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.

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.

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

Rare disease research is vital because it offers hope to patients with limited treatment options and helps unravel the wild complexities of human biology. I am thrilled to be part of an organization that strongly supports this critical work, and my hope is that our efforts will lead to groundbreaking discoveries and improved quality of life for those affected by rare diseases. Writing this in honor of my dear friend who continues her fight with sickle cell disease.

I have seen so many families without hope losing children (young and adults) to rare diseases despite the investment of time/money, and emotions. One of the most fulfilling days for me was when one such family was able to watch their child markedly improve about 8 months after treatment!

I am happy to be a part of the Worldwide Clinical Trials Rare Disease team. I love knowing my work and efforts can make a difference for an underserved population.

We work in a way to make the data in clinical trials meaningful to the community. I recently had the honor of hosting a webinar to learn about endpoints that are meaningful to patients and their families living with developmental and epileptic encephalopathies (DEE). Check it out here!

We are so excited to re-launch Rare Moments, our website dedicated to sharing the stories and experiences of the rare disease communities throughout the month of February in honor of Rare Disease Day. Please use this safe space to share your memories, notes, events, thoughts, and resources so that we can help elevate each other’s voices and connect like-minded individuals. So much happens during and ahead of Rare Disease Week, so bookmark this page and visit often to stay current on everything rare disease!