Liliana is a 2-and-a-half-year old child, but she stopped developing when she was 6 months old. Due to stiff legs, taut arms and clenched fists, she cannot sit herself. While her slender neck prevents her from controlling her head. She also has skin lesions all over her body. Polish doctors claim to be helpless, but we don’t give up and thus we need your help.
We began to worry before Liliana’s first birthday, as she did not learn new skills like other children. No sitting or waving goodbye, no babbling… Additionally we noticed that muscles in her limbs were increasingly tense, while in her spine – too flabby. We consulted a few paediatricians and physiotherapists about it, but they said that children develop at their own pace and there was nothing to worry about.
However, a neurologist immediately referred us to hospital to see what was happening. The first EEG did not reveal anything, but the brain MRI showed that myelin in Liliana’s brain (a substance responsible i.a. for moving and speaking) had stopped developing. Demyelination is not a disease itself, but rather a symptom of and we had to find its origin.
To find what Liliana suffered from, doctors conducted various tests, but their results were unclear. Some of them indicated some kind of disease, while others ruled it out. Finally the first diagnosis was: autoimmune encephalitis. It sounded grand, but we were full of hope as it is curable.
Liliana was given steroids and immunoglobulin. After the first infusion, increased tension and even spasticity lessened, but only for some time. Unfortunately, after a subsequent infusion there was hardly any improvement, and steroids seemed to have intensified some symptoms. In July, after another dose of immunoglobulin there was no improvement at all. Another brain MRI performed 8 months after the first one showed that, despite applied treatment, myelin in Liliana’s brain had not developed. We returned to the starting point.
It was when we started sending emails to various hospitals in the whole world, sending test results and asking for help. Doctors from Rotterdam suggested that Liliana may suffer from Aicardi-Goutières Syndrome (AGS): a rare, serious and incurable genetic disease. They suggested performing a genetic test, called WES.
Although initial results showed one genetic mutation on ADAR 1 gene (which Polish experts associated only with skin problems), a world-renowned Professor from Paris, specializing in AGS, claimed that according to recent studies even this one mutation might indicate AGS, (its rarest and least known type 6). Another test confirmed the genetic mutation.
What is AGS? In short: a genetic defect responsible for physical and mental disability. Type 6 has been diagnosed in fewer than 10 people throughout the world. So far treatment has been only symptomatic (physiotherapy, preventing malnutrition, respiratory problems and other complications), but there is light at the end of the tunnel. A few research centres (i.a. Philadelphia, Paris) have launched experimental programs aiming at finding a drug for AGS.
At the moment we are heading for Philadelphia for thorough examination and further tests. If everything goes fine, Liliana will qualify for so-called JAGA program. It means that we may have to travel to Philadelphia very often to monitor the results and consult specialists. Nobody can promise anything at this stage, but we will do anything to help Liliana.
At present we are paying for Liliana’s physiotherapy 5 times a week, leg orthoses and necessary medical consultations. We have also covered WES costs and may have to pay for botulinum injections. But we can deal with it. But without your help we will not be able to travel to the USA for experimental treatment!
That is why we kindly ask you to help us through donations and share the information on this collection!
You can help Liliana here: