Our Story
Our little girl Shea was diagnosed with GATAD2B – associated neurodevelopmental disorder on March 23rd 2022, a day we will never forget. After months and months of pushing for answers seeking NHS and private medical professionals support 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.
Very little is known about GAND especially here in the UK where we live, with only one specialist in the world being based in LA, USA.
Diagnosis
We quickly became the experts on our daughter’s condition and joined the small online network of parents through Helping Hands For GAND, a charity based in America.
Shea was a happy but a very sicky baby, constant reflux and GERD, noisy breathing, choking on her milk, daily constipation along with missing all of her milestones. Shea had/has hypotonia (low muscle tone), she was also a “floppy baby” and it took a lot of effort for Shea to just open her hands.
We were constantly being told to wait by medical professionals until her weight dropped to ‘failing to thrive’ and for us that was pretty alarming. After months of pushing for answers we finally built up the right team to support us in getting Shea diagnosed and it was through Whole Genome Sequencing that helped find the answer.
Eventually we built up Shea’s early intervention team of Physiotherapists, Occupational therapists, feeding therapy, speech and language team along with developmental classes that enabled her to progress at her own pace (all therapies are still ongoing).
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.
Knowing Shea will always be vulnerable, that she will always have speech difficulties and not knowing what comes next with this life changing condition weighs heavy on our hearts.
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.
Rare disorders are often overlooked because of the lack of knowledge and awareness, too little numbers to fund research projects, meaning that there are currently no treatments for GAND.
We hope that with your support we can make a difference to our GAND community.
Please consider making a donation to support us in our mission.