The Genetics Project Study
A Patient Perspective
Meet Lydia, an adult with Spastic Diplegia Cerebral Palsy (CP), who talks us through her recent experience as a participant in the Genetics Project Study taking place at the Weinberg Family CP Center in partnership with the Institute of Genomic Medicine.
The purpose of this study is to identify potential genetic causes of cerebral palsy with a goal to find and confirm associations between CP and specific genes or specific genetic variants through whole exome genetic testing.
Q: How did you find the CP Center?
A: I was referred to the Weinberg Family CP Center through my doctor at the time and ended up becoming a patient of Dr. David Roye. When I moved back to New York for graduate school, I was experiencing a lot of fatigue and had days when I had to stay in my dorm to rest my legs due to a lot of walking/traveling. When I was born, doctors told my mom that I would never be able to walk, so my ability to walk – and to be as active as I can in my life in general – is a blessing that I do not take lightly. Finding the right information and physicians at the Weinberg Family Cerebral Palsy Center has helped me greatly.
Q: What was your enrollment process in the Genetics Study like?
A: My enrollment process in the genetic study was very easy and simple. I was told about the genetic study at the CP Center and asked if I would like to participate. I said yes, sure, and then I was given information regarding obtaining my records and sharing my medical information and information about my privacy. On a scale of one-to-ten—one being easiest and ten hardest— enrolling in the study was a one. The process was simple and the information I needed was given to me straightaway.
Q: Why did you want to enroll?
A: I decided to enroll in the study because I thought it would be an interesting thing to do, in that it would be something bigger than me and affect others in a positive way. I decided to participate because I would be a part of something that could bring insight to cerebral palsy in ways that may not have been considered in our collective and individual histories as people with disabilities. My agreement to participate hinged on what the future could hold. I know that there are people who I will never meet but because I participated in this study, the information gathered or anything shared could greatly help those people in many ways, such as advice and suggestions for living with CP or other discovered genetic information.
Q: Did the genetic study change your perspective on your CP? What did you learn about your CP in the process?
A: The genetic study hasn’t changed my perspective on my CP, at least not as of yet, but it has certainly piqued my interest in how genetics play a role in our lives whether that be with conditions such as CP or in other ways. The greatest thing I would say, as of this moment, is that I learned about my CP in the process and that it doesn’t define me, regardless of what information or new insights may or may not be found. I learned that I have CP, but I can choose how and in what way it affects my outlook on my life and my view of myself. I feel more confident now talking about my CP and my story with it. For a long time, I did not talk about it with people. I did not mention any struggles I faced or even any accomplishments. But, since becoming a patient at WFCPC and participating in the study where I got to talk to doctors and others about what I been through and experienced, it has gotten easier to talk about and I feel in control of my narrative. I can confidently say, today, that I have CP and I’m not in sorrow about it and one day my story and experience will benefit someone. I know that CP affects people differently and someone else with the same type may not have the same struggles or experiences I have had, but sharing my story, sharing a part of me, even if that’s by way of a genetic study, may bless them or generations to come, in some way.
Q: Any advice you would like to give to others about the Weinberg Family CP Center or Study?
A: My advice to others about the Center and the study is be brave and speak up about any questions, ideas, or concerns you may have because you are truly cared for at WFCPC in every way. From the receptionist, to the nurses to any doctor you may see there – and I am speaking from experience with every appointment I’ve ever had – they are patient, they are kind, and great listeners. People always say you should advocate for yourself, because you know you best. But, if I’m being honest, some of us don’t know how to advocate for ourselves or, like I did, we experienced traumatic things in life that hinder us a little bit with speaking up and asking for help or asking questions. At the Weinberg Family CP Center if you don’t know it’s totally okay to say “I don’t know” so that’s my advice too… it’s okay to not know, say you don’t know even if you have to do it with tears. Ask questions and try things. Because CP affects everyone differently.
Lastly, when and if you participate in this study, remember that it is just that, a study. It doesn’t put any permanence about who you are and how you are defined. But also remember, that you are participating in something bigger than you that could change the world in a great way. Even if it doesn’t, it can change one person’s world and one life changed is just as good as one million.