Hello, I am Leon.
I am two years old and live in Waidring, Austria. In June 2018 I got diagnosed with the very rare Syngap Syndrome, which is considered incurable.
But my parents want to make the impossible possible: Finding a successful treatment and giving me a chance for a normal life. But the need your help!
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Dear friends, family and kind-hearted people!
Welcome to our fundraising research project “LEON AND FRIENDS”! On behalf of Leon, we dream of accomplishing the impossible: to find a cure for a currently incurable genetic disorder! The Department of Child and Adolescent Pediatrics of the AKH in Vienna would launch the research project with us. Therefore we are hoping to raise an enormous sum, an amount we could never fund ourselves.
Donations are possible via bank transfer or our leetchi.com donation campaign. All contributions are secure with bank transfer, VISA, Mastercard or Giropay. Why Leetchi? Because it is clear, transparent and fast.
We thank you for your support!
Sandra, Flo, Leon, und Marie
Leon and Friends – In a Nutshell
What is it all about? It is about a very precious little human being and all his concerned friends. What do we want to accomplish? The impossible. To find a cure for an incurable disorder. How? With your support.
Our project is a matter truly dear to our hearts because our little sweetheart Leon, who is turning two years of age in the coming days, is affected by a rare genetic disorder. He is the youngest known case worldwide. The medical society estimates the number of cases at around 200 worldwide. The actual figures are suspected to be much higher. Leon has been diagnosed with the Syngap Syndrom.
Why might the actual number be so much bigger? The genetic testing to diagnose this disorder is still very new within the medical society. It is actually so new that even most doctors have never heard about these diagnostic methods. Using this method, the whole genetics of the patient are being decoded and compared with the genetics of a healthy individual. The genetic decoding is extremely work intensive and we had to wait four months to receive the results.
The symptoms of the disorder
Severe mental impairment, Epilepsy, Autism, Severe sleep impairment, Muscular hypertonia (limb muscles), Resulting in motoric problems, impaired speech development, impaired digestion and eating, learning disabilities
Perhaps you are affected by these symptoms as well or know of somebody whose children show similar symptoms but were never able to be diagnosed. In either case, we want to pass along helpful advice.
Many things lend support. Positive thoughts and prayers. Donations or supportive social networks. Spread the word, tell your friends and acquaintances about it, post it like a champion. Every little effort helps us to raise the awareness about this disorder. Maybe you know self-employed entrepreneurs who are willing to donate material goods which we would raffle off to those who so kindly volunteer in support of our effort. With monetary donations, every euro counts. Something big will grow out of all these many small things.
Detailed information, our story and experiences
Our goals and what has to be organised:
You can help in a variety of ways. We want to collect and raise money to launch a new research project. Leon’s disorder is so rare, that at the moment there is almost no research that is being performed. We want to change this and find a cure for this disorder. Currently we are forming an association which we would like to grow into a foundation eventually. This should give us the ability to be sustainable for a very long time in order to keep the project alive. It will most likely run into the millions and might take years to get there. As an established foundation, a lot more public support from governmental resources becomes available and creates more awareness within the research community. The hurdles to get there are not insignificant. The required founding capital for a foundation is €70.000. A notary, lawyer and tax adviser are constantly required, which is a costly undertaking. The government wants to make sure that the tax benefits of a foundation are not unduly exploited. It is a protection but at the same time also a burden for any new entity.
An association is more cost effective and, with the help of dear friends, be established at almost no cost. Now we have to organise the research project. This entails finding researchers willing to participate, to declare the exact field of research and to put together an action schedule to determine when and how should things be done. All that is absolute new territory for us. The researchers we communicated with have calculated that such a project would need a minimum of 1 million euro to get off the ground. A laboratory has to be leased, researchers need to be employed and equipment needs to be acquired.
Networking – Pass along experience to affected families
Involuntarily we have collected a lot of experience, good and bad, in very short period time. We don’t only want to take but also to give. We want to provide hope for concerned families or individuals with a similar fate. To connect and to exchange. To develop ideas and to work on solutions together. Affected parents have to go through a lot and often feel abandoned and left to their own sorrows. There simply are still no standardised processes in place as you might find in many other medical areas. Nobody can really give helpful advice as to what one should do, where to go and what action is meaningful and what is not. You fight every step along the way from A to B. Mistakes are unavoidable. Difficult times are made even more unbearable for no reason at all.
Why Leon and Friends?
One individual has often less impact than a group of people. One voice is often not heard, many voices get attention. In the case of a child, the situation is even more severe. The child is dependent on the family to step up and fight for him or her. We have been connected to some outstanding families for several weeks now. They are deeply engaged and give their last shirt and all their energy to help their afflicted little sweethearts.
Our little sunshine – a brief look back
The news about the pregnancy was for both of us as unexpected as it was thrilling at the same time. Sandra and I (Florian) had been dearly wishing for a baby but then Leon’s grandmother was diagnosed with cancer. Chemotherapy commenced and our desire for a baby became a distant thought. It was a tremendous difficult time for us all. She is a fantastic human being who has always helped everyone around her and always put herself second. The whole family mobilised all energy to make her feel as comfortable as possible in such a situation.
However it turned out differently
Sandra was having abdominal cramps all weekend long so that we decided to drive to the hospital on Sunday evening. The doctor asked if we had performed a pregnancy test already. The question threw us off for a moment. No, we didn’t do one yet. The ultrasound revealed a little dot. Sandra was calling into the adjacent room where I was told to wait, “Honey, I am pregnant!”. Flashes of hot and cold hit me at the same time and I had a hard time to comprehend. Within seconds I had a lump in my throat and tears in my eyes. The doctor dampened the euphoria at the same moment. The bubble burst within seconds. “A lot of things are indicating an approaching miscarriage. You know, that happens during this early stage of pregnancy rather frequently”.
The subsequent weeks were filled with frequent visits to the hospital for ultrasound and hormone check-ups. The doctors didn’t give us much hope during these visits. Somewhere down the line it became clearer. The pregnancy continued to be anything but simple but the little dot would become Leon.
Leon’s arrival – our dream comes true or not?
The whole family was filled with joy due to the birth of the first child, the first grandchild, the child we all longed for. After about six months the first dark clouds began to appear. We had the feeling that Leon didn’t develop on par with all the children around him. Sandra had a very early feeling about it, supported by her knowledge as a physiotherapist.
An odyssey of check-up after check-up began. Countless blood tests, ultrasound examinations, stool samples, urine tests, metabolic analyses, EEG (brain currents), all the way to a general anaesthetic for a full brain MRI. Always leading to the same answer. “We do not know what the problem is!”. In the meantime, we tried to support and encourage Leon as much as possible. We felt so bad for him, as he was exposed to a variety of different therapy approaches each week. On top of that, there were continued visits to the hospital and the doctors. Every time always the same procedure. Leon began to understand and started crying every time he saw a white coat. Nevertheless again, undress, weighing, measuring, blood sampling, motoric testing and then special examinations.
If one loves a human being more than anything else, the worst that can happen is to be forced to witness their suffering and being unable to render help. Leon often cried so bitterly during these exams and with his little hands longingly stretched toward us, as if he wanted to say, ‘please, help me’, and with big tears streaming down his face. In these moments the overpowering feeling of not being able to help him brought us to our own limits. Leon was only 17 months old and had already endured so much. Right from the beginning he was a very happy baby but the situation was very difficult for him. He smiled less and less and began to get defensive even when we wanted to undress him for a diaper change. We made a decision to try one more visit to the hospital.
We didn’t want to be turned away until every rock had been turned. To remain unrelenting was the motto. One has to mobilise a lot of energy and courage in order to not be crushed by the mills of established systems. This should in no way be a judgement call since the doctors simply lacked the experience with such rare cases. Personal intuition and empathy is not something that can be learned easily. We often had to witness a not so kid-friendly approach, little instinctive feelings and cold statements. Certainly not from everyone, but sadly from a majority that we had to deal with. Luckily, we also met kind-hearted and dedicated doctors along the way.
Leon in everyday life – Challenges today and those to come
Due to the severe developmental delays, the day to day routine is a big challenge. Leon requires a lot of attention and supervision. His meals always have to be thoroughly blended since he has a hard time chewing and is at risk of choking. We already had two near death experiences from choking. He sometimes wakes up 20 times a night, has strong mood swings and difficulty controling his emotions. Leon receives constant care and daily therapy. Every one in the family is working with him and his training. Leon does have a special aura; everyone who meets him wants to hug him right away. In spite of all the hardships and worries he is the best boy in the world to us.
The final diagnosis felt like the rug begin pulled from under our feet. Total emptiness. Since then constant worry about his future are our daily companion. We simply cannot imagine that we are powerless and there is nothing we can do for him. Everyone always wants the best for their kids. That so many things should be denied to him is something we cannot imagine. We try to mobilise all our energy to establish some help for him.
We do get a glimpse of the future from other affected families. The other children are all significantly older than Leon and the challenges grow with their age.
Leon has a little six months old sister now. Marie’s development is great.