Nancy's Story
Nancy loves imaginative play, Bluey, and her baby sister. She is a friend to every person and animal, and with her chickens is where she thrives. She loves to be in charge if you'll let her, chat with her friends, and is a whiz on roller-skates. She is the silliest, most kind person I (her momma) have ever met. Her resiliency is something to admire as her diagnosis is new to our whole family. Nancy is so kind to her nurses and care team and is very thoughtful toward them. Her favorite person on her care team is Melissa, her Child Life Specialist. In fact, when Nancy grows up, she wants to become a Child Life Specialist!
In September 2022 Nancy got a common cold, within a few days her parents noticed she was extremely fatigued, began bruising and most noticeable had Cola colored urine. TMC determined she was in acute kidney failure and had developed jaundice just over the few hours of being in the Emergency Department. Her care team there determined she most likely had aHUS and needed more extensive care that they could not offer. Banner did not have a bed and so Nancy and her lovey, Baby Hee-Haw, were air-lifted without her parents to Phoenix Children's Hospital. Once at PCH, Nancy received a HemoDialysis port in her chest, three blood and platelet transfusions, and was on Dialysis for 4 days. At PCH she was also tested for genetic abnormalities and was diagnosed with a Positive CD46 Mutation which predisposed her to the disease which was then triggered by the common cold she caught. This genetic finding is what confirmed her aHUS diagnoses.
Nancy's care team was on it from the minute we went to TMC to the day we were discharged from PCH and continue to care for her and monitor her closely. Thanks to a newer infusion called Ultomiris, Nancy should be protected from having long term kidney damage and another flare up. We are so grateful to have access to this medication but their are still so many countries that do not have access to this life saving treatment, we are hoping to help change that.
Atypical Hemolytic Uremic Syndrome
Atypical hemolytic uremic syndrome (aHUS) is an extremely rare disease characterized by low levels of circulating red blood cells due to their destruction (hemolytic anemia), low platelet count (thrombocytopenia) due to their consumption and inability of the kidneys to process waste products from the blood and excrete them into the urine (acute kidney failure), a condition known as uremia. It is a distinctly different illness from the more common disorder known as typical hemolytic uremic syndrome, which is caused by E.coli-producing Shiga toxins (Stx HUS) and is generally foodborne. Most cases of aHUS are genetic, although some may be acquired due to autoantibodies or occur for unknown reasons (idiopathic). aHUS may become chronic, and affected individuals may experience repeated episodes of the disorder. Unlike individuals with typical HUS, who usually recover from the life-threatening initial episode and usually respond well to supportive treatment, individuals with aHUS are much more likely to develop chronic serious complications such as severe high blood pressure (hypertension) and kidney (renal) failure. The signs and symptoms of aHUS result from the formation of tiny blood clots (microthrombi) in various small blood vessels of the body. These clots reduce or prevent proper blood flow to various organs of the body, especially the kidneys. aHUS is a complex disorder and multiple factors, including certain genetic, environmental and immunologic factors, all play a role in its development.