Genetic counseling is a crucial process for patients and families either at risk for a rare disease or have already embarked on a diagnostic journey for a genetic syndrome.
Right after the birth of my first precious granddaughter was born-the doctor recommended my daughter see a geneticist as the area above nose between her eyebrows was flat. As she grows so do my thoughts that she has Down syndrome-but when my daughter asked her paediatrician - response was she doesn’t need one. Physically I see many features of Down syndrome but don’t want to alarm my daughter
I know a diagnosis will not change the love we have for her and the incredible joy she brings us. But I think early diagnosis will lead to early intervention.