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.

Danish Group Homes for PWS

Contributed by Dorica Dan,  Romania

 EURORDIS, the European Organisation for Rare Diseases, has visited several Danish Group Homes for PWS last October. The visit occurred in the scope of the Joint-Action for Rare Diseases from the European Union Committee of Experts on Rare Diseases (EUCERD), where EU­RORDIS leads a work package on Specialised Social Services and Social Policies.

Dorica Dan, work package leader and President of the Romanian PWS Association, and Raquel Castro, Social Policies Manager at EURORDIS tell us what they thought of our group homes:

“We have had the chance to visit such different structures as Bofæl­lesskab Myrholmsvej (Aarhus), Grankolen (Allingåbro), Solvang and Marienlund (Fejø) and Orionvej 60 (Næstved). None of these services is exactly using the same model, yet all of them seem to be very successfully integrating their residents and helping them to be more autonomous.

We’ve realised that these houses had residents with different spec­trums of the disease and each housing facility adapted its struc­ture and activities to their residents. We’ve seen residents riding horses and we’ve seen others sitting quietly at home making puzzles and all of them looked rather satisfied.

In all houses there was an important connection with the staff, which is permanently there helping residents with their daily routine and activi­ties, making them feel supported and safe.

We’ve been told that several of these residents have tried to live on their own and have been unsuccessful in keeping their health and be­haviour at their best levels. Supporting staff has shown to be key for these residents to be able to be more autonomous while staying healthy. 

The purpose of the visits is to get to know certain Specialised Social Services for Rare Diseases in different European Countries in order to compile case study documents which can be used as advocacy tools and sources of inspiration. We consider that other countries might gain a lot from learning with the experience of the Danish PWS Group Homes and will be broadly sharing the information we’ve collected in Denmark.”

«As any parent in the world, I would like to have an independent daughter, even if she has PWS. I can say that she is well integrated into community but, until there will be a treatment to manage the food driven symp­toms caused by PWS, she may not live safely really independent. She learned and achieved things that looked impossible for anybody but the problem of the food control is extremely difficult for all of us.

Throughout our visit in Denmark, I couldn’t stop thinking which of these living arrangements would be the best for my daughter, which type could be organised in other countries (including Romania) and of course, I realized once again that the transition to independent living is solved just in a few coun­tries in Europe.

We have to learn and understand that supervision from social workers in these homes has to be accepted as a supportive reality and as part of the independent living. The “arrangements” for this change in our children’s lives will depend always on our child’s individual needs and abilities, the needs of the others living in the same home, resources avail­able in the community, our child’s dreams and hopes, etc. There is a need of sharing the experience of parents with the services providers and between the social workers, involved in this field. We have also to think that options and wishes may change over time, too.»

Dorica Dan, mother of Oana

Tanzania, PWS, and Easter Eggs

By MH

My first exposure to a radically-different culture came when I was 20 and spent 6 weeks visiting my sister, who was at the time teaching in rural Tanzania. During the trip I reached two conclusions:

 1. The implications of material poverty and global inequality can be truly devastating for entire communities.  Not a particularly surprising conclusion to reach, I realise, but still one that no amount of advertising by aid agencies or academic learning had really convinced me of until that trip.

2.  Regardless of our material situation, we can all learn something from each other.   

The penny dropped most forcefully for me in relation to this point on a bus trip.  I use term bus loosely, as the vehicle was, in fact, a flatbed truck for which I and an implausible large number of other prospective passengers waited to board one morning.  As I stood there a Tanzanian  lady with a baby in her arms and a young child by her side silently lifted the baby into my arms and then strode ahead to secure her place on the bus.  Much later, after I had boarded the bus with her baby and held it while the journey progressed, she retrieved her infant without a word or gesture of thanks.  She hadn't asked for my assistance because she had taken it for granted.   In her culture it was the norm for childcare to be shared.  

I left Tanzania with a heightened sense of social conscience and went on to contribute to and volunteer and work for national and international charities.  I also prided myself on not getting overly hung up on consumerist aspirations (nice car, expensive clothes etc.).  

Of course it's easy to be idealistic and embrace values such as sharing and cooperation when one has few responsibilities.  When my first child (who has PWS) was born, this forced a re-evaluation of priorities.  While I could still appreciate that many people had needs far more immediate than those of my son, I wondered whether the right thing to do was in fact to save more and more of my resources to secure his long-term needs.  After all, where I live there are no guarantees about what services the state will provide for him.  Or should I direct my resources to supporting people with PWS in the country in which I live and advocating for improved services for all in my country?

My son has recently turned 10 and so I am somewhat removed from the early shock of his diagnosis.  While I try to save for my son's future and to contribute to improving services for people with PWS in my country, I remain convinced of the merits of cooperation between countries and cultures.  Given the reality that there are huge differences in the levels of resources available to people in different parts of the world, I firmly believe that those of us who are materially well-off (by global standards) should donate money to support those who are not.  I also believe that through cooperation we will all ultimately benefit.  Increased awareness about how different cultures operate will, hopefully, enable us to identify the best bits of different ways of living and to integrate some of those elements into our own societies... I know I'd like a bit of the culture that suggests that those whose childcare needs are greatest can rely on their neighbours for help.

I support IPWSO's mission because it seeks to improve the life chances of people with PWS around the world and facilitates learning among cultures.  It does this by providing free diagnosis services, information and advice where there is no expertise, and by linking peoples and communities.  If you are reading this you are probably materially better off than most people in the world.  Maybe you are intending to buy Easter eggs this year.  If so, please also consider giving the cost of a couple of Easter eggs to IPWSO to help those who have less than you do.  

Happy Easter!

(You can donate via iDonate on our webpage...)

A Path Less Travelled

by Jackie Waters (PWSA UK)

You never forget the day your child was diagnosed with PWS. It is one of those days when life takes a sudden lurch onto a completely new path, and signposts are few and far between.

PWS is rare. It is a path less travelled by most of people in this world, but it is a path from which there is no turning back as long as you have a son or daughter with PWS. 

My daughter, Esther was diagnosed in 1983, when she was nearly five years old. I still remember the feeling of shock and numbness.  What IS this thing she has? The doctor who diagnosed her had only seen one other child in the past, and could tell me little, except to cut down on food. The UK Association was still very much in its infancy and got most of its information from the USA. When that finally reached me, over a month after Esther was diagnosed, I read that my daughter was likely to turn into something I really did not want to deal with. 

Many years down that path and looking back, it has been quite a journey. I have met people I would never otherwise have met, from all classes, races and cultures, who I can talk to like family – because only they understand. I have learned about genetics, endocrinology, nutrition, psychology, orthopaedics and a host of other things. Above all I have learned patience and tolerance.

Nowadays, there is a lot of information out there for many parents who have a child diagnosed with PWS –though there remain many unanswered questions. But some parents, who don’t have access to the internet, to other families, or to knowledgeable medical  professionals, are even now in the same situation as I was in 1983 – alone and unsure and, quite probably, without even a diagnosis.

IPWSO reaches out especially to these parents to let them know they are not alone; that there are signposts on the path and that there are others who have trodden this path before them, and who can help, even if they are people they do not yet know.  

IPWSO is having an awareness drive this Easter, asking for donations to further help those in the world who need the critical information that was not available when my daughter was small.  Please help – donate the cost of a few Easter eggs, and encourage your friends also! 

 

Easter time musings

As a child, I used to love Easter.  There was a solemnness about it that made it different from Christmas with its joyous lead-up to an exciting occasion.  I wasn’t too sure why, but I loved the peacefulness.   Easter was quieter, much more low-key and didn’t entail a huge family dinner.  What it did have, every time without fail, were hot-cross buns and an Easter egg.  Sometimes it was a big (in my eyes) chocolate Easter egg, and sometimes it was the smaller one which only cost 6d and was wrapped in bright coloured tinfoil that you could smooth out carefully and make pretend butterflies from.  I didn’t ever like the big hollow Easter eggs as they were just that – hollow.  Empty.  And just rather dull.  But the squashy marshmallow eggs were a treat worth waiting for.

As I grew older and the Christian meaning of Easter became apparent, Easter took on a new meaning and one which took a bit of understanding as it stood for both death, and rebirth.  Chickens and rabbits became woven into the whole fabric of Easter and although it was not the season of Spring in our land, there were certainly plenty of rabbits and autumnal hatched chickens.  Easter now became something to do with the essence of life, but the eating of Easter eggs was still greatly favoured in our house.

Older still, and the reality of the Easter story and the part played by the Church meant understanding the Biblical stories of Christ and their relevance in today’s society.  Easter became a season divided into a secular society celebrating the Spring equinox and the Christian society celebrating the resurrection of Christ.  It was a time of learning the differences between secular and religious communities, and between Christianity and other religions.

But there were still Easter eggs, and hot cross buns and, now, a greater understanding of what the holiday was all about.

Then came marriage and babies.  One of the babies had Prader-Willi Syndrome and quite suddenly things like Christmas and Easter became food festivals to be treated with greatest caution.  For weeks before the Easter holiday, shops and supermarkets were gaily festooned with Easter eggs, each year getting bigger and bigger, more and more outlandish.  No longer just hollow eggs, these were filled with even more chocolate.  There were rabbits, chickens, and all sorts of figures made out of chocolate: chocolate money, chocolate cakes, birds’ nests, birds’ eggs, all variety of birds and rabbits to make shopping a nightmare.  The whole Easter egg thing became a competition about who got the most, and kids would be eating them at school long before Easter hove into view.

What was I going to do?  By now there were three children and the one with PW was the youngest.  The oldest were used to the tradition of an Easter egg – more from grandparents, aunts, uncles and so on – and now, well, was I going to have to ban this?  I had to start somewhere, so I persuaded the wider family not to give our children chocolate eggs, but if they felt they had to give something, to do it when the youngest was not around.  We introduced the idea that our chickens laid eggs and on Easter Sunday there would be one special egg – and happily they did!  Easter, like Christmas, slowly became more low-key, still celebrated, but without the emphasis on food.

Time has rolled on, and around the corner Easter is waiting again.  My daughter (the one with PW) amazed me the other day by saying she thought this year she would prefer an Easter bun rather than an Easter egg.  Not sure whether that will be a statement set in concrete, in fact I strongly suspect it is a ploy to have both, but whichever, you can be sure that if you ask her for a bite of either, she will willingly share it.  I rather think many others of our extended PW family are the same and that strong streak of generosity is in all.

Perhaps you are already buying up the Easter eggs and Easter buns, ready for the festivity?  Perhaps, this year, you would donate the cost of a few eggs to IPWSO so that we can continue to help those families in great need?  You can go to our Easter Appeal (click on "Sponsor") to donate.   We would be so grateful for your support!