My daughter Ella was only a month old when the neurologist at the third hospital she was sent to that month said, “Just go home and love her. We don’t know what to do until genetic testing comes back.” At this time she was having around 7 seizures every hour and no medication we had tried was controlling them.
So when the call came 2 weeks later and the neurologist stated “we have an answer” I was so excited. “She has a genetic disorder called KCNQ2. A mutation of the potassium channel. It’s rare so we don’t know much about it. Unfortunately, there aren’t many options and there is no cure.” I stood there in disbelief as she proceeded to tell me they needed to do more research to know how to begin trying to treat her seizures.
The KCNQ2 community has come so far since I took that heartbreaking phone call 4 years ago. Research is advancing and this rare disease is on the radar of scientists, neurologists, hospitals, biotech companies, and researchers.
Can you imagine parents in the future taking that dreaded call but hearing that there is hope? That they do have options. They know how to treat KCNQ2. Maybe there’s even a cure?
The thought of that brings tears to my eyes. What if I told you that this dream might not be too far off? That you could get biotech companies on the path to finding a cure. That your information could get researchers to dig into all that comes with KCNQ2. And that you could do this all while benefiting yourself in the meantime!
Ciitizen is a FREE platform that is designed to help patients collect, organize, and share medical records digitally.
If you live in the US, have your child’s birth certificate, and have 15 minutes to enter information into a database then you can make a difference. This is your chance to make a BIG impact on the KCNQ2 community while doing very little work.
How would signing up for Ciitizen benefit you right now? You would have access to your child’s medical records in one place. Many hospitals discard records after a while so this ensures you always have your child’s records. Plus, you can share documents for second opinions and consults (gut, sleep, pain, vision, etc.).
It has been a busy 4 years since I took that heartbreaking phone call. My daughter Ella has been to 6 different hospitals and countless specialists across the US. Thanks to Ciitizen her records from each institution are in one place. It’s really interesting to be reminded of all that she’s been through and to see how far she’s come. I can compare Ella’s MRI results from last year to one she had when she was only a couple of weeks old, review the long list of medications she’s failed, view PET scans, look at her genetic report, and see when her physical abilities improved when her speech stopped, and the list goes on and on.
If you participate, you are supporting KCNQ2 research. With data readily available, researchers can find commonalities between our loved ones with KCNQ2. This means we are one step closer to answers to the comorbidities that we often question; GI, sleep, pain, autism, CVI, etc. so the research options are endless.
Be part of the change! Let’s inspire researchers, scientists, and pharmaceutical companies to find a cure for KCNQ2. It starts here! It starts with you! Sign up for Ciitizen at ciitizen.com/kcnq2/.
If you are not in the US, just wait! Your turn is hopefully coming soon!
~ Cammy Cook