In June 2018 I was diagnosed with the extremely rare Syngap Syndrome, which is considered uncurable. Now my parents want to make the impossible possible by finding successful treatments to give me a chance for a normal life. But we need your help for this!
In June 2018 I was diagnosed with the extremely rare Syngap Syndrome, which is considered uncurable. Now my parents want to make the impossible possible by finding successful treatments to give me a chance for a normal life. But we need your help for this!
Welcome to our fundraising research project Leon & 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.
We thank you for your support!
Sandra, Florian, Leon and Marie
With this form you can conveniently make one-off or recurring donations via credit card or Paypal.
Our donation account for bank transfers
LEON AND FRIENDS e.V.
Bank: Sparkasse Salzburg
IBAN: AT55 2040 4015 0015 0045
BIC: SBGSAT2SXXX
Donate directly via PayPal. You can also set up recurring donations.
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 300 worldwide. The actual figures are suspected to be much higher. Leon has been diagnosed with the Syngap Syndrome.
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.
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 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.
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 tremendously 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.
Sandra was having abdominal cramps all weekend long so that we decided to drive to the hospital on a 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!”. Within seconds I had a lump in my throat and tears of happiness in my eyes. The doctor dampened the euphoria immediately. The bubble burst within seconds. “A lot of things are indicating an approaching miscarriage. That happens during this early stage of pregnancy rather often.”
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 get a chance to become Leon.
The whole family was filled with joy due to the birth of our first child. But after about six months the first dark clouds began to appear. It felt like Leon didn’t develop on par with all the children around him. Sandra had a very early intuition about it, supported by her knowledge as a physiotherapist.
An odyssey of 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. Leon began to understand and started crying every time he saw a white coat. But we had to continue. Undressing, weighting, measuring, blood sampling, motoric testing and so on.
Leon often cried so bitterly during these exams with his little hands longingly stretched toward us, as if he wanted to say: “Please, help me!” – 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 only 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 we had a diagnosis. To remain unrelenting was the motto. We often had to witness a not so kid-friendly approach, lack of empathy and cold statements. Certainly not from everyone, but sadly from a majority of doctors that we encountered. Luckily, we also met kind-hearted and dedicated one along the way.
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 due to choking. He sometimes wakes up 20 times a night, has strong mood swings and difficulties controlling his emotions. Leon receives constant care and daily therapy. Everyone in the family is working with him and supports 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 a rug pulled from under our feet. Total emptiness. Since then, constant worries about his future are our daily companions. 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 don’t want to accept. We try to mobilise all our energy to find help him.
We do get a glimpse of the future from other affected families. Their children are all significantly older than Leon and the challenges increase with their age.
© 2021 Leon & Friends e. V.
