Bruno’s journey began in 2019. From his birth on October 11th, 2017 we already knew that something was happening but we didn’t have a final diagnosis until February 21st, 2019.

Even though the pregnancy was normal, when I was 37 weeks pregnant Bruno hadn’t turned yet. He was going to be born breech and my gynecologist convinced me to let them turn him around in my uterus to avoid a C-section. I agreed and when I was 40 weeks pregnant my labor was induced since Bruno’s heart wasn’t beating as well as doctors had hoped.

My labor was amazing and in only four hours I had my baby in my arms. I still cry when I think about that tiny beautiful face.

From there on things began to happen. Forty eight hours later we left the hospital without being able to get Bruno to breastfeed or take a bottle. He was fed 10 ml of formula with a syringe, and was diagnosed with hypotony cervical-axial and micrognathia.

From that moment on, everything has been agonizing. At only fifteen weeks he had a stomach protector and they changed his formula to a special milk without proteins from cow’s milk. It turned out he was lactose intolerant and he had almost got intestinal ulcers. Because of all of his stomach problems he wasn’t even gaining 50gr and we weren’t able to stabilize his weight in any way.

He spent every night crying and we cried with him. When we were able to correct his dose of medication from his stomach he started gaining weight. However, he was already 4 months behind in growth and we began to notice that he wasn’t doing many things that corresponded to his age as far as psychomotor movements. All of this, combined with an atrial septal defect ​in one of his many check-ups, sounded the alarm when he was only 6 months old. He already had a heart diagnosis, an appointment with the geneticist, check-ups with infant digestive specialists, and he had started with physical therapy and child psychology.

It all continued to develop and the operations started to become the new normal; heart surgery, tear duct opening, a possible knot if his esophagus. It was a nightmare that never ended and every time we went to the pediatrician it was something new.

Finally we received the feared but long awaited diagnosis; KAT6A syndrome. Although we thought that a diagnosis would give us encouragement, it was the total opposite. It erased all the hopes that we had that one day Bruno would lead a normal life. We forgot about all of the strides that he had made in the last 16 months and we thought that we would never be happy again.

At first the doctors only had bad news for us, saying that he would never be able to speak or walk because he had a severe handicap. However, little by little we have seen that with therapy and effort, great things can be achieved and we began to see the light again.

Bruno is currently going to physical therapy, a psychologist, speech therapy, and special therapeutic classes at the swimming pool and at the equestrian center with horses. He can walk and although he doesn’t speak he can make sounds and pronounce some syllables. He communicates in his own way despite his disabilities and above all, and most importantly, he is HAPPY.

On our journey we found the KAT6A Foundation on Facebook and through this group we have connected with other families in Spain. We also found the ‘Asociación KAT6A y Amigos’ which has helped us immeasurably to overcome every obstacle and has guided us to help Bruno progress as much as possible.

Thank you to all of you and to our medical team who have made something which once seemed so complicated, much easier for us now.

By Veronica

Spanish Translation:

Bruno comenzó su viaje en 2019. Desde su nacimiento el 11-10-2017, nosotros ya sabíamos que algo ocurría, pero no tuvimos un diagnóstico definitivo hasta el 21-02-2019.

Aunque el embarazo fue normal, cuando estaba de 37 semanas Bruno no se había dado la vuelta, venía de nalgas y mi ginecóloga me convenció para que les dejase darle la vuelta en el útero y evitar la cesárea. Me presté a ello y cuando cumplí las cuarenta semanas me provocaron el parto porque el corazón de Bruno no latía todo lo bien que ellos querían.

Tuve un parto buenísimo y en apenas cuatro horas tenía a mi pequeño en brazos. Aquella preciosa carita, aún se me saltan las lágrimas al pensarlo.

Y ahí empezó todo, 48 horas después salimos del hospital sin conseguir que bruno succionara el pecho ni el biberón, alimentándose de 10 ml desde una jeringuilla, y con un diagnóstico de hipotonía cérvico-axial y micrognatia.

A partir de ese momento ya todo fue un calvario, con apenas 15 días ya tomaba protector estomacal y le cambiaron a la leche especial sin proteína de leche de vaca porque era intolerante y casi había llegado a colitis ulcerosa. Debido a todos los problemas estomacales que tenía no cogía ni 50 gr con lo que no conseguíamos estabilizarlo de ninguna manera.

Se pasaba las noches llorando y nosotros llorando con él. Cuando conseguimos dar con la dosis de medicación adecuada para el estómago, empezó a ganar peso, pero ya llevaba 4 meses de retraso y empezamos a notar que había muchas cosas que por edad le correspondía hacer a nivel psicomotor y no las hacía. Eso unido a que el pediatra descubrió una CIA en una de sus múltiples revisiones, hizo que saltasen todas las alarmas y con sólo 6 meses ya tenía un diagnóstico cardiaco, una cita con genética, un control por digestivo infantil y había empezado en atención temprana con fisioterapeuta y psicólogo.

Todo siguió avanzando y las operaciones empezaron a sonar en nuestra cabeza, corazón, apertura del lacrimal, testículo en resorte, posible nudo esofágico; parecía una pesadilla que no acaba nunca, cada vez que íbamos al pediatra era una cosa nueva

Y llegó el temido pero a la vez esperado diagnóstico, Mutación en KAT6A, y aunque pensamos que un diagnóstico nos daría aliento, todo lo contrario, mató todas las esperanzas que teníamos de que algún día Bruno pudiera llevar una vida normal. Todos los avances que había hecho en los 16 meses que tenía se nos olvidaron, y pensamos que nunca más volveríamos a ser felices.

Al principio nos lo pusieron todo muy mal diciéndonos que no podría hablar que tenía una discapacidad muy grande y que no sabían si llegaría tampoco a caminar, pero poco a poco vimos que con terapias y con esfuerzo se podían conseguir grandes cosas y empezamos de nuevo a ver la luz.

Hoy por hoy, Bruno acude a fisioterapeuta, psicólogo, logopeda, terapia acuática y terapia ecuestre, ya camina sólo y, no habla, pero emite sonidos y dice alguna sílaba. Se relaciona y comunica a su manera a pesar de su discapacidad y, sobre todo, lo más importante, es FELIZ.

Por el camino nos encontramos con la Kat6A Fundation en Facebook y, a través de ellos, con el resto de familias que hay en España y con la Asociacion Kat6A y Amigos, que nos han ayudado lo indecible a

superar cada obstáculo, y nos han guiado para poder ayudar a que Bruno avance todo lo que sea posible.

Gracias a todos ellos y al equipo médico por hacernos fácil lo que al principio nos pareció tan complicado.

Veronica