Max Appeal highlights the need for early diagnosis
Among the most powerful presentations of the Summit was the keynote panel moderated by physician anesthesiologist and now NORD Education Advisory Committee advocate, Dr. Anita Gupta. Dr. Gupta reflected upon her journey as a rare disease survivor, “Nobody cares how much you know until they know how much you care.”
Nobody cares how much you know until they know how much you care.
Dr. Anita Gupta
The common element in what each of them conveyed was the power of their “voice”. By focusing their efforts on education of rare diseases with determination these young leaders are helping to build a community that is influencing the industry and making impactful changes. Their reflections remind us of the importance of amplifying the patient voice and being a compassionate advocate.
Each year, the highlight for me at the Summit is the opportunity I have to connect with patients, their families and patient advocates. For any direct stakeholder in rare disease research or patient care, it is so important to hear from and try to understand patients and the long road they have traveled to diagnosis and onward to treatment. It is also stunning to hear from caregivers and care partners. Their dedication to those they care for is astounding.
Dr. Gupta’s message was compelling, as a physician who was a patient at the face of a scary medical journey over her life, she indicated that, “Investing in the human relationship with patients is so important. When doctors are empathetic, patient outcomes are better.” Dr. Gupta emphasized that doctors really need to take a step back and look at things with the eyes of the patient. Her message really resonated ─ each of us involved in advancing treatments and medical care in the rare disease space must think about the patient first. The impact at every touchpoint is critical insight to really understanding the patient journey and engaging with them along the way. It is through education, awareness and the tremendous work patient advocates do that we can learn to understand the complexities of a rare disease. This understanding will allow us to effectively contribute and help advance new drug development for rare diseases.
It has been tremendous to see gene therapy come full circle in my lifetime, to see its ability to transform different disease communities, far beyond what we thought was initially possible almost three decades ago
The importance of the collaboration for industry and patient advocacy was apparent throughout the Summit. Nadia Bodkin, a trailblazer of rare advocacy, echoed this in a panel on “Patient Access, Recruitment & Retention,” Nadia noted, “Every patient community is different. Industry really needs to shadow patients to get that valuable perspective.”
In my role at UBC, I work with patients and caregivers to assess the feasibility of clinical protocols and better understand small patient populations. By being on the ground, I am able to help alleviate trial-related patient and caregiver burden by offering study participants the option of having site visits conducted at their home through our clinical trial nursing services; and by providing participant travel services to study visits using our concierge service. We work closely with patient advocates and cast a wide net utilizing social media to connect people who suffer from similar diseases and speed drug development by building awareness of clinical trials.
Despite living with this impairment for six years, I can still barely understand it myself and the closest diagnosis I have come to in my own research is I have an auditory processing disorder. That’s what I usually tell new people in my life and explain to them that it doesn’t matter how loud they talk, if I can’t read their lips, I don’t know what they ‘re saying.
It all started the summer before my senior year of high school. It happened gradually, but it was talking on the phone that made me realise something wasn’t right. I’d have my phone up to my ear and hear someone talking but I couldn’t for the life of me understand what they were saying. I’d hear a word here and there, but basically, it all sounded garbled.
I also noticed (and everyone else) that I was saying “what” more often. Since I was already deaf in my left ear, my parents just assumed I was losing my hearing in my right and immediately hooked me up with a hearing aid. All that did was give me a headache because it amplified everything, yet I was still constantly asking people to repeat things.
I was confused because how could I hear someone clicking their pen behind me, opening a bag of chips, the AC running, etc., but not someone screaming my name. In fact, everything sounded ten times louder than usual. I’d get startled by turning the sink on because it sounded like I was standing next to a waterfall, I’d step outside and become overwhelmed by all the street noises, someone would drop something and it’d sound like a bomb went off in my ear.
I became the deaf girl and yet, I couldn’t help but respond to sounds, especially since I was now overly sensitive to noises. My friends were noticing this too and began to think maybe I wasn’t deaf, but it didn’t explain why I was having difficulty following conversations.
I don’t remember when I realised what my hearing problem was, but over the years, I got better at understanding how my ears work. It’s like the sound of your voice goes into my ear, then up to my brain, but then the words get lost. If I close my eyes when you’re talking, I will hear what sounds like a garbled voice but no matter how hard I try to make out a word, I usually can't.
No, I don’t know why sometimes I can’t hear you calling my name or why sometimes I can hear you talking in the other room. If I’m listening to music, I can still hear the beat, the rhythm, and the type of music it is, but unless I heard the song before, I don’t know the lyrics. I can recognise songs I know, though, and learn new ones if I listen to them a lot.
I don’t remember when I realised what my hearing problem was, but over the years, I got better at understanding how my ears work. It’s like the sound of your voice goes into my ear, then up to my brain, but then the words get lost
The only times I found that I don’t hear the music playing is when there’s a lot of other background noise. It’s like my brain can only pay attention to so many different types of sounds at the same time.
I’m lucky that because I was deaf in my left ear basically my whole life, I was forced to learn how to lip read as a kid. Without this ability, I would’ve had a more difficult time adjusting to my new problem. It’s hard at times because it’s like I’m in-between hearing and deafness, and lip-reading isn’t always easy but I try my best or, at least, pretend too.
Hanging out with my friends, I sometimes forget about my disability, as do they, because communication isn’t hard with people I’m comfortable with. They too have learned how to talk to me and if I really can’t understand a word, they’ll spell it out for me.
Maybe in the future, I’ll have an answer to what’s up with my hearing or, at least, find someone like me, but for the meantime, I just go through my day like everyone else, except maybe with a few extra “whats”.
Rare Revolution Editor