Family Stories - Diego





Family Stories of Myotubular Trust

Family Stories of Myotubular Trust

Family Stories of Myotubular Trust

Family Stories of Myotubular Trust

 

 

Diego is three and a half years old now, and was born in Spain. He was born very floppy, but without breathing problems. After 12 hours he needed to be ventilated, but only for 1 day. During the first 8 months nobody knew what was wrong with him. In this period he lived at home without any special care. When he caught a respiratory virus he had to be hospitalised and it was at this time when the Doctor from the intensive care decided to give him a muscle biopsy to find out a diagnosis. This has resulted in a diagnosis of Centronuclear Myopathy. We eventually left the hospital with a lot of new machines, BIPAP; pulsoximeter, etc, but we very quickly learnt how to use them to help Diego.

Until Diego was 2 years old, his days were rotated between care in the hospital and care at home, we spent 15 days at home and 15 day in the hospital and so on. But now he is much stronger and enjoys a good quality of life. He has to use a BIPAP but only for sleeping at night and to prevent night-time hypoventilation. He goes to school everyday and enjoy playing with his friends. The school even takes him to the swimming pool. He can walk, but wears a helmet to avoid any damage when he falls (which is very frequently).

Diego doesn’t go to a ‘special’ school but to a mainstream school, where he has full time carers who try to involve him in everything and treat him just the same as the other children, so that he doesn’t feel any different. At first, we felt a little worried about him starting school, but he loves it so much and they take very good care of him which we are so pleased about.

Diego's Story in Spanish:

Diego es un niño español de tres años y medio. Nació con una hipotonía aguda pero sin problemas respiratorios. Sin embargo requirió de ventilación respiratoria a las 12 horas de vida, aunque sólo durante un día. Durante los 8 primeros meses fue imposible diagnosticar su enfermedad. Vivió en casa sin ningún tratamiento especial hasta que tuvo que ser internado por un virus respiratorio con graves complicaciones que provocaron su ingreso en la Unidad de Cuidados Intensivos. Fue entonces, cuando se le realizó una biopsia muscular, en la que se le diagnosticó una Miopatía Centronuclear. Tras su recuperación, abandonamos el hospital, acompañados de diversos aparatos médicos (BIPAP, pulsómetro, saturómetro) con los que, en seguida, nos familiarizamos y manejamos sin ningún problema.

Hasta cumplir los dos años, alternábamos, prácticamente, 15 días en el hospital y 15 en casa, pero se ha ido fortaleciendo y, actualmente, mantiene una buena calidad de vida. Solamente necesita la utilización de la BIPAP cuando duerme, tanto en la siesta, como, sobre todo, por la noche.

Va al colegio todos los días y disfruta jugando con sus amigos, incluso, dentro de las actividades escolares, va a la piscina a aprender a nadar.

Puede andar con normalidad, pero le ponemos un casco de bicicleta para evitar los daños producidos por las frecuentes caídas.

No va a ningún colegio especial, el personal del colegio le cuida muy bien y le trata como al resto de los alumnos. Diego va feliz al colegio, hasta el punto de que cuando está enfermo, se pone triste y nos pide que le llevemos.