He Kabuki syndrome It is a rare genetic disease that affects multiple systems in the body. It is characterized by rdistinctive facial features, developmental delay, short stature, and possible cardiac, immune, and skeletal problems. The name “Kabuki” comes from facial similarities to traditional Japanese theater makeup. Those affected usually have learning difficulties and various health complications. The main cause is a mutation in the KMT2D or KDM6A genes. Although there is no curetreatment seeks to improve quality of life through medical and therapeutic interventions.
In Spainit is estimated that there are approximately 65 people diagnosed with Kabuki syndrome, although it is likely that there are more cases because the disease is underdiagnosedsince many of its symptoms can go unnoticed or be confused with other conditions. This is explained by platforms such as the Spanish Association of Relatives and People Affected by Kabuki Syndrome (AEFA-Kabuki), which works to give visibility to this rare disease and offer support to affected families.
With the need to make your case known, each October 23 is celebrated on World Day of Kabuki syndrome. Alvaro Villaan Asturian living in Madrid for 12 years and an executive at the Pitma Group, shares his experience as a father of Anna 7-year-old girl who was born with Kabuki syndrome
When were you diagnosed with the disease?
One year after birth we were confirmed with the diagnosis of Kabuki syndrome. It was a relief to put a name to what we were facing, although it also meant accepting that the disease would be with us forever. From that moment we knew that we had to work intensely so that Ana could reach her maximum capabilities.
I understand that it caught them by surprise. What was explained to you about the syndrome? How was your first contact with this disease?
We had few initial explanations. Fortunately, today information is accessible and public, which allowed us to draw up a fairly clear plan on the aspects we had to work on. In the first year, before confirming the diagnosis, it was already evident that something was not right, and we did not want to waste a single day. We worked a lot with Ana and we got it right, because those moments are unrepeatable and very productive.
Later, I imagine they had to explain it several times to their family, friends and environment. How did they do it?
The best thing has been to follow the guide of the Kabuki Syndrome Association, which explains it in a very clear and didactic way. The syndrome involves various conditions, motor, cognitive and intellectual, and that is what we tried to explain to them so that they understood it.
Did they need time to internalize their new situation?
Yes of course. There is a period necessary to assimilate what we face and accept that it is forever. The sooner you accept it, the sooner you start to improve. During Ana’s first four years, we slept in shifts, seven days a week. It wasn’t easy at all.
​For Ana there are no shortcuts, her daily life is a continuous effort in all aspects
What was the most difficult at the beginning?
The first challenge was food. Ana was not able to suck or swallow. His diet was complicated and, in addition, he had to reach eight kilos to be able to undergo necessary operations. Every gram gained was a real odyssey.
What is Ana’s day to day like?
For Ana, everyday life is continuous work and stimulation. There are no shortcuts for her. The areas that for other children come innately, in your case, require daily and intense effort. Mobility, nutrition… everything is affected and requires constant training.
How does Kabuki syndrome affect Ana’s quality of life?
We try to ensure that your quality of life is affected as little as possible. For us, the daily approach is no different from what it would be like with a child without difficulties. However, in the long term, the situation is different.
What role does the family play in this situation?
I guess like in all of them. Everyone’s work has been very intense, especially my wife who had to leave her job, her life, to take care of Ana. It has been very gratifying to see the results that Ana is giving back to us, but for my wife they were/are years of full dedication. Absolute.
What do you expect for the next few years in Ana’s life?
We don’t have specific goals or expectations. We only know that Ana will reach the maximum of her abilities, but what exactly will they be? We don’t know, and we don’t want to set goals that could cause frustration.
What advice would you give to other parents facing this diagnosis?
I would tell them to work hard from the first moment. Physiotherapy, stimulation, everything is little. They should not wait for someone to encourage them to do it, but go out and seek all possible help.
Do you consider Kabuki a syndrome still unknown to the public?Personally, I had never heard of it before Ana was diagnosed. It is a poorly visible disease, although little by little progress is being made in its knowledge and in the dissemination of information.
Have you received support from AEFA-Kabuki?
Absolutely, the association is a fundamental bridge between the cave you suddenly enter and the light of the future for those affected and their families. The support, the help, not knowing that you are alone in the face of the challenge is priceless. There is no way to thank him.
