Alma Ballauz

What did it feel like finding out your child has Multiple Sulfates Deficiency (MSD)?

Alma had an almost normal growth until 12 months, in which crawled, spoke her first words, and even walked a few steps. When she was 15 months old, she still did not walk by her own means, and our concern as parents led us to consult with different specialists. Finally, at 18 months, she was diagnosed with MSD.

From the moment they told us that Alma had MSD we knew that our world would not be the same anymore. It was a day of absolute sadness, we could not believe what we were hearing or living. It is today that we still do not believe that our daughter has such a rare and devastating disease.

We started to investigate what the disease was about but in Google, there were only 15 results in Spanish that the only relevant thing was that it was a fatal disease and that there was no cure. From that moment we started to investigate in all possible languages and found the Irish Foundation MSD Action Foundation.

After informing us and understanding that the only alternative was to raise money to finance treatment, it was when we decided to take action and create the first MSD Foundation in Latin America (Fundacion CURE MSD). We are currently working together with the MSD Action Foundation and the United MSD Foundation to get treatment for the disease.

How has MSD affected your children?

MSD is a devastating disease. Alma has lost the ability to use her own means, losing all mobility and being currently in a special chair, without the ability to move on her own. She has also lost the ability to communicate and socialize.

She has mild respiratory problems, swallowing, and constipation problems.

How has MSD affected your entire family?

The MSD has changed our concept of family and friends. Everything revolves around Alma’s needs.

It has brought us many problems associated with the fatigue and stress of the whole family, since not only is it a disease without a cure, but it also has many medical visits and early stimulation, which generates very organized family logistics and a lot of daily work.

The family has been badly beaten and struggles day after day to give a blanket of normalcy to this whole nightmare.

What is the hardest part about being an MSD family?

The most difficult thing is uncertainty. The disease has taken away certainties and family planning. It is very difficult to get up with the ghost of death on our shoulders.

What are the biggest misconceptions people have about being an MSD parent?

The biggest mistake a father with a terminal illness can make is to surrender and blame someone for the ordeal that is going on. It is something that fate has put us on the road and we must be strong to help Alma to live in the best way.

Many times we are tired and we fight among ourselves, believing that the fault lies with one or the other for this or that reason. In a limited situation, we must make decisions and many times we are wrong. Nobody is prepared for this.

What is one thing you would tell people about MSD?

MSD is a tremendously devastating disease. Science has given us an opportunity on the way to be able to end it, as well as with other diseases of a genetic nature.

Gene therapy is a reality, being able to manipulate the DNA of people is possible. This disease does not have to continue to exist, it only depends on us to make it a reality.

What is one thing you would ask from the world?

All I ask is that Alma’s smile can be reflected in the eyes of the world for many years.

Why are you asking for donations to the foundation?

Genetic diseases account for almost 20% of diseases worldwide. Helping us is part of giving your bit to improve the world and extend the life expectancy of people, not only those suffering from MSD, but many other diseases could be saved with the treatment for MSD (Alzheimer, Parkinson, Krabbe, etc).

Your help will improve the world in which your children will live.

Latest News?

Alma is a fighter, as is her entire family. She will not give up and neither will we.

www.unacuraparaalma.org
Facebook: Fundación Cure MSD – Una Cura Para Alma