Our CHD2 son is now aged 21 and has for the last year has been bossing us around in our own home: making decisions about who should be in what room…
Moving towards independence
Is it OK for children with a CHD2 diagnosis to take multiple anti-seizure drugs?
Should parents worry when their child has been prescribed multiple anti-seizure drugs? The answer probably depends on which ones. This post explores how each of a number of popular drugs…
CHD2 Prognosis in the UK – do we have the whole picture?
As a co-founder of the CHD2 UK support group, I was becoming increasingly aware that many of our new families with recently diagnosed CHD2 children were having difficulty coming to…
Medication Side Effects – Keppra (Levetiracetam)
It was so hard without genetic testing for us, my son, Elias aged 36 years almost killed himself under Keppra. In the first week of introduction of this anti-seizure medication…
Children’s social care: a parent’s perspective
According to advice on the Contact For Families With Disabled Children website, "the law says that councils must assess every child who is or may be a child ‘in need’.…
Homework
I used to battle with Kerry to do homework and then questioned what for when it was too difficult. I spoke with her teacher at the time and said if…
So you have been diagnosed with a rare genetic condition – what next?
It has taken 13 years for my son’s ultra rare genetic medical condition to be diagnosed. Unfortunately for many parents and carers, they’ll never receive a diagnosis and that must…
Welcome to CHD2 UK
Mutations and deletions on the CHD2 gene can lead to epileptic encephalopathy, characterised by frequent epileptic seizures, intellectual disability, autism and autistic behaviours. The effect of de novo mutations on…