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Monday, July 18, 2011

The Cure?

by Mark Dunning

What if Usher syndrome no longer existed? What if it went the way of Polio and Small Pox? But as with the Polio and Small Pox vaccines, this treatment would not change the fate of those of us who already have Usher syndrome. In short, we’d be the last, a people destined to be a footnote in the history books. How would you feel if no one was ever born with Usher syndrome again?

I don’t know much about preimplantation genetic screening which is not surprising. I don’t know much about a lot of things. Actually, I’m sort of fascinated to even be writing the words preimplantation genetic screening. Five years ago I had never heard of those words and would have never, ever considered writing them in a blog that I co-write with a molecular biologist from Oregon. A lot has changed for me since my daughter was diagnosed with Usher.

One of the things that has changed is that I now sit on the board of directors for a genetics group. I was invited to join because my daughter has Usher syndrome. I’m the consumer representative which means, basically, that I ask dumb questions that everyone else in the room already understands. That’s because 95% of the topics we discuss go over my head like balloons released at a carnival. Every once in a while a string passes close enough that I can reach up and grab it. That happened recently with preimplantation genetic screening and it is where I learned the little I know about the topic.

So here’s the Idiot’s Guide (and I do mean idiot) to preimplantation genetic testing. Using in vitro fertilization an egg (or eggs) is fertilized in a petri dish. The genetic material resulting from this fertilization is then genetically tested for certain known genetic conditions. Based on this testing embryos are chosen that do not have the genetic condition with the intention of ensuring that the coming baby does not have said genetic condition. The chosen embryo(s) is/are then implanted into the mother to continue development.

Preimplantation testing is not done prior to every pregnancy right now nor is there any indication that it will be any time soon. But it is not farfetched to think that someday it might be. When my parents had kids, caesarian sections were almost never done. Now according to Wikipedia (and Wikipedia is always right) almost 20% of births in the US and nearly half the births in China are c-sections. So it is not crazy to think that in vitro fertilization and preimplantation testing might one day become the norm.

So for the sake of this post, let’s imagine a world where preimplantation genetic testing is in fact the norm.

One obvious benefit would be the potential elimination of some terrible disorders, such as Tay-Sachs, a neurological disorder that usually results in children dying before the age of four. The world would undoubtedly be better off without that disease, right? And it would be gone forever. Such testing would allow us to not only identify eggs that had Tay-Sachs but also eggs that were carriers. Since no one would still carry the gene, within a generation Tay-Sachs could be gone.

That would hold true for any genetic condition, including Usher syndrome. And the world would be better off without Usher syndrome, right?

My son spent a recent Saturday playing a soccer game with an exaggerated limp. He claimed to have hurt himself kicking a ball against a wall the day before. I would have held him out of the game but for two reasons. First, the limp changed sides frequently and often disappeared altogether. Second, a hangnail can put him the verge of tears. In short, I love him dearly, but he’s a wimp. That’s OK, so am I.

My daughter on the other hand is tougher than a three dollar steak. She takes knocks on a daily basis that would make a boxer wince and does so without so much as a change of expression. Bella has Usher syndrome. She has spent her life tripping over things and bumping in to things. She falls down a lot. She expects it. She knows how to deal with it. She is an expert at picking herself up. So when she goes down, she pops right back up. Jack, on the other hand, rarely hit the canvass. When he does, he stays down for an extended period more from surprise and inexperience than from any real injury.

So why are my kids so different? Is it genetics? Is Bella genetically designed to be tougher than Jack? Or is it more environmental? Or is it a combination of both? The answer might be simply that Bella has a genetic condition called Usher syndrome that causes her to come in to conflict frequently with her environment and that makes her tougher.

One of the big ethical questions facing preimplantation genetic testing is what genetic traits should a parent be able to eliminate? Diseases like Tay-Sachs are easy decisions. Bringing a child in to the world to suffer and die is not anything anyone would support. But where is the line on suffering? If a gene meant someone was destined to get cancer in their forties, should that be eliminated? How about if the cancer is treatable with a nearly 100% survival rate? According to ABC news, “social research suggests that shorter people…make less money, hold fewer leadership roles and are less sexually active than their taller peers.” That same article states that 10% of the genes that control height have been identified. Someday it will be 100%. When it is, is short stature suffering worth avoiding?

There are treatments for hearing loss. Many in the Deaf community don’t even consider hearing loss to be a handicap. But a large percentage of the causes of hearing loss are genetic. Is hearing loss a trait that should be eliminated?

And what about Usher syndrome? The hearing loss is treatable. There will someday be treatments for the vision loss. So does Usher syndrome bring so much suffering upon families that it should be genetically eliminated?

We recently ran a charity horse show to benefit the Decibels Foundation. My whole family was there. My daughter rode in the show. My father came over to the farm at the crack of dawn to help my sister, my wife, me, and a host of friends set up. My son helped with the raffle and worked the concession stand.

My wife and I started the Decibels Foundation ten years ago because our daughter was born deaf. Decibels does a lot for families with Usher syndrome these days, too, because Usher is turning out to be a much more common cause of hearing loss than first thought.

My parents are the reason I am a carrier of Usher syndrome. My wife is a carrier, too. Because of us, Bella has Usher syndrome. So you could say that our parents are the reason that there was a horse show. Without them, there is no Bella and without Bella, there is no charity horse show, and no benefit to hundreds of other deaf families.

I know a man. He had a son who had Tay-Sachs. His son lived longer than most. He died when he was seven. The boy never left his bed, never said a word. The man started a national Tay-Sachs foundation and has raised millions for research. He has two other children and is the kindest, gentlest, most loving father I have ever met. When I told him I admired his patience and the love he clearly displayed for his children, he said he wasn’t always that way. Tay-Sachs had changed him.

“Character cannot be developed in ease and quiet. Only through experience of trial and suffering can the soul be strengthened, ambition inspired, and success achieved.”- Helen Keller

Here’s a question for you: Has mankind thrived in spite of its challenges or because of them? And what does it mean for society if we eliminate those challenges?

My daughter always stands tall in the face of adversity because she has Usher syndrome. My family is closer and more giving because of Usher syndrome. My friend is a better father because of Tay-Sachs and I dare say I am a better man because of Usher syndrome.

Would we have become who we are without those challenges? And would the human race have achieved what it has without its innumerable challenges?

We watched X-Men: Last Stand the other night. The premise of X-Men is that mutations in the human genome lead to a group of people, mutants, with super powers. In this particular movie, a ‘cure’ is found that can eliminate the mutation, essentially turning the mutants back in to people. This is a source of contention among the mutants. Many are happy just the way they are. Some are worried about what it would mean if everyone else takes the ‘cure’ and they do not. What happens to them?

We sometimes joke with my daughter that she is a mutant like the X-Men. This has always been a source of pride for her, given that they are super heroes and all. During the movie, in one of my frequent bad parenting moments, I casually mentioned to Bella about preimplantation testing. I told her that we might someday have a ‘cure’ like in the movie, a way to ensure that no one would be born with Usher syndrome again. She started to cry. She didn’t want people like her to no longer exist, in part because of the implication that she was something horrible that needed to be eliminated, but also because she didn’t want to be alone. She didn’t want to be the last mutant.

What does it mean to ‘cure’ Usher syndrome? Does it mean viable treatments like cochlear implants? Does it mean identification at birth like PKU where a simple blood test in the first days of life (remember the heel-stick in the maternity ward?) allows a disease that can cause severe mental retardation to be avoided by simple dietary modifications? Or does it mean that the disease, like Polio, is simply eradicated and gone forever? And what would that mean for us, the last families with Usher syndrome?

Preimplantation screening is gaining popularity. A host of genetic disorders, including Usher syndrome, could eventually be eliminated from the human race. At some point in the not too distant future it’s entirely possible that no family will have to suffer the agony of Tay-Sachs or fear for the deaf-blindness of Usher syndrome. And the world would be a better place because of it.



Dianrez said...

Your comments are rare and deeply thoughtful. In sum, if one regarded an embryo in a Petri dish and realized it was a future Bella, could one eliminate it?

No, because we remember people with various conditions and loved them all the same. Variety in humanity is a precious quality and shouldn't be dismissed casually by a scientific method without careful and moral consideration.

David said...

This *really* sounds like a Pandora's Box of potential problems. If this technology were available, there is no reason that it could not be used to eliminate gay orientation, a non-preferred gender, a non-preferred skin color, or even non-compliant personalities. George Orwell's nightmare of fetal manipulation to produce a race of passive, compliant subjects (slaves) becomes possible.

Given what we have already seen governments and dictators do around the world, I think such possibilities are actually likely. Just think of Kaddafi in Libya, Mugabe, Stalin, and Hussein in Iraq. T

This genie in the bottle needs to be *tightly* controlled.


MarfMom said...

I had never heard of Usher syndrome until I came across this blog entry (a friend tweeted it) but I feel I can relate. I have Marfan syndrome, a life-threatening disorder of the connective tissue. My infant son has it as well. As 90-95% of people with Marfan are able to identify their particular genetic mutation (most are unique to an individual family), PGD is an option for most of us "Marfs." I don't judge anyone who chooses to go that route, but my husband and I felt it was not for us.

There are definitely ethical implications on a large scale to consider. For my husband and me though, what it came down to most of all is that I'm happy with who I am and while my disorder limits me, I don't feel limitED, if that makes sense. Even though my illness is serious, I am grateful for the things it has taught me and feel I'm a better person because of it. I wouldn't want my parents to have chosen not to have me because of my diagnosis. I hope that when my son is older he feels the same way.

Ellen Painter Dollar said...

Hi Mark - I came to this post on a friend's recommendation. I write a blog that explores these questions (and others related to reproductive ethics), particularly from a faith perspective. I and my daughter have a genetic bone disorder called osteogenesis imperfecta. I have a book coming out in five months that addresses many of the questions you raise here. You did a fabulous job of outlining the moral quandaries of genetic screening. I especially liked your using short stature as an example of the sort of traits that people might decide need to be eliminated. I often use that example, because I once saw a 60 Minutes where parents enrolled their smaller-than-average child in a controversial, potentially dangerous drug trial because of the ways he suffered for being short (e.g., he couldn't compete with his taller brother in sports).

My daughter and I have suffered a great deal because of our bone disorder, and my husband and I actually used preimplantation screening to try to avoid passing the gene on to our second child. It failed (I didn't get pregnant) and we went on to have two more children naturally, neither of whom have the disorder. That experience opened my eyes to the moral questions this technology raises. In my writing, I don't argue that the technology is absolutely wrong or right, but do raise the important questions that you raise here. Thanks for this. I'm linking to it from my blog today.

Tara said...

Many people think the "cure" for Down syndrome is already here (or will be in the US in a few months) with a simple prenatal blood test that detects it with the same accuracy as amniocentesis. Because of it, in Denmark alone, they expect the last person with Ds to be born there by 2030. The 92% termination rate that we have in this country will rise until Down syndrome will be more of a rarity than it already is. People like my son, who are just different - no better, no worse - than others, will not be given a chance to prove how amazing they really are.

Good thoughts. Thanks for sharing.

sashlund said...

Mark, I also asked my 12 yr old son w/ Usher Type 1 - which he views as a minor inconvenience, a very surmountable challenge, and he doesn't think it should be selectively screened out before implantation. We also have a cousin w/ Downs, and he feels the same way about that screening, even though he doesn't know it's already commonplace. He was adamant - we had a long and in depth conversation about what it means to be disabled, how, what age, what's possible, what's unknown, and so forth - we both learned from each other. Thank you for sharing your story!

Anonymous said...

I am struggling with this post, and have struggled with these issues before. I have Usher Syndrome (type 2). If someone told me they could halt my vision loss right now, I would gladly accept. But if someone told me they could "cure" my hearing loss, I'm pretty sure I would choose to stay the way I am. Pre-implantation screening raises difficult questions about where the line in the sand should be drawn with respect to which diseases/"mutations" should be "allowed". It is a slippery and dangerous slope, one that makes me very uncomfortable. I do not have pain or suffering. I perceive the world differently, which I believe brings value to society. I have resilience, inner strength, determination and courage as a result of dealing with Ushers. What is the perfect able bodied person anyway? There is a spectrum of abilities, just as there are spectrums of height, gender, intelligence, etc. If I had a choice, I would choose to be born this way versus aborted in a petri dish.

Finally, two words that need to be eliminated from your vocabulary: handicap. and..retardation.

dave said...

My mom was born with Usher III back in 1925 before anyone new much about Usher let alone type III. She died in 2003 at the age of 77. She remembers when she was young and not seeing very well at night but that was all. Than as she got older the disease progressed to night blindness and tunnel vision with very mild hearing loss. As sure approached her 50's sight became very bad and she couldn't go out at night without assistance from others and she started to use a hearing aid for the first time. As she approached her 70's the disease became a prison for her because of her very limited hearing and almost no sight. I feel for anybody that has this disease. To not be able to see or hear is so very lonely. Seeing my mom go thru this disease I hope someday they come up with a cure for this horrible progressive disease.

KMU said...

My husband, who was 20/400 before lasik and myself, who comes from a long line of hard of hearing people, apparently both carried the genes that expressed themselves as Usher II in our son. His RP was not diagnosed until right after he got his driver's license. He was actually relieved at the diagnosis as he now had a word for what he was experiencing - not stupid, not clumsy - but: blind. He knows he'll have to give up driving. He seems ok with it. He's always had a wicked sense of humor, enjoys video games (he tries to pull the, "Mom, I can't empty the trash now - I gotta play video games before I go completely blind." Nice try, guy!) What I, a sighted person views as a catastrophic loss, appears to be just an inconvenience. He's more interested in talking to his girlfriend and teasing the cat than worrying about his vision (he's 20). True, it makes him mad from time to time, but he tells me, "Yeah, I'm mad I can't see well and it's getting worse, but it's like you getting mad at your arthritis now that you are an OLD LADY (insert evil grin, here) - you get over it and move on with life." If I had the chance to do it over again, would I have chosen to let him not Be. Not a chance.

Dan said...

In 1937 the National Socialists, better known as the Nazis, released a propaganda film entitled "Victims of the Past" (or, in the original German, "Opfer der Vergangenheit".

In it you will find the following:

‘All weak living things will inevitably perish in nature. In the last few decades, mankind has sinned frightfully against the law of natural selection. We haven’t just maintained life unworthy of life, we have even allowed it to multiply! ...’

It's amazing to think that only 66 years ago we wrapped up the Second World War, yet here we are at an age where we are poised to possibly make some of the same mistakes. All with good intentions, of course.

Our grandfathers, fathers, and our brothers fought a just war against the National Socialists for a variety of good reasons, not least of which was to end the extermination of Jews, Roma, peoples with disabilities, and homosexuals.

Had I been born in say, 1932, instead of 1982 as I actually was, my Jewish background would have led to my being deemed unfit to live according to the Nazis. The evil of this seems so obvious looking back, as hindsight is 20/20.

Yet, were I, with Ushers Syndrome type 2, to be conceived in 2032 in a world that has accepted screening, I would be deemed unfit to live.

Will we learn from our mistakes?