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Ever since Ella was first diagnosed with Prader-Willi Syndrome, I keep finding myself looking back on that long ‘checklist’ of symptoms/issues/challenges. Here’s a non exhaustive list for you to skim, to give you some idea of what I’m referring to:

  • chronic hunger/hyperphagia
  • low muscle tone/mass and high body fat
  • slow metabolism
  • distinct facial features
  • global developmental delays
  • mild to moderate intellectual disability
  • speech problems
  • delayed motor skills
  • behavioural problems including anxiety and mental health disorders
  • obsessive compulsive and repetitive behaviours
  • skin picking
  • incomplete sexual development / hypogonadism
  • endocrine problems/hypothyroidism
  • respiratory issues
  • short stature
  • small hands and feet
  • scoliosis
  • hip problems
  • feet problems
  • sleep disorders/sleep apnea
  • teeth erosion and reduced saliva flow
  • vision problems/Myopia
  • issues with regulating body temperature
  • high pain tolerance
  • hypopigmentation
  • sterility
  • osteoporosis
  • obesity related complications

To date, we have experienced about 90% of the above in varying degrees.

There were two in particular that I was most anxious about though (not to discount the impact of the other symptoms listed, because to be honest I find every one of them to be upsetting).

Chronic, insatiable hunger. For some reason, this one caused me the most angst. Food seeking… what age will it start? How are we going to lock the cupboards and fridge? How am I going to sleep at night knowing that’s when they often sneak food? How am I going to say no to a hungry child? Surprisingly, we haven’t yet experienced any of this. I almost feel ‘lucky’! Not to say there haven’t been times when she has sneaked food, it just hasn’t been consistent enough for me to think it’s really happening. However, the fear is still there… and I often find myself thinking it can happen any time.

The next was behavioural problems. Probably because it encompasses so much – anxiety, mental health and psychological issues, temper tantrums/meltdowns, oppositional, rigid, manipulative, possessive, obsessive-compulsive disorder (OCD), repetitive behaviours, recurring thoughts, excessive skin picking…

I think I thought I could handle most of what this syndrome threw at me, provided Ella stayed her sweet, beautiful self.

Adolescence and PWS

Ella started high school this year and she was beside herself with excitement before the school year began. We were nervous, but felt reassured by her excitement and the fact she would have her older sister in year 12 with her for her first year.
High school is a big change for any kid, let alone a child like Ella. Larger school, so many more teachers, classrooms, new subjects, bigger kids… and for Ella personally, add to that less friends, nobody that could understand her (literally, due to her speech issues) and a whole lot of anxiety.
For the first time in Ella’s schooling, I am getting calls from teachers almost weekly – “Ella has been taken out of class due to disruptive behaviour”, “Ella has been shouting at the teacher”, “Ella is deleting things off other kids computers” (I didn’t know she knew how), “Ella is refusing to do PE”, “Ella is refusing to do NAPLAN”….. my sweet, angelic Ella??

Ella high school

Our mornings consist of tiptoeing around Ella so as not to change her mood. Her older sister offered to do her hair nicely the other day, which resulted in tears and a meltdown….?!? The weekends consist of Ella trying to convince me that she has a sore arm that she can’t move, or limping around the house on an imaginary sore leg, or she has a sudden onset of coughing – all in the hope she can get out of school on Monday.
It’s not ALL bad… there are elements of school that she enjoys, and she’s slowly starting to settle in.
I can’t help but think though, is this the start of a new phase in Ella’s life – is it the PWS related anxiety and behavioural problems that are starting to kick in? Or is it just normal teenage behaviour? Or is it the latter with some PWS issues thrown into the mix?
My Ella is still her loving, gorgeous self – and her smile that lights up like sunshine is still there… daily life is just a little more unpredictable, once again.

Emily Garcia is our CXO and mother to 3 beautiful girls.

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