Age: 15 months
Cognitive Age: 7 months
Therapies: Physical, Occupational, Vision and Speech Therapies
Siblings: Jack (4)
Parents: Olivia and Jesse Ruzic
Kabuki Symptoms: Swallowing difficulties (Primarily g-tube fed but making progress with solids), Global Developmental Delay, Hypotonia, Hypothyroidism, Infantile Spasms (IS), Epilepsy, Recurring Coarctation of the Aorta (recurred twice after surgical intervention), Stent in his heart, Cortical Visual Impairment (CVI), Immunodeficiency, Thalamic Stroke at 5 months old (may or may not be KK related)
Archer's Story: When Olivia was 5 months pregnant, she and Jesse decided they would name their sweet boy, Archer. Jesse wanted to call him Arch, because he loves the architectural meaning behind the gothic arch. It was designed to point up to God in a unique way.
In her eighth month of pregnancy, Olivia developed a rare skin condition which could not be diagnosed. During their first ultrasound, the doctor had found Archer's head measured a little small but by the next ultrasound, it was determined that he was healthy. No additional scans were needed.
Olivia was induced a week early due to the concern about Archer’s small measurement. After a quick, uneventful labor, he was unexpectedly whisked away to the NICU because he could not breathe on his own. At two days old, the doctors discovered his diaphragm was in the wrong place. The following day, he was diagnosed with a Coarctation of the Aorta, VSD. Arch was transported by ambulance to another children's hospital where he had an "Arch reconstruction" at 5 days old. When the surgeon sketched out his aortic arch, Jesse and Olivia were shocked to see the anatomy of his heart resembled that of a tiny gothic arch. “This gave us comfort that even though we were shocked, scared and angry; God was still with us and had a plan for Archer.”
As a result of being born with a heart defect (and multiple other organ abnormalities) genetic testing was conducted. The results came back normal.
The next few months brought more concerns. After his initial surgery and release from the hospital, Archer's coarctation recurred twice. He had an angioplasty at 3 months old and a stent placement at 4 months old. He was still having serious feeding issues with his NG tube; the medical team suggested that Olivia and Jesse schedule a g-tube surgery. After researching and consulting with their OT team, Olivia and Jesse agreed to the g-tube placement. Immediately after his surgery, Archer stopped responding to voices, looking at his parents, babbling and all other physical milestones he'd achieved pre-surgery. It all disappeared.
Finally, after three days of advocating for their son to be evaluated, a CT scan revealed he had a serious thalamic stroke (massive brain bleed in his thalamus). Olivia was told by the medical team that all they could do was hope that the bleeding would clot on its own. She was alone, without support, while her husband had to be at home taking care of Jack, when Archer was diagnosed with the hemorrhagic stroke because of Covid restrictions which allowed only one person to stay with Archer at a time. After dealing with that trauma Olivia decided she was no longer comfortable advocating alone in the hospital.
Thankfully, after Archer’s stroke they decided to move to a better hospital system and get a fresh start. They were able to move from Michigan to Indiana in order to be closer to Olivia’s parents. She says that “they have both been our rock over this crazy last year”. Ultimately, this move got Archer into a better medical system. It was decided that Jesse would become a full-time medical caregiver and stay-at-home dad to their boys due to his amazing ability to navigate the medical system and juggle all of Archer’s appointments and therapies amidst the Covid pandemic. Olivia went back to work at an amazing church in the area as a kid’s minister. They moved in with Olivia’s parents for 5 weeks due to how difficult the injections/ treatments were and how severely they would compromise Archer’s immunity in the middle of the Covid-19 pandemic. Her parents helped with Jack, their older son and helped them care for Archer while she worked from home. “We have an incredible support system of friends and family plus people praying for us from all over the world. ATK and Kabuki support groups have also brought us great comfort and solidarity.”
A few weeks after their move, the Ruzics received answers to the underlying question, amidst more complication when Archer was diagnosed with Infantile Spasms (IS), a serious regressive seizure disorder. In the middle of his treatment for IS, Olivia and Jesse received a call from Riley genetics, who informed them that further genetic testing confirmed Archer had Kabuki Syndrome. In addition, he was diagnosed with a variation in his RYR1 gene, inherited from both parents. It expresses itself as a core muscle disease, which explains why at 14 months old he can't sit up unassisted, crawl or stand. Olivia recalls that “it was a relief to finally understand the core reason why Archer's body had so many severe issues. But it was also a heart-breaking reality to realize that his medical struggles will be lifelong.” Since then, Archer has been diagnosed with a new form of Epilepsy, has frontal temporal seizures for which they are still trying to find the best treatment. He has also been diagnosed with CVI (Cortical Visual Impairment) which stems from his complex neurological history. Thankfully, since his initial genetic diagnoses, he's in remission from Infantile Spasms and his happy personality, skills and abilities are slowly returning with therapies and making incredible progress.
Archer’s Favorites: "Archer loves the color yellow (yellow and red are the easiest colors for him to see due to his CVI), laughing/being tickled, the book Madeline by Ludwig Bemelmans and rolling around our living-room as fast as he can."
Archer's relationship with Jack: "Jack adores his little brother. He actively attempts to teach him all he can about dinosaurs and cheers him on, every day."
Advice for Kabuki families: "Stay in the moment as much as you can. Although it's important to process past medical trauma and disappointment over how things ‘should have been’, the past can be crippling if it's not handled with care. It's equally important to advocate and be proactive but googling all the ‘what ifs’ and assuming the worst about the future can rob you of the little victories and joys you experienced with your KK today."
Advice for parents of "typical" children: "We're not inspirational or ‘special’ parents. We're doing the same thing you do every day... trying to keep our kid alive, growing and happy. It's just more complicated for us in some ways.
How Archer has impacted the family: "Arch has radically changed our lives; becoming a Kabuki Syndrome parent has been one of the most exhausting, stretching transitions our family has ever experienced but we wouldn't trade him for all the stars in the sky.” Like most Kabuki families, they are constantly in and out of the hospital. Olivia says that “Archer seems to get a new diagnosis every other week; however, he has taught us so much about resilient joy. Not only is his joy resilient after all the medical obstacles he's faced but he's taught us to savor the ‘simple’ every day joys that other families might not: his first bites of birthday cake, a walk in the park, hanging out in our living-room rather than being separated at the hospital... every moment feels sacred and special. We don't take any second of time with him for granted."
Written by Stacy Limperis