Rare Together

LDA Research consultant, Andrew Grant, highlights the shared common experiences of rare disease patients discussed in our Rare Together podcasts

Imagine waking up one morning, completely unable to move and even worse, unable to communicate.

Or, imagine knowing beyond any doubt that you are seriously ill, but no one, including the medical profession, believes you.

Or, imagine the awful foreboding of knowing that your child may die at any time.

These are just some of the everyday experiences shared by the inspiring people we have featured over the last two seasons of the Rare Together Podcast.

We heard from David (S1, Ep1), in Australia about his long battle with Stiff Person Syndrome, a disease so bluntly named that many people think it’s a joke. Frequently hospitalised, and regularly paralysed, David waited many years before he found a doctor who was even able to tell him what it was, let alone be able to treat it.

Millie (S2, Ep 6) from London, told us that she lives with Sporadic Hemiplegic Migraine; headaches so bad she can barely move or speak and that she was once so desperate for a diagnosis she was prepared to put up with sexual harassment from a physician because he was the only one who offered her some hope of relief.

And we listened with heavy hearts to Jane and Joyce, (S2, Ep5) a mother and daughter from New Jersey who live with the frightening knowledge that Joyce, who has Schwachman-Diamond syndrome, has already outlasted the odds and survived beyond the age where most other sufferers of the disease have passed away.

We encountered diseases with strange, alien-sounding names like Leber’s Congenital Amaurosis, Hypogammaglobulinemia, Relapsing Polychondritis with Tracheobronchomalacia. Others, like Stiff Person Syndrome and Burning Mouth Syndrome (S1, Ep2) are easily imagined, but little understood.

The sheer diversity of rare diseases and their symptoms is staggering, yet despite the differences, time and again, we heard the same themes. Apart from the effects of the disease itself, the pain and the invasive treatments, getting a diagnosis is often the hardest part. Many of our interviewees talked of their years of frustration, being passed from physician to physician, each with a different opinion. Often, their symptoms were dismissed as temporary, imaginary or unimportant. Frequently doctors simply didn’t know what they were dealing with but prescribed solutions anyway. Even family and friends could be dismissive or disbelieving.

Ironically, for many, finally being given a definitive diagnosis, even of a fatal and progressive disease, was a great relief after so long in mental limbo. “At last,” they said, “I knew what I was dealing with.” Often, not knowing, can be worse than the prognosis.

Another frustration is the lack of available treatments. By definition, a rare disease has few sufferers and is far less likely to receive the kind of attention and research-funding, that more common conditions attract. For example, Anna Mae’s 4 year-old daughter is one of only 20 children in the world with CMT 2Z. What are her chances of a breakthrough cure?

From one perspective, these are all heart-wrenching tales of suffering, frustration, pain and despair. But from another they illustrate the inspiring ability of human nature to rise above awful circumstances and find hope, joy and positivity.

Without exception, everyone we met on the podcast has found an accommodation with their illness. Certainly, there are dark times, but they fight and thrive.

David is a cheerful octogenarian who exudes positivity and is determined to live the best life that he can. Millie is a highly successful Business Consultant who troubleshoots misfiring startups. Jane and Joyce are a happy pair who enjoy their dogs and their lives.

And even though support from the medical industry may be intermittent, people have banded together and created their own support networks. Every disease has its own dedicated band of advocates, empowered by social media to discuss their experiences, share advice and advocate for research.

Others have discovered new resources within themselves that they never suspected and that most of us will never need to find. Jonathan (S1, Ep4) shared the little lifehacks he has used to help him cope with his Acromegaly.

Taylor, a TV actor from California (S2, Ep1) diagnosed with Atypical Haemolytic Uraemic Syndrome, writes Rare Disease Girl, a Substack blog Rare Disease Girl Substack aiming, she says, “to give people the tools to stay positive.”

Megan (S2, Ep2) whose son suffers from FOXG1, used her skills and contacts in media to publish Rare Parenting an online magazine for parents of children with all kinds of rare diseases. She also created The Children’s Rare Disorders Fund, a charity successfully sponsoring research into FOXG1 and other conditions.

And occasionally, chance shines a spotlight on rare diseases. A recent, highly personal documentary revealed that like David, Celine Dion has Stiff Person Syndrome and David himself subsequently featured in a Guardian article about the disease.

Megan believes that Rare Diseases “have a branding problem.” She points out that there are around 11,000 disorders classed as ‘rare’ and 95% of them have neither a treatment nor a cure. The very name, Rare Disease, suggests insignificance and unimportance. But with 200 million sufferers worldwide, viewed as a whole, they represent something altogether much larger and far more important.

Listen to, or watch the podcasts on Spotify, Apple or YouTube