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 terms with, not particularly the diagnosis, but the prognosis of this condition.
It had taken 12 years to receive my son’s CHD2 diagnosis (in 2017). During the time when you don’t know exactly what it is you are dealing with and have no idea of the future, you can remain hopeful that there will be a positive outcome; but gradually over time all those dreams you have for your child’s future slowly and almost imperceptibly slip away.
Today, the diagnosis and likely prognosis arrive at the same time for our families and if you asked me which was easier to accept – a slow ‘drip drip’ of realisation or a gut punch? – I just wouldn’t know.
Recently a research paper was released which attempted for the first time to establish a prognosis for CHD2 adults. It led to a great deal of discussion, upset and on occasions anger by families of those with younger children and teenagers diagnosed with this condition. The upshot of the research was that in the majority of cases (and this was an extremely small sample of 14) these adults ended up in managed/supported living environments, albeit often having a good and, in many cases, fulfilling quality of life. However, many families with younger children felt that their young child was likely to have a more favourable outcome/prognosis.
For those families with children diagnosed almost ten years ago and now with young adults the outcome of this report felt exactly what we expected as being the prognosis (with a sigh of relief that it wasn’t worse), particularly since our young adults had similar characteristics and needs to those being described in the report.
But are we comparing like for like?
It is important to remember that prior to 2013 anyone with a CHD2 mutation would not have had a diagnosis since it had not been genetically identified before then. In the majority of cases those families still do not have a CHD2 diagnosis and so are unknown to us and unknown to medical researchers. We are inevitably missing a significant quantity of data.
It is also important to consider that it was only when the Deciphering Developmental Disorders (DDD) genetic screening project started in the UK and, later, the 100,000 Genome project, that geneticists recognised and started to identify those affected with CHD2 in the UK. And it was those children with the most serious and most noticeable/obvious characteristics that were being selected for investigation by these projects. These are the ones who have now entered adulthood (like my son, now 21) and their needs are now perhaps understandably more complex, just as their condition was at a younger age – hence needing supported or managed care in adulthood similar to those in the research report.
Are we therefore overlooking a cohort of CHD2 children and adults with lesser characteristics and less severe symptoms, perhaps with just developmental delay, or mild / subclinical epilepsy, or even just autistic-like traits? These individuals wouldn’t have been selected or identified for genetic screening over ten years ago.
In the majority of cases, the people diagnosed with CHD2 in the first ten years or so of the genetic screening projects presented as having early epilepsy and development delay. Now it is becoming clear that as genetic screening becomes more common and more widely used, more individuals are being diagnosed who are affected less severely and who exhibit milder symptoms. Some are even being identified by accident whilst genetically screening for other conditions. In the last five years it is becoming more apparent that those with CHD2 mutations can have epilepsy which starts later in childhood and sometimes even in early adulthood, and developmental delay isn’t necessarily so profound.
Do we only have part of the picture here? Is the CHD2 prognosis just as much dependent on factors such as severity of the condition at an early age, or even having better seizure control during childhood. We simply still do not have all the necessary data and that is why it is so important to participate in Natural History Studies.
Isn’t it logical to think that there must be a section of the CHD2 community as yet undiagnosed? These are the people that have some symptoms but have never been genetically tested, either because they were already adults when those initial screening projects began, or because their symptoms were less severe so they weren’t put forward for screening. If we were to genetically screen this missing section of our CHD2 community might it indicate that many CHD2 individuals in fact have a more positive prognosis than the research currently suggests?
To those families who are now receiving the CHD2 diagnosis for their young children, don’t panic: the current prognosis may not be entirely accurate and until we have a consistent genetic screening process for everyone presenting with characteristics such as developmental delay, epilepsy and autism conditions, singly or jointly, we won’t know for certain.
Add into the equation the amazing research currently taking place with Coalition to Cure CHD2: and the future is so much more positive than it ever was ten years ago, or even than it appears to be today.
However, don’t ever stop striving for the best for your loved one, even in adulthood. It is clear that those CHD2 adults now in supported living environments have demonstrated a remarkable ability to continue their development and life skills into later years and live happy and fulfilling lives.
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