My oldest daughter, Olivia, was recently diagnosed with Barakat syndrome (Gata 3 or HDR syndrome). Though she is eleven now, we have been battling the kidney disease part since birth and hearing loss since age five. As of now, she does not exhibit any hypoparathyroidism symptoms yet. The biggest stress on our family is not knowing how Barakat will progress or what the future might look like for her. We treat each part of her disease separately because not much is known about how to treat it as a whole. We have discovered that she has severe learning disabilities, but there isn’t enough data to be certain it is because of the disorder. Living life in the unknown is our family’s biggest challenge along with keeping Olivia healthy and thriving.
I believe talking about these diseases does many things. It brings awareness. It brings more data. It unites people. As a family of a kid with a rare genetic disorder, you often feel alone in your battle. Living life not knowing what tomorrow will look like or if there will be a tomorrow is beyond scary and difficult. It is also very lonely as many of us do not know another family going through the same walk, but Rare Disease Day gives a platform for families to share their stories.
The 2021 theme for Rare Disease Day being “health equity” means that there is hope that my child will have the same opportunities for medical care as the next child. It means my child will not be discredited because she has a pre-existing medical condition that was beyond her control. It means heightened awareness and research. It means we must make health care equity a priority to help these kids live their best lives.
We live every day showing our stripes. We do many fundraisers for our hospital and are very involved in our community. On Rare Disease Day and throughout the year, we will live every day to the fullest.
