Navigating a Rare Disease: A Mother’s Story

Rare Disease Day interview with Lori Leathers

Rare Disease Day®, which this year is observed on February 29 (the rarest day on the calendar) is a day to honour the millions impacted by unique and often complex conditions. While there are many who were led to Almac by their dedication to clinical development, there are some who were led to our company through very personal experiences. Today, we want to share the journey of Lori Leathers, business development manager at Almac Clinical Technologies and mother of an adult son with Fragile X syndrome.

Lori’s son, Gabe, has special needs arising from Fragile X syndrome (FXS) – a rare genetic disorder that causes various physical, intellectual, and behavioral health issues. Lori’s devotion to caring and advocating for Gabe, who was first diagnosed as a toddler, has been a central feature of her life as a mother and career woman.

Before her son’s diagnosis was even confirmed through genetic testing, Lori participated in twice-weekly occupational therapy sessions with him. Eventually, he also needed physical and speech therapy, which she could accommodate with her job in field-based sales. As Gabe grew, however, and his educational needs became more specialised and time-consuming, she felt the need to resign from her corporate position.

In a move both practical and altruistic, Lori became a self-employed consultant to help other parents in similar situations. “When children with special needs or a rare disease become 21, school districts are no longer responsible for their educational services,” Lori explained. “So, there are a number of practical supports that are needed and financial steps that families must take to ensure that their loved ones receive Supplemental Security Income (SSI) and have funding available in the future. I could share my own knowledge and experience with others, and my schedule gave me the freedom to help Gabe take part in clinical trials as they became available.”

Initially, the trials available to Gabe were non-interventional observational studies, but over time, more studies have opened for medications treating symptoms of Fragile X Syndrome. Currently, Gabe is enrolled in an open-label extension study specifically targeting Fragile X Syndrome. Gabe, now 22, is doing well. He lives independently near Lori, with round-the-clock supervision.

And Lori has once again turned her personal interest into a career focus when she joined Almac six months ago. “I’ve been able to bring my first-hand experience with being involved in clinical studies to emphasise the need for patient engagement in clinical research,” she said. “It is very helpful to be able to share my experience with Sponsors. Plus, I know that my work is helping to get much-needed therapies to patients and families much faster.”

Lori is appreciative of Almac’s work environment and culture. She notes, “Everyone has been very friendly, patient-focused, and supportive of my needs to travel with my son for research purposes. And, I have access to all the most current information about treatments in the investigational pipeline, which I can share it with other families in this space.”

Lori’s roughly 20 years of personal experience in supporting a special needs child has given her a unique perspective that is especially helpful to loved ones of those recently diagnosed with a rare disease. Her encouraging words to them are:

• Be a strong advocate for your loved one. Don’t take “no” for an answer; find answers for yourself and question things you’re not comfortable with. Listen to your instincts.
• Reach out to others for support. Advocacy groups are a great resource for information about potential interventions and clinical trials, and people in the rare disease and special needs communities are very helpful.
• Don’t become discouraged. The road may be long, but there is help along the way, and hope for advances with continuing research.

Lori has been able to navigate the process of caring for Gabe through her persistence and willingness to get involved. She feels fortunate to be working at Almac where her personal and professional interests align so well. May her story shine a light on the unwavering strength and dedication of patients, their caregivers, and the continued pursuit of answers by our clinical research Sponsors and partners.