We are not used to reveal our “story”, but some events like a rare and severe genetic disease is pushing our
hand…
Maïa was born in April 2009 in Paris. Very early on, our magnificent little daughter has shown some obvious signs of development delay. From a genetic point of view, the first tests don’t show any particular anomaly. Since the age of 1 year old, Maïa attends sessions of physiotherapy, psychomotricity and speech therapy. At 2, she can’t point with her finger, she doesn’t show any interest in any game, she flutters a lot. Her attention is brief, her progress is minimal. Everything points to an autistic disorder.
In 2012, Maïa is 2 ½ years old, when we leave Paris to set up “stimulation from games” method that comes for the US. For 4 years, 30 volunteers will take turns 7 days a week to come and play with Maïa in a special play room set up at our house. This space allows Maïa to not be disoriented and better concentrate by removing distraction sources. Within the first months, we are very happy to see that Maïa progresses a lot (language understanding, vocalizations, babblings, language, speech, motor skills,...).
In September 2012, Maïa is 3 ½ years old when she experiences her first two epilepsy crisis. Maïa is now 9 years old. She doesn’t have an autistic disorder, but suffers from a severe epileptic encephalopathy. She has epilepsy crisis (tonic crisis / absences / myoclonus) several times a day or night. Maïa is a little girl that needs full time monitoring due to her total lack of autonomy and her epilepsy crisis resulting in a high probability of falling.
Maïa walks but always with someone to hold her hand. Her instability is more and more important as she grows up. The only place on earth Maïa is free to do what she wants on her own is on her trampoline where the risk for her to get hurt is minimized. Maïa doesn’t talk. She has difficulties in precise motor skills and we accompany her in all everyday tasks.
Up to now, all treatments have failed (antiepileptic, corticosteroids, ketogenic diet, surgery full corpus callosotomy).
In July 2016, after years of research, Maïa is finally diagnosed with a mutation of the KCNB1 gene. When Maïa was diagnosed 2 years ago, we thought our little girl was the only French patient. We searched on the internet and find out that there is very little on this “illness”.
We communicated with a group of parents from the United States. We were then 10 families in the world. After months of research and contacts with hospitals and doctors, we made contact with 15 French families. In August 2017, we created with other parents the KCNB1 France, of which I am the President. We are so happy to finally be able to share our experiences and have research take interest in us. We are determined to help doctors and researchers to find the more efficient treatments in order to ease the pain of our children and to help them “grow" in the best possible way.
With Maïa, we learn to live day by day. We enjoy every moment and every little progress… We love her more than anything and we will never give up. We thank you, Paul and I, in advance for all the help and the support that you will give Maïa and her friends.
hand…
Maïa was born in April 2009 in Paris. Very early on, our magnificent little daughter has shown some obvious signs of development delay. From a genetic point of view, the first tests don’t show any particular anomaly. Since the age of 1 year old, Maïa attends sessions of physiotherapy, psychomotricity and speech therapy. At 2, she can’t point with her finger, she doesn’t show any interest in any game, she flutters a lot. Her attention is brief, her progress is minimal. Everything points to an autistic disorder.
In 2012, Maïa is 2 ½ years old, when we leave Paris to set up “stimulation from games” method that comes for the US. For 4 years, 30 volunteers will take turns 7 days a week to come and play with Maïa in a special play room set up at our house. This space allows Maïa to not be disoriented and better concentrate by removing distraction sources. Within the first months, we are very happy to see that Maïa progresses a lot (language understanding, vocalizations, babblings, language, speech, motor skills,...).
In September 2012, Maïa is 3 ½ years old when she experiences her first two epilepsy crisis. Maïa is now 9 years old. She doesn’t have an autistic disorder, but suffers from a severe epileptic encephalopathy. She has epilepsy crisis (tonic crisis / absences / myoclonus) several times a day or night. Maïa is a little girl that needs full time monitoring due to her total lack of autonomy and her epilepsy crisis resulting in a high probability of falling.
Maïa walks but always with someone to hold her hand. Her instability is more and more important as she grows up. The only place on earth Maïa is free to do what she wants on her own is on her trampoline where the risk for her to get hurt is minimized. Maïa doesn’t talk. She has difficulties in precise motor skills and we accompany her in all everyday tasks.
Up to now, all treatments have failed (antiepileptic, corticosteroids, ketogenic diet, surgery full corpus callosotomy).
In July 2016, after years of research, Maïa is finally diagnosed with a mutation of the KCNB1 gene. When Maïa was diagnosed 2 years ago, we thought our little girl was the only French patient. We searched on the internet and find out that there is very little on this “illness”.
We communicated with a group of parents from the United States. We were then 10 families in the world. After months of research and contacts with hospitals and doctors, we made contact with 15 French families. In August 2017, we created with other parents the KCNB1 France, of which I am the President. We are so happy to finally be able to share our experiences and have research take interest in us. We are determined to help doctors and researchers to find the more efficient treatments in order to ease the pain of our children and to help them “grow" in the best possible way.
With Maïa, we learn to live day by day. We enjoy every moment and every little progress… We love her more than anything and we will never give up. We thank you, Paul and I, in advance for all the help and the support that you will give Maïa and her friends.