I’ve had a bad day with Poppy today. A sentence I’ve been using for the last few weeks, months, years.
Through the newborn feeding, the toddler tantrums and still now at 9 years old.
I mentioned when I introduced our kids that I would write about Poppy and today feels like the right day.
Poppy has a gene mutation. At conception what should have been a circle came out as a square but on a microscopic scale. One small, fluke change in her DNA.
PPP2R5D is the effected gene. Less than 100 known cases worldwide.
Poppy was diagnosed with this in the spring of 2015 at 6 years old through the Deciphering Development Delays research.
Previous to the diagnosis she went through lots of testing, assessments and therapies but we were left with no answer.
The result of a mutation on this gene varies slightly but in Poppy’s case –
Global development delay – means a delay in all areas. Poppy was almost 3 before she walked and around 4 before we were hearing recognisable words.
Hypertonia – low muscle tone, meant for a floppy baby and a toddler who’s legs could not hold their own body.
Sensory issues – Poppy’s biggest sense problem is noise always has been. Alongside tactile sensory needs – touch
Low intellect – Poppy has been in the education system for 6 years. With lots of support she achieves things but she is still learning to read and write at a pre school level.
Sleep problems – A 9 year old creeping into our room every night. Enough said.
Behaviour issues – A combination of the above and Poppys senses being out of whack result in tantrums. Normally long, noisy ones.
Other children also have seizures and their physical and mental disabilities vary.
Izzy and leo are what we call typically developing kids and are along for the journey with us. They look after Poppy, play with her, cuddle her, involve her, love on her and watch out for her. I hope we are bringing them up to always do this out of love for Poppy. They are certainly very caring and sensitive because of their sister.
Poppy has something about her that lights her up, I can’t quite describe the effect she has on people but if you know our Poppy you’ll understand. Rob and I always say her super power is empathy. She is so intune with people’s emotions she’ll know without a physical clue that your sad, happy or mad! She is silly, her tongue has a mind of its own and her favourite phrases are “don’t you know it” and “buy me a baby please” (Even though she has around 20 already!)
I’ve wrote this post so people who know us, see us around or just follow my blogs can get a little understanding of our life. Social media and edited photos don’t show the full picture.
If anyone would like more information on PPP2R5D mutation – now called Jordans syndrome there are pages on both Facebook and Instagram. Featuring lots of other kiddos just like Poppy and all the achievements they make and the research going into this syndrome.