Protecting and Loving our Investment – the Spina Bifida Perspective

As I stand here I have to be honest with you and admit that I have struggled to prepare for this

presentation. This past week has been challenging, mainly due to my little boy Daniel undergoing

his second hip operation and being put in his second hip spica cast in as many years. For a little

boy who struggles with mobility and having gained some independence by bum shuffling around

until now, you can imagine that suddenly his world has literally been weighed down by a Kermit

green cast, immobilising his movement and definitely curbing his style in a big way. My world has

also been immobilised as I have moments where Spina Bifida is not the gift I would want left under

my Christmas tree. I have a frustrated little boy who now weighs substantially more than Two Cal

formula fed through his gastrostomy tube will ever be responsible for and cuddling him is akin to

holding an awkward manikin model from Farmers with his legs stretched in such a way that any

Olympic gymnast would be proud.

But he is still my son and one of the estimated 1,552 people born in New Zealand with Spina Bifida

since the 1920’S according to data from the National Health Committee. Where one finds the

words ‘data’ and ‘healthcare’ in the same sentence you can be sure that there is also an

accountant tallying up what the cost of specific medical conditions are on the public purse.

Before I get into that I thought I might take you on a journey back in time which examines how the

diagnosis of Neural Tube Defects including Spina Bifida became part of routine antenatal

screening.

Antenatal diagnostics techniques were first described in the nineteenth century, but it wasn’t until

the middle of the 20th century that the techniques were applied to manage various genetic

disorders and congenital malformations. The use of ultrasound to detect foetal abnormalities

began in the late 1960’s. The first Neural Tube Defect detected was a 17 week old baby diagnosed

with anencephaly in 1972. Spina Bifida was first diagnosed using ultrasound in 1975.

Maternal serum alpha fetoprotein (AFP) measurement through blood testing has been used as an

antenatal screening test for open Neural Tube Defects since the 1970’s1 when prenatal screening

technologies were in their infancy. The Lancet reported that “the finding that AFP levels are often

1 Wald NJ, Hackshaw AK, George LM : Assay precision of serum alpha fetoprotein in antenatal screening for neural

tube defects and Down’s syndrome.

raised in maternal blood in association with neural tube defect of the foetus is an important

advance in obstetric practice since it presents the possibility of a screening programme leading to

early diagnosis and termination of these abnormal pregnancies”2. In fact the pioneers of AFP

screening, Brock and Sutcliffe are recorded in the Lancet stating that their screening tool would

allow for the termination of those diagnosed with anencephaly and spina bifida :

A marker molecule, which indicates an affected foetus early enough to allow termination

of pregnancy, has so far not been found. We suggest that AFP could act as such a marker

molecule.

And so we have it; technology that was swiftly harnessed to uncover and prevent Spina Bifida and

seen as a significant step forward in identifying abnormal babies and as a tool to facilitate

pregnancy termination3.

The accepted coupling of “affected” pregnancies and “termination” as recorded by Brock and

Sutcliffe enabled a clear distinction to be made between abnormal and normal babies in order to

facilitate the termination of the abnormal. The idea that abnormality only leads to termination has

become embedded in medical practice.

And you have to understand that increasing use of screening technologies for Spina Bifida came at

a time when child mortality rates were falling. At that time it was noted that more than a quarter

of all deaths in the first year of life were due to foetal abnormalities. Scientists understandably

were alarmed, whilst parents sought a ‘remedy’ for the ‘problem’ but probably for very different

reasons. And so medical intervention shifted from preventing mortality at childbirth to uncovering

abnormality prior to childbirth. Antenatal screening has become one of the most routine

procedures in maternal healthcare, referred to as ‘recommended’, ‘essential’, ‘advised’,

’important’, ‘sensible’ and ‘routine’. It sprang from the medicalisation of pregnancy and childbirth,

technological advances and conceptions of disability for conditions which were able to be

detected but not cured.

2 Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007 September;

33(9):501-507 3 Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007 September;

33(9):501-507

Data from the UK indicates that there is a 1 in 20 chance of having a baby with open Spina Bifida.

The risk of having any NTD is approximately 1 in 104. By 1977 an AFP screening programme for

Neural Tube Defects was in place with an estimated increased detection rate of around 15%5. At

16-186 weeks gestation, 88% of anencephaly, 79% of open Spina Bifida and 3% of unaffected

singleton pregnancies (false positive result) had AFP levels above the normal median.

Ultrasound technology used in the second trimester has a 97% detection rate for NTDs7.

The prevalence of NTDs in New Zealand in the late 1970’s and early 1980’s was close to 2/1000

livebirths but as methods of prenatal screening and diagnosis have improved, this rate has fallen

to 1/1000. Most pregnancies affected by NTDs diagnosed prenatally are terminated8.

This pattern of live-birth reduction has been demonstrated in many other countries where

antenatal screening programmes operate9 and there are high detection rates and high pregnancy

termination rates for NTD affected pregnancies10.

The justification for introducing prenatal screening for Spina Bifida has been grounded historically

on terms such as ‘prevention’, ‘efficacy’ and ‘benefit’ (ie. cost prevention). An implicit link

between diagnosis and prevention, abnormality and termination exists. The availability of

antenatal screening and diagnostic testing has changed the experience of pregnancy, creating a

need for reassurance from ‘genetic anxiety’ where parents are driven by fear of having defective,

socially unacceptable children. Prior to the advent of screening, a baby was assumed to be

healthy, unless there was evidence to the contrary. Now the balance has shifted towards having to

‘prove’ the health or normality of a baby. There is no denying that screening can be a vital aid in

monitoring pregnancies for therapeutic reasons with a view to safe delivery. However, most

screening is performed in order to prevent the birth (or conception) of disabled children. In a

4 Wald NJ et al Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of U.K collaborative study on alpha-fetoprotein in relation to neural tube defects. Lancet 1977 Jun 25;1(8026):1323-32 5 Chan, A., Robertson, E.F., Haan, E.A., Ranieri, E and Keane, R.J. (1995), The sensitivity of ultrasound and serum alpha-fetoprotein in population-based antenatal screening for neural tube defects, South Australia 1986-1991. BJOG : An International Journal of Obstetrics & Gynacology, 102:370-376. Doi: 10.1111/j.1471-0528.1995.tb11287.x 6 Quest Diagnostics : Prenatal screening and Diagnosis of Neural Tube Defects, Down Syndrome, and Trisomy 18 http://www.questdiagnostics.com/testcenter/testguide.action 7 Wikipedia : Prenatal diagnosis http://en.wikipedia.org/wiki/Prenatal_diagnosis

8 Carol Bower : Fortification of food with folic acid and the prevention of neural tube defects NZ Med J 2003; Vol 116

No 1168 9 Screening Brief : Antenatal screening for neural tube defects J Med Screen 1998; 5:167

10 Cameron M, Moran P Prenatal screening and diagnosis of neural tube defects Prenat Diagn. 2009 Apr;29(4):402-11

study on ethics, justification and the prevention of Spina Bifida it was noted that the failure of

pregnant women to undergo antenatal screening and the subsequent failure to terminate on

diagnosis was ‘a hindrance to the efficacy of success in preventing the birth of babies with Spina

Bifida’. It reduced efficacy levels in practice from 95% to 65%11.

On 25 July the Spanish justice minister, Alberto Ruiz-Gallardón announced that as part of the

upcoming reform of the country’s abortion laws that foetal deformity will be eliminated as a basis

for pregnancy termination. He said that “he does not understand why the unborn are

unprotected, permitting them to be aborted, because of the fact that they have some kind of

handicap or deformity; and that it seemed to be ethically inconceivable that Spain has lived so

long with this legislation; that the same level of protection given to an unborn child without any

type of handicap or deformity should be given to those that are verified as lacking some of the

abilities that other unborn children have”12.

The impact of the NSU Antenatal Screening programme on Spina Bifida can be clearly seen in the

number of live-births recorded by the NZ Birth Defects Registry which have declined from 34 in

1996 to just 9 in 2009.

SO WHAT DOES SPINA BIFIDA COST?

A 1994 study by Waitzman estimated that the direct and indirect costs of treating patients with

Spina Bifida over their lifetime was NZ$565K. The study investigated the direct medical, special

education, and development services cost and indirect costs including mortality and morbidity

costs of Spina Bifida and 17 other birth defects in the USA. Spina Bifida had the fourth highest

lifetime cost.

In an unpublished 1997 study by Singh & Elliot the cost of patient care for Spina Bifida in New

Zealand up to the age of 20 was reported to be NZ$355K. At that time there were on average

about 20 cases of Spina Bifida born per year resulting in a total cost over 20 years of $7.1M and

did not include other potential costs such as the loss of parental income, special education, family

stress, wheelchair, crutches, occupational therapy, and GP visits etc.

11

Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007 September; 33(9):501-507 12 http://www.lifesitenews.com/news/spanish-government-plans-to-end-abortions-of-handicapped-babies-says-justic

The indirect costs of Spina Bifida are substantial. There is a substantial impact on the ability to

work when caring for a child with Spina Bifida with participation rates 21% to 27% lower than

others in the general population. Now I am of a view that being a mother is a fulltime career in

itself but it has been shown caregivers of children with Spina Bifida work an annual average of 7.5

to 11.3 hours less per week depending on disability severity. In 2002 this difference in work hours

was calculated as $112K USD in lost earnings over a lifetime.

In the USA hospital charges for newborn infants with NTDs amounted to $74M USD million in

2003. Average payments for children with Spina Bifida were 11.6 times higher than the average

payment for all children in Washington State’s Medicaid programme. Children and adolescents

with Spina Bifida incur medical expenditures several times higher than other children and

adolescents. Adults with Spina Bifida account for 67% of cases and 66% of medical expenditure.

So at any age, individuals with Spina Bifida incur higher medical expenditures than those without,

and costs continue to be high throughout adulthood. Almost half of the hospital admissions for

adults with Spina Bifida are due to secondary conditions and the financial costs of these

admissions are substantial. Hospital admission rates in Canada for adults with chronic and complex

physical disabilities including Spina Bifida are nine times that of the general population.

The most recent study in 2011 on the economic burden of neural tube defects13 indicated that the

burden of NTDs is substantial with a significant proportion of the cost occurring during childhood.

In New Zealand, a study into inpatient Paediatric Neural Tube costs by Dr Brendon Bowkett

(CCDHB)14 demonstrated the enormous morbidity faced by children with Spina Bifida and their

families. He calculated that the cost of surgery alone is nearly $1M NZD for each child. Many costs

attributed to Spina Bifida were not included in the study, including costs incurred to peripheral

hospitals, prenatal and obstetric care, district nursing, social work, special education, transport,

wheelchairs and mobility aids, orthotics, physiotherapy, occupational therapy and outpatient

consultations. Social costs to the family such as loss of parental employment and ‘extra costs’ to

13 Yunni Yi : Economic burden of neural tube defects and impact of prevention with folic acid Eur J Pediatr 2011 DOI

10.1007/s00431-011-1492-8

14 http://www.stuff.co.nz/dominion-post/news/wellington/4322022/1m-cost-per-child-sparks-folate-call

the health service due to factors such as latex allergy management were also not calculated. But

even with this highly conservative estimate, the cost analysis still showed that treating paediatric

NTDs is significantly more expensive than the only previous study. It is estimated that the overall

cost of managing neural tube abnormalities in New Zealand is $39M per year.

The study by Dr Bowkett gives a window into the disruption to people living with Spina Bifida and

their families through the high number of admissions, and the long cumulative lengths of stay in

hospital but patients with Spina Bifida should not be viewed simply as being an economic cost.

SPINA BIFIDA AND ECONOMICS

We live in an economic environment that is driven by fiscal responsibility and cost cutting. From

the late 18th century to today financial cost has been at the core of understanding the position of

disability in society. Efficacy and efficiency are demanded. When screening was first developed it

was harnessed to uncover the disabled and prevent the birth of people seen to be costly and non-

productive future members of society, rather than see that baby as someone’s daughter, son,

brother, sister, niece, nephew or grandchild. Impaired bodies have always been viewed as a drain

on economies rather than a source of production. But families find meaning in the lives of their

children. Whether those lives are unimpaired or lived with severe impairments, whether they are

very short or not15.

In 1978 the key benefit of antenatal screening was described by Chamberlain as ‘averting the birth

of those who would have survived to live a handicapped life’

As with many other screening programmes, it is disappointing, when benefits

are estimated on a population basis to find that so many affected pregnancies

are likely to escape early detection and termination … but a reduction of 200

births a year is certainly a worthy objective.

And again in a document from the UK DHSS reiterates the ‘real’ aim of screening technologies:

“Because caring for the disabled can impose great burdens on our society

the prevention of disabilities, in addition to its other benefits may save money.

15 http://neonatalresearch.org/

The costs of providing maternal serum AFP screening for all pregnant women

would be more than offset by the economic benefits in terms of savings of

expenditure on children and adults with Spina Bifida” 16.

It can be reasonably assumed in today’s environment that those seen as posing an economic risk

to the health budget will continue to be targets.

The connection between disability and economics is nothing new but rational-economic thinking

as it is known degrades our willingness to accept and care for so-called ‘abnormal’ children and

adults. It also makes our society hostile towards parents who choose not to terminate affected

babies. All too often parents who are pregnant or have children with Spina Bifida are openly asked

‘didn’t you have the test ?’ or ‘did you know before little Johnny was born?’ We often wonder

what we are really being asked and why. What gives our society the right to question the right to

be born based on whether or not you have a diagnosed disability. We don’t discriminate against

people who develop or incur a disability, we support and encourage them, health and support

services are wrapped around them. Why not for the unborn? Why are they marked for

destruction?

Combine economic reality, development of technology, increasing medical knowledge to support

life, and increasing patient numbers and we have a situation where cost and balancing of

resources has become part of the agenda in medical discussions around screening and prevention.

Controlling the healthcare budget has become a leviathan.

In 1975 the benefits of the NHS national screening programme in the UK were made abundantly

clear:

The advantages gained …, due to early detection of severe neural tube defects

and other abnormalities, (would lead to) … a major reduction in the number

of cases of Spina Bifida requiring long-term institutional care. In crude

16

Aksoy S Antenatal screening and its possible meaning from unborn baby’s perspective BMC Medical Ethics 2001, 2:3 doi:10.1186/1472-6939-2-3

economic terms, the value of the savings in healthcare alone would probably

far outweigh any costs of a screening programme17.

The assumption that disability is a national cost continues to this day despite New Zealand having

a disability strategy to promote inclusiveness.

In a quote from the World According to Mister Roger18, Fred Rogers points out that part of the

problem with the word 'disabilities' is that it immediately suggests an inability to see or hear or

walk or do other things that many of us take for granted. But he says what of people who can't

feel? Or talk about their feelings? Or manage their feelings in constructive ways? What of people

who aren't able to form close and strong relationships? And people who cannot find fulfilment in

their life, or those who have lost hope, who live in disappointment and bitterness and find in life

no joy, no love? These, according to Mr Rogers are the real disabilities.”

Daniel is privileged to be cared for by our family GP, Dr Krishnen Pillay in Cambridge. He asked me

to convey his thoughts on this issue to you. As a society we terminate/exterminate/dispose

of approximately 18 000 children each year in NZ because it is legal, convenient, "free" (taxpayer-

funded = you & me), easy and acceptable in a disposable society. I leave you to do the math for

the whole world. These are "normal, healthy" babies whose termination is legally sanctioned in

most "civilised" societies. What chance then for those who are less than perfect?

There is an oft-quoted phrase:

" Life is like a game of cards: it's not the cards that you're dealt; it's how you play the hand!"

But how do you play when you don't even get dealt enough cards to start with?

In June this year The International Society for Prenatal Diagnosis held its 16th International

conference. According to Dr. Yuval Yaron, Director of the Prenatal Diagnosis Unit at Tel Aviv

Sourasky Medical Centre and the World Health Organization, for a test to be acceptable as a

screening test, it must be accurate, cost-effective, and identify conditions for which there is a

treatment. In the very first session of the conference, it was argued that testing for Fragile X

syndrome should be universally offered, even though this fails to meet the treatment criteria. But

it was argued that the test should be offered to every woman because an economic analysis 17

Leighton A H, Gordon Y B, Kitau M J et al Levels of alpha-fetoprotein in maternal blood as a screening test for fetal neural-tube defect. Lancet 1975 79431012-1015. 1015 PubMed 18 http://www.goodreads.com/work/quotes/713675-the-world-according-to-mister-rogers

demonstrated that the costs of women accepting the testing could be offset by the amount of

public health-care money saved if those women aborted their “defective” babies. There is no also

no treatment for Down Syndrome. In the case of Spina Bifida, there is no prenatal surgery

available in New Zealand, but it is available internationally costing around $85K USD and I have it

on record from the Maternal Fetal Medicine Network that they feel that “at the present time the

situation is that there is not clear support from the MFM community in Australia and New Zealand

to offer prenatal surgery for spina bifida. This is for technical and in some cases for reasons around

maternal issues. Surely offering pregnancy termination to these same parents also causes

‘maternal issues’? Likewise there is no support for parents being able to access the Ministry of

Health High Cost Treatment Pool from the Maternal Fetal Medicine Network or from within the

MOH. But there is proven benefit for prenatal surgery internationally in terms of improved patient

outcomes and reduced costs to the health system. The issues faced by mothers who have been

part of the surgical programme are significant, there is no denying this, but you only have to be

part of the Spina Bifida Fetal Surgery FB page to witness the great pride in the achievements of

their children as they grow. There are babies that don’t make it, but parents go into surgery

knowing all potential risks. Termination only guarantees that the baby definitely doesn’t make it.

On diagnosis all of our parents have been advised that pregnancy termination is easy, quick and

painless and that we can go right ahead and try again for a ‘healthy’ baby. So Fetal Medicine

Specialists must then regard babies diagnosed with foetal abnormalities like Spina Bifida as

replaceable. For them to suggest this really shows that they think that children like my son are

worthless19.

But it gets worse. Spina Bifida New Zealand has evidence that parents have been and are being

counselled to let their newborn babies die through non-treatment. These are the stories of Jannah

and Marietta.

Jannah had her 20 week scan and a couple days later her midwife rang and said that the baby had

Spina Bifida. After a detailed ultrasound at Waikato Hospital she and her husband were advised by

the Foetal Medicine Specialist that their baby had Spina Bifida, would have problems with

mobility, bowel and bladder control among other things. They were advised that they could

19 http://neonatalresearch.org/

continue the pregnancy or have a termination, that termination was very easy and painless and

that they could try again for a healthy baby almost straight away. The specialists left for five

minutes so they could decide. They decided to proceed with a termination but on the day of her

appointment to be induced she told them she had changed her mind. At 24 weeks she saw a

Paediatrician in Taupo to get more information about Spina Bifida. She was told that her baby

would be paralysed and to think about having wheelchair ramps built, that she would probably go

into preterm labour and that baby would die from infection. The Paediatrician implied that was

the most likely outcome of this pregnancy. She was shown a picture of a baby that the parents

chose not to have treated. This was to illustrate how deformed her baby’s head would look and

what the opening on the baby’s back looked like. She was also informed that they had the option

of non treatment resulting in death after the baby was born. In the absence of treatment, the

mortality of Spina Bifida is approximately 50%. After her baby was born she was asked several

times if she wanted him treated. When Jannah’s parents went to see the baby before his closure a

nurse actually told them that he was paralysed from the waist down. Jannah’s little boy, named

Fergus is now 3, walks around the furniture, has normal intelligence, had a shunt inserted, has

never had a bladder infection, no reflux, is on no medication and is a big brother to 2.3 siblings (I’ll

let you work that one out!) Three years after the birth of her son, Jannah is still angry with a

medical system that presented the worst case scenario as fact with no information, no access to

support and which left parents no time to consider their decision.

When Marietta’s son Eben was born he was born with a large hole in his back and his spinal cord

was growing outside of his body. He needed an operation to cut this cord and tuck it back into his

body and the hole closed up. Doctors suggested that Marietta didn't go ahead with this and was

advised to choose what they called comfort care where they leave the hole open so the baby gets

an infection and is allowed to die. Before Eben’s birth Marietta was also given the option to abort

at 28 weeks (when there 2 babies in the special care unit that were 26 weeks). She was left

wondering why the doctors were trying so hard to save these tiny babies lives yet didn’t place the

same value on her son. This was the care that Marietta received at Middlemore and Auckland

hospitals. Eben is now 15 years old and positive about living with Spina Bifida.

Health professionals are not allowed deny health care or health services, food and fluids on the

basis of disability. To do so contravenes the UNCRPD. We should be (and I am) outraged that this

was the model of care offered to these women.

A British Medical Journal study in 2006 evaluated the knowledge of obstetricians, midwives and

patients about antenatal screening - 57% of Obstetricians, 100% of midwives and 91% of patients

provided incorrect responses20. The medical profession is largely trained to view humans from a

bio-medical perspective: what’s wrong with the patient? And that wrongness is defined by what

the professional performing the diagnosis views as normal or desirable. It should not be surprising

that a profession that exalts high performance views people with cognitive or physical challenges

as having something wrong with them—as being “defective.” Phrases like burden, defective and

epidemic were terms commonly used in the eugenics era at the turn of the last century to justify

compulsory sterilizations and involuntary euthanasia. The administration of antenatal screening

does not happen in a hermetically sealed vacuum and while technology may be value-neutral, how

it is administered is not. It seems we have an ingrained bent toward finding a reason to

discriminate against others. Lessons learned from the Holocaust in WW2 which began with

individuals termed “feeble-minded,” then expanded to include those with physical disabilities,

and then ultimately the Jews surely means that as a civilized nation we should have become more

inclusive of all individuals, regardless of race, disability, or ethnicity21.

On the TODAY show in the USA, Senior medical editor Dr. Nancy Snyderman was asked to

comment on the ability of researchers to now identify 3,500 genetic conditions based solely on a

sample of the mother’s blood and the father’s saliva and the ethical issues this raises for parents

having information that their child is going to have a genetic problem; who are then faced with the

question of whether to go forward with the pregnancy. Her answer was that she is pro-science

and believed that this is a great way to prevent diseases. Since when did an unborn baby become

a disease?

In April this year Newsweek Magazine reported on an “epidemic of special needs kids.22” The

article discussed the growing burden of caring for these children because of the costs of medical

20

Little D Issues in Prenatal Testing 2012, Address given to Family Life International Conference 27 Jan 2012 21

http://www.thepublicdiscourse.com/2012/07/5808 22

http://www.thedailybeast.com/newsweek/2012/04/29/an-epidemic-of-special-needs-kids-heads-for-a-crisis-of-care.html

care and notes that these burdens have been compounded due to societal advances in medical

care and inclusion in mainstream society. Individuals with intellectual and developmental

disabilities are now enjoying longer and therefore costlier lives.

Fred Rogers23 notes that what has been important in his understanding of himself and others is

the fact that each one of us is so much more than any one thing. A sick child is much more than his

or her sickness. A person with a disability is much, much more than a handicap. A paediatrician is

more than a medical doctor. You're MUCH more than your job description or your age or your

income or your output.”

And my son and others like him are much much more than Spina Bifida alone. They are our

children first, they are the reason we get up in the morning, they have introduced us to a world we

otherwise wouldn’t have experienced, they are our heros. We are their parents, their advocates,

their cheerleading squad, their fiercest protectors and their staunchest allies. They are our

investment in time, energy, money, tax dollars but more than that, they are an investment in love

which is the greatest gift of all.

23 Fred Rogers, The World According to Mister Rogers: Important Things to Remember