February 29th is Rare Disease Day. Barnsley Football Club would like to raise awareness and generate change for 300 million people worldwide living with a rare condition, their families and their carers.
This year we would like to highlight a very rare condition called GAND Syndrome. There are approximately 355 people diagnosed in the world with about 35 of those being in the UK.
Reds fan, Rebecca and husband Brian Carney are sharing their story and turning their pain into purpose by creating GAND AID UK, an approved charity to raise awareness for this rare condition.
"We have 2 daughters our youngest little girl Shea was diagnosed with GATAD2B – associated neurodevelopmental disorder (also named GAND Syndrome) on March 23rd 2022, a day we will never forget.
"After months and months of pushing for answers, seeking support and feeling extremely desperate knowing something wasn't quite right. We finally had an answer to all of our questions and worries when Shea was 22 months. Shea was about the 240th person diagnosed with GAND in the world. After many tests, it was only through a Whole Genome Sequencing test that finally identified the condition.
"Shea was a happy but a very sicky baby with constant extreme reflux, noisy breathing, swallowing and feeding difficulties, daily severe constipation along with missing all of her milestones. Shea has hypotonia (low muscle tone), she was a “floppy baby” and it took a lot of effort for Shea to just open her hands and lift her head.
"Very little is known about GAND here in the UK, we hadn't heard of it and neither had any of the medical professionals. We quickly became the experts on our daughter’s condition and joined the small online network of parents where we found one specialist based in the USA.
"After directly contacting the medical expert, we now understand that our daughter will require constant therapy for speech and physio and need life long care and support. As a mother, knowing how others felt, searching for answers and help, our heart ached for families that are struggling mentally, physically and financially, and it was then that the charity GAND AID UK was set up to support others.
"Knowing Shea will always be vulnerable, that she will always have speech difficulties, and the not knowing of what comes next with this life changing condition weighs heavy on our hearts. However, we are determined that our family and little girl remain happy, that we take it one day at a time and that we as a family do our very best for the GAND community going forward.
"Rare disorders are very often overlooked because of the lack of knowledge and awareness, too little numbers to fund research projects meaning that there are no current treatments for GAND. But, we are determined that our family and little girl remain happy and we as a family do our very best for the GAND community going forward. We hope that with your support we can make a difference to our GAND community.
"Shea is an amazing little girl full of character and loves life. We are hopeful that Shea will remain a happy little girl and by having a very supportive team in place will enable Shea to live her best very fulfilling life. We want this for all patients living with GAND."
For more information on GAND, our events coming up or to make a donation please visit www.gandaiduk.org or follow our journey on instagram: @gand_aid
