Luis’ story
Luis is diagnosed with Nascimento X-linked intellectual disability. Now his family is doing all they can to raise awareness and build a community for others. This is their story.
In 2018 we returned home from a long journey and Luis was tired so we put him on his play mat. Within a matter of moments he scared us in a way like never before, he looked so still and motionless that there was only one thought going through our heads, we feared the worst. He was rushed to the hospital where he was diagnosed at the time with a febrile seizure. With that, we returned home. These seizures started to become more regular and we were given some medication to reduce them. However we weren’t convinced that it was working so we were reluctant to continue giving it to him if we had no clear understanding of his condition. We asked the doctor to take him off the medication, to which they were hesitant and asked us to take a genetic test first.
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Stats about Luis
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2
forms of medicine taken twice daily for his epilepsy
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2
surgeries related to his diagnosis so far
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Many
trips every year for appointments
It took some time to come back and during that time the seizures were still happening and there was some suggestion that Luis could have Dravet syndrome. However, when the diagnosis finally arrived they confirmed Luis has a rare genetic disorder known as Nascimento X-linked intellectual disability. This affects, as the name suggests, his intellectual ability. He has epilepsy, he has no awareness of danger and must be supervised constantly. He is non verbal and can point to some things he wants but is mostly frustrated when not understood. Luis has short sleep and can be up most of the night, is prone to falling and still uses a pushchair or his wheelchair for longer journeys. He can only sometimes manage short distances around the house or in the garden. Luis enjoys sensory things like vibrations, or even knocking his chin with his hand.
Luis has a family who really care for him. It is very challenging and sometimes his illness dictates our day and activities, but we have been getting better at finding the right balance so that his siblings are also getting the right attention. Luis is currently attending a SEND school that helps him and he enjoys getting on his bus every morning. We started a blog for Luis on his condition but also with the aim of building a community around it and helping others along the way.
You can find the blog online via, luisspace.com.