My Baby is not Perfect

(I write this blog in the hope that on May 6th you will support the 2014 Giving Challenge so that parents of newborn children with PWS do not have to go through the same agony as I did.  And I live in a Western country that prides itself on its good health system.

All you have to do on May 6 at noon till May 7th 11:59:59 am (est) is go to: www.givingpartnerchallenge.org  search Prader-Willi Syndrome Association.  Click the button.  There is $440,000 worth of matching dollars out there. The Patterson Foundation will match all our gifts, dollar for dollar, minimum $25 up to $1000 per individual, as long as the funds are still available. 

Please donate early before the matching funds run out!  Let's take this great opportunity to get some matching dollars.  Your click, your donation will help IPWSO continue its work in the world.)

When I was pregnant with my third child I wondered, very briefly, whether my baby would be born perfect.  My other two had, so I put the thought out of my mind and concentrated on eating well, exercising, and looking forward to the new arrival.  I noticed that my baby didn’t move so much in the womb and that there was none of the violent kicking that made my gasp and feel faintly queasy, but, in a way, this was a relief.  Her movements were gentle, like a fluttering, or a slight wobble.    My pregnancy on the whole had been calm, apart from a scare in the third month when there was slight bleeding.  I wondered if I might miscarry; it disappeared for a few weeks but then reappeared to an extent that I rang Emergency and they told me to come into hospital.  There, they made me wait and drink copious quantities of water before taking me in for a scan.  It was incredibly difficult to retain all that water, and retain my dignity.  The scan was normal.  The bleeding stopped, and the pregnancy progressed.

On my due date, I started Braxton-Hick’s contractions, the false labour that can send you into a panic.  They were irregular, just a tightening across the belly as the muscles contracted and relaxed.  Although I wasn’t unduly worried, it seemed prudent to check with the hospital.  They said to come in anyway.  So I arrived at the hospital doors awaiting admittance.  The contractions faded soon after, and in the morning I was sent home.  There was not much longer to wait, though, and that night I was admitted again, this time in labour.

It was a struggle and, because my previous pregnancy had been a caesarean section, the doctor decided forceps delivery was going to be better, so, after a few hours of labour, she was born.  The rush of oxytocin, endorphin and adrenaline hormones made me feel elated and excited.  But there was no cry, no waving of tiny arms, just silence.  I remember the nurse holding her, naked, limp, like a rag doll, arms and legs totally relaxed.  The nurse quickly took her away to a waiting crib and wrapped her in muslin.  Still no cry.  No movement.  To begin with, I did not notice, and was waiting for them to bring her back to me.  The nurse turned to me and said they would just run a couple of quick tests.  I imagined these to be the usual muscle reflex.

It was at that stage that all my unbidden fears, all the things I had pushed to the back of my mind, flooded in quickly taking away the adrenaline and leaving me feeling as limp as my baby looked.  What was the matter?  Where were they taking her?  What was wrong?

My baby is not perfect.  The only thing they could offer was that she had been exhausted by the birth and was hypotonic, limp, no muscle tone.  They wheeled me back to the ward without my baby.  I lay there motionless, waiting for someone to bring her to me, or to tell me what was happening.  Nothing.  I waited.  Hours went by, and a nurse popped her head around my curtains and said – ‘oh, you’re the one with the baby who’s got the speckled head-rash!’  What was she talking about?  I asked her: she said straight away, ‘oh that usually means mental retardation.’

My world collapsed, spinning out of control.  I was icy calm, trying to marshal my thoughts.  What now?  Who can tell me what is going to happen?  I spent the night alone in the ward, separated by a flimsy white curtain from other mothers and their perfect babies.  In the morning the specialist asked to see us.  He said a whole lot of things that simply would not fix themselves in my head.  They entered, then flew away.  I kept asking if he would repeat himself, tell me again what did it mean?  Words jumbled around in my mind.  I could not tell you anything he said.  I felt calm, as though I was not really participating in this discussion, more as though I was hovering above us all just watching. 

They brought me my little red-faced, long-limbed, silent baby to feed.  She would not suck.  I thought she was tired, but she had no power to suckle.  They gave me a bottle with an extra long teat.  ‘Squeeze the teat into her mouth’, they advised.

They let me bath her, and she lay there in the water, limbs outstretched, unable to move, barely able to open her eyes.  Every few hours they brought her back to be fed, and I pretended it was fine.  The nurses volunteered their own information, a cousin whose baby was ‘just like this’ and went on to regain her strength in a matter of weeks.  A son who never walked ‘til he was 3, but was just fine; she’s just like many babies who are born tired but soon recover. 

But the speckled rash was still there, and the words from outspoken nurse who’d frozen my heart, were still tight in my chest.

It was no good, she was losing weight, not crying, not moving; just sleeping.  So they tube fed her and I watched, feeling desperately useless, and wondering what was wrong.  No one could tell me.  Failure to thrive, was the best I could get.  I was terrified, but the terror was now iced in and would not thaw for many months yet.  I expressed milk, sitting in a corner of the nursery, listening to other babies crying, feeling so alone, so sad. 

I was allowed home after – how many days?  I don’t remember, they blurred into one long day, one long night.  And once home the feeding became the only challenge of the day.  She slept endlessly, not waking, not crying, not moving.  I squeezed the bottle’s teat into her mouth and massaged her throat, willing her to swallow.  It took an hour to feed 15 mls.  She became weaker and weaker and went back to hospital where they tube fed her, then left her to sleep.  I would drive to the hospital and sit with her for hours begging her to pull through, to be normal, to come alive.  She lay motionless and pale.  Sometimes when I held her she would open her eyes and engage mine.  That was when I would pray, to what, to whom, I did not know.  They were just words repeated over and over, “let her live, let her be alright”.

She wasn’t, of course.  She did live, but there was something fundamentally wrong; she remained in hospital and the doctors continued to look for an answer.  I came in day after day, asking whether they had found out anything more.  One day there was a plaster on the calf muscle of her tiny leg.  They’d taken a muscle biopsy to see whether she could have Werdnig Hoffman’s Disease.  Spinal muscular atrophy.  A wasting disease that has a child living 18 months or less, then wasting to death.  But they didn’t tell me that.  It was years and years later when Google came into being that I found the answer.  I could then see why they tested for it.  Many of the symptoms and characteristics were there.

After she had gained some weight, I was allowed to take her back home.  I tried to encourage her to stay awake for longer by not putting her to bed, but setting her up in her bouncinette so she could watch the other children, hear household noises, listen to music, watch the dogs.  Slowly, very, very slowly, she started to become more alert, she smiled, she watched our world from her own.  But there was no answer to her medical condition; she still had the label of Benign Hypotonia.

At three and a half years old, when she was finally walking albeit unsteadily, finally talking albeit a language of her own, and we had accepted her as she was, a friend showed me an article in an Australian women’s magazine about a child who was 10 years old and who had started life in the same way as our child had.  This child had a deletion in the 15^th chromosome which caused all sorts of things including hypophagia.  An inability to know when to stop eating.  ‘Obesity and early death usually in their teens, followed.’

The darkness that descended was, again, indescribable.  Our daughter now wore a different label, that of Prader-Willi syndrome.  Again, we were still pre-Google, pre-internet, and pre-information.  This time, the block of ice that had served me so well in the beginning, had melted and what was left in its place was a well-forged, intensely heated rod of iron.  The fight was on, let the battle commence.  I fought for knowledge.  I asked questions.  I was no longer afraid of medical professionals spouting coded messages.  I would not leave their rooms until I had the answers I needed.  It was a long wait and usually ended with one step forward, two back.  The geneticist took down a large medical dictionary, opened the page at “P” and left the room.  Why did he do that?   I still have no idea.  Did he expect me to turn the book around and read the section on Prader-Willi Syndrome (as, of course, I did)?  What then?  Did he think I would understand?  He returned eventually, but threw no new light other than this was a genetic disorder.  The paediatric psychologist did all sorts of puzzle tests with her; finally walking us to the door and saying, ‘Oh look, there’s a young lass with PWS, do you really think your daughter has that?’ 

How the hell did she not see it when I could, so clearly?

It was an ongoing battle.  Friends who knew me well stood by me.  Family worried about me.  No one else mattered.  I had become fanatical about this wretched syndrome, but I kept it to myself knowing how quickly others become bored with fanatics.  Slowly, bit by bit I recalculated my life.  It was a completely new rebuild; I discarded things that no longer held true; fanciful, dreams that would never come true, people I couldn’t be bothered with, certain principles were abandoned in favour of new.  There was a fire sale – a big one – and I closed down the old burnt-out me.  I reopened some months later, just a few doors at a time, just a peep now and again until the paintwork was reapplied, the garden weeded, the fences restored; a completely new façade gave no hint to its terrified interior.

The child grew up, did not die, was loved, educated, and though there were some dramatically bad times, we all got through them.  The façade of the new me still held good.  However, the interior always needs re-strengthening, redecorating, reviving, and old things cast out for new, It has worked; most of the time it has worked.  Nearly 30 years later, life is different, but it is still good and the interior decorating still goes on.  Nothing is perfect.