Melania was born in December 2008 in Warsaw. She is our second child, preceded by her brother Ignacy by only 16 months. When she was still in the womb, in the 7th month of pregnancy we were diagnosed with hypotonia, but finally she was born healthy, her birth stats were in the very middle of norm. For the next several months she was developing as other children, however when she was 6 months old, we noticed that one of the milestones didn't come. She was not sitting. We went to a Neurologist, but she said it’s ok, that not all the milestones go by the book. So we waited.
With the next months we were noticing more delays, so we started visiting more doctors. We also started rehabilitation, mainly gross motor. Then one doctor said it was Cerebral Palsy. This was our first diagnosis and it broke our hearts. As the distance to her peers kept increasing, we were rehabilitating her even more with speech therapy, psychomotor therapy, psychologist therapy, auditory training therapy (with breakthrough results), dog-assisted therapy and hippotherapy. Desperate parents try everything they can to help their child, so we even went for fraud therapies like amino-acid treatment, which promised miracles as long as you pay them good. We learned from our mistakes.
With time, we accepted that Melania is different. Yes, different, not ill. We adapted. At the same time, we kept looking for more clues or causes of her state. More doctors, more tests. Cerebral Palsy was ruled out in the process. Totally. So we were looking into others, trying to connect symptoms. More were ruled out, including all spectrums of autism and other known diseases or disabilities. The doctors had no clue, so they diagnosed her with Encephalopathy of unknown origin and we were put in a kind of a dead end.
We started sharing her story, went as far as creating a Facebook page for others to know and to support us. In Poland, each individual can donate 1% of their taxes for charity, so we asked all good people to support us. And they did. They still do. Now, with their help, we are able to fund all the therapies, even dolphin-assisted therapy, which Melania loves most of all. Her beloved dolphins Artemis, Maya, Celcius and Izis. And this way, we kept going forward. She was developing at her own pace.
At some point we went to a Psychiatrist trying to find a way to help her focus, to harmonize the chaotic reception of stimuli. She was prescribed a drug for treatment of ADHD. She seemed to get better, but at that time we noticed she had brief absences. So our current Neurologist decided to do an EEG with flashes, which showed discharge spikes that were not visible in standard EEG. We didn't know if the deterioration of EEG results was caused by the ADHD drug or not, but we decided to put it off and started treating her with a minimum dose of anti-epileptic drugs to prevent Epilepsy. Her state improved.
She’s been going forward in many areas. We decided to put her in a special school for mildly to moderately mentally impaired children, which turned out to be an excellent choice. The people there know what they are doing, and the children they teach are most important for them. We also started genetic tests, but with public healthcare it takes years for the tests to be done. Each single test didn't bring us any closer, and the years passed. Finally, with more years of no diagnosis, by the end of 2017, we decided to go for expensive genome sequencing test and finally got a clear result. In 2018, Melania was diagnosed with a de novo mutation of KCNB1 gene. Despite the fact that we know there is no cure, at least now we know what it is. We know that treating her with anti-epileptic drugs might have stopped the Epilepsy from coming. And now we can connect with all the people affected by the same condition. Now we can join all the efforts in the world to try to find some cure or improvement for all our KCNB1 children.
Melania is now 10 year old. She’s a very cheerful child, but on the other hand, difficult. She loves all animals, especially dogs. She is very open, even to strangers, smiling to them or talking. When they have a dog, they are her friends already. She keeps asking questions, sometimes very repetitive. Her speech has improved a lot and now it’s impaired only slightly. Her mood is subject to abrupt changes, going to extremes, especially when weather changes. At one time she can be happy, then suddenly she can become very angry and yell, usually when she can’t get what she wants.
The concept of time is still difficult for her grasp, but I think she’s doing some progress in this field. Small progress is in counting as well – she’s currently learning basic calculations within 1 to 10. She’s very keen on learning, she wants to read, whenever she sees some word, she spells it and then reads it. She’s also doing some improvement in drawing, though there is still a long way to go. It is very difficult for her to keep focused, she gets distracted by even the smallest movement or smallest item in her surroundings or even a sound at the border of audibility.
She is in constant movement, she just can't sit down and do nothing. When she's alone, expect the worst. We try to engage her in as many physical activities as we can to channel her energy. We did ski-therapy courses, we are also moving forward with cycling, but she still needs to learn to ride on two wheels, which is so far proving to be too difficult. She was also training horseback riding, but after two falls off a horse, we decided to stop it for her safety. Currently, she’s learning to swim, which is going very well so far.
Melania’s clinical indications:
With the next months we were noticing more delays, so we started visiting more doctors. We also started rehabilitation, mainly gross motor. Then one doctor said it was Cerebral Palsy. This was our first diagnosis and it broke our hearts. As the distance to her peers kept increasing, we were rehabilitating her even more with speech therapy, psychomotor therapy, psychologist therapy, auditory training therapy (with breakthrough results), dog-assisted therapy and hippotherapy. Desperate parents try everything they can to help their child, so we even went for fraud therapies like amino-acid treatment, which promised miracles as long as you pay them good. We learned from our mistakes.
With time, we accepted that Melania is different. Yes, different, not ill. We adapted. At the same time, we kept looking for more clues or causes of her state. More doctors, more tests. Cerebral Palsy was ruled out in the process. Totally. So we were looking into others, trying to connect symptoms. More were ruled out, including all spectrums of autism and other known diseases or disabilities. The doctors had no clue, so they diagnosed her with Encephalopathy of unknown origin and we were put in a kind of a dead end.
We started sharing her story, went as far as creating a Facebook page for others to know and to support us. In Poland, each individual can donate 1% of their taxes for charity, so we asked all good people to support us. And they did. They still do. Now, with their help, we are able to fund all the therapies, even dolphin-assisted therapy, which Melania loves most of all. Her beloved dolphins Artemis, Maya, Celcius and Izis. And this way, we kept going forward. She was developing at her own pace.
At some point we went to a Psychiatrist trying to find a way to help her focus, to harmonize the chaotic reception of stimuli. She was prescribed a drug for treatment of ADHD. She seemed to get better, but at that time we noticed she had brief absences. So our current Neurologist decided to do an EEG with flashes, which showed discharge spikes that were not visible in standard EEG. We didn't know if the deterioration of EEG results was caused by the ADHD drug or not, but we decided to put it off and started treating her with a minimum dose of anti-epileptic drugs to prevent Epilepsy. Her state improved.
She’s been going forward in many areas. We decided to put her in a special school for mildly to moderately mentally impaired children, which turned out to be an excellent choice. The people there know what they are doing, and the children they teach are most important for them. We also started genetic tests, but with public healthcare it takes years for the tests to be done. Each single test didn't bring us any closer, and the years passed. Finally, with more years of no diagnosis, by the end of 2017, we decided to go for expensive genome sequencing test and finally got a clear result. In 2018, Melania was diagnosed with a de novo mutation of KCNB1 gene. Despite the fact that we know there is no cure, at least now we know what it is. We know that treating her with anti-epileptic drugs might have stopped the Epilepsy from coming. And now we can connect with all the people affected by the same condition. Now we can join all the efforts in the world to try to find some cure or improvement for all our KCNB1 children.
Melania is now 10 year old. She’s a very cheerful child, but on the other hand, difficult. She loves all animals, especially dogs. She is very open, even to strangers, smiling to them or talking. When they have a dog, they are her friends already. She keeps asking questions, sometimes very repetitive. Her speech has improved a lot and now it’s impaired only slightly. Her mood is subject to abrupt changes, going to extremes, especially when weather changes. At one time she can be happy, then suddenly she can become very angry and yell, usually when she can’t get what she wants.
The concept of time is still difficult for her grasp, but I think she’s doing some progress in this field. Small progress is in counting as well – she’s currently learning basic calculations within 1 to 10. She’s very keen on learning, she wants to read, whenever she sees some word, she spells it and then reads it. She’s also doing some improvement in drawing, though there is still a long way to go. It is very difficult for her to keep focused, she gets distracted by even the smallest movement or smallest item in her surroundings or even a sound at the border of audibility.
She is in constant movement, she just can't sit down and do nothing. When she's alone, expect the worst. We try to engage her in as many physical activities as we can to channel her energy. We did ski-therapy courses, we are also moving forward with cycling, but she still needs to learn to ride on two wheels, which is so far proving to be too difficult. She was also training horseback riding, but after two falls off a horse, we decided to stop it for her safety. Currently, she’s learning to swim, which is going very well so far.
Melania’s clinical indications:
- Low muscle tone
- Intellectual delays
- Multifocal spike discharges
- Fine motor delays