Ellie was born with the very debilitating H-ABC Syndrome (Hypomylineation with atrophy of the basal ganglia and cerebellum) with secondary dystonia which is associated with the syndrome. At the time of her diagnosis she was only the 22nd person in the world identified with H-ABC. When Ellie was born she showed no symptoms of any neurological condition however as time progressed there were subtle signs that something was not right.
Thus started the journey of endless tests and on the 16th March 2012 we were given the worst news, our whole world was shaken. Ellie had a PROGRESSIVE neurological condition. The fact that it was so rare made our journey even scarier as no one knew what to expect, the future was unknown. We began to attend endless appointments for physiotherapy, speech and language and occupational therapy. Ellie attended these without complaining and she worked as hard as she possibly could.
However, despite all her efforts, on the 9th March 2016 Ellie lost her long and heroic battle. Ellie was just 8 years old.
There are no words to explain the grief after the death of your child whether expected or not. The pain and heartache felt are immense. Numbness and severe anxiety become a part of everyday life. There is a real fear of going outside the door and meeting people unable to explain these feelings.
A few months after Ellie gained her angel wings we were very lucky to have experienced a short break at Alice’s Escapes in Cumbria, a charity which also offers respite breaks for families. We as a family really enjoyed the escape (as well as we could under the circumstances). The fear and anxiety lessened even if it was just for those few days. Life seemed a wee bit normal and this is where the idea for “Ellie’s Retreat” was born. The aim of “Ellie’s Retreat” is to help families like us and keep Ellie’s memory alive.
Ellie’s Retreat offers free respite for families who have lost a child. It offers a place to escape and have some anonymity, space and time together with the other members of the family. It will hopefully be a step forward in the healing process. Ellie’s Retreat is a safe haven for families like us, offering week or weekend breaks.
Ellie was such a brave, courageous and inspirational little girl and she touched the hearts of all those she met. We were very privileged to be her family and we now have the privilege of helping others in Ellie’s name.
We also will continue to fundraise for H-ABC research so that no other children have to suffer as Ellie did.
H-ABC. Leukodystrophy RESEARCH
H-ABC (Hypomylineation with atrophy of the basal ganglia and cerebellum) syndrome is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and worsen over time. Severity of symptoms and rate of progression can vary. Symptoms may include delayed motor development, learning difficulties, dystonia, rigidity, involuntary movements, and speech and swallowing problems. It is caused by a mutation in the TUBB4A gene. It is not a condition inherited from a parent.
When Ellie was diagnosed she was 22nd in the world with the condition, as of 2016, there were still as few as 71 cases worldwide. However this number is continuing to rise as the faulty gene has been discovered.
Dr Vanderver, Children’s Hospital of Philadelphia,(CHOP) has already started exploring gene therapy with the aim to find and or replace the defective gene. The process to find a cure will take time and is costly but we will continue to support.
Unfortunately there is no cure for H-ABC , only quality of life can be improved with medication. However, research is being carried out to find a cure and we have been supporting this so no other families suffer.