My son was born with an extremely rare genetic disorder known as GNB1. It's a condition that has changed our lives significantly, and yet, finding answers or support in the UK has been a daunting challenge. Despite consulting numerous doctors and specialists across the NHS, we are still left without the crucial information and guidance that families like ours desperately need.

GNB1 disorder is not just a label; it's a daily reality for those affected. It impacts our children's development, motor skills, and overall quality of life. Yet, the lack of awareness and understanding about this disorder within our healthcare system means that many families are left navigating this journey alone, feeling isolated and overwhelmed.

The scarcity of information and support for GNB1 disorder is unacceptable. We urgently need comprehensive resources and specialist support for families grappling with this condition. It's crucial that the NHS recognizes the plight of families like mine and invests in research and training to better equip healthcare professionals to diagnose and manage GNB1 disorder effectively.

Investing in genetic research, increasing public and professional awareness, and creating a supportive network for affected families will not only benefit those living with GNB1 disorder but also future families who might face similar challenges. We need training programs for healthcare providers, educational resources for families, and a centralized support system within the NHS.

I believe that with your help, we can make a difference. By raising awareness among policymakers and healthcare institutions, we can bring about the change that is so desperately needed. Please join me in calling on the NHS and UK government to act urgently. Sign this petition to advocate for greater awareness, research, and support for GNB1 disorder today. Together, we can give our children the hope and understanding they deserve. 

because GNB1 is so rare no one know what the outcome is when a child or adult has it My Son Adam  he is 10 months old. At the 12week scan we found out he had 5.9  fluid under his head at the 12 weeks scan Adam was born full term but the minute he was born he was taken to the Nicu unit because he couldn’t breathe and the doctors didn’t know what the outcome was so they took him for a week. I didn’t hold My Son for 24 hours after having a C-section. The doctor told me to rest for eight hours. It took me from the minute. I woke up two hours to walk out of bed get into a wheelchair and get to that unit where My Son was as I also didn’t know what was happening

in the pregnancy you should be feeling happy little baby kicking and fluttering butterflies but me I didn’t feel not one kick  I was 24/7 in the hospital getting monitored In the end the hospital nurses and doctors turned around and said they will not be putting me back on the monitor because My Son is alive but he’s not moving so the whole pregnancy was a nightmare and I was afraid Adam was born at 38 weeks and slowly slowly he started having all these disabilities throughout his 10 months 

Severe hypotonia and muscle weakness 
* Severe developmental delay * No head control / unable to sit independently 
* Arthrogryposis 
* Club feet 
* Cortical visual impairment (CVI)  

* Hearing impairment
 * Extra fluid in the brain 
* NG tube feeding 
* Choking 
* Aspiration concerns 
* Vomiting / silent vomiting 
* Breathing difficulties 
* Frequent pain and distress 
*Cow’s Milk Protein Allergy (CMPA)
* Frequent hospital and A&E visits * 90% seizure risk according to his doctors 
* palliative care due to not knowing Adam’s outcome 
* Requires 24-hour care and support
 * Fundraising towards potential GNB1 gene therapy in Spain 
* screams in constant pain 

since Adam was taken home he has had over 450 hospital and home appointments and we still have not stopped. We still got so many yet to come

GNB1 is  so extremely rare that even the doctors don’t understand how Adam was born with one thing but slowly slowly he is getting diagnosed with different health and disabilities   

please sign and help family’s like mine to advocate for our  babies and other babies who need a voice 

 

Follow Adam’s journey on TikTok

adams_fight_against_gnb1  

thank you to everyone