Leading up to #RareDiseaseDay on February 28, NORD is sharing stories from patients and caregivers impacted by rare disease. This week, we are sharing Kira’s journey with a Tatton-Brown Rahman Syndrome (TBRS) diagnosis. If you want to share your rare story in honor of Rare Disease Day, visit NORD’s website.
Our daughter Kira Haynes is nine years old, and we live in Washington State. Kira was diagnosed with a mutation of the dnmt3a gene, also known as Tatton-Brown Rahman Syndrome (TBRS). There are less than 200 individuals diagnosed with TBRS worldwide. TBRS is an overgrowth syndrome that causes Kira to have joint hypermobility, tall stature, autistic traits, heart defects, intellectual disability, behavioral and immunity issues, such as neutropenia. Due to the way her cells behave, Kira has her white blood cells checked every three months and has an annual bone marrow biopsy to check for leukemia and myeloid dysplastic syndrome. It’s difficult for such a young person to deal with joint pain, headaches, and all the necessary medical procedures. As parents, we do our best to boost her immunity and improve the quality of her life as a medically fragile child with therapies, medication, and keeping life full of enriching experiences.
#RareDiseaseDay is important to us because it shines a light in the darkness of the unknown. It brings awareness to diseases that most have not heard of. Awareness is a powerful tool in helping to diagnose, treat, and fuel dedicated research on TBRS, as well as many other diseases. Community support is incredibly valuable, and we must do all we can do to increase it. Rare diseases will test your stamina, patience, sanity, and even your faith. Knowledge and awareness are key in moving forward through the unknown.
As the Robert Wood Johnson Foundation says, “Health equity means that everyone has a fair and just opportunity to be as healthy as possible.” To me this means we must be in the know. We must educate ourselves and advocate for our loved ones as well. This will help provide access to services, testing, and research that can provide a healthier lifestyle for individuals suffering from a rare disease.
On Rare Disease Day, we will be wearing our TBRS hoodies and masks as well as making a sign for the car!
To learn more or get involved with Rare Disease Day, please visit NORD’s Rare Disease Day website.