Domas did not know the word SSADH when his first child was born. Many years later, that is not that brief, briefly imagined Defective desinico dehydrogenaseHe will become the center of his family life. This disease that affects the neurotransmitters of the nervous system and changes the development of the cognitive, motor and communications, is very unusual, nothing 600 or 700 cases have been registered worldwide.

Your two children, Alejantro, 25, and Nicholas, 18This pathology has been diagnosed for them. Although with significant differences, the two have disability and dependence. Alejantro is very affected: he has severe autism, foot -epilepsy crises and difficulties in understanding. Nicholas, with high activity, presents the delays and language problems, and now, now, it does not create a leg pain.

“My children are off -off on how bad we are”

“My children are blessed how bad we are,” says the combination of Domas realism and gratitude. Because, in spite of the limits, They can walk, express themselves and maintain some procedures. This distinguishes them from many patients with the same disease that cannot speak, eat or walk alone.

The way to name what happened to them is not easy. It took seven years to get a diagnosis with Alejantro. “I didn’t speak. It rarely moved. It was a lot of laughter, but we saw that we did not connect … no one knew what was going on,” he recalled. They crossed the early care, brain vibrations, genetic tests and experts from the entire community of Madrid. A neurologist from Severo Ochova Hospital in Leganes, moved to Amsterdam, one of the European centers that moved by an extraordinary suspicion and heard the urine analysis and analyzed these diseases. Confirmation came there: ssadh.

Already with the diagnosis of hand, when Nicholas came to the world, they knew what to look for. In six months, a new test confirmed that he was the carrier of the disease. “I and my wife are carriers. We have had a healthy kids separately, but together … we were hungry with the desire to eat together”Briefly with contradiction.

“You don’t know what it was, or why it happened to you”

The news fell like a slab. “You don’t know what it is, or why it happens to you. No one is preparing you for that. No one tells you: ‘It comes, ready.’ The first years were very hard. Without tips, without support, without experts. Only confusion. For a long time they have not found reliable information. “Not in the internet or in hospitals. You heard and no one knows how to say anything. It will be disaster. ”

Thanks to the contact with Feder (the Spanish Federation of Rare Diseases), everything has changed when they discovered that they are not alone. “There were three other families in Spain with children with the same disease. We were in contact. It was a great relief. Finally someone knew what we were talking about.” From there he was born NewA association About 25 families with disease -related diseases. Only six live with SSADH. But its strength is beyond numbers.

Since then, Sangamism has become a pillar to establish. They have formed a small scientific group from Madrid, Barcelona, ​​Cordoba or Seville, and have begun to cooperate with international centers such as the Sand John de Du Hospital. They are also aware of the plans in Korea or Germany, which are investigating new treatments, and they donate how much they collect confidential studies if they can. “If we are a association, they can continue to investigate. Otherwise … we all disappear from the map”Regret.

The lack of trial is not the only stone in the way. At the administrative level, the fight is stable. Alejantro has recognized 65% disability, but that amount was set before the epilepsy crises. Nicholas, despite its cognitive and communication difficulties, remains only 37%. “Neither his teachers acknowledged. This is an unreasonable assessment, which does not take its daily to its daily“The amount of dependence was reduced without a clear justification.” What I hear is that the ratings are what we do: people, not by table boxes. “

From 18, the situation worsens. “You disappear from the computer. There are no reviews, or not following. It costs us a lot to return to the fold. “Infection made that abandonment worse.” We know anything about our doctors for two years. Returning was like starting new. ”

In education, the tour is unequal. Alejantro went to public, integrated schools and finally went through special education until the age of 21. Now go to a professional center. On the other hand, Nicholas is on the normal network, with support and adaptations. At this time He reads the training program embraced by Salvador Tale Legonus. “He is doing practices. Next year he will make a fatigue and business course. This is something that encourages him.”

As Thomas admits, daily routine, “This is serious”. Every morning they distribute the tasks: Niko AL Institute, to Alejantro Center, Parents for Family Trade. It is time to reorganize in the afternoon. “It’s like any family, but with the most needed logistics.”

Throughout the process, they have received specific support, especially from individual experts. “An angel that helped us at the beginning”Remember. But at a structure level, “administration does not live.” Private treatments, travel, genetic studies … are all operating from their account. “And many more families cannot accept those expenses. What about them?”

“The first thing is to accept the plot. Then, seek support”

Before finishing, Domas begins a message for those who face this type for the first time: “The first thing is to accept the blow, and then seek support. Do not stay at home crying. Get to know other families and share the way you liveThis is the only way to advance. Loneliness is not guided anywhere. ”

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