» Diagnosis
France leads the way in questioning diagnosis and how best to tell parents
Learning that your child has CdLS is a memorable moment. How the diagnosis is made can determine how a family prepares for the news and for the future. President of the French CdLS Association, Danielle Lucas-Snakkers, whose daughter Hélène has CdLS, led a study to investigate the issue.
- By Christine Saunders
| Breaking the news to parents... not easy, but can it be handled differently? |
She wanted to know the circumstances of when the news about CdLS was broken to the parents: where, when, who was present and the manner in which the doctor presented the information.
She also asked parents to speculate on how they would have changed these circumstances.
The rapidity of the diagnosis of CdLS seemed to be in correlation with the degree of apparent severity of health problems.
The child of one respondent was not confirmed until the age of 11.
The majority of parents were informed whilst together, but a third of respondents were informed whilst alone, or only with their child.
Commenting upon the manner in which the diagnosis was given, only three families considered this to have been positive:
“There was lots of guardedness, kindness and understanding. The diagnosis was made gradually in acknowledging their ignorance and the lack of known cases in order to make suggestions. The doctor remained rather positive. He freed us from all guilt immediately.”
“The future was presented in a positive light, without being over-optimistic regarding what our child would be able to do, emphasizing the non-degenerative aspect of the syndrome.
Careful attention was paid to passing on a message of hope.”
Others were less fortunate, receiving a diagnosis couched purely in medical terms, or a negative prognosis:
“This would be a child with lots of problems and that she would probably live until the age of 3.”
“He will not walk, he will not talk.”
“It will be a black future for you,” one mother was told.
Rather than analyse how the diagnosis was pronounced, Danielle thought it more positive to allow parents to express what they would have expected. These she quotes verbatim:
1. “more details (probably unknown...) and how our child would develop.”
2. “A more finely-tuned diagnosis because J... was treated as something inert, with no hope, which is far from being the case now.”
3. “I would have liked to have been told everything, and everything favourable, but despite being anxious and unhappy, I was capable of understanding. I knew that I... had something incurable, serious, and that all my life I would have the enormous worry of a child who as different, with uncertain development and future.”
4. “Despite the terrible moments of anguish when faced with J...’s uncertain future, I think that I was able to evoke positive images about her in the absence of a diagnosis and of knowledge of CdLS, since she is only very slightly affected.”
5. “In several phases and accompanied by a psychologist and a geneticist well-informed about CdLS.”
6. “As soon as the diagnosis is made, the family should be put in contact with the association (this is a great moral support in facing up to this challenge).”
7. “Knowing the day of my child’s birth, indeed even before, so as to be better prepared for the future.”
8. “That the condition be explained to the child, even if he is very young.”
9. “I don’t know if a psychologist could have “sweetened the pill”. You know how special children are difficult to bring up because they demand a lot of time and you are constantly asking yourself “Is enough being done?”
10. “In the presence of a psychologist, sitting down and a longer and more reassuring conversation, giving me addresses, contact numbers and a home help for at least three months to give me a chance to cope. Psychological follow-up at home would have stopped us closing a number of doors.”
11. “The uncertainty of the knowledge of CdLS helped us to avoid a brutal shock. The diagnosis was made minimising M...’s case.”
12. “With a little more diplomacy, gentleness and insight.”
13. “We would have liked a prior announcement which was less evasive and in greater detail, less “neutral” too. We deplore the lack of competence of health professionals as far as how to behave after announcing the diagnosis: What can be done? Who to contact? Where to find out more?”
14. “I don’t believe that others could have diminished our pain (and it is well known that the medical establishment doesn’t become emotionally involved). Our family and friends knew how to be there for us.”
15. “In any case “you don’t hear a thing” during the announcement. It should be made without the child being there and on several occasions.”
16. “Not in Special Care Baby Unit with my son in my arms and other parents around.”
17. “ The fact that the announcement was exact and sudden seemed positive to us. We would have liked to have known from the beginning the more commonly associated complications, notably gastro-oesophageal reflux, which would have helped V... to escape a year’s suffering and of hating to eat.”
18. “It is a painful subject which was always going to give us pain, and the doctors are aware of this. They chose the right tone and words, I believe. I think that the most important thing is to be supported, and that was the case.”
19. “A less medical explication, and a less harsh prognosis, more adapted to individual circumstances. A doctor who is closer to the parents.”
The variety of responses indicates the difficulty faced by professionals giving a diagnosis to parents.
In France there is a ministerial directive dating from 1985, intended to make professionals in maternity hospitals more aware of the need to improve conditions of pronouncing the diagnosis as “the manner of communicating the diagnosis is instrumental in the future of the child and the family.”
Despite these recommendations, the reactions of parents can be ambiguous, including feelings of anger against the doctor concerned. Parents may reproach doctors for not giving them full information about their own future and that of their child, but as Professeur Marie-Louise Briard comments: “Frequently, in the case of genetic conditions, families want us to be able to tell them their future as if in a crystal ball!”
Knowledge of statistics regarding possible future development of the child doesn’t necessarily make it easier to cope:
As part of her study, Danielle describes in moving detail her own experiences from undergoing an amniocentesis (being aged 40 at the time of her pregnancy in 1986) until confirmation that Hélène, her daughter had CdLS.
This was not mentioned until Hélène was nearly two years old and until then Danielle struggled to build up her daughter’s weight, contending with her own feelings of failure and not wishing to face up to reality.
An osteopath worked on Hélène’s face, as it was not realized that the shape of her face was part of the condition.
She describes meeting friends with a baby the same age as Hélène but whose development was normal: pretending to be delighted in the other baby’s progress, trying not to feel resentful, hiding their own pain. The other parents, proud of their offspring, could not understand.
This section of the study is addressed directly to her daughter: “we know what you’ve been through, reading it is a different matter, it all becomes real.
“It will take me a while to cope with this information. You have the long curly lashes which everyone admires. I feel uncomfortable when people pay you compliments on them.”
After trying various forms of therapy, including intensive stimulation, Danielle received some information on CdLS from the United States, including a photograph: “Beneath my eyes I have the proof from which I’ve fled all these years. The photo of this child could have been the picture of our daughter at the same age. My daughter is a carrier of CdLS, but she is Hélène, and she is unique.”
Many parents spoke of the problems of denial, refusal and acceptance. Danielle describes how her own rebellion gave a force to her life: “I cannot envisage suffering as redemptive. I don’t want people to tell me, as some have done, that special children make those around them better people. That is too high a price to pay.”