Undiagnosed Childrens Day

Soon, Edith will undergo the biggest operation she has had in her little 8 years of life. The last time she had a general anaesthetic she had a serious reaction to the pre-med that was used to keep her relaxed and she did not spontaneously breathe on her own following the procedure. No one expected this to happen (obviously) and having no diagnosis means you never really know what’s going to happen.

Today is Undiagnosed Children’s Day. Did you know that children who have no formal diagnosis are called SWANS? This stands for Syndromes Without a Name. Edith has undergone countless tests to try and understand why she presents the way she does, the biggest being a huge study called the ‘100,000 Genome Project’. This study looked at Edith clinical symptoms and then looked at all the genes associated with them to check for missing pieces - the results found nothing of note.

Most of the time I’m not troubled by the fact that Edith is officially undiagnosed. Since birth, Edith has only ever shown progression and I think this helps me a lot. However, it’s not always plain sailing and whenever she does something new that puts me on edge, I am constantly questioning what it could mean. This can be exhausting and incredibly stressful at times.Edith is non-verbal, tube fed and a wheelchair user. Her clinical symptoms are hypotonia, delayed myelination in the brain, distinctive features that most likely align with a genetic syndrome, learning disabilities, bilateral sensorineural hearing loss and low bone density.

Although being undiagnosed has and will continue to cause stress at times, Edith, overall, is a healthy little girl. A ray of sunshine with outrageously big hair and an infectious, cheeky personality mean that Edith leaves a lasting mark on everyone she meets!

Written March 2022