On the 19th November 2016 our long-awaited daughter Zuzanna was born. At that time we were the happiest people in the world and our love for Zuzanna was getting stronger and stronger...
We were over joyed with happiness that Zuzanna was a healthy and well-developing baby but unfortunately did not last long. After a few months I noticed that Zuzanna had not yet gained the movement skills that babies her age should have by then and that vision wise she did not fix and follow.
After numerous consultations, it turned out that Zuzanna had evolving cerebral palsy, increased muscle tone and vision problems. Zuzanna also began to have serious problems with her feeding. Despite the physiotherapy input she was now having, we were still seeing little psychomotor progress.
There was a moment when I felt completely helpless. I did not know how I could help my little daughter with her development and what to do for the best.
Following this Zuzanna started to get other symptoms diagnosed and underwent so many different tests such as: metabolic, genetic, gastroenterological, allergological, cardiological, neurological and ophthalmological.
I told myself that I would do everything to find this "needle in a haystack" and to stand on the forehead so my daughter could reach her full potential.
MALGORZATA AND ZUZANNA
written: January 2020
After 8 months of fighting, research and numerous hospital visits I found out that Zuzanna has had severe developmental impairment, increased tone muscle, microcephaly, epilepsy, scoliosis, cortical visual impairment, heart problems, a sleep disorder and gastro-esophageal reflux.
By the time she reached her first birthday Zuzanna could not sit independently, crawl or walk and despite the onging numerous different areas of testing I still had no answers as to why.
When Zuzanna was 2 years 9 months, finally came the day when we heard life changing news from the doctor's:
Everyone is so lovely and if I have any concerns or questions I always get help from the other parents. I feel comfortable sharing my feelings with the group. This community is very therapeutic and healing for me as I no longer feel as isolated.
They told us that Zuzanna had an alternation in a gene called NAA10 which caused damage to the central nervous system along with changes in the brain causing all Zuzanna's difficulties.
She is now is under the care of a neuro-disability paediatrician, an epilepsy nurse, an ophthalmologist, a cardiologist, a geneticist, a dietician, a gastroenterologist, orthopedics, a health visitor and ear, nose & throat specialist.
Zuzanna is now over 3 years old. She is able to roll from her back to her tummy and from her tummy to back and is trying to reach for toys. She is starting to understand more and most importantly slowly trying to sit by independently.
Despite her syndrome, Zuzia is a very cheerful girl who bravely fights adversity.
The NAA10 Families Together community is very helpful and supportive. Before I found out about them, I thought I was the only person in the world with a daughter with these difficulties and syndrome.
'' We have a diagnosis ... she has an alteration in a gene called NAA10.''
The NAA10 Families Together group helped me to learn more about my daughters condition just by the other parents sharing their experiences. It has helped me to stay motivated and fight for my daughter.
I hope that in the future my daughter Zuzanna will be able to reach her full potential. I am praying for Zuzanna as well as other NAA10 children for them to all one day be able to sit, crawl, walk, talk and be independent and most importantly to be accepted by other people.
I dream that one day Zuzanna will independently come and hug me and say 'mama'.
I hope that one day genetic research will find a treatment for our NAA10 children.