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.
thanks so much for the post!
I hope that having a name for it helps you and your husband! Glad that you the information you need to help make decisions.
It’s also okay to sit with your partner and see if you need to reallocate responsibilities. If you’re doing all of the appointments are are getting overwhelmed, sit calmly and see if there is any shifting around that could help you both to make this a bit more doable. So glad your manager is helping you out, that’s so great! Good luck with your certification! Remember to squeeze in some self-care!
Hi Sapphire
Thank you for the updates about Kiera. I know there is a lot on your shoulders right now but let me tell you you are so strong and you are hangling it like a champ. Even though you might not think so you are amazing. You and Keira both. Please make sure to take some time for yourself sometimes. I know its hard and that there is a lot to do but someting so small as a morning coffee can make wonders if really enjoyed. Dont worry about the new condition that Kiera has too much. Yes its not good but it is managable and its actually good that the doctors discovered it so soon so you can prepare for it. My brother has diabetes since the age of 4 and he is a lawyer now. I believe in Kiera. She is a strong brave girl and she will show it to everyone. Keep us updated. I really hope things will only improve from now on.
I’m so tired. Kiera has had a bad day today. Very fussy. She is trying to eat from the bottle but she’s very gaggy today and has thrown up several times which means multiple extra bottles, clothing changes and loads of laundry. Plus my work load is increasing again. Then my brother called needing a ride, which I offered to give him after work but thankfully he found someone else. He lives 30 mins drive away. My only solice right now is the fact that it’s Thursday and I only need to make it through 1 more day. I was lucky to eat today when Kiera fell asleep for a little while.
