Cognitive Age: 4
Therapies: Speech and language therapist and an emotional support worker
Parents: Tanya Nortje
Kabuki Symptoms: Facial features, Hypotonia, GI Disorders, Developmental Delay, Speech Delay and Social Anxiety
Zia and Tanya's Story:
I had the absolute honor of meeting Tanya and her sweet daughter, Zia-Louise, by video call in September of this year. We literally live on opposite sides of the planet: my family and I in the United States (New England) and these two beautiful souls in New Zealand. Tanya’s experience caring and advocating for Zia, illustrates the need for an increased awareness and understanding of rare genetic disorders that the medical profession as well as local communities need. Tanya’s perseverance, resilience, and trust in her maternal instincts are inspirational and a credit to her as well as to her own mother, who raised such a phenomenal young woman.
During Tanya’s pregnancy, her diabetes was becoming increasingly problematic, requiring an emergency c-section. Zia-Louise had to be resuscitated at birth but was able to make slow and steady progress; she was finally released from the Special Care Baby Unit (SCBU) when she was 12 days old.
All parents try their best to feed their newborns which can be a challenge, especially for an infant with Kabuki Syndrome who may have feeding and digestive challenges. Tanya did her best to help Zia, but at five weeks old Zia wasn’t within the right weight range. At six weeks, a nasal-gastric tube was placed but one month later, Zia had still gained only 100 grams (3 ounces). She had a gastrostomy tube placed at 1 year 3 months but she was able to be weaned off just a few months later.
Looking back at this time, it was apparent that the physicians did not understand that many of the health and developmental challenges Zia had were due to a genetic disorder. At one point, the pediatrician who had observed Zia’s dystonia diagnosed her with Cerebral Palsy but had not consulted with any other physicians nor did any testing to come to that conclusion. When Zia was still not gaining weight and was not meeting developmental milestones, instead of looking for ways to provide parent education to support Tanya’s parenting efforts or provide linkage to intervention services, the pediatrician blamed her failure to thrive on Tanya. In addition, when Zia was fussy, Tanya’s efforts to soothe her child by rocking her in a large sweeping motion while she was also bouncing with her knees was considered “shaking her baby”. Child Protective Services was then involved. For Tanya to be able to keep her child, they required her to be placed in a Mother and Child Mental Health Hospital with Zia, for four weeks. Although Tanya was not negligent or abusive and was not mistreating her daughter, nor did she have a mental disorder, the stigma of such a placement left her alone and an outcast in her community. Living in a small town can be considered quaint but in Tanya’s experience, when she needed the most amount of support, people distanced themselves.
Thankfully, parents with special-needs children, specifically Kabuki Syndrome, recognize it when they see it in other children. One day a woman asked Tanya if Zia had been tested. She explained her own daughter had a genetic disorder and began to describe some of the features, which Tanya began to recognize in Zia.
A little after that interaction, Zia was taken to the emergency room for a gastro-intestinal problem for which she was admitted to the hospital. During her stay in the hospital her pediatrician was present during medical rounds. Tanya asked if they could talk about Kabuki Syndrome. The pediatrician said he didn’t want to go down that road because he didn’t think she had Kabuki Syndrome. When Tanya pleaded to at least have her tested he said that he would think about it but did not respond for a few months. After waiting and not receiving a response from him, she decided to go up the chain of command and push for testing. It was then that she was referred to take Zia to a genetics clinic in Auckland, New Zealand.
It was at the genetics clinic where Tanya’s inquiry about Zia’s Kabuki features was clinically confirmed, but a formal diagnosis would not be made without genetic testing. After a difficult time drawing enough blood for a sample, the tests had to be sent to a lab in Finland that is able to identify rare diseases because New Zealand did not have labs with the capabilities to identify Kabuki Syndrome. The results came back negative. Unbeknownst to them at the time, Zia had a sub-mutation of the gene mutation that causes Kabuki Syndrome.
Even while waiting for the final test result, Tanya instinctively knew Kabuki Syndrome was Zia’s diagnosis since she met all the criteria. She had already been living with the assumption that Zia had Kabuki and had become more informed about the condition. Given the strong presentation of her features, the clinic in Auckland also continued to pursue answers for Zia and consulted with five other geneticists. This involved more blood tests and sending pictures of Zia to other specialists. And then there came an unusual request for Tanya to send a picture of herself when she was an infant, too. Even more unusual, was the revelation that Tanya also has Kabuki Syndrome.
Looking at Tanya, it is not easy to see that she has Kabuki Syndrome. She had the providence of being raised by an astute and loving mother who was also a special education teacher. Tanya had corrective surgery for her vision challenges when she was four and she also had surgery on her ears that were previously protruding. She is a highly capable and accomplished young woman. Today, Tanya is going to college for her Bachelors in Special Education. She works and drives a car; she is an attentive and loving mother; an she is a fierce advocate for her daughter.
Zia has made great strides. This last year, she weighed 33 pounds in January and reached 41 pounds by the fall. Although Zia is always happy she is not always talkative. She has shown some social anxiety and is more comfortable socializing with smaller groups of people, which makes attending class a little difficult for her. After Tanya advocated for her needs, and with help from the developmental clinic, she now has a teacher’s aide and an emotional support worker to help draw her out to interact with and not withdraw from larger groups.
Meeting Tanya and Zia was such a pleasure for both me and my son who wandered into the room while we video chatted. Tanya has a bubbly way of discussing even her most difficult experiences and Zia also has a sweet effervescent way about her that is contagious. There was joy in their interaction and so much love between them. Meeting them also left me puzzled and concerned about the impact an uninformed physician can have on a child and her family. A willingness to create a partnership with the parents and the ability to listen to them in order to seek answers through consultation with other professionals should be the norm. They were lucky to have met that mother who talked to Tanya about Kabuki Syndrome but it should have to be up to one’s luck to get answers. There needs to be an increased awareness in both the medical community and in society at large, that children born with rare diseases are not a result of bad parenting.
Zia's Favorites: She loves the Wiggles, watching the Australian cartoon, “Bluey”, babies, baths, swimming and going to parks. She wants to be a unicorn fairy. Her favorite toys are “Rainbow” and “Dutch”.
Advice for Kabuki families: “Let your child teach you their way of life. This is not a curse. There is no such thing as normal.”
Advice for parents of "typical" children: "They are amazing."
How Zia has impacted the family: “It’s given me a big challenge but I have now also been diagnosed with Kabuki.” Recognizing her own accomplishments, Tanya says, “I did it, I know she can, too- we can overcome a lot!”
Written by Stacy Limperis