This page is dedicated to a concise overview about Leo's treatments, but it's not at all complete. Who would want to read again and again about visits and checks? Even a normal child has more than enough visits to the doctor, a special kid has a lot more. All this effort is made to control his condition as much as possible and to provide the highest quality of life possible. In the end, they are but children who want to play and explore the world in their own ways.
At first, everyone notices how different a special child is. We understand if people glance or stare at Leo, maybe even try to ask questions. We believe by answering the questions here most people are afraid to ask in person, everyone can focus on the most important thing: Leo is an adorable little boy, with his own unique personality.
Epilepsy: This was the first symptom, for a lot of doctors Leo is "just" a boy with epilepsy ever since. He was one hour old when he was taken to NICU with suspicion of epileptic seizure activity, which was only confirmed almost 1 year later by EEG. We're constantly trying different drugs to control his epilepsy. These spells usually last a few months, before we need to readjust the medication. As every seizure has the potential to worsen his condition, it's important to have them under control as much as possible.
Motoric skills: Leo has the motoric skills of an average 3-6 months old baby. He cannot hold his head alone, cannot crawl, sit or walk. Sometimes he's hypotonic, sometimes hypertonic, sometimes it's a mix of both. He'll need a special wheelchair once he's old enough. Daily physical training is required to try improving his skills and also to prevent his condition from worsening due to lack of physical activity.
Visual skills: As the condition also affects the part of the brain which is responsible for processing visual information, after some time, the optic nerve becomes damaged. Due to the genetic nature of the condition, medicinal/surgical treatment is unfortunately not possible. Leó’s eyes are light-sensitive, he feels most comfortable in a semi-dark or dark place. Even though he can see a bit, he does not primarily rely on his eyesight to discover the world around him. In fact, how much he can use his eyes often changes throughout the day - sometimes for the better, sometimes for the worse. Do not be surprised if he does not look directly into your eyes when you meet him, but do talk to him, say hello, and he will for sure know you are there. His hearing is outstanding, but similarly to other kids, it is often selective. :)
Intellectual development: Leó perceives what is happening around him, but due to his condition, he has limited ways to react. Crying and different motions are usually utilized to express his dissatisfaction; smiling, laughing and sighing are the signs of him enjoying what is happening. As he cannot express his needs through words, for someone meeting him for the first time, it can be a bit hard to understand what he wants. His hearing is very good, music is his favourite. He can smell, taste, recognize when he has been picked up, hugged or given a kiss. You cannot really test these things, but they do give the essence of life.
Other symptoms:
- Ataxia: the difficulty of coordinating muscle movements, one of the primary indicators of the KCNA2 genetic mutations. This causes him to not be able to coordinate his limbs and eyes. It also causes dysphagia.
- Sleeping: Many epileptic children do not have their circadian rhythm properly aligned, and it is typical for kids with this genetic mutation as the KCNA2 gene is also responsible for its control. Leo has a hard time falling asleep and has a tendency to mix up day and night. If it was up to him, he would go to sleep at 2 AM and wake up at noon.
- Pain perception: The gene is also responsible for controlling pain perception. Some kids sense pain more, some less, according to parents’ testaments. There are no exact descriptions regarding Leo’s mutation, but given his frequent moodiness, we suspect that he may be more sensitive towards pain.
- Digestion: This is partially correlated with a sedentary lifestyle and ataxia. There are 4 children known to us who live with this condition and are older than Leo. Three of them are fed through feeding tubes. Currently, Leo can eat pureed food with a spoon, but if his issue with swallowing or digestive problems increase or perhaps his weight does not reach a minimum threshold (he has a hard time gaining weight even now), this may be the solution with the lowest risk. We have already received a medical recommendation for the feeding tube. However, we would also like to avoid this option as long as possible.
Apart from the usual GP, Leo visits regularly the following departments: neurology, development neurology, optometry, oncology, general surgery, gastroenterology, orthopaedics, child rehabilitation, dentistry. We'll not go into details about most of them to keep the contents on this page to a manageable size.
Therapy and classification in the Hungarian healthcare system (SNI)
Leó is classified as a "Child needing specialized education" (SNI). This diagnosis allows him to receive treatment appropriate for his age.
Leó receives complex physical and occupational therapies multiple times a week at the Fellegvár daycare, which incorporates movement, eyesight and intellectual training. Once a week an visual trainer visits him.
Is he getting the right treatment?
We know that everyone trusts their own method the most. Oftentimes, we were scared to tell specialists that we have seen others too.
We have tried lots of things, maybe there were periods when we tried too many. Leó also has his own limits, he cannot be treated 24/7. In most places, Leó was treated with utmost love, and we would like to thank everyone who worked with him for shorter or longer periods.
To illustrate how many possibilities there are, below is a list of physical and occupational therapies (for various ages and diagnoses):
Katona method, Dévény method, Pető method, Doman method, TSMT, HRG (BHRG, hydrotherapy), physiotherapy, occupational therapy, visual therapy, nutrition therapy, Kulcsár therapy, Ayres therapy, Pfaffenrot therapy, Bobath therapy, Kinesio taping, ABR therapy, animal-assisted therapies (dogs, horses, dolphin), Vojta therapy, Suit therapy, Thomatis method, Feldenkrais therapy, INPP, Delacato method, Schichida method, BMC somatic movement education, Bowen therapy…
It must be noted that neither of these methods offers improvement after one session, most often they are recommended once a week, throughout months. This goes to show that one cannot really try everything, nor does it make sense to do so.
Probably the best treatment for Leo right now is attending the Fellegvár daycare, where he currently goes each workday for training, therapies and socialization. This is the only institution in Hungary (including both government and private ones) where Leó is welcomed and where he can receive treatment appropriate for his condition. Herewith we would like to thank everyone who contributed to the establishment and operation of this special institution. It deserves a post on its own, and we will write about it later.
English 
Hungarian