Due to the rarity of CDKL5 disorder, very little is known about long term prognosis and life expectancy. Most of those who have been identified are under 18 years of age and it is often difficult to identify older children and adults due to the frequent lack of complete infant and childhood developmental records and genetic testing in this older population. However, we know that there are adults living in the their 20's, 30's and even 40's. We also know of identical twins living in Europe that are believed to be in their 50's.
What is important however to note, that like any condition that effects the multiple systems in the body as CDKL5 disorder does, there is a higher possibility of loss of life due to the epilepsy syndrome, and other factors that contribute to respiratory and gastrointestinal problems/failure.
We know from our various social media groups that a number of younger children have died in the last couple of years and this has been predominantly due to either respiratory failure due to pneumonia, or complications in respect of gastrointestinal problems. Two or three children have died unexpectedly most likely to due to Sudden Unexpected Death in Epilepsy.
It is hoped with the introduction of more rigorous testing of this population of children and adults that are currently living without a diagnosis and also with the introduction of a comprehensive natural history that in time we will be able to estimate more accurately what the life expectancy of those living with CDKL5 disorder is and be able to develop care pathways which may help to reduce the number of deaths.