What is ADCY5?
How to support in research for ADCY5.org ?
#adcy5 #rarediseaseawareness #dyskinesia
Dimestore Diamond why and what ADCY5?
Why I choose to bring awareness to the rare disease ADCY5. In October 2020 my daughter was diagnosed with this very rare disease. After all the therapy, doctors visits, and tests. We finally figured what was going on with my little. It has been nothing short of a long road. A whole lot of love, a lot of prayers, and patience.
It took a lot for me to open up about this part of my life but it takes up such a big a beautiful part.
Early on I didn’t think I saw any signs but at about six months is when I being to she something in her change. Her doctor got us into an early intervention program but it was still hard to tell because the signs were so minimal at the time. (Looking back at videos I could recognize the movements). Time goes on she’s hitting all her mile stones but she’s having jerking movements every so often and especially when upset, tired, or sleepy. We see a neurologist. They run all the tests and scans to clear her of any sizers, anything related to neuro. They say she’d grow out of it but I need more answers. I contact the early intervention program again. Now they are seeing the subtle movements (jerking), and seeing something going on here. They immediately started her into physical therapy, speech, and occupational therapy. Some where in between this someone mentioned genetic testing, at the time I had no idea what that could mean for us. I’m more than blessed to have had the team we did to help Violet in our journey. Looking back there’s so many things we could have done to get answers faster. But there are also so many things we did right. Never giving up, staying consistent in therapy, striving to give her independence but always there for her, and empowerment.
With so many beautiful hearts helping us on the way. Violet continues to grow and thrive. And I continue to grow and thrive with her. She’s pushed me to limits I didn’t I could go. She’s showed me what compassion really looks like. We take it day by day. With the links above I hope that you to can understand better as well but also know that it does not look the same for everyone and every day is a different day.