What is 18q minus syndrome?
Updated: Aug 19, 2020
18Q Minus Syndrome
I fell pregnant with Poppy in January 2013. My 12 week and 20 week scan were both absolutely normal with no concerns. After a fairly easy pregnancy Poppy entered the world on October 28th (her due date) weighing a healthy 8lb 6oz.
Poppy’s birth was reasonably straightforward. When I arrived at the hospital I was already 8cm dilated. It was noted that there was meconium in my waters, so once my waters were broken Poppy arrived within ten minutes. I remember the midwife asking me if I felt that Poppy was a little floppy when I held her but at the time nothing felt out of the ordinary.
Once we were on the ward I remember looking through my notes and reading at least eight anomalies about Poppy and her appearance, no one had discussed these with me so I assumed if they weren’t worried than I shouldn’t be. Ward rounds began and Poppy has her reflex test, she didn’t react, this was possibly the first sign that something wasn’t quite right. The paediatrician followed up Poppy’s tests, this time Poppy did react although a little slowly but the paediatrician was happy.
Two weeks later we returned to have a minor tongue tie cut and Poppy passed her 6 week check up with the doctor. I did question the doctor about Poppy’s exceptionally large soft spot (it was nearly the size of half of Poppy’s head). The doctor reassured me at the time this was absolutely normal.
As time passed by I grew more concerned about Poppy’s physical development and that she still had a head lag at 12 months old. I was also still concerned about Poppy’s soft spot which was still present, although a little smaller.
After many appointments the doctor gave in and referred Poppy to the hospital.
The last words the paediatrician said to me at the end of that referral appointment were to be prepared for the blood work to show a condition.
February 2014 my world briefly fell apart as the words your child has 18q minus syndrome were spoken. I will never forget that moment as time briefly stood still and I felt increasingly sick. The rest of the meeting was a blur, my precious baby had a condition, a condition that meant no one could tell me how Poppy would or wouldn’t develop.
18q minus syndrome is a rare condition where 1 in 55,000 babies have a chance of being born with. 18q minus syndrome is a chromosome condition that occurs when a piece of the long (q) arm of chromosome 18 is missing data that our bodies require. 18q minus syndrome presents itself differently in each child. Poppy is classed as globally delayed but she is doing amazingly well and is consistently smashing targets and expectations.
To give you an idea of Poppy’s development, at 14 months she could sit up but couldn’t roll over or sit up from being on her tummy. Poppy wouldn’t put any toys or beakers in her mouth and would go very limp when being held.
My mindset with Poppy, is that 18q will be a part of her life but it will not define her. Just because Poppy couldn’t move didn’t mean she couldn’t think or have thoughts.
I would take Poppy into the kitchen to independently make her own choices on foods and snacks. I was her legs to explore the world until she became mobile.
By 15 months Poppy could bum shuffle and we spent many months on the floor independently moving her arms and legs in the crawling position. Poppy’s physio was adamant she needed to crawl as it builds up upper arm strength which is required for writing.
Eventually Poppy began to crawl and our front room became a physio therapy room. All the natural stages of development followed until, when just after 2 years of age, Poppy took her first steps, followed by lots of happy tears!
Many therapies have been and gone with the therapist often becoming a friend. 18q has left Poppy with a range of delays such as speech and physical strength. Poppy also has sensory processing difficulties, hyper mobility and hypotonia. She is a wheelchair user and has a specialised chair at her mainstream school, YES!! Mainstream school.
BUT like I said 18q does not define Poppy and I don’t like to focus on what she can’t do but what she CAN do.
Poppy can walk small distances, kick a ball, jump up and down but most importantly Poppy loves to dance.
Through using Makaton, Poppy was able to understand that language had a purpose and can now express herself using upto a 6 word level sentence. Please do not underestimate the power of visual aids such as using Makaton. It takes our brain more time and energy to process words than it needs to process visual instructions. Poppy can read a wide range of words and currently reads age appropriate books. She can count upto 30, count to 100 in tens, subtract and add numbers, name most shapes, numbers and colours. Poppy loves role play, playing hide and seek, she can also understand simple instructions. Communication is her biggest barrier but imagine a world where all pre-school children were taught a few basic signs!
Poppy is a loving, caring and intelligent six year old with the most infectious laugh. Once met, Poppy is never forgotten. She has taught me so much about life and it really is the little things in life that are worth so much more.
Poppy you are my sunshine on a cloudy day and my shining star on those dark days.
we love you to the moon and back.
If you would like to read more about Poppy please visit our family website a-mothers-instinct.com