Tanner's Story: 

“Tanner was born full term via emergency C-section after movements became undetectable to me. He was whisked away to the NICU for low blood sugar, and was very unstable for a few days with liver, lung, and heart complications. They told us there was a chance he wouldn’t make it. I had hand-foot-mouth at the time, so all the complications were attributed to the virus. Other than the first 10 or so minutes after birth, I didn’t get to see Tanner until 2 days later due to the virus (our pre-Covid quarantine training).

 

Travis, my husband, spent these days bouncing back and forth between Tanner and me while the lovely NICU nurses set up a private camera for us to view Tanner in real time (our pre-Covid Zoom training). The day I was discharged, we finally got to hold our baby, who was still filled with tubes. After 5 days, Tanner was stable, but he didn’t eat well enough to come home. At two weeks old, we were fortunate to bring Tanner home with no tubes attached and no idea why he struggled so much at birth.

 

We received great advice from a friend of a family member with NICU experience: “Say yes to everything they offer you.’ When the health services department offered a home health nurse visit, we said yes. After an assessment and initial visits, we said yes to Early Intervention and Tanner started infant stimulation therapy at 3 months old. Milestones became more and more delayed, therapies were added, and it was clear that Tanner had a tougher road than other babies we knew.

 

We saw a neurologist regularly and eventually he gave a diagnosis of hypotonic cerebral palsy (CP), though an MRI didn’t show the common patterns on his brain. The neurologist wasn’t fully convinced of CP and referred us for genetic testing. In the meantime, we got a diagnosis of spastic CP from an orthopedist who helped us apply to CCS for his therapies. We received uneventful results from the initial genetic testing 

(chromosomal microarray and fragile X), but the geneticist wanted to test the whole exome. Insurance denied the test, and I began to research the appeal process. During this time, I scheduled a vacation from work to take Tanner to several specialists to check on various issues (heart murmur, GI issues, neurology, orthopedist check up, etc.), and my employer of 12 years decided that was a good time to terminate my position (which also terminated Tanner’s health insurance as they also refused to provide COBRA information).

 

We were fortunate to be able to afford healthcare through the marketplace and signed on with Kaiser, and I was fortunate to receive a job offer from a previous client, just two business days later. I disclosed Tanner’s health issues, and they still insisted that I join the team in a permanent remote capacity. Kaiser was quick to initiate genetic exome testing, and we were told that our odds of a positive result were very low based on clinical observation. After months, I contacted them about why we weren’t notified yet, and they said we’d need to set an appointment. That’s when we knew something genetic was going on. On June 22, 2021, Tanner finally had a confirmed diagnosis of Kabuki syndrome.

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What impact has having a child with Kabuki had on your family? How has being a Kabuki parent changed you?

“It’s been a roller coaster! First there was a lot of guilt when we thought it was Cerebral Palsy. ‘Why didn’t I go to the ER earlier or learn about various treatments to request that could have helped, etc.’.  Then once we got the Kabuki Syndrome diagnosis, there was a bit of (illogical) relief that I didn’t “cause” his struggles. I’m not totally through the mourning process yet, but I like to stay hopeful that Tanner will have a great life in his own special way. We feel lucky to have him in our home and capable of tackling the challenges as a team. We usually work together and have learned that we have more patience than we ever imagined. We’re still easing into what Kabuki means for Tanner and are slowly working towards milestones.

 

The diagnosis didn’t change much in our day-to-day lives, including the six days a week of therapies. What the diagnosis did do for us, was alleviate the senseless guilt of “causing” what we thought was cerebral palsy. The diagnosis gave us a reference point when speaking with doctors, specialists, and educational personnel about Tanner’s unique needs and requirements. Lastly, the diagnosis led us to a community of Kabuki families and connected, even normalized our chaotic daily lives. We share joy in other families’ milestones and share the sorrow in the incredible losses. We still grieve the child we envisioned, but that person was never real, anyways. The boy who laughs and dances constantly, has the purest optimism that no danger exists in this world, who communicates with squeals, an iPad, and by throwing toys in frustration, and who works his tail off in therapy; that’s the child who fills our home with love… and sometimes frustration… but always plenty of love. That boy is Tanner."

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Do you have a support network of family and friends?

“Travis is a rock. We are both pretty intense about supporting Tanner’s development. Gigi, Travis’ mother, and my mother Gaga, are both integral in his caretaking.  We aren’t always graceful throughout the journey, but we’ve hit a good stride lately and insist on making it work. At this point, we both work full time. I am attending online university classes as well. We’re very lucky to have our social support network."

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