Undiagnosed Children’s Day 2020…

Today is Undiagnosed Children’s Day. Did you know that children who have no formal diagnosis are called SWANS? Syndromes Without A Name.

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.

Having an undiagnosed child can mean a tonne of medication, unexplained seizures, pain or even developmental regression, to name a few. It’s having no prediction of what the future may be; good or bad. I have friends whose children have very rare syndromes of which they share with a few others in the world. What’s fascinating is that even though the syndrome that these children have is so rare, they have some distinctive similarities which parents can discuss and share with each other. We don’t have that.

Back in the summer of 2016 our bloods were taken to look at some of our genes to try and find out what gene may be causing difficulties; three years later the results proved inconclusive. This is an ongoing project though, so one day they may revisit the bloods and be able to give us an answer as more science becomes available. All the research that is done into diagnosing Edith is based on symptoms. Edith’s main symptoms are:

Hypotonia – A common symptom for many syndromes, which means she has very low muscle tone. This means Edith has to work a lot harder to do physical things. This also means Edith has a an unsafe swallow which is why she is fed by a tube.

Brain malformation – Edith’s white matter in the deeper parts of her brain is either very sparse or non-existent. The white matter is the bit that sends the messages; the wiring to your computer if you like. However, this has not changed in appearance since birth which means it’s not disappearing or changing as far as we are aware and Edith’s clinical signs confirm this.

Distinctive features – Edith has (in medical terms) a protruding forehead, low set ears, high palate, a strawberry birthmark, a Mongolian blue spot (a rare birthmark not usually in Caucasian children), single palm creases, a pectus excavatum (a dipped chest) and a crossed over digit on her left foot.

Learning disability – Edith is unable to communicate in a conventional way. She will probably always need a specialist way to tell us what she needs. We have always believed Edith takes in a lot more than she can give out. She has limited understanding and always needs things to be adapted and broken down for her.

Bilateral high pitch hearing loss – Edith had sensitivity and heating loss in both ears. She needs hearing aids when this pandemic is over.

All of these things are indicators that Edith has an underlying genetic syndrome.

For all her issues, Edith is healthy. She takes very little medication and is not in any pain that we know of. She continues to make slow and steady progress and loves to surprise us with what she can do and understand at times. She is happy (most of the time) and seems to be at ease with the world around her. We cannot change the difficulties she faces but we can be grateful for those that she doesn’t have to face.

Thanks for reading x

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