So, here I am again setting myself another HUGE challenge but this time I have LOTS of other crazy people willing to put their time and effort into raising money and awareness for this charity also......read more to find out why!
As most of us know, Ruby has always been our special girl, she has struggled every day and her chances of a ‘normal’ life is next to none. We don’t think she will ever be able to read, write or do all the day to day tasks that you and I probably take for granted. She now has her ‘little’ amazing brother Oliver trying hard to help her read. However, Ruby is the happiest of girlies (in the middle of lots of strops!) and she absolutely loves Ruby’s world...........some days she asks why she doesn’t have friends to her parties but then she’s easily distracted by us allowing her fairy friends - I sometimes wish I was Roo!
Back in 2015 Ruby, Ruby’s dad and I took part in a national genetic study called the DDD study, we knew the results were going to take some time. After a couple of years of calling and still no results I just came to the conclusion she was just our SWAN (syndrome without a name) but this week a letter has been received to say that the results have come back and Ruby has been diagnosed with a Chromosome deletion and has Phelan-McDermid Syndrome. This was such a HUGE shock to the whole family, we all knew Ruby was our special girl but we didn’t realise how special..... around 200 people in the country are diagnosed with PMS. My first port of call was of course Google, I started reading (in between the tears) and it was like I was reading an artical on our Roo, it’s amazing! After years and years of not knowing what we can do to help Ruby we now can :) we have the support of PMSF and a support group with other PMSF families from all over the world. For once Ruby is not alone!!!!!! It’s still very early days, our first hospital appointment is today (I’m sure there will be many more) but now the only way is up, we, as a family can do everything we can to help her!!
MASSIVE thank you to my fellow hikers - be prepared for many tears! And a MASSIVE thank you for reading my story and helping my get PMSF out there.
I will be doing lots of fundraising events so this page will stay open, Ruby’s brothers and sister want to help raise money, so we will be planning a kids Three Peak Challenge too :) stay tuned......😍😍😍