The Rare Moments

I am proud and excited to work alongside my rare disease warriors who push hard every day to drive progress. The focus on developing therapies for rare diseases is more than just scientific progress — it’s a movement that gives a voice to those without the numbers. It brings hope to patients, families, and entire communities, turning advocacy into action. By driving diagnosis and treatment for conditions that often go overlooked, we are not just addressing unmet needs; we are reshaping the future for the few who deserve the same urgency and innovation as the many.

Pulmonary fibrosis (PF) is a devastating disease with worse outcomes than many common cancers. Over 2-3 years, you become increasingly breathless, often with a debilitating cough, and end up disabled on supplementary oxygen before sadly dying of respiratory failure. I was one of the few PF patients lucky to get a lung transplant. I now work full-time as a volunteer advocate for people living with the disease. There are currently two drugs that will slow progression of the disease, but we need more and better treatments. Our aim is to STOP pulmonary fibrosis, which means having a variety of anti-viral drugs so that treatment packages can be tailored to individual patients’ needs. To help make this happen, it’s important that pharma companies, researchers, clinicians, patients, and patient organisations work closely together. Seamless working among all these stakeholders is essential.

It is also important that patient organisations like APF are driven by those living with the disease, who we support through local support groups, high-quality patient information, education of health care professionals, and helplines for support to individual patients.

The first PF patient organisations were set up in Europe only 12 years ago. The European Pulmonary Fibrosis Federation, our umbrella organisation, now represents 22 patient organisation from 19 different European countries. We have come a long way, but there is still so much more that needs to be done to STOP PF.

My son Ty had Niemann-Pick type C disease and passed away in 2017. He was the funniest kid. One evening when he was about 6 years old, he was in the bathtub splashing around, and he looked at me and said, “Look Mom, I’m Tytanic!” He was always playing with words and making me laugh. From our rare disease experience, I have learned that you have to speak up and share your story because nothing will change unless people understand the severity of the situation.

One point I would like to make is for people to understand how important newborn screening is for rare diseases. In order for these rare disease kids to be identified early, these rare diseases need to be screened for at birth. The treatments need to be given early before the disease progresses, and it can take years to diagnose the rare disease without newborn screening. The medicines are not as effective as the disease progresses and insurance companies do not want to pay for the medicines if they are not effective. We need to push for newborn screening and support it to get rare disease kids identified so they can get treatments for their disease. Many of these diseases are genetic, so the parents need the information so they can make important decisions about family planning.

I have been lucky to have worked in clinical research for most of my career and to have been part of groundbreaking trials that brought new treatments to rare cancers and to a very rare dermatology condition that had seen no change in treatment in 50 years. I am focused on delivering rare disease trials every day. I am passionate about earlier diagnosis and better treatment options for rare autoimmune diseases, fueled by a friend’s ongoing struggle with multifocal motor neuropathy. My “Rare Moments” are the times I see or hear a small sparkle of hope!

One of the families in our community had an event annually for 10 years that was a 3 day hangout session on a farm for FA families. People camped out, and there were all kinds of activities, such as swimming, fishing, yoga, tie-dying, crafts, fireworks, and all-you-can-eat ice cream. At this event, people with Friedreich’s ataxia (FA) never felt out of place, and we were all able to be together without the awkwardness that can be present around people who might not understand the experience of FA.

My Rare Moment is anytime I get to be with my people.

I’m incredibly grateful to have been asked to play a part in bringing the Rare Disease Campaign to life, working alongside passionate stakeholders to help raise awareness. It’s an honor to use design as a tool to amplify the voices of the Rare Disease community and share their stories. Their dedication and courage continue to inspire me!

I’ve had the privilege of working on clinical trials for rare diseases, each one leaving a lasting impact on me. While these trials often focus on small patient populations, the significance of the work is anything but small. For patients and their families, these studies represent hope — hope for new treatments, for better quality of life, and for a future that may look different from what they’d imagined.

One thing that stands out to me is the incredible resilience of those who participate in these trials. They are not just numbers or statistics; they are individuals fighting for a chance at something better. It’s humbling to be part of a process that could potentially change lives, even if the road is long and challenging.

The complexities of working with rare diseases are vast, from identifying the right patients to ensuring access to groundbreaking treatments. But when a trial is underway and showing progress, it reaffirms the importance of this work. Each step forward is a rare moment — a moment where hope turns into action and where small victories become meaningful milestones.

On Rare Disease Day, I reflect on how far we’ve come and look ahead to the future. We may still have a long way to go, but every trial, every patient, and every breakthrough brings us one step closer to better treatments for these rare conditions.

A rare moment is more like a rare lifetime. My first-born daughter screened positive for PKU. That brought with it monthly specialist appointments, a huge learning curve, and crazy conversations with family members on identifying which long-gone relatives could possibly have had PKU but not identified since there was no screening at the time. Luckily, my daughter is a “mild-hyperphene” and did not need meal supplements. As a baby and young child, we used to describe her as having a prickly personality.

Fast forward to adolescence – when the normal PKU range was lowered, and she became eligible to start oral sapropterin. In less than a day, she was like a different kid – no longer prickly since things didn’t irritate her as they used to. Somewhere in young adulthood, she realized that taking sapropterin makes her feel better. As a parent, I sit back and thank the research world for creating the screening test back in the 1960s and for finding a treatment for PKU. We have a long way to go to find ways that positively impact everyone with this genetic defect, but the scientific community continues to work toward treatment, and this makes a mother’s heart happy.

With just over a week remaining until Rare Disease Day and my one-year anniversary at Worldwide Clinical Trials, I am taking the opportunity to reflect on the past year. It has been a remarkable experience working alongside an exceptional group of colleagues, all deeply committed to enhancing the lives of patients affected by rare diseases. Their unwavering passion and determination to excel continually inspire me.

This year, I have had the privilege of interacting with numerous advocacy groups, physicians, and patients who share this same dedication. I eagerly anticipate the upcoming year, hopeful for new advancements that will benefit many patients with rare diseases.

On a personal note, this year has provided me with firsthand insight into the daily challenges faced by these patients and their caregivers, as a close family member has navigated their own diagnostic odyssey and treatment journey. This experience has made me even more passionate to continue to work as hard as I can to support this community.

Rare Disease Day is so important for the community Gene People serves – it is the one time that the whole global community comes together to be heard and listened to. One of my favourite Rare Moments is my first Rare Disease Day. We had made a decision to use our social channels to really amplify the voices of the partner organisations in our network. We had lists of organisations to look for and hashtags to keep a watch on. We attended multiple online events and posted, liked, and reposted over and over again. Seeing the event trend on social media meant a lot because it means so much for the community we are honoured to serve. Really looking forward to this year’s day and hoping that it means that people living with a rare disease get the attention they need and want.

Genetic Disorders UK

Genetic Disorders UK is a registered charity with a vision to improve the lives of individuals and families affected by genetic disorders.

www.genepeople.org.uk