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Care for Rare

Month

February 2016

Rare Disease Day and why it’s important

Penelope was born in June 2014 and after a very rocky start (needing ECMO treatment to save her life) we soon learnt that she had a rare disease called hyperinsulinism. This is essentially the opposite of diabetes whereby too MUCH insulin is produced causing potentially fatal low blood sugar. She began medication and responded extremely well, however some months later when the genetic cause of her Hyperinsulism was being investigated it transpired that it was the result of ANOTHER rare disease- Beckwith Weidemann syndrome. This is an overgrowth disorder with a myriad of symptoms affecting each individual differently. In Penelope’s case her pancreas was enlarged and thus secreted too much insulin causing hyperinsulinism and low blood sugar. But, the main worry attached to BWS is an increased risk of childhood cancer for which she receives regular screening and blood tests. We feel very lucky everyday for getting the diagnoses of her rare diseases relatively fast as it means she now gets the care she’ll need, until the age of 8 when fortunately the chances diminish. Luckily there is a great support network of parents on hand from around the world who help each other out with advice and such like. I try to raise awareness for these rare diseases as I know that getting a diagnosis isn’t always as straightforward as it was for us but can save lives in some cases! 

  
Happy Rare Disease Day! 
For more info: Hyperinsulinism & Beckwith Weidemann

More Exciting News for Penelope and Friends

Yay! Lots happening for Penelope and Friends. As well as working with the lovely lady from @bitsandbows2 (check her out on Instagram by the way, she sells lovely baby accessories); I have also set up another account called @penelopes_preloved. I’m currently going through clothes that are unfortunately too small and some that she only ever wore once or twice because she is so fast at growing! Once that’s underway I am putting all proceeds into making more NICU bags!

It’s also Rare Disease Day at the end of the month so I’ve been sharing Penelope’s Hyperinsulism story which will also raise awareness and I’m working on ideas with some lovely BWS mums too. Keep your eyes peeled! 
  

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