Sophia is 4 months old and has been in and out of hospital since the day she was born (mostly in hospital). Not until recently, doctors/nurses were unsure as to what the problem with Sophia was, trying numerous treatments but to no avail. The family were taken to Birmingham Childrens hospital where they spent weeks, which most likely felt like years whilst the doctors/nurses worked day & night to try and get to the bottom of why Sophia was so poorly. With great sadness for all close to Sophia, once the diagnosis was made we discovered that Sophia has congenital disorder of glycosylation (CDG 1a), which is an incredibly rare disease to which there is no cure and according to the metabolic specialists at Birmingham Childrens hospital has never before been seen in a child so young (please see the link attached for details of the disease). The disease is caused by mutations of the PMM2 gene and is inherited as an autosomal recessive genetic trait which means Jake & Shannon share the same faulty gene which has been passed onto Sophia (as you can imagine the odds of this happening are extremely slim).
Due to Sophia having been constantly under observation, having multiple needles and tubes being stuck/fed into her since the day she was born and the large amount of bruises/scars over her body from such actions in order to further prolong her already short life expectancy, Jake and Shannon made the very difficult decision to bring her home which meant removing the drain from her heart which removes the buildup of fluid so that she can spend her final days/week with family/friends.
Jake & Shannon were informed that they could not replace the drain removing the fluid from around her heart once removed and that Sophia may pass away within a few days. Sophia is currently on multiple medications and is tube fed constantly through her nose.
As a result of this news, friends and family surrounded the little princess, showered her with love and celebrated Christmas early on 07/12/2017. I really cannot not begin to describe how much Sophia is loved and how much she has touched all of our lives in the brief time she may be with us (as I write this Sophia is currently still with us).
Due to the short notice of this awful news we are trying to raise funds in order to ensure that Sophia has the funeral that a princess really deserves, with that in mind we are hopeful that we can raise the funds as soon as possible.
I will be in charge of the funds until all the funeral costs are put together (which we currently estimate to be in the region of £4000+) and should make you aware that all surpluss donation money after funeral costs have been deducted will be donated to Birmingham childrens Hospital.
Please spread the word and post this message to as many people as you can to try and help us hit our target.
Thank you in advance for your kind donations.
Jake & Shannon opening Christmas presents for Sophia.
Please see the link below for more details of Sophias disease.
DonationsSee top donations
- Daniel Thursfield
- Sue Knott
- Cat Oliver
- Becky Scott
- Michael Van meir
#1 fundraising platform
More people start fundraisers on GoFundMe than on any other platform. Learn more
Expert advice, 24/7
Contact us with your questions and we’ll answer, day or night. Learn more