My daughter, Poppy, is one in 55,000. She has a rare genetic condition called 18q minus syndrome, which essentially means she’s missing part of the long arm of her 18th chromosome. In Poppy’s case, she’s missing the very tip, known as 18q 22.3.
While many people know about having an extra chromosome, which is what happens in Down Syndrome, there are other chromosome arrangements that can cause genetic conditions too. A child can also be born with a re-arrangement, inversions, reciprocal translocations, and in Poppy’s case – a deletion.
What is a chromosome deletion?
When a child is born with a chromosome deletion, it means part of their chromosome is missing. This missing piece contains a different range of genes – and it is the genes that contain instructions on how a baby should develop. It is the lost part of the child’s DNA that leads to a child having a genetic condition.
Generally, 18q minus syndrome is the result of a new deletion but it can also be inherited with the parent in question only presenting very mild symptoms. Poppy’s was the result of a new deletion.
Sometimes, abnormalities can be identified at the 12 or 20-week scan, but with Poppy, both scans were perfect.
Are all cases of 18q minus syndrome the same?
No two babies born with 18q minus syndrome will be the same. While two children with the syndrome may have the same deletion point, their symptoms can be vastly different. There is such a wide variety of symptoms and signs of the condition, that each child’s ability will vary too.
Our journey to diagnosis
We received Poppy’s diagnosis of her chromosome deletion when she was 15 months old. At birth, there weren’t many signs apart from being a little slow on her reflexes, but the paediatrician on duty was happy with her response.
Although Poppy was developing well and sat up early at six months old, she hadn’t progressed since. I also noticed that Poppy was quite floppy and still had a head lag. She was unable to eat mixed textures without gagging, wouldn’t put any toys in her mouth and her bottom lip would hang showing her bottom teeth and gum. She would also go as stiff as a board with her legs crossed when laying down. While it looked like a seizure, we have since learnt that a lot of 18q children do this.
What 18q means for Poppy
Poppy is a very funny, cheeky and determined six-year-old. However, she is classed as globally delayed, meaning it takes her longer to reach certain developmental milestones. Developmental delay can either be short term, long-term or even permanent. She also has hypotonia, which is decreased muscle tone, which is why I thought she felt floppy when she was a baby. You can still see the hypotonia in Poppy by the way that she stands and when she is tired her head will still fall back.
One of the things Poppy struggles with is hypermobility, which is when your joints are more flexible than other people’s. She currently wears a splint on one leg to prevent her knee from going too far backward when she is walking, and can suffer from pain in her joints as they have to work extra hard to keep her stable.
It is very common in 18q minus syndrome to have hearing difficulties. 18q can cause very narrow ear canals or inner tubes that aren’t fully developed. Poppy has very narrow ear canals which can block very easily. She used to wear hearing aids due to glue ear, but in the last year Poppy’s ears have grown and the glue ear has drained.
Finding our way
Although Poppy’s diagnoses hit us hard and our life took a different direction, I came around to the mindset that nothing was impossible.
Poppy attends a mainstream school and is thriving. She can read, write her name, loves mathematics and, most importantly, has lots of friends. Poppy has a wheelchair but can walk short distances now with adult support for safety. Poppy can communicate her wants and needs very easily and uses Makaton to support her language when required.
My journey as a mother is not as I dreamt it would be, but I truly feel blessed to be on the journey I am on. This journey has taught me so many things, from mindfulness, to really appreciating the little things in life that can so easily be taken for granted. Life is full of unexpected journeys, but life should also be embraced.
To read more by Michelle, check out her blog. And to find out more about 18q minus syndrome, check out this helpful document by the charity Unique. To find other parents who have children with similar health conditions, download the Friendili app for iOs. Android coming soon.