It’s trisomy 18 awareness month and recently been Rare Diseases Day, so I thought I would take the opportunity to share few patient stories.
Trisomy 18, also known as Edward’s Syndrome and Trisomy 13, Patau Syndrome are both dreaded diagnoses. A child with these syndromes has an extra chromosome at position 18 or 13 which leads to numerous congenital problems involving the brain, development and sometimes the heart.
Both are also associated with a very much shortened lifespan, and therefore when diagnosed antenatally, parents are offered a termination of the pregnancy. Two very unhelpful terms that have been used to describe the conditions, are ‘incompatible with life’ or ‘lethal’.
Pictured here is beautiful Atarah who turned 1 year old last week. She also happens to have Trisomy 13. As one would expect, her parents were counselled that the child wouldn’t survive long; they should expect ‘anything, anytime’. However, after about 7 months of fear and distress, while trying to live a normal life and enjoy their baby girl, geneticist who confirmed the diagnosis, but now explained that Atarah has mosaic trisomy 13 – not all her cells are affected, which means she has a less severe form of the condition.
On the other hand, baby Grace died last week at the age of 3 months. The Edwards Syndrome diagnosis came as a massive shock to her parents after she was born. They were also counselled that Grace would not survive long. They grappled, asking what does that mean? How should we manage her? Do we bother with the cardiology appointment knowing that in a South African state hospital, she will never be offered heart surgery if there is a problem?
No one can give an accurate answer. But gentle, honest discussion and good palliative care can help.
Baby S. is 9 months old today. She has developmental delay and visual problems but she is gaining some weight and is a happy baby. One specialist doctor that was asked to assess her told the mother bluntly, “there is not much point as there is nothing we can do for her anyway.”
So what do these 3 children have in common? Trisomy? A rare disorder? A syndrome?
Way more than their diagnoses, these three little girls have lived a life worth living and have brought joy and love to their families.
What about for us as healthcare professionals? These children help to teach us that we are not our diagnosis. Each of us is a unique individual with a story to write. That whether a life is 3 hours, 3 months or 103 years, it is still a life. And instead of trying to prepare parents for a child ‘that won’t survive long’ we can help parents to get on with the business of loving and living with their child.