‘etre,’ to be – or if it ain’t broken, don’t fix it

‘etre,’ to be – or if it ain’t broken, don’t fix it

Prader-Willi Syndrome and Human Growth Hormone (rGH)

Little Miss Adorable, our 2 ½ year old with Prader-Willi Syndrome, is tiny.  Actually, tiny is an understatement.  She is so little that she’s falling off the percentile height and weight chart.  At last check she was around the 2nd percentile – that means that 98 out of 100 girls her age are bigger than her.  I’m not sure who the one girl who is smaller than her is, but I’d like to meet her.  We could pass over some hand-me downs.  To give you a sense of how tiny Little Miss Adorable is, our 4 month-old is wearing her pyjamas.

What Little Miss Adorable lacks in stature she makes up for in personality.  She is a devoted ‘mommy’ to a half dozen baby dolls and spends hours each day dressing them, giving them a bottle, reading them stories, dancing and singing to them, and sniffing their bottoms for poopy diapers.  (Ok, we know where she learned that one.)  She says goodbye to them when she leaves and talks about how she’s going to play with them when she comes home.

Little Miss Adorable is a regular participant at our local readiness centre (somewhat like an Ontario Early Years Centre, this program runs a free drop-in preschool program that involves playtime, circle time and gym).  Little Miss Adorable cannot walk – yet.  Most kids with Prader-Willi Syndrome learn to walk much later than their peers.

Like most kids with Prader-Willi Syndrome, Little Miss Adorable has severe hypotonia – low muscle tone – so she is ‘floppy.’  All her muscles are affected and her ligaments are super loose so she is ‘stretchy’ or hyper-flexible.  Given loose ligaments and weak muscles doing much of anything is a huge effort for her as her muscles need to work extra hard to control limbs that flop around and ligaments that do not help in the least.

Now Little Miss Adorable has made tremendous motor gains in her life so far – she started rolling at the age of 6 months and has travelled that way for nearly 2 years!  Now she travels around using a combination of bum-shuffling and commando-crawling.  She prefers bum-shuffling because her arms are usually full of baby dolls.

When Little Miss Adorable arrives at the readiness centre, she waves to everyone in the room and smiles widely.  Then another parent or teacher takes her in their arms, smiles at her and brings Little Miss Adorable to her favorite toys.  Little Miss Adorable has a blinding smile, and she will make ‘cute’ faces to get what she wants.  Some folks have said ‘she draws you in.’  I say she knows how to work it – she gets crowds gathered around her in stores and retailers give her free stuff all the time.

Little Miss Adorable’s speech is not clear and is very limited – another aspect of having poor muscle tone.  In this case all the muscles involved in speech are affected.  She talks, and we really don’t understand everything she says.  She makes eye contact, points, uses sign language and impromptu gestures to tell us what she’s thinking.

So at the readiness centre I would watch Little Miss Adorable play, and, before you know it other children are bringing her toys.  How is this possible? Little Miss Adorable is not talking, not really gesturing and certainly not moving.  She’s sitting like a lump while other kids bring her stuff.  Is it just smiles and eye contact?  And now Little Miss Adorable is not being so adorable by turning her back on another child and clutching a baby doll to her chest.  How is Little Miss Adorable doing this?

Little Miss Adorable is clearly a keen social observer and has stellar social skills (i.e. getting free stuff, and getting preschoolers and their parents doing what she wants).  When circle time comes around.  Little Miss Adorable sits and waits for the teacher to start the first song of circle time and joins right in, clapping, dancing, and singing a few words to a tune.  As soon as the song is over Little Miss Adorable shoots her hand up in the air, anticipating the teacher’s question, “Is anyone wearing a pattern today?”  Little Miss Adorable waves one hand widely while pointing down at her shirt with the other.  She loves being the teacher’s pet.


Little Miss Adorable busy at the readiness centre


At this point Little Miss Adorable has strengths that counter her weaknesses.  She cannot walk, but she dances and somehow gets people to do things for her.  She cannot talk, but sings in circle time and gets everyone to pay attention to her.  Using words and gestures she can ask for things, tell us what she did, and what she will do.

We are working on standing and walking.  We see an Occupational Therapist regularly and do all the recommended activities.  We are working on Little Miss Adorable’s speech – she sees a Speech Language Pathologist too.  We are trying to ‘fix’ the things that we feel we can fix and will be important to Little Miss Adorable when she gets older.

Because Little Miss Adorable has Prader-Willi Syndrome she has a very slow metabolism and will eventually stop feeling full after eating.  This means that her appetite may be insatiable, but she will not be able to even consume the calories a ‘normal’ person does because of her slow metabolism.

We are following a dietary plan and strict meal regime now.  We will always follow it because we feel it is very important to Little Miss Adorable’s overall health.   We see a trusted and knowledgeable pediatrician who is concerned about Little Miss Adorable’s overall development as well as growth and weight.

If you Google Prader-Willi Syndrome you will find that in the USA and Europe people with Prader-Willi Syndrome are prescribed recombinant Human Growth Hormone (rGH).  People with Prader-Willi Syndrome are very likely to be deficient in Human Growth Hormone – Little Miss Adorable certainly is.  In some countries rGH is the go-to ‘treatment’ of Prader-Willi Syndrome.

Research states that people with Prader-Willi Syndrome who take rGH grow to ‘near normal height’ and have an increase in muscle mass.  (This means that they can consume more calories, a bonus to someone who is ‘always hungry.’) Hubby and I wrestled with the idea of rGH for nearly two years now – we read the literature, talked to doctors, got second opinions – and remain not wholly convinced that this is right.  There was a study indicating 17 (!) deaths in children who started rGH.  And although some folks discount the possible reasons for the deaths (citing pre-existing medical conditions) the research remains inconclusive and the causes of death of those 17 children remain unknown.

Treatment of Prader-Willi Syndrome with Growth Hormone is supported by the FDA (in the USA) but not by Canadian counterparts.  At this point I wonder – what we are treating?  rGH will enable Little Miss Adorable to grow a couple more inches and gain muscle mass.  It will not reduce the likelihood of an intellectual disability or reduce the constant preoccupation with food she will experience.  It certainly will not make her feel full, and insatiable appetite is THE defining feature of Prader-Willi Syndrome.

So I wonder what we are treating – is it just treating shortness?  Heck, I’m 5’3” and our geneticist is 5 -foot nothing.  Height is clearly not the be all end all.  Is this just a medically sanctioned desire to treat something?  I think it like giving a person with cancer growth hormone saying this will give you great hair and a fantastic complexion, but not cure cancer.  It’s missed the mark somehow.

So at this point we are keeping an open mind to rGH use for Little Miss Adorable, but at our next endocrine appointment the doctor has some hard selling to do.

Little Miss Adorable steals the show


About Angela

Super-powered, Special Ed teacher and special needs mama to FOUR (!) children with an assortment of special needs; including Duchenne Muscular Dystrophy and Prader Willi Syndrome. Our family features a heavy dose of good ol' ADHD). I blog about our halfpastnormal life.
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