Ambassador Stories
December 20, 2021

The Most Important Thing I’ve Learned Since My Daughter Was Diagnosed With Kabuki Syndrome

Featured imageLeila's daughter Roya faces the camera, lying on a white blanket with teal elephants.
Leila's daughter, Roya.
Life with Roya means our family has to just let go a little bit and be in the present.

After a typical pregnancy, Leila gave birth to her first child in 2016 and knew immediately something wasn’t right: Roya was limp, pale and fatigued. What was expected to be a short visit to the NICU turned into days, then weeks — Roya was only allowed to go home after about a month. It was about five months later that Roya was diagnosed with Kabuki syndrome, a rare genetic disease with symptoms that can include distinct facial features, low muscle tone, intellectual disability, heart problems and growth delay. While Leila’s first instinct was toward exhaustive research, she says that raising Roya has taught her to live in the moment, and to meet her daughter wherever she’s at.

I'd had a normal pregnancy, so it never crossed my mind that there was even a possibility that something might not be completely “normal.” But our experience with Kabuki syndrome started on February 3, 2016, when Roya, our first child, was born. It was a pretty difficult labor, and when she was finally born, she was limp and floppy. The doctors immediately said, "Well, it was probably an exhausting process for her going through the birth canal. So we'll just take her to the NICU unit, and we'll bring her back to your room in an hour or two."

We ended up being there for a little over a month. She basically had a blood sugar issue, where her blood sugar just kept falling and they couldn't quite understand why. Feeding difficulties combined with hyperinsulinism (producing too much insulin) was a dangerous combination, so she needed 24-hour monitoring and care. She was fed with a nasogastric tube that connected to her stomach through her nose. It was a very surreal first month, but we ended up finding a medication that kept her blood sugar levels more stable, so we were able to bring her home from the hospital, but still with her nasogastric tube. 

No first-time parent really knows what they're doing anyway, but certainly in this circumstance, we felt lost at sea. We needed two people for every feed — someone had to hold the tube up high and let it drip slowly into her stomach. Sometimes her stomach would get overfull and then she would throw it all up, or she would rip the tube out of her nose, and we'd have to rush back to the hospital to have another one put in. There were many difficult moments.

We also had to take Roya’s blood sugar readings many times a day at home. I never thought I'd be able to do a heel prick ever in my life. I'm very squeamish about blood, and the idea of taking blood from your own child is just something I never thought I'd be able to do, but you just do it. You get on with what needs to be done to keep your child safe.

My mother was so helpful in this regard. I remember her telling me that she could see that I felt so bad, “hurting” my own child by taking blood several times each day. But really I should view it as a gift I’m giving her — the gift of health, of safety, of care. I wasn’t outsourcing it, or turning my head away while someone else did it, I was the one caring for her. And in doing so, I was loving her. That reframing really helped me.

When Roya was about 6 months old, we had a chance meeting with a geneticist who suggested she might have Kabuki syndrome. There was an excruciating, several-week-long period where we had to wait to get the genetic testing results back. When we finally got her genetic results back, it was confirmed that she did have Kabuki syndrome. That was five years ago. At first, it was really, really hard. 

I'm a very Type A person, so my initial inclination was to say, "Okay, well, I'm going to learn everything there is to learn about this condition.” I think that was counterproductive in a sense, because there were so few cases that had been detailed in the medical literature. And because genetic sequencing hasn’t been as ubiquitous the last decade due to cost and access, the cases that had been diagnosed tended to be the more severe cases. That initial inclination eventually transitioned into just looking at Roya for who she is, and being with her wherever she was. Not comparing, or projecting, or forecasting — but just being with her.

I remember a counselor once telling me, "Wherever she is, you just need to walk alongside her. Don't walk behind her and push her forward, and don't walk in front of her with your hand pulling her along. Just walk next to her. That's what she needs." That was a really helpful thought for me, because it helped me see all of her amazing gifts, and all of the places where she struggles, and just see her for this whole human being that she is, and not see everything through the lens of Kabuki. It's a part of her, but it's not all of her. I'd be lying if I said we've fully conquered that, but it’s a process, and I’m on that journey. 

Now, we have two other beautiful little children, and I don't worry about them like I worry about Roya. But the reality is, I don't know how any of them are going to develop, or what's going to happen in any of our lives. I do think this experience has helped me, and helped us as a family, to just let go a little bit and be in the present. 

Parents are so overwhelmed in seeking out the best care for their kids. For AllStripes to say, "Hey, we’ll leverage your time, or make it more efficient, and we've really thought about the patient experience, and we'll amass everything in one central place” — that is a resource for you, for the parent, which is extraordinary in and of itself. And that also encourages people in the scientific and medical community to pay attention to your condition, because this information is amassed in a central place, so health professionals can do their jobs better too.  

Roya has been the greatest gift of my life.  She’s taught me so much about what it means to be human. And she’s taught me that together, we can overcome a great deal. We can learn from each other, grow together, and support one another. Together, we can do great things.

Disclosure: In addition to being an Ambassador for AllStripes’ Kabuki syndrome research program, Leila Zegna is an angel investor and has invested in many companies, including AllStripes.  

If you have been impacted by
Kabuki syndrome
learn more about the benefits of joining AllStripes
by visiting our
Kabuki syndrome
research program page.