In Poland Milenka is only one children affected with this disease

There were supposed to be long walks, holding hands and morning talks as to why you are not wearing a dress and sandals during winter. We were supposed to sings songs together and ride on a pink bicycle... Instead all of our imaginations have fallen apart with a sickness called 1q43q44 microdeletion. We didn’t expect our daughter to be that ill even in our worst nightmares…

The pregnancy was flawless – all test results were ideal until the week 36th when doctor said that the baby is growing slower than expected and asked us to run some more complex tests at the hospital. Once we were admitted, things went blazingly fast. A decision was made to make a caesarean section as the baby was in a terrible condition – it's neck was wrapped twice with umbilical cord. „Your baby may stop breathing very soon” – this is what we heard from the doctor.

Milenka weighed 2.1kg and was 45cm long when she was born. She was really week, slipping through her parents hands. She was found to have IUGR, low muscle tone and weak neurological reflexes. She was neither crying nor sucking, she didn’t want for food. She was sleeping all days long. Finally we got discharged from the hospital but it was just the beginning of our problems. We started a rehab when she was a little girl and we were really hopeful at that time. We started digging and visiting all kind of specialists who found other medical issues: a heart defect, deep hearing loss, sight problems, brain defect, microcephaly, craniostosis and skin issues. To make matters worse she was diagnosed with epiplepsy when she was 8 months old.

Milenka is still under the care of multiple specialists: neurologist, neurosurgeon, cardiologist, ophtalmologist, audiologist, endocrinologist, geneticist and physioterapist. We found it obvious that so many different issues can't be a coincidence. A series of genetic tests revealed the root cause of her issues – 1q43q44 microdeletion. It's an extremely rare disease – there is only a small number of children affected with it and Milenka is the only one known in Poland. We found it really helpful to get in touch with other parents of kids with similar symptomps since the doctors could't tell us much about the future of our daughter.

It's almost impossible to make any predictions about what will the future bring. What we know is that the loss of multiple genes caused huge global development delay. All of this struck as heavily and changed our life fundamentally. A fear came that our child will never be able to live on its own. We try not to think about it however and we are doing whatever is in our power to win this unequal struggle. Despite of all the hospital visits and hard work every day she is a lovely, easy-going girl who shares the smile with every single individual. Her inability to walk or talk really limits her development. For most parents it's something natural that their kids take first steps, come to their parents' bed in the morning, play games or ask for food or drink. We are still struggling to achieve this, recognizing at the same time that each single, small step she makes is at a great cost in terms of effort we put into her therapies, time and money. Our main goal is to make Milenka as independent as we can.

Milenka loves swimming in the pool, exercising with her physiotherapist (which we call 'fitness' by the way) and sight therapy. With speech therapist she learns how to eat, drink from the cup and make better use of her hands. At the moment we are also introducing alternative forms of communication, like gestures and pictures. We hope that thanks to them she would be able to better express her feelings and needs. Milenka has a lot of friends also in the animal kingdom since she attends therapy sessions with a dog she loves. For such a small child she is an extremely motivated person, she never cries and always does whatever their therapists ask of her without hesitation. We are also aware of these physical therapy camps, that can bring a great deal of difference in terms of motor and mental development on top of the the daily hard work.

This year we are hoping to attend two such camps, however the aggregated cost is above our capabilities. We strongly believe we can find people who are keen and have big hearts to make our dreams come true. Someone can say that this diagnosis is a sentence - but not we. We believe it's only a beginning of a fight for a better tomorrow of our child. This is where we ask You to help us win this!