On the 1st October I will be completing my first ever half marathon in Cardiff almost a year after giving birth to my second daughter. For those of you that know me, this will be a great achievement for me as it has taken all my determination and strength to get physically fit enough to be able to do this. As part of this, I am raising money for a special little boy that is close to mine and my family's heart named, Rudy who was born with 49 Syndrome.
49,XXXXY syndrome is a type of chromosome abnormality characterised by the presence of 3 extra X chromosomes in males. Signs and symptoms of 49,XXXXY syndrome can include learning difficulties, low muscle tone, hypogonadism, infertility, delayed growth, distinctive facial features, epilepsy and a variety of birth defects that may affect the heart, bones, brain and/or kidneys.
This condition is so rare that Rudy is in fact only one of around 80-90 cases that have been currently reported in the world!
Since Rudy has been born, his amazing parents have dedicated their lives to making sure that Rudy has what treatment & support he needs. However, this has not always easy for them due to how rare the condition is. This is also another reason that I have chosen to raise money for Rudy in particular, as I hope that I will be able to contribute in raising awareness about this rare condition.
Rudy's future is very uncertain in a lot of ways but I do know that he does has a very strong and loving family. I would very much love to raise a little bit of money for them so that they can use it towards helping Rudy and his future and ensure that he continues to get what he needs in regards to his treatment, medical care or any specialist equipment he may need.

Thank you for your donations and for taking the time to read about Rudy's story.

Gemma
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