About Marysia
Marysia was born in 2005. After several years of research in the genetic clinic, it turned out that our daughter has a genetic defect in the form of damage to chromosome 3.
The exact diagnosis is: ‘The imbalance in the form of genome deletion on the short arm of chromosome3 inband p25.3 The ~ 404 kb. This deletion includes three genes: SLC6A1 (137165), HRH1 (600167), ATG7 (608760).’
The first two genes act in the nervous system as neurotransmitters, they are responsible for the conduction of stimuli in the brain. This is manifested by delays of psychomotor development, psychomotor hyperactivity and speech retardation of our daughter.
Unfortunately, deletions in this area, as that detected in Marysia’s, has not been previously described in the literature. This means that Marysia is the only child with this kind of genetic defect at the moment …
The only chance to overcome this developmental delay is the intensive rehabilitation. The cost of treatment of our child is enormous. Fees for rehabilitation at home, specialized massages, rehabilitation camps therapy, speech therapy, hippotherapy, and most of all rehabilitation appointments of sensory integration are extremely expensive.
Thanks to the classes Marysia has made considerable progress and approached developmentally to her peers from the integrated school she attends.
Despite the genetic defect of our daughter and lack of information on similar cases in the world, we will continue to support the development of Marysia because we believe that intensive work and effort will provide rewarding success in the future:
MARYSIA’SINDEPENDENCE.
We would like to thank all the people who donate the 1.5% of tax on the rehabilitation of Marysia, and most of all, we would like to express our gratitude to everyone who gave our daughter a helping hand and supported her with her development:
Monika, Kasia, Grażynka, Martynka, Justynka, Ewelinka, Maciek,
and many others…
THANK YOU …
