, in her childhood, Lina experienced a number of seemingly unexplainable symptoms: severe and sometimes debilitating leg pain, flu-like symptoms, recurring headaches. As she grew older, she grappled with more symptoms – but struggled with the fact that many doctors did not seem to take her seriously. Eventually, after confiding in a friend, Lina was diagnosed with Ehlers-Danlos syndrome (EDS).
Since then, Lina has worked tirelessly to not only raise awareness around Ehlers-Danlos syndrome but to empower patients to take control over their own health. Together, we spoke about what Ehlers-Danlos syndrome is, how to improve patient and caregiver support, and what the future of rare disease research looks like.
Ehlers-Danlos Syndrome (EDS)
To begin, let’s first discuss what Ehlers-Danlos syndrome is. Ehlers-Danlos syndrome (EDS) is a group of inherited disorders which affect the body’s connective tissue, skin, and joints. These rare inherited conditions result from a variety of genetic mutations which affect collagen and related proteins. Altogether, there are an estimated 13 EDS subtypes, such as hypermobile EDS (hEDS) and vascular EDS (vEDS). An estimated 1 in every 2,500-5,000 people globally has EDS. While symptoms differ based on specific subtype, some potential symptoms may include:
- Hypermobility and hyperflexibility (flexible, loose, and easily dislocated joints)
- Finger, neck, and spine deformities
- Torn muscles and tendons
- Weak muscle tone
- Soft, fragile, velvety skin which tears easily and heals poorly
- Chronic pain
- “Cigarette paper” scars
- Easy bruising
- Intestinal perforations
- Digestive tract malfunction
- Pregnancy complications (in women)
- Heart valve disease
Currently, no cures exist for patients with Ehlers-Danlos syndrome. While some treatments are available, these are largely symptomatic and focus on improving quality of life. For example, braces can help stabilize loose joints, while medications can be provided for pain.
“My experience is a mix of Pharma, hospital service, and working with the rare disease community. I didn’t realize I had a voice that could be heard.”
In the past, Lina actually wrote out some of her experience in a two-part piece on Patient Worthy; you can read Part 1 and Part 2. Within this interview, we begin in childhood. Lina explains that, at the time, her symptoms were not taken seriously by those around her. Further, she says:
“I grew up in a complicated space which was marked by child-abuse and PTSD. A majority of patients with Ehlers-Danlos syndrome are women and of those, a large amount have childhood PTSD.”
In exploring this, it is clear that Lina is correct; she is not alone in making this connection. In a community discussion around Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders, commenters described their own relationship between hEDS and PTSD. Dr. Chad Shepherd also spoke on the topic during the Ehlers-Danlos Society’s 2019 Nashville conference; you can hear his speech here.
The Diagnostic Journey
In her 20s, Lina experienced few – if any – symptoms. She received her college degree and then moved to Europe to pursue her PhD. Later, she traveled back to the United States to take over special projects during the peak of her pharmaceutical career (she has since settled in Barcelona).
But once she reached the United States, some similar pangs and symptoms began to emerge. In her 30s, she began to feel different – as though her body was reacting to things she had never reacted to before. In addition to developing several allergies, she also had joint pain, headaches, and a deep sense of anxiety.
Unfortunately, the diagnostic journey for patients with rare diseases and conditions is often long and arduous. On average, it can take over 5 years to receive a rare disease diagnosis. More so, patients often visit up to 6 or 7 doctors before receiving the diagnosis. For Lina, the most stressful part was feeling as though the doctors did not believe her. She describes her diagnostic process as:
“An odyssey of going from doctor to doctor.”
During this time, many doctors believed that her symptoms were psychiatric in nature. Perhaps a psychologist or a psychiatrist could help? Regardless, Lina knew what she felt and was not going to give up that easily.
So, when she joined the team at a Harvard Medical School’s teaching hospital Brigham and Women’s Hospital (now called MGB), she leveraged those resources and her connection with top scientists, doctors, and researchers, to find an answer.
Receiving an Ehlers-Danlos Syndrome Diagnosis
By her 40s, Lina was experiencing severe chronic pain. She had known a few pain experts and even become friends with a few. But one in particular changed her world when her friend suggested:
“You may have Ehlers-Danlos syndrome, the kind with hypermobility.”
And just like that, a lot more about her life, her symptoms, and her experiences made sense. She explains that there was a sense of relief in figuring out the actual diagnosis, but this also came with struggles. How could she care for herself? What came next?
Her biggest struggle, though, was how to balance her roles as an entrepreneur and healthcare scientist with her newfound role as a patient. She explains:
“A lot of doctors didn’t know what I had, and about 80% of the time, they still don’t know. I’ve had a lot of doctors tell me that I’m not going to teach them anything. I couldn’t use my credentials for people to pay attention to me. Only one doctor has told me that he knows patients know more. I just wish more healthcare providers were open and receptive to learning from patients.”
Empowering the Community
As she learned more about Ehlers-Danlos syndrome, Lina admits that:
“I had to do most of the research on my condition. I lost a lot of trust in traditional medicine that way.”
She shares that a lot of what got her through her struggles, and a lot of what drives her current motivation, is speaking with other patients. Through a friend, Lina was connected with another patient with Ehlers-Danlos syndrome from San Francisco. Lina says:
“She was my guide. She was the one who told me, ‘Listen, you have to see this doctor here for this, and this doctor here for that.’ Some of these doctors use functional medicine and osteopathy and are non-traditional providers who better understand rare disease. Those doctors are the ones who got me out of the stages I needed help with.”
Outside of her guide, Lina has also connected with a patient advocacy group in Boston, as well as patients who taught her about:
“Hydration strategies and taking care of myself when it came to my dysautonomia.”
Through this journey, she has only become more passionate about helping others to succeed as well. When asked what advice she would give to someone who is newly diagnosed, she says:
“I would tell them to create a care team or go through a non-traditional care practice as well. Be empowered and be in control of their own diseases, but still communicate with doctors. I’ve noticed that we empower the doctors to take care of disease, but we also need to empower patients to advocate for themselves.”
Lina knew that she also wanted to take a more actionable, hands-on approach to helping patients. After brainstorming, and finding her business partners, Lina helped to develop TMA Precision Health.
TMA Precision Health
According to the TMA Precision Health website, TMA Precision Health is:
“The clinical decision support platform that gives health systems the power to unlock therapies for rare patients. Our software accesses all known medical science about a rare disease and then curates that information to create a personalized patient report that includes a visual summary of their medical and medication history, state-of-the-art evidence-based disease management recommendations, and suggestions for cutting-edge medications and therapies.”
On Lina’s end, she shares that she began TMA Precision Health to help patients and caregivers better understand their conditions.
She personalized the entire disease progression platform by performing keyword analysis. What were people looking for and how could she bring that right to them? Later, the TMA Precision Health statistical algorithms help connect patients and caregivers to more information, while also providing specific therapeutic options. Through this, Lina also interviewed caregivers and patients to summarize patient journeys and identify adequate care for the following 3-, 6-, and 12-month periods. This also gave people searching for answers a better idea of how their futures might proceed and what help they might need. Lina explains:
“I saw a clinical study that showed how patients often struggle with their conditions, but caregivers also suffer; they are exhausted and sick and have no time to take care of themselves. I wanted to help patients navigate their diagnoses, explain how it’ll progress, what type of medical team to create, and what patterns exist. But I also wanted to stress to doctors that patients and caregivers combined should be considered more deeply.”
Caring for caregivers is a huge motivation and driving force for Lina. She brings up the example of a mother in Colombia caring for two children with ataxia and explains:
“She has to be a caregiver, has to work, has joint pain, has anxiety. Where is her support? My goal is to offer that: are you meditating? Are you taking time for yourself? How can I help?”
Offering Care Beyond Ehlers-Danlos Syndrome
One crucial project that Lina has gotten involved in is providing genetic analysis and information based on genetic information. She explains that:
“I take the genetic report and perform a comparison of published disease progression versus current disease stage. By saying, ‘This mutation means that this protein is not working, and by consequence, XYZ is happening,’ genetics becomes more accessible. I do a written report for their physicians and explain it in a video in plain language: what should be done now, who they should see, and what guidance I can provide based on their results.”
So far, Lina has evaluated approximately 20 patients in Colombia, as well as 3-4 private patients.
So What’s Next?
During her time working with TMA Precision Health, Lina experienced an Ehlers-Danlos syndrome relapse. She became sick for two months and:
“Had to stop working because the stress of work was giving me a lot of neurological signs. I couldn’t see well and had tremors.”
However, she knew that she still wanted to be involved in the rare disease and patient advocacy community. So, she moved onto the TMA board and is now working to lead a foundation that uses traditional native medicine, such as mushrooms, to treat various diseases. She explains that:
“When we created TMA, our idea was that we’d help guide patients through treatment and diagnosis, and all the data would be used for drug discovery. I always, because of my heritage, feel that traditional medicine has helped me, but natural medicine would be an alternative. I want to create a library of natural medicine to see if patients can benefit with lesser side effects, or also have access to cheaper medicine.”
To achieve that goal – potentially daunting! Lina began searching and discovered a foundation in Spain which has already run studies with indigenous groups and tried to integrate native medicine. She felt that if she joined the foundation first, and later worked to introduce that to TMA, she would have better balance. She explains:
“I linked that purpose with my company’s purpose and felt that I can combine those for rare diseases and compassionate use. Overall, I have seen so many people getting better with psilocybin. I even helped create a company to create a natural compound for Parkinson’s disease.”
No matter where she goes next, Lina knows one thing: that she will also pursue the path of drug discovery to make the world a better place for patients with rare diseases.