The prognosis for people with CHD2 conditions
It can be difficult to predict the prognosis of an ultra-rare genetic condition such as a CHD2-related disorder because as yet so few affected individuals have been identified, especially amongst the adult population.
Additionally, the prognosis of a CHD2 related disorder is likely to vary widely: not all individuals with CHD2 variants will have the same clinical features.
Genetic Research in the UK
It is with thanks to two major UK genetic projects that numerous ultra rare disorders such as CHD2 were first identified. The aim of the Deciphering Developmental Disorders Study in 2010 was to find the genetic causes of rare childhood conditions, while the 100,000 Genome Project (2013-2018) sequenced the genome of over 100,000 patients with cancers and rare diseases. These projects created the largest genomic healthcare data resource in the world.
Over the last ten years, the increasing use of genetic sequencing for those with developmental disorders and epileptic encephalopathies worldwide has identified more than 65 rare and ultra-rare conditions such as CHD2. There are now over 300 registered cases of CHD2 worldwide. Our UK group comprises at least 40 individuals affected by CHD2 in this country, though we are certain that there are many more who have never been screened, or who have been diagnosed but are currently unaware of the UK group.
Prognosis in childhood
The majority of CHD2 related disorders usually present as early onset, difficult to control seizure activity within the first five years of life, although a small number of affected individuals may experience the onset of seizures in later childhood or teenage years. Prior to the onset of seizures, developmental milestones may be slow, learning may be delayed, and speech, language & communication may be affected. There may be autistic traits, sensory issues, and behaviours that challenge.
The onset of seizures, along with the use of (numerous) anti-epilepsy drugs (often with their own side-effects), can further lead to intellectual and developmental delays, and in some cases regression. This regression can often be reversed once seizures are well controlled and drug usage is kept to the minimum necessary.
During puberty, some families may find that seizures and behaviour worsen again, and this can be a difficult and challenging time for all concerned. This usually settles down as they become young adults.
Prognosis in adulthood
Adulthood usually sees a decrease and slowing of seizure activity and a settling down of behaviour and other symptoms. Seizures are more manageable and adults with CHD2 will often become more able to live their own life, living semi-independently in their own home with managed support.
Hope for the future
CHD2 related disorders are a lifelong condition which are currently managed rather than cured. However, there is a parent advocacy group known as Coalition to Cure CHD2 which has taken on the mission of raising awareness of this disorder and raising funds to fund research to find a cure.
“A number of researchers and pharmaceutical companies are either currently working on, or are considering working on or investing in, the development of drugs or precision therapies that may improve the lives of those living with CHD2, or that may even lead to cure for this disorder.”
Coalition to Cure CHD2 website
Our UK adults
Since genetic screening for this condition only really began ten years ago, there are likely to be many more adults with CHD2 within the UK and worldwide who have not had their whole genome sequenced and, as a result, have no diagnosis and are unaware that they have the condition. We feel it is important that these people are identified and supported.
Personal stories
We know of a number of adults within the UK who have a CHD2 disorder, several of whom are part of our CHD2 UK community. Here are some of their stories: