Gráinne B.

12 Years Old | Co. Kildare,
Ireland

About This Superstar

Age of Diagnosis
9

Finding A Diagnosis:
Gráinne is our only child. She is now 12 years old. The first time we suspected anything was when she was about two years old and a developmental check indicated she didn’t have as many words as she should have. We thought nothing more of it as the nurse wasn’t overly concerned. Up to that point she had reached all of her milestones albeit she walked a little late at 18 months.

By the time G reached 3 we had a different concern. She had started this odd hyperventilating behaviour which took us to the GP and then on to the paediatrician. Then commenced 7 long years searching for an answer, she went from possibly being autistic to having dyspraxia, to cerebral palsy to a clinical diagnosis of early onset cerebellar ataxia to a final definitive diagnosis of atypical INAD PLAN in late 2019.

That diagnosis only came about by chance really following a conversation with a therapist that was treating G which then led us to a whole genome study. G in that time has regressed from being able to walk, talk, feed herself and draw to not being able to do any of those things but despite all of that she is the happiest child and amazes us every day with her courage and resilience, she is our whole reason for being.

We try not to think about the future and take life one day at a time. It is great to be a part of the INAD/ANAD community and to hear and be able to relate to other people’s stories across the world. As far as we know G is the only with this disease in Ireland. Like everyone else we dream of a cure to save her life.

How INAD Has Impacted Their Life
Gráinne has regressed from being able to walk, run, jump, stand, feed herself, hold cups, utensils or even being able to pick things up to not being able to do any of these things anymore. She now uses an electric wheelchair and needs assistance with all daily activities. Her speech has rapidly deteriorated of late also to the point where we now struggle to understand her. We are engaging with assistive technology now to support her communication.

Favorite Activities
G’s favourite activities are being read stories, drawing and writing in her laptop using her joystick, swimming, eating ice cream and having a laugh with her family and friends.

Favorite Foods
Ice cream
Chips
Pizza
Spaghetti bolognaise
Garlic bread
Bacon and cabbage

Favorite Television/Movie Character
Peppa Pig without a doubt

Favorite Books
Peppa Pig and Judy Moody

Parent’s Favorite Motto or Expression
Live for today.

What They Would Like the World to Know About Their Experience Living with INAD
Think of all the worst diseases you can think of, lump them together and that is what life is like for a child with INAD/ANAD who is coming close to the end of their lives. A cure is so close. You can help stop the suffering of these angels and their loved ones. Please give $7 or more and help us beat this disease.

Special Fun Facts
G has two cats, Sooty and Schwitz and two goldfish called Mary and Eileen. She loves her Aunty’s dog Buddy