Difficult conversations about disability and birth defects

Prenatal testing is directly linked to the sharp decrease in congenital medical conditions around the developed world. Is that a good thing?

TRIGGER WARNING: This article includes discussions about pregnancy termination. Any off-topic, rude, or religious-based comments will be deleted.

Usually it takes me less than two hours to write a blog entry. This blog has taken many hours over three months. The training I have recently received from my employer on “having difficult conversations” has actually spurred me to finish this. And for me, this is an exceptionally difficult conversation.

Note: I am comfortable with the term “birth defect”. I prefer it over congenital malformation, abnormality, anomaly or an other terms that basically mean the same thing. If this isn’t your preferred language, sorry. I can’t make all of the people happy all of the time.

The Decline in Children Born with Birth Defects

Many common life-long disabilities can be traced to a single area of a single gene, sometimes down to a single base pair that went wrong at the time an embryo was formed. When a known genetic issue is the source of a disability, it is fairly straightforward to identify children who will be born with these conditions by common prenatal testing techniques such as ultrasound, chorionic villa sampling, or amniocentesis. Future technology may include being able to detect birth defects in a child by a simple maternal blood test. The following are just a few genetic disorders that are linked with reduced birthrates or advanced reproductive techniques.

Cystic Fibrosis (CF)

One in 29 people of Caucasian ancestry is a carrier of the recessive CF gene mutation. When two people each carrying this gene have a baby, 25 % of the time that baby will have CF. Until the gene was discovered thirty years ago, the rate of occurrence in Canada was 1 in 2700. Since the gene was discovered, there has been a linear decline to 1 in 3600 births. With an average of 380,000 births per year, that means in the past 30 years, somewhere in the neighborhood of 1000 children who should have been born in Canada with CF, weren’t born at all. This represents almost 25 % of the 4300 total being treated currently.

In parallel with this decrease, the life expectancy for people born with CF has increased drastically. Better treatment options including double lung transplants, insulin pumps and other innovative forms of drug delivery means that what killed my best friend over 30 years ago when he was 21 now has an average life expectancy of almost 40, with many living longer. A child born today with CF can expect to live at least into their 50s.

I can’t imagine life without Tom, my friend with CF from my childhood. We spent a lot of time in the same hospital and lived four blocks apart when we were home. We supported each other and were bonded through our respective medical problems. He and I had conversations with each other that we never would have been able to have with anyone else. If his parents had the opportunity to identify his CF and decided not to proceed with his birth, my life, and the life of many others, would have been a much poorer place.

Down’s Syndrome

Another genetic disorder that can be traced to a single chromosome is Down’s Syndrome. The rate of births with Down’s syndrome in Iceland every year is in the single digits every year, usually two. That is because 85 % of pregnant Icelandic women opt for prenatal testing, and close to 100 % of women who receive a Down’s Syndrome diagnosis terminate their pregnancies. In the US, the termination rate is 67 %.

Deafness

Overall, deafness is the most common birth defect. Although there are over 100 distinct causes ranging from infection to differing genetic syndromes, the most common genetic source is a single mutation in the GJB2 gene. Unlike CF and Down’s Syndrome, people who are deaf live an average lifespan, and require little to no medical intervention depending on their communications modality. Hearing devices such as cochlear implants, while they don’t “cure” deafness, give the child the option of hearing in addition to being deaf when the device is turned off.

Recently, a doctor in Russia reported 5 married couples where both spouses where were deaf due to the GJB2 gene requested CRISPR treatment on their embryos to see if the hereditary deafness that all of their children would be guaranteed to have could be prevented. Cochlear implants are expensive and not widely available in many countries. The fact that prospective parents are considering trying risky and never-been-tried technology to prevent a non-life threatening condition shows the desperation and lengths people are willing to go to have children without medical conditions.

Spina Bifida

I was born with club feet and kyphoscoliosis, two conditions that are very common in the neural tube defect spina bifada. Spina bifida is linked overall with a deficiency in folic acid during the very early first trimester in pregnancy. Twice, friends have come to me discussing a pre-natal spina bifada diagnosis they were facing. They asked me very specific questions about my quality of life over several conversations.

But the most important thing I think I conveyed is the answer to the question that they didn’t ask. I would not have turned out the way I did if I hadn’t been born with these disabilities. They fundamentally shaped my personality making me more stubborn, more tenacious, more compassionate. They also gave me a lot of enforced downtime that I spent reading everything I could get my hands on which in turn led me to my love of education, which then influenced my career choices. I also feel like I have had a positive impact on society in general, in my work pertaining to getting hearing aids and cochlear implants covered and in improving digital accessibility at several large organizations. Like I couldn’t imagine life without Tom, I also couldn’t imagine life without me or my three daughters and their future descendants.

I am living proof we are in the information age — conditions that would have killed or made me an invalid 100 years ago take a back seat to my education and technology experience.

Finally, having a life-long disability gave me a fair amount of insight on how to raise a disabled child. Even though our disabilities are completely unrelated, I knew how to tackle my daughter’s school district and health insurance problems, because I watched my parents do the same thing for me.

There are four basic issues that come up when thinking about having a child with a disability:

Numbers 1 through 3 are different for every situation. But number 4 is fairly easily quantifiable.

It costs a lot of money to raise a child, and even more when the child has significant health issues. In Life Costs More for Disabled Children and their Families, a UK charity found that it costs on average $165,000 USD more from birth to age 18. Throwing Americans’ extraordinarily higher medical costs into the mix, that works out to a Disability Tax of over $1000 per month per disabled child. And in the US, there are no federal or state subsidies, no automatic tax deduction or income credit for having a disability. People with disabilities are over 12 % more likely to be in a low income category than people without disabilities.

The first concern that parents have about money is whether they can afford the additional cost of raising a child with a disability. People who are already living paycheck-to-paycheck will struggle to find an extra $1000 a month lying around for the average child with a disability. The second concern is whether that child will be able to take care of themselves as an adult. The lack of social safety nets in the United States exacerbates both of these issues. In the US, it only takes a single minor unexpected medical event such as a broken bone, surgery or an ER visit without health insurance to put someone on the path to bankruptcy and homelessness. I know this from personal experience.

One couple decided to proceed with the pregnancy, the other didn’t. I can’t fault either couple for their choice, and am friends with both to this day. Perhaps if parents had better options for their children with birth defects, they wouldn’t be asking these questions or be forced to make these decisions.

It was William James, leader of the philosophical movement of pragmatism and a founder of the functionalism psychological movement who said:

We have grown literally afraid to be poor. We despise anyone who elects to be poor … we deem him spiritless and lacking in ambition.

Raising a child with a disability certainly involves electing to be poorer, but I know very few parents of children with disabilities who are spiritless or lacking ambition. Guaranteed health care for all, for starters, would go a long way towards relieving some of the concerns of potential parents of a child with a birth defect. We are stronger when we are diverse, and disability should be included in that diversity.

Written by

Accessibility Architect @ VMware. W3C Silver, ITI & IAAP GLC committees. Degrees in CS, law, business. Wheelchair user w/ a deaf daughter.

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