top of page
Azul Rojo Colorido Zigzag Estampado Encabezado de Twitter.png

who are we

FUNDACIÓN LUKISS

logo png completo.png

about me

Hello everyone!

 

My name is Lucas, I was born in Madrid, I am 11 years old, and I live with a mutation in the STXBP1 gene.

 

To many of you, it may sound strange, but if you don't mind, let me tell you a little more about myself and about the mutation in this gene.

 

I was born on June 26, 2012 (a year that, by the way, for those of you who are soccer fans, Spain won its third Eurocup) at the Quirón Salud San José Hospital in Madrid.

 

Initially, everything was fine when I was born, and there were no problems. However, at three days old, when my mom and I were about to be discharged to finally go home, a cardiologist conducted a final examination and urgently referred us to La Paz Hospital. My little heart wasn't functioning well, and they had to operate on me urgently.

 

It seems like a tough start, doesn't it? Three days old and already facing challenges! Well, I don't want to give you spoilers, but brace yourselves because this is just the beginning of my journey.

The reason for this issue was that I was born with a narrower-than-normal aorta. This led to a heart operation at 12 days old. Luckily, the doctors managed to fix my aortic coarctation (first game won).

 

From there, my parents and my whole family started noticing that I did things more slowly than normal. I have to admit that I always had a special difficulty in clapping, didn't repeat phonemes, didn't crawl, couldn't sit up... I also didn't cry because during the operation, one of my vocal cords got damaged, and I became totally hoarse (although I believe it's because I've always been very strong and don't cry easily).

 

Given my parents' concerns, I went through many phases with various healthcare professionals and physicians. There have been many specialists who treated us remarkably well and wanted to progress with us and help me, but there have also been quite tough times, I won't deceive you. I remember once a neurologist specializing in motor skills, who, in the desperation of my parents to know what was happening to me, told them I was mentally retarded. Can you imagine if that happened to you? I'm not mentally retarded; it's just that life has thrown many games at me to win! And I assure you I'll win them all!!

 

But well, the truth is that the situation was unacceptable, especially when all my parents wanted was to know what was happening to their three-year-old son...

You won't believe it, but it wasn't until I turned 10 that I was diagnosed with STXBP1 syndrome. You can imagine the frustration for my parents, family, and friends, having spent 10 years circling around a problem that no one could name.

 

I can assure you that everything I've told you, as you can imagine, is a summary of almost 12 years of difficulties and constant struggle. But before telling you about STXBP1 syndrome, let me tell you about myself!

 

As I mentioned before, I'll turn 12 in June (if you want to give me an early present, a soccer ball would surely be spot on).

 

I am a child who barely speaks, quite hyperactive (those who know me already know I never stay still) I have autistic traits, motor problems, a significantly adapted curriculum at my school, and endless challenges to face every day. I am also passionate about music, tennis, soccer, spending a lot of time playing with my family and friends, and anything I become obsessed with for a while!

 

Despite all the problems I've had and still have, I am a very happy child! My family always says that I am an example to follow because it is true that I am always happy, laughing, and wanting to play.

Speaking of sisters... I have to tell you about them! I have two younger sisters (yes, I am the oldest, but they don't listen to me when I give them orders; I lack authority with them...), and their names are María and Julieta. You can't imagine how much they love and take care of me, and that is something to be grateful for. For example, on Three Wise Kings' Day, I was not satisfied with just opening my gifts, I also wanted to open and take theirs! You could imagine their annoyance... but well, I know they love me the same (or even more).

 

I could spend the whole day telling you about my family, but since I am the main charater of this "movie," I'll continue because I think there's something very important I haven't told you... I'm a huge fan of Real Madrid!! There may be many of you who are disappointed at this point, but don't worry, do you know what's beautiful about facing difficulties in life but still being happy? That I celebrate even the goals of Atletico Madrid and Barcelona if necessary! Well, or "golasos," as I say

WhatsApp Image 2024-02-19 at 18.51.11.jpeg
logo.png
real-madrid-club-de-futbol.png

I am a child who challenges paying attention or focusing on something, but when something motivates me, like soccer, I am the kindest and calmest child that exists! Ninety minutes of a match shouting "golaso," Bellingham, Benzema. Sometimes I even do Cristiano's "siiiiiu" and I ask for Marcelo because I miss them. And as I said, if a goal is scored against Madrid, I also shout "golaso" and continue to be happy!

 

Well, I'm going to stop talking about myself now; I'm sure you can see on Instagram everything my mom and dad have documented about what I do (and the troubles I cause sometimes). Now it's time to talk about something serious, which is one of the reasons why my parents have decided that, if three non-stop kids weren't enough, they now wanted to see the birth of the LUKISS FOUNDATION!

why FUNDACIÓN LUKISS?

Why was the Lukiss Foundation created, you might ask? Although many of you will think that it is only because my park is named after me, Fundación Lukis was born as a result of the joy, hope and anger of my parents when they found out that I had STXEP1 syndrome, given that 10 years later they had finally reached a diagnosis.

 

What a bummer! But well, now you understand why this is about winning games. My parents have been helping me win games for many years, and now they wanted to win another one, so they created the Lukiss Foundation, an organization of active and empathetic people that aims to help and do many things, including:

  • Accelerating access for children with rare diseases like me to new therapies.

  • Providing accurate diagnoses and comprehensive solutions to these diagnoses (medical, educational, family-related...) that are precise and early to improve the effectiveness of the therapies used.

  • Assisting families in a similar situation who may need any type of support.

More INFO

In case you didn't know, in Spain, more than 3 million people are diagnosed with a rare disease, and there is no plan for them, even though they already represent more than 6% of the Spanish population.

 

And despite all the cases still undiagnosed or wrongly diagnosed, this figure is increasing. Spain has the obligation to investigate (even if it's very football-oriented, this is more important than winning the Eurocup or a World Cup!).

In my specific case, STXBP1 syndrome is a rare genetic disorder that affects neurological development. It results from mutations in the STXBP1 gene, crucial for brain function. People with this syndrome experience cognitive disabilities, delays in motor and speech development, as well as sleep disorders. Each case is unique, presenting a variable range of symptoms. Although it is a challenge, research and ongoing support seek to improve the quality of life for those living with this syndrome.

 

This is a disease that, according to geneticists, should not be very difficult to cure. The problem is that there is hardly any research done here.

 

And yet, we are privileged! I encourage you to visit the Spanish Association of STXBP1 Syndrome to better understand what this mutation consists of and the different levels of impact we have.

People with this genetic mutation require a lot of medical and educational attention, which often becomes a significant burden for families. This frequently leads us to seek private education and healthcare. We need this to change, and we ask the government to support all families with children facing rare diseases.

 

That's why we ask you to contribute by reaching out to us through our Instagram profile @fundacionlukiss or via email at info@fundacionlukiss.com, or by providing any help you can think of.

 

Thank you very much for listening and for your assistance!

bottom of page