Cura MSD – the story of a sibling from Spain


Soy Jan Ballbè Perés y en casa vivimos mi madre, su marido, los dos hijos de su marido, los tres que somos hijos de mi madre y la Ivet la niña que tuvieron mi madre y su marido.
Recuerdo perfectamente el dia de reyes de hace unos cuatro años donde mi madre y su marido entre los regalos havia un chupete, cuando toco abrir ese todos nos quedamos parados, porque nosotros nos hacia falta un chpete? Pero rápidamente descubrimos que se trataba de que mi madre estaba preñada.
Nos hizo muchísima ilusión ya que al ser grandes sería nuestra hermana pequeña que la queríamos como si fuera nuestra hija.
Ella nació en agosto y empezo sin ningún problema alguno, si que al nacer pesaba poco y tubo que estar unos días al hospital pero después vino a casa y estábamos perfectamente hasta que vimos que ella no iba tan rápida como los de su edad y que siempre iba atrasada, lo miramos y no pareció nada grave hasta que un dia en una de las analíticas rutinarias le detectaron algo extraño, se examinó a fondo y resulto que tenia MSD una grabe enfermedad donde los niños no se supera la etapa infantil normalmente. Es una enfermedad muy minoritaria hasta el punto que solo hay 70 casos en todo el mundo.
Cuando lo supimos mi madre y su marido empezaron a buscar información, a contactar con gente que también la sufrían y se llevaron una gran decepción ya que vimos las causas de la enfermedad. En este momento en casa habían mas lágrimas que sonrisas en nuestra familia cosa que no habíamos visto antes.
A parti de allí nos dimos cuenta de que junto con otras familias luchaban por una cura y al año creamos una fundación con la fin de tener dinero para las investigaciones y poder crear un tratamiento para nuestra hermana.
Ahora buscamos ayuda principalmente económica aún que también buscamos que se sepa lo que puede pasar al tener un hijo y intentemos evitar que no pase a mucha más gente.
Así que si quereis ayudarnos nos ayudaria mucho que compartais lo que vamos publicando en las redes como Facebook, Twitter y Instagram con el nombre de “curamsd” i en la web “curaMSD.org

 

Translation to English:

I’m Jan Ballbè Perés, and I live with my mother, her husband, her husband’s two children, the three of us who are my mother’s children and Ivet, the girl my mother and her husband had.
I perfectly remember El Dia De Reyes about four years ago when my mother and her husband gave us a pacifier. When I opened it, we all stood, why would we need a pacifier? But we quickly discovered that it was because my mother was pregnant.
We were very excited because we were going to have a little sister. We would love her as if she were our daughter.
She was born in August and started without any problems, except at birth she weighed little and had to stay at the hospital for a few days. She came home, and we were fine until we saw that she was not developing as fast as others her age. We looked at her, and these issues did not seem serious until one day in one of the routine tests, the doctors detected something strange. It turned out that she had MSD, an illness where children do not usually pass the infant stage. It is a very rare disease to the point that there are only 70 cases worldwide.
When we found out, my mother and her husband began to look for information. They contacted people who were also suffering from it, and they were very disappointed seeing the causes of the disease. At this time in our home, there were more tears than smiles.
From there we realized that together, with other families, we had to fight for a cure. A year later we created a foundation to raise money for research to find a treatment for our sister.
Now we look for mainly economic help, although we also want to make sure that what happened to our family does not happen to any others.
If you want to help us, share what we publish on networks like Facebook, Twitter and Instagram with the name “curamsd” and on the website “curaMSD.org“.


Photo Hunt Giveaway

The B.L.A.I.R. Connection Photo Hunt is a chance for siblings to reminisce on memories with their brother or sister. Each week in September, I will be posting photos of siblings doing different activities. If you’re the sibling of someone with a terminal illness, submit a photo each week based on… Read More

Image for The Scariest Night: My Perspective at Age 9

The Scariest Night: My Perspective at Age 9

Have you ever had a scary event in your life, but it ended up making you feel more confident? One summer night, my mom and I did. That night, I was lying in my bed as quiet as a mouse. Blair was in her room, my mom was downstairs, and my dad was out of town (three hours away). I would never guess that this crazy night would change my life, forever. Read More

Have a story to share?