Doctors' disbelief is a common response to rare disease

By Louise Kinross

Laura Howson-Strong is an occupational therapist at Holland Bloorview who has worked with children with disabilities at two ends of the spectrum: as preschoolers readying for kindergarten at our nursery schools, and as teens preparing for transition to adulthood.

At a Schwartz Rounds last year, Laura shared what it was like to work with our families given her personal experience with rare disease. As a child, Laura had pain that oscillated between her stomach, her chest and her joints. Doctors told her parents she was attention-seeking and “making it up,” she says.

As a young adult her symptoms got worse. She was diagnosed with conversion disorder, “where the physical symptoms are real, but are caused by a reaction to stress or psychological trauma.” It took 11 years, several misdiagnoses and a lot of her own research, before she learned she had a rare connective tissue disease called Ehlers Danlos syndrome. Three years later she was diagnosed with a second condition, mast cell activation syndrome, an immune disease.

“When I heard about the Schwartz Rounds on health-care workers who are also health-care users, it spoke to me,” she says. “I thought: ‘Why don’t I tell people about my diseases and experiences? Why am I hiding, so to speak?’” 

“I realized I was keeping quiet because I had a lot of shame and doubt. In the past, I wasn’t supposed to speak about my symptoms, because they were something I was ‘doing’ to myself. But then I learned this was still happening to others. In 2018, children are still given mental illness diagnoses or going undiagnosed when their bodies are failing them. My story isn't uncommon.”

BLOOM interviewed Laura to learn more about how her personal experiences have informed her work.

BLOOM: What is your current job here?

Laura Howson-Strong: I’m an occupational therapist in experience-based employment programs like Youth@Work, Ready to Work and VolunteerAble. A large focus of my job is helping clients and families identify and build the skilled needed for transition to adulthood. It could be learning about job tasks that you can do and like; speaking to new people; ways to market yourself; and thinking about how you learn and how to ask for accommodations.

I’ve also worked in early learning with children with disabilities from birth to six.

Over time, I’ve heard so many similarities in the goal areas of these two populations. Things like: ‘How do I make friends?’; ‘How do I speak up to ask for help?’; ‘What can I do and what do I enjoy doing?’

BLOOM: What’s the greatest joy of your work with teens?

Laura Howson-Strong: I love being able to be part of successes and solutions. In some cases I’m able to see youth and their families throughout their young adulthood, so I’m able to see the change and the progress over time.

BLOOM: Why is Rare Disease Day on Feb. 28 important?

Laura Howson-Strong: First and foremost, there aren't enough of us to represent ourselves, and many rare diseases go undiagnosed. So we need allies. We need people and communities and organizations to spread the word to bring awareness to these diseases, and to have decision-makers better understand their impact. We need help to advocate for increased funding, knowledge, research, treatment, and possibly cures. I’ve learned that the majority of the rare diseases out there don’t have cures.

For me, I worry that in light of the incredible medical advances going on, a cure for my disease may exist in a cure for another disease. But it might never come to fruition for me, because the right people aren't aware that my disease exists.

Rare Disease day is also an opportunity to celebrate our journeys and uniqueness and beauty and strength. We’re not made to fit moulds, and that should be recognized and honoured.

It's also important because we need to end the unnecessarily complex and sometimes damaging diagnostic processes people experience. Mental illness diagnoses should not be a common step of your medical pathway to getting a rare disease diagnosis.

Right now, denial of symptoms, of services, and of the support we so desperately need within the healthcare system, is a common thread in many of our stories.

BLOOM: What is your diagnosis and how does it affect you on a daily basis?

Laura Howson-Strong: My primary diagnosis is Ehlers Danlos syndrome (EDS). EDS is varied, individual and multi-systemic. It’s a genetic connective tissue disorder with symptoms that range from mild to debilitating. Many of our symptoms have diagnoses of their own.

It affects me daily, all day, every day. The main issues I deal with are chronic pain, joint dislocations, fatigue, gastrointestinal problems and nerve damage.

BLOOM: How do you manage?

Laura Howson-Strong: Daily medications. A lot of them. I also use braces. Some constantly and others at different times of the day. I have ankle-foot orthoses, a neck brace, hip braces, finger and wrist braces. I use a cane for difficult days, long distances and bad weather. 

It's different for each person with EDS, but I manage pain and fatigue through medications, joint injections and positioning—the way I move my body, the way I sit and the way I reposition myself. I set up my days to have a variety of movement and rest activities. I’ve tried a lot of rehab and therapies, and I’ve stuck with swimming therapy and physiotherapy. I’m going to a private specialty EDS clinic in Ohio this year to pay for medical services.

BLOOM: Is there not one in Toronto?

Laura Howson-Strong: Luckily, a new rare disease clinic opened through the University Health Network last year, and I'm on a long wait list for it. At this time, it's a diagnostic clinic only. I look forward to eventually connecting with doctors familiar with EDS through this clinic.

I'll be paying thousands of dollars to go for treatment in Ohio to address loose joints in my neck that dislocate easily. It will likely include Botox, bracing and therapy done by a doctor.

BLOOM: What is your hope for the trip?

Laura Howson-Strong: Pain reduction, better treatment of the symptoms, more EDS-specific knowledge and validation of my symptoms.

BLOOM: You also have an immune disorder. How does that affect you?

Laura Howson-Strong: I have an overactive response to allergens, but it's difficult to determine what allergens because the response is not consistent. It could be clothes, food, the environment or my own heat and sweat. I get symptoms of anaphylaxis such as rashes, swelling, throat closure and difficulty breathing. I take medication to decrease the response, rest, and sometimes go to the hospital. Mast cell activation syndrome can be connected to EDS, but the connection isn't fully understood.

BLOOM: How does having a rare disease add value to your work?

Laura Howson-Strong: I was an occupational therapist first, and a patient second. When I was at school, I had no diagnosis.

When I entered the health-care system as an occupational therapist, I was shocked at how much I struggled to navigate and to speak up. I was educated in health care, yet I became lost and overwhelmed.

When I was diagnosed with conversion disorder, I was shut down by doctors. They would say ‘the basis of this is psychological or psychiatric, and I don’t have the services.’ They refused to refer me on to specialty clinics for the physical symptoms I had.

I lived a few years of my life thinking I was causing this myself. I began to hide the symptoms, the pain, and I just didn’t talk about it. This interview is going to be the first time that many of my friends and family hear that I was diagnosed with a rare disorder, let alone conversion disorder.

One way my experience influences my work is that I really think about how we value the voices of youth. How do we include them in decision-making, and in appropriately understanding their treatment plan and being part of their plan?

I think we're trying hard to do that as an organization, but I still think we have a ways to go to make sure children have their voices and concerns heard during appointments, and have opportunities to get their questions answered in the health system overall.

BLOOM: How do your own experiences with pain and disability inform your work?

Laura Howson-Strong: As a patient, I was so surprised to learn how much the medical system expects of patients and caregivers: to be a system navigator, a doctor liaison, an organizer, a nutritionist, a therapist, a record-keeper. I learned it’s exhausting and sometimes almost impossible.

Today I can better see how much pressure we put on parents to do everything—to keep connected, to be a parent, to be a therapist, to be a doctor, to manage all the appointments, to manage all of the paperwork.

When is there time for parents to self-reflect, network, participate in self-care, or just have fun?

It makes me look at what I expect from families in sessions, and to cut down on the number of recommendations and goals I have. When I set goals with families now, they have to work into their everyday lives and be important in the here and now.

BLOOM: What’s the difference between what’s ideal and what’s doable?

Laura Howson-Strong: We have a tendency within the medical model to want to fix problems, so we give lots of recommendations. We give them with good intentions, but we don’t understand how much it might take for the family to do just one of those things within the day.

With rare diseases and disabilities, you see a lot of different doctors and therapists. You’re given a whole bunch of goals and treatment plans from each one, and the amount of work combined is often overwhelming.

I’m very aware of the guilt clients and parents can have when they don’t accomplish what they were supposed to do. Am I doing everything possible? Should I be doing more?

BLOOM: How have your thoughts about disability evolved?

Laura Howson-Strong: For the last decade I’ve had a firsthand look at how deep the roots of stigma around disability are—the ways people judge those with visible and invisible disabilities.

My disability is primarily invisible. I’m still getting used to being yelled at by strangers for parking in the accessible parking spot. Or trying to figure out what to say to people when they ask: ‘Does your husband regret marrying you?’

I’ve had the experience of crossing the street in downtown Toronto and falling, and I was surrounded by 15 people, and not a single person stopped to help me up. I had to call out ‘Are you kidding me?  have an invisible disability and I need someone’s help.’

I thought I had an understanding of the stigma of disability. But until I became disabled more visibly, I had no idea.

It makes me consider how I build the skills clients and families will need in the health-care system, and in bigger-picture society. Things like advocacy, decision-making, speaking up and resilience.

BLOOM: Do you have any personal advice for youth who feel stigmatized?

Laura Howson-Strong: Trust yourself. Trust your instincts and keep trying. Remember that it’s okay to not be okay sometimes.

Remember that you're not alone. Growing up thinking 'Am I sick, am I not sick?' and then on the other side, having two rare diseases, I've often thought 'Oh gosh. I'm so alone.' But it's important to remember that even if people aren't going through the same thing, there are so many commonalities, so many ways we can come together as a community and group to support each other emotionally.

One of the best things for me is saying 'It is what it is.' I can't control the outcomes, but I can control how I react to it.

We can’t do the health system alone. We need to reach out for help.

BLOOM: How can you find support when your condition is rare?

Laura Howson-Strong: Consider looking up online support groups and communities for disability and rare disease. You could also ask for help from other people in your life, like family, friends, teachers or your doctors or clinicians. There are great youth mentors here at Holland Bloorview. They may not have the same rare disease diagnosis, but they do have firsthand experiences of disability within the health system and the community.

BLOOM: What could we do as an organization to better support families affected by rare disease?

Laura Howson-Strong: At a basic level I wish there was more acknowledgement of rare disease, and access to services. In the health-care system, having a rare disease can restrict your access to clinics, because we don’t fit into the clinic criteria or share the same diagnoses as typical patients. I’d like to see a Holland Bloorview support group or information night for families affected by rare disease.

BLOOM: I would imagine we have hundreds, if not more, families living with rare disease. Jennifer Brea’s film Unrest is creating a lot of buzz about people with rare, chronic illness who are dismissed as being stressed out or mentally ill. What was it like for you to watch that film?

Laura Howson-Strong: Because I haven’t spoken out about my journey through mental illness to rare disease, it was really interesting and validating to hear my own experiences through someone else’s words and thoughts. It really made me feel like I’m not alone in this process, even if the end result is not the same diagnosis. There’s still so much support and love and community that we can give and provide to one another.

BLOOM: There’s a scene in the film Unrest where Jennifer Brea’s husband talks about how their life can feel quite normal and good when they’re on their own. But when they go out into the world, people are constantly reminding them that they aren’t able to do things that their peers are doing.

Laura Howson-Strong: One of the hardest things for me is when people look in and feel sorry for me. Or feel my life could be better. Or feel this can only be a negative thing in your life. Having a rare disorder absolutely turns your life upside down, and things that you wanted, or had planned for, don’t always turn out the way you hoped.

But for every difficult memory I have of my health or the health system, I can think of incredibly positive or funny experiences. Some of my greatest assets have been developed because of my rare disease—like my strength and self-determination, to the point of stubbornness, and my ability to problem-solve. I wouldn’t be the person I am today without the difficulties and challenges I’ve faced.

My disease is progressive. Knowing I may not look the same way in five or 10 years impacts my goals, and what I truly want to spend my time doing. What ultimately matters is I have a family and friends who I love, and I do things in my day that are important and meaningful to me.