Next Step: Bone Marrow Transplant and Donor Search
We are so grateful to report that Ariana's counts are recovering and her numbers going up over the weekend! It looks like we will be going home soon based on if labs continue to look steady.
We wanted to share our next step after this second cycle of chemo: Bone Marrow Transplant. About 3 weeks into the first cycle - about the same time she got really sick after her treatment - the oncologist told us that Ariana's genetic results showed that she has an exceptionally rare mutation. There's a lot of science speak about what this means, but in lay man's terms, KAT6A and NCOA2 are the genes that are affected which lead to the mutation causing Ariana's cells to not function properly.
Our cells each have a set of instructions—our DNA—that tells them how to function. Sometimes these instructions can get rearranged in a way that causes problems - like AML.
In our case, our gene mutation is KAT6A-NCOA2 fusion. This means that two genes—KAT6A and NCOA2—that normally do very different jobs, got accidentally put together in a way that they shouldn't be. Imagine you're cooking dinner and accidentally follow two recipes at once—half of one and half of another. You end up with something that doesn’t turn out right, even though both original recipes were fine on their own. Literally like Rachel from Friends making her dessert...
This genetic change likely helped trigger the leukemia by telling certain cells to grow and multiply when they shouldn’t have. It’s not something that was inherited or caused by anything we did—it’s just a rare event that happened by chance. Wild.
Due to Ariana's rare mutation, there is very limited data. However, our care team did say that it has been shown to act similarly to a different gene mutation that would put her in the High Risk category. Now, risk in this context is referring to a higher likelihood of chemotherapy resistance, relapse and just overall poor long-term outcomes. We aren't sure exactly which of these apply in Ariana's case since the research around her mutation is so limited, however, we are taking the most conservative route to ensure that Ariana has the best possible outcome.
With this high risk designation, it pretty much put us on the route to bone marrow transplant. This treatment is recommended for those like Ariana in the high risk bucket because during a bone marrow transplant all of her blood forming stem cells are destroyed to make room for the healthy transplant cells. This is done by more chemotherapy and sometimes radiation. As I'm writing this, we are still waiting on the specifics for Ariana's transplant plan. We do know that our best option is to have an allogenic bone marrow transplant that has the best probable outcome for a cure.
We have partnered with Earl Young's Team and the DKMS registry to host a virtual swab drive. We are asking all of our friends and family and all of their friends and family between the ages 18-55 to order a kit, swab at home AND, most importantly, send back their swab kit to be added to the donor registry. If you aren't able to be registered, please encourage a friend who is in your place!
Swabbing for Ariana's Match
Ariana is a loving, playful, and bright 19-month-old - her parents' wish on a star come true. In April, after becoming ill and not improving, she was taken to urgent care and then the ER, where she was diagnosed with Acute Myeloid Leukemia. Since starting chemotherapy, Ariana has spent only one week at home and has shown incredible strength - she is truly Star Strong.
Her best chance to survive-and one day explore the world, go to school, take dance and music lessons, and enjoy all the things children do-is to find a matching donor for a blood stem cell transplant. There is an urgent need for more people to join the donor registry. You could be the one who gives Ariana or another patient a second chance at life.
By signing up, you're not just joining a registry - you're providing HOPE while standing with Ariana and others like her in the fight of their lives. Help her and others stay Star Strong!
Please use the link below!
We are calling on you all to support Ariana and many others with these undeserved diseases to have a second chance at life! It is a selfless act, but without this treatment, we very well may not have as much time as we potentially do with our little girl. And we are just one family that is feeling the sting of this reality.
You have the power to save a life — maybe even be someone’s only hope. Join the bone marrow donor registry and give patients, like Ariana, battling blood cancers and other life-threatening diseases a second chance. As the video described, the registration process is easy. You get your kit, swab your cheek and mail it back! Simple! It takes just a few minutes to sign up, but it could mean a lifetime for someone else.
Here is a video breaking down the Bone Marrow Transplant process (Please do not use the Be the Match link at the end of the video it directs people to a different donor center that only registers those who are 18-40 year olds where DKMS opens this range to 55 years which means more potential donors to help others!):
Thank you for staying #StarStrong for Ariana.
