Ataxia Telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodefiency. Together with the Dutch A-T community we investigated the opinion of A-T parents about an early A-T diagnosis in the asymptomatic phase of the disease, which could be an incidental finding during SCID screening with TRECs.
During an annual national meeting for A-T patients and families an update is given about recent developments in the field of A-T research. The topic of an early A-T diagnosis was discussed in relation to TREC screening for SCID. Based on these discussion individual arguments were identified and processed into a questionnaire, which was send out to 64 A-T parents (32) families. Arguments included in the questionnaire were: insecurity to diagnosis, possible medical advantages, prenatal diagnostics for possible brother/sister, loss of ”golden” years and early cancer screening for parents.
The response rate was 55% (n=64). 25 (71%) parents think the advantages outweigh the disadvantages, 5 parents think the disadvantages outweigh the advantages and 4 parents did not indicate a preference. The majority of parents of A-T patients prefers an early diagnosis of A-T shortly after birth of the child.
The majority of parents of a child with A-T prefer an early diagnosis, because the uncertainty during the diagnostic process has a major impact on their lives. In addition, the knowledge of being both carriers of an ATM mutation influences the decision about further family planning. Parents who oppose against an early diagnosis emphasize the joy of having a seemingly healthy child until diagnosis.