We had an appointment with Kiera’s geneticist yesterday and Kiera was diagnosed with 'KRAS disorder ', specifically Noonan Syndrome which is the result of a mutation in the KRAS gene. She is the only person in the world with her variation of the Syndrome.
Noonan causes her difficulties eating from the bottle, her facial abnormalities, and other physical attributes. G tube are common in infants with Noonan Syndrome. She will likely have issues with food textures. She will likely have learning difficulties, although her intelligence shouldn’t be affected. We will need to have her monitored for heart conditions as well as Leukemia until age 5.
He did say the Syndrome is progressive and should get better over time, especially with early doctor/therapist intervention. He said most medical professionals have never heard of Noonan Syndrome and we will probably have to explain it to everyone.
My husband’s work is no longer working with him regarding taking time off for Kiera’s appointments and so I will need to do that now on top of the other things I’ve taken responsibility for in our relationship. I would do anything for Kiera but I already do things like manage finances which is stressful as it is so I anticipate that I will probably have moments where I am overwhelmed by everything…
But my manager is willing to bend over backwards in order to ensure I am able to tend to Kiera’s medical needs which will help tremendously.
Off topic, I am also studying to renew my Cyber Security industry certification which is sure to add even more stress to my life. So there’s that. Anyways, time to try to go back to sleep. Thanks for listening.
