Preventing Suffering

One question I've gotten surprisingly often over the years is: "Did you know about Collin's disorder before he was born?" Most of the time, the person wants to know, Did you have a chance to prepare yourself? But sometimes I can tell they're actually asking, Did you have a chance to avoid this?


Three weeks ago, CBS News released a story about Iceland's extraordinarily low rates of babies born with Down syndrome, owing to a combination of prenatal screening and "heavy-handed genetic counseling." Approximately 85% of pregnant women in Iceland elect to have the screening and approximately 100% of the women who receive a positive test for Down syndrome choose to terminate their pregnancies.

This is not a post about abortion, so let's all take a deep breath. It's not even a post about the fact that in order for Down syndrome to disappear, people with Down syndrome have to disappear.

This is a post about suffering.

In the CBS piece, the reporter interviewed Helga Sol Olafsdottir at the hospital where over 70% of births occur in Iceland. She counsels women who receive news of a chromosomal abnormality on whether to "continue or end their pregnancies".

Olafsdottir tells them: "This is your life -- you have the right to choose how your life will look like." Her explanation of what happens when the woman chooses to terminate her pregnancy?  "We ended a possible life that may have had a huge complication... preventing suffering for the child and for the family."

We're preventing suffering. If only.

Of all of the troubling aspects of this story, the one that struck me most deeply was the idea that one grossly oversimplified piece of information -- a chromosomal 'abnormality' -- can be a key to avoiding suffering. The idea that avoiding suffering is the goal as a parent. The idea that, regardless of whether you have the right to "choose how your life will look," you have the ability to make your life look a certain way.

The suggestion that a child with 'normal' genetic makeup won't bring you suffering is an illusion at best. Make no mistake: when you choose to have a child, you choose suffering. You can't know what shape that suffering will take and there is plenty of pastel hullaballoo to distract you from the fact in the early days; but it will come.

Maybe there will be terrifying food allergies. Maybe there will be uncontrollable behavior issues. Your child's "huge complication" might be cancer or terrible life choices. 

So why the desperation to avoid this particular "complication", this brand of suffering? Because, as Olafsdottir's statement implies, in our society there is no suffering as undesirable as disability. We can easily speculate on reasons for this: disproportionately low representation of individuals with disability in the media, segregation in schools, lack of education and experience. It all adds up to make disability a frightening unknown, both practically and socially. 

But here's the truth: there's only one thing more certain than suffering in child rearing, and that is joy. You may not know what suffering is coming, but you can count on joy. Always. And, rather than canceling joy out, in some mysterious way suffering actually seems to strengthen it.

This discussion, of course, doesn't touch on the suffering that can supposedly be prevented for the child or the suggestion that it is better to be dead than to live with disability. If you're interested in some thoughts on the subject from the kids' point of view, Collin and his cousins shared this.

The ultrasound above is the first glance I got of Collin's face. Looking at it, I had no idea the suffering that lay ahead of me. I also didn't have the slightest inkling of the joy in store. None of us do in the beginning. We can't. But we can go into parenthood with our eyes open, knowing that our very life is getting ready to become a "huge complication" and bracing ourselves for the joy will inevitably surprise and overwhelm us again and again.

[Happy?] Rare Disease Day

[Happy?] Rare Disease Day. I used to not [celebrate?] this day. At first, I didn't know it existed. Then I did, but it didn't apply to me. Then it applied to me but I wasn't ready to participate. But now I am.

I'm not here to educate you about rare diseases. You can go to this site and learn all you could hope to know. In fact, I encourage you to visit it and just learn one thing today. It would be the perfect way to honor your pal Collin.

What I've come to realize is that the point of Rare Disease Day is to raise awareness and the point of raising awareness is to change the current state of things for those of us dealing with rare disease every day. Here are three concrete ways that happens:

1. Community building. There is nothing quite like the feeling of knowing you're not the only one. Before getting Collin's diagnosis and starting the process of connecting with people all over the world dealing with the same issue, I felt isolated not only within the parenting community, but also within the special needs parenting community. I had no one to go to and say What do you do when x, y, z? Or Is this a syndrome thing or something else? 

I can't imagine what a difference it would have made in my experience as a mother to have been handed contact information for another parent at the same time we were handed the diagnosis. But the awareness just wasn't there at that time. Now, just a few short years later, it is and it's making a big difference to newly diagnosed families.

2. Financial help. Surprised? It's true. This happens mainly in the form of insurance coverage. Take the important example of exome sequencing. As rare disease awareness increases, insurance companies are slowly becoming more likely to pay for this very expensive test which is currently the only way to identify many rare diseases.  I hate to think of all of the families who shelled out many thousands of dollars on this test before increased awareness changed insurance coverage.

But we still have a long way to go. Some new friends of mine can't get coverage for growth hormone for their son because he just received his Wiedemann-Steiner diagnosis. Idiopathic (unknown cause) short stature is covered, but WSS is so rare that it's not even on lists of known diseases, much less approved for particular treatments. Increased awareness could change that. Receiving a diagnosis should never limit your options financially.

3. Better care. Your medical and therapeutic care can only be so good when virtually nothing is known about the condition you're dealing with. Rare disease parents often find themselves filling in physicians at appointments rather than getting counsel. This is certainly not the fault of the physician, who can't be expected to know about every rare disease; but, at this time, there are very few good resources doctors can use to educate themselves.

As awareness improves, doctors and therapists will be able to share what has and hasn't worked and we will build a body of knowledge that will make the receiving of a rare diagnosis an empowering experience rather than a confusing and discouraging one.

[Happy?] Rare Disease Day, folks. Let's hope each one is happier for those dealing with rare diseases.

De Novo

It's a term that's been thrown around since the early days of our genetic quest. Is Collin's condition inherited? Is the gene recessive? Is the mutation de novo?

I admit that I didn't really know what it meant at first. Technically, I knew it signified that Collin's genetic abnormality, whatever it was, occurred spontaneously and so was not inherited from either parent. But what about the actual words de novo?  What was the root meaning? For years, I assumed that it meant 'from nothing', as in 'out of nowhere'. No purpose. A random accident.

But when we received Collin's diagnosis in late 2013, I found myself needing to know for sure. It felt like a crucial step to my word-loving brain in the processing of this new information.

As it turns out, I couldn't have been more wrong. In reality, de novo translates as 'from the beginning,' 'afresh', 'anew', or 'beginning again.'

My breath caught as I read those words for the first time and my eyes stung with tears. It reminded me that Collin was Collin from the beginning of his life. That this particular genetic feature was created afresh and, despite the accompanying challenges, brought life anew.

In my original interpretation of de novo, the mutation in Collin's genes brought an end to the child I had hoped to have. But with my new understanding, I saw that it was my own expectations I had laid to rest.  That our very lives as parents were de novo. And that the three of us had been beginning again all along.