Can you introduce yourself and tell me a little about your new role?
I'm Rachel Smith and I'm the Global Head of Rare Diseases here at Parexel. Not to be biased, but I think I have the best job! My role is to bring all of our wonderful rare disease experts across the entire company together. From regulatory and operations to market access, we bring the best of expertise and strategies to our clients with the goal of accelerating treatments to those who need it the most, our patients.

What are you most passionate about in your role?
One of the fantastic things that I get to do within my role as the Head of Rare Disease is work with nonprofit organizations and foundations that are helping to support patients who have ultra-rare diseases. They might be one-of-30 in the world, or even the only patient in the world, with a particular condition. One of the organizations we work with is the n-Lorem Foundation. The N-Lorem Foundation is a nonprofit that develops Antisense Oligonucleotide Therapies (ASOs), individualized to each patient. Every single patient who's treated is a separate clinical trial and has a nano-rare disease that is not commercially viable as a business model, so they don't have any other option when it comes to treatments or therapies. We were able to support them to set up their infrastructure to be able to treat these patients.

As of the end of last year (2022), we treated the first N-Lorem patient. She is a little girl with a rare Central Nervous System (CNS) disorder; it is a progressive and neurodegenerative disorder. She wasn't able to walk or stand up by herself, and it really affected her ability. After the first couple of treatments with ASO, she is now standing up by herself, walking and she's now even trying to teach her daddy how to stand up!

That's the type of impact that we can have as an organization, Parexel is the only CRO I know of that is doing this type of work so it's incredible to be a part of. What better reason to get up and go to work every morning?

Can you share an example of the initiatives our Rare Disease Center of Excellence is working on?

In one of our own internal research programs on Central Nervous System (CNS) rare diseases, like ALS, Duchenne muscular dystrophy, myasthenia gravis, and Huntington's disease, we are speaking with patients, caregivers, and key opinion leaders worldwide. We learn about their daily challenges, diagnosis experiences, perceptions of clinical trials, and more. These are conditions where there are very few treatments available on the market and certainly no cures. Thereby patients are engaged in research, but we must remember they are giving up their time and money. We aim to reduce their burden when participating, by incorporating our clinical trials into their day-to-day, not the other way around. Research projects like this help us create unique solutions for this purpose.

We spoke with a mother of four children, one of whom has Duchenne. She works while caring for her unaffected children and the child with Duchenne who requires a lot of attention. We discussed practical matters such as childcare when she takes her son to a clinic visit. It's important to remember that these patients have lives outside of healthcare, and we need to consider this in everything we do at Parexel.

Recently you got diagnosed with a rare disease yourself, would you like to share about it?

For over 12 years my career has been involved in rare diseases - working with patients, parents, and caregivers - it has been a remarkable and incredible experience. Ironically, as I started my Head of Rare Disease role at Parexel, I was diagnosed with a rare disease myself, an autoimmune disease. It took five years to diagnose after my symptoms of fatigue, paresthesia, and extreme tiredness were initially dismissed. It was put down to hormones because, being a woman, everything tends to get put down to hormones, it was put down to stress in my life as I lost my dad to lung cancer amid a pandemic, and I was told I had depression. By chance, an abnormal blood test and a GP who took the time to really listen led to the diagnosis. I'm lucky to have a treatment available, it prevents worsening but doesn’t always alleviate symptoms and hasn't changed since the 1950s. That is actually fairly common in rare disease treatment. Once there is something available it doesn't get investigated further, which has given me a new perspective on rare diseases and their challenges.

What's been incredible is how supportive Parexel has been. I am extremely busy with my work at the Rare Disease Center of Excellence, but I'm afforded the flexibility to be able to start my day later if I have a morning where I just really can't get up or need to take a little bit of time out in the day. I don't feel like I must let my manager know if I'm going to be starting work late and it's just accepted that I'll get my work done when it's right for me. I've met many people throughout the organization who are impacted by rare diseases. Every single person I've spoken to feels an equal amount of support from Parexel as an organization, which is truly special.

What do you like to do outside of work?

Before my diagnosis, I was super active and used to run. Unfortunately, I haven't gotten back to the running yet, but I'm an avid walker and hiker. I have a lovely little puppy who is my hiking buddy, and we go out most days for a walk in the beautiful countryside where we live in the UK.

I'm also obsessed with sports, particularly football (not soccer, I’m British!). I'm a season ticket holder for Brighton and Hove Albion and literally follow them home and away, traveling 4.5 hours since we moved out to the countryside! Football gives me an opportunity to just completely relax and be part of a community. We're doing well this season, so I’m happy.