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May. 2, 2022


Christina Frasson, Virginia

Posted by Sean Roberts

My one (almost two) year-old was born with several rare congenital anomalies. She is a cloacal variant, who had surgery to repair her urogenital sinus and an issue with her colon. She also has some incredibly rare kidneys, including a triplicated collecting system (recorded fewer than 100 times in 150 years) that, for a period, had a kidney stone inside of one of the collecting systems. She has some issues with her bladder that we are monitoring closely with her team, and she will likely always need some type of bowel management. She is reliant on antibiotics and struggles with urinary tract and yeast infections due to her unique anatomy. And, she has chronic kidney disease (CKD). Because of the CKD, we are limited in our options for fever reducers and some antibiotics to keep her kidneys healthy, and each infection is a risk for permanent kidney damage.

Because of her rareness, we travel from Virginia to Ohio to work with doctors who have the most experience in the care she needs. We see doctors in colorectal, urology, nephrology, and dermatology. These doctors were able to preserve function that less experienced doctors told us was not possible. They have given us solutions to some of her medical issues when others told us there were none.

We are in communication with these providers several times a month as we collaborate to maintain her health. With some providers, we are able to have telehealth visits, while with others we can only communicate via phone or MyChart messages. Having more telehealth options is so important for us, not only so that we can continue to communicate with the providers, but also because sometimes video is more helpful than photos, and it’s so helpful to continue building the relationship between our child and her team. Having to go through so many medical tests and procedures is scary for kids who are old enough to understand something painful or scary is happening, but not old enough to communicate their fear or to understand why these awful things are necessary. Building these bonds and trust between patient and provider is so important. The telehealth options also help us limit the need to travel so far from home outside of scheduled checkups and surgery.

Lastly, my child is still too young to be vaccinated for COVID-19, and for families with immunocompromised children, it’s so important to have telehealth options when in person appointments aren’t necessary for care management. Every day we, like so many other rare disease families, are just trying to keep our child as safe and healthy as we can.