PPD Recognizes Rare Disease Day

I have been in the clinical research industry for over 20 years and have been so proud to work alongside such dedicated and passionate individuals bringing new therapies to market for those that desperately need it. On this Rare Disease Day, I share purple, to celebrate my mom, Lata, diagnosed last year with #Progressive Supranuclear Palsy (PSP), a rare neurological disease. My mom has always loved the color purple and this year we all dressed in her favorite color to celebrate her 70th year around the sun. This picture is of my mom and my oldest son sharing a sweet moment on her day. It is my hope that I can report to my mom that we have a clinical trial for her and the rest of the patients out there who suffer from this terrible disease, and one day a cure.

My uncle Al has Secondary Progressive MS accompanied by Central Pain Syndrome. Several times a day he clenches every muscle as the spasms and pain take over his body. He has managed through the years with an intrathecal pump which administers pain medication directly into his spinal fluid. Despite all of this, he is the most positive, funny, kind, and grateful person I know. I don’t believe anyone should have to live each moment in pain and that is why I support #RareDiseaseDay. I am thankful I have the opportunity to work for a company that helps advance clinical research into finding cures for these life altering diseases.

The first job I had as a Global Product GM involved a medication used in the treatment of Essential Thrombocythemia, a rare blood disorder. I learned a lot in that role, and I especially enjoyed my opportunities to engage directly with patients and treating physicians. These interactions gave me a deep appreciation and passion for underserved patient populations, where breakthrough treatments are often less common as a result of insufficient scientific understanding of the disease or limited commercial appeal. I’m proud to work for a company that is a central participant in the effort to overcome these challenges.

Personally, Rare Disease Day is a time to celebrate my own family. You see, I love someone rare, and we’ve been personally impacted by advancements in clinical research for #spinalmusculardystrophy. We’ve come a long way over the years, and Rare Disease Day is a time to celebrate hope for us.

The colors of rare disease day remind me of the dichroic glass that I use to make the unique pattern for the pendant that I am wearing. As a pediatrician taking care of pediatric rare disease patients, I was always reminded of the strengths and challenges that each patient faced every day and the unique ways that families and patients showed their strength and resiliency. Each day, PPD conducts clinical trials to identify new treatments for pediatric rare diseases. By decreasing the burden associated with clinical trials for these rare diseases, PPD supports patients through amelioration of their challenges and promotion of their strengths as we travel their unique journey together.

My life has changed in many ways as my rare diseases progress. There are many things my body says “no” to. But the treatment, care and help I receive are the foundation for a life of “yes”. I don’t ever long for what used to be because my heart is so content with what today’s moments give me.

February is the rare disease awareness month. This is the month where we honor the patients and families who fight everyday a terrible disease. Rare diseases are not that “rare” since they impact ~10% of the US population. We recognize and join the fight with patients and families to find new treatments for rare diseases. Please join us in raising awareness of rare diseases.

Rare diseases have a special place in my career journey. The year was 2014 and we were in pursuit of a partnership with Shire, a company specializing in rare diseases. After 18 months of face-to-face meetings, budget reviews, and countless correspondences, we finally won the partnership. I consider rare disease as an inflection point in my career. As Rare Disease Day approaches, I feel privileged to be part of an organization that is making a difference. As rare as some diseases may be, it’s also rare to be able to connect face-to-face with colleagues from half way around the world during the pandemic. This happened last week with my India team in Mumbai.

I joined the Marketing team 3 years ago with the goal to work for an organization that can truly make life changing therapies, especially for those that we love. My daughter, Ashlyn, was born in 2014 with an extremely rare 2p16.3 chromosomal deletion of which there are only a few reported cases in the scientific literature. Ashlyn’s genetic disorder resulted in autism, speech apraxia, and being nonverbal. As part of Rare Disease Day, it is imperative that those of us that can speak out for others who cannot like Ashlyn to emphasize the need and the development of therapies no matter how rare.

Like many, my own family has been impacted directly by a rare disease. While each individual rare disease may be low in prevalence, 10% of the U.S. population suffers from a rare disease. Patients coping with rare diseases often struggle to obtain an accurate diagnosis and may also face a lack of effective treatments; this makes our efforts in enabling our customers to develop new therapies even more important. We treat every day with the urgency we feel in our own families as we help address these unmet medical needs.