0
North Ireland
9 years old
September 4, 2019

Bethany

At 4 months, we noticed Bethany wasnt focusing and by the age of 1 hadn't met any milestones. She was struggling to feed, at 18 months she had a mri which told us she had extra axial fluid round brain and hip dysplasia and needed surgery. At the age of 2years and 9 months she started having seizures. Bethany was admitted to the hospital and was diagnosed with epilepsy. She was put in a genetic study and in summer 2013 she was diagnosed with Syngap1.

Syngap1 has caused Bethany still at the age of 9 to have no speech, no mobility, Epilepsy, she is tube fed, sleep issues, behaviourial issues, hip dysplasia, kyphosis, scoliosis, motility issues, lacks vit D, Nystagmus, bowel issues.

Bethany is the most determined, strong willed child and when not frustrated and angry, she has an amazing personality, contagious laugh and beautiful smile.

Every day is challenging, Bethany is clever but gets frustrated and lashes out or can be pale, lethargic and just want cuddles, she switches from one extreme to the other with no warning.

Bethany loves water, music and people, she has therapies daily, a lot of medicenes  and needs 1-1, 24/7.

Bethany has an older sister and younger brother but unfortunately there is no relationship between them because of Bethanys behavior. As parents, this  saddens us and we tend to have to split the children.

We have learnt so much from Bethany and are privileged that she is our daughter and will strive to do anything to help and make life easier for her.

We Need Your Help

We can use your help to raise awareness about SynGAP1.

© Copyright  2018-2021 Syngap Research Fund  | All Rights Reserved | 
Privacy Policy
RegistryNewsletter
0