Natalia is aged 7 from Cookham in Berkshire. She was born with a rare condition known as Phelan-McDermid syndrome or PMS. PMS is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene. The disorder can cause a wide range of symptoms varying in severity. These symptoms could include global developmental, motor skills deficits, delayed or absent speech, autism spectrum disorder and minor dysmorphic features.

We didnt know how challenging Natalias life would be.

Around 7 months we started to search for a diagnosis as she wasnt doing what children should do it at that age. At 18 months we were given the diagnosis. My world collapsed that day. I was devastated. I was thinking why my child. I couldnt believe that my child may not walk or talk.

I tried to look for other families who had child with a similar disorder. I wanted to know what the future would hold. It took me ages until to one day a friend told me not to compare your child to someone elses. Everyone is different. Start a therapy with her that will help her get better. So, I booked an intensive therapy camp in Poland for 2 weeks, 4 hours a day -physiotherapy, hand therapy, horse riding, hydrotherapy plus speech and language therapy.

I didnt know by what to expect. Natalia was around 3 and a half. We went there and she was so happy. This was a huge positive step. After the second round of therapy Natalia started to walk independently. I couldnt believe it! We were over the moon!

We want to do this at least 3 times a year but it is so expensive.

Every time we go there Natalia makes small steps of progress. For us this is the best thing you ever could ask for.

Our journey is very long but we are seeing light at the end of the tunnel. Now we are still working on balancing, on hands to use them properly and further communication skills. Natalia is 7 years old today. She has made huge improvements over those years. Please, we need your support.

Thank you

Natalia's mum

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