10 October 2012

Genetic testing and (de)selection for Ichthyosis. What would I do?

If I fall pregnant, I will be able to genetically test for Ichthyosis in the womb. There is a one in eight chance for me to pass on my condition (as a whole) to my child, and it's inevitable for me to pass on the gene. There's a greater chance of my child acquiring the condition if my future partner carries the recessive gene too.

My parents have been tested for the gene. They have a one in four chance of passing on Ichthyosis. They both carry the recessive gene. There was no indication I was to be born with ichthyosis - it was never detected before birth. They don't show symptoms of it. I have had genetic testing too. I remember the day. The doctors shoved a giant cotton bud up my nose and it felt like it touched my brain. Hurt like hell. My grandfather had some sore skin patches on his leg. I always wondered if he had mild Ichthyosis. But I can't change past genetics. I can control future genetics.

I'm happy I was born. My parents did a wonderful job to raise me and to show me my worth. I know that for some people with serious disabilities and illnesses, they would not be happy they were born, and there may be resentment from both the patient and the parent.

I'm not sure if I would genetically test my unborn child for Ichthyosis. I'd have the test and then what? Would I go ahead with the pregnancy? I'm not sure. Would it enable doctors to be more prepared upon my baby's arrival? I already know there's a likelihood of passing on Ichthyosis, so perhaps one could believe that I'd be prepared for what may lie ahead, medically and socially, because I am familiar with the condition. But I don't know what it'd be like to have a healthy baby - one without ichthyosis - either. Would it be better not to genetically test in the womb?

These ethical issues about genetic testing for disability and illness are hard to discuss. I think they're bigger than choosing a baby for its sex or hair/eye colour. There is the assumption by society that people with disabilities and illnesses have less of a quality of life. That we are suffering and a burden on our families, the economy and the medical system. There is misinformation about disability and illness because of history, textbooks and media representations. These assumptions infer that we're an inferior race.

Before I found my strong identity and made many friends in the disability community, I would have said NO to bringing a child with Ichthyosis in the world. I don't believe one life is more valuable than another. And I don't like the view that someone like me should never have been born. But from my own experience - and I acknowledge the varying degrees of ichthyosis - this condition can be difficult. But my quality of life in recent years shows the very reason why a child with my condition should be born. Life's great. I feel enriched and empowered. I've made my illness part of my identity. Yet it doesn't define me - I'm more than my illness. I'm proud to be different. Disability culture is rich, and it is important to maintain a diverse society.

I also have more information than potential parents without the gene. I'm not measuring a quality of life by a text book or assumptions, I'm measuring it on my own experiences.

Ichthyosis is painful. My variation is not fatal, but there are forms that are. It's socially challenging. People are cruel. But. I've learnt to cope well. It's not something to be pitied. I'm sore but I'm not suffering. Treatments are progressing. I am ok, but how can I know whether my child will cope in the same way? While I don't want a cure for my own ichthyosis, my feelings about the responsibility of carrying this condition to another generation are unclear.

Would I knowingly pass ichthyosis onto my child, despite the experience and infomation I have acquired? Could I put my baby through what I've been through? The little person that I'd love and protect more than anyone else in this world? I'm not sure if I could.

This post was written after reading Stella Young's Ramp Up article and watching the very confronting SBS Insight - both about genetic screening.


  1. Choosing to test for a genetic condition is a lot different than choosing to select for something that is essentially a vanity choice. It's not an easy decision, and it is something very personal. I've been asked why we have more than one child affected with ichthyosis and have been called selfish for not stopping after the first one. It's always more complicated than it looks.

    As always, thanks for another awesome post!

    1. Jennifer, one of the things that stands out so vividly in my mind from the regional conference in Richmond last year, as we sat in that circle of parents (and Mawmies and PawPaws) discussing ichthyosis, was a question you asked our daughter and son-in-law. They talked about knowing beforehand that any child they had would have a 50% chance of inheriting Trey's EKV. I wish I could remember exactly what you said, but you asked them if they knew and decided to have children any way. They did not hesitate w/ their "yes". If I could, I would take ichthyosis away from A & JE, but only if I could take away every type of painful (whether socially, physically or mentally) malady from every person, like my great niece's hypoplastic left heart syndrome or my niece's autism. But then I would never have 'met' you or Carly. Ichthyosis is a common bond among people from all points of the world. For some, like you and your husband and like Carly, it has been a dynamic, driving you to pursue the extraordinary. Ichthyosis has made you and Carly stars that shine in this otherwise dark world. There is a promising future for your children and my grandchildren b/c those very children, I believe, are the driving force behind your efforts to further awareness, research and education. Thanks for "taking the plunge."

  2. I know that I couldn't bring a baby into the world if I knew it would have Ichthyosis. and here's why:-"Ichthyosis is painful".
    I don't like the idea of any child going through life in pain. It wouldn't be just Ichthyosis I'd worry about either. Any condition at all that meant a child would live its life in pain, would see me scheduling an abortion.
    I know it sounds terrible for me to say this, but there, I've said it.

  3. Gutsy post Im proud of you well dine!!!x

  4. Carly, you are an inspiration. We were told late into our third pregnancy that the doctors suspected our baby had a chromosomal abnormality, most likely downs. I'm ashamed to write on your blog that I had some very awful and selfish thoughts regarding this matter. Our healthy little girl was born a few days later, with no chromosomal abnormality, but by the time I clapped eyes on her it didnt matter either way. On the way home from the hospital I heard a story of a woman who had terminated her pregnancy for a cleft pallet, a condition the mother herself had, and claimed that she could not put her child through the same torment she had received despite the advances in treatment for this. I looked at my little girl and tried not to judge this woman, I really did.
    It is people like you Carly that shine a light for anyone facing difficulty. I was faced with a choice to genetically test our little girl in the womb, do that I could have a choice in what I would do with our downs baby, only it wasn't OUR possible downs baby, it was Andie. If terminating our way out of ichthyosis means terminating Carly I say No thanks.
    Thank you for sharing. Xx

  5. Powerful post, Carly. Such a difficult topic to discuss. Well done on putting your thoughts - all your views, each side - out there.
    Heidi xo

  6. Here's what I think it comes down to, with whatever condition/illness/difference is detected in utero: what you know you can handle as a parent.

    We can't foresee how our children will cope with being different, or with being ill, every person is different and has different stamina and different brain "wiring".
    I am tough, determined, rational, intellectual, and though I've been dealing with depression for 20 years, I am glad I was born, even if the arm wasn't born with me... Some of my determination is of course due to the lack of arm!
    My parents helped me become resilient and focused on what I could do rather than what I couldn't. Had my brother been the one without the arm, things would've been tougher for him, he truly found himself when he first picked up a guitar, his artistic talent would still be there but had he not had an arm he probably would be a stage designer now and not a guitarist.
    What I'm saying is that my parents' love and determination helped me help myself in becoming who I am. Had my parents had a different approach or less love, I probably would've ended up suiciding in my teens, because I did have that thought many times in those days, but I also had my parents' outlook on life to help me see that there's a future and that I was in charge of it.

    So if in your heart of hearts (and by you I mean anybody reading, it's just easier constructing the whole sentence using "you" rather than "one"...) you know that you don't have it in you, if you feel that you just can't love that child and support it and help it (him/her) find the joy in life, maybe then termination is a good option.

    Of course I love the thought of every baby being born, but one really should look at the practicalities. If you already have 9 children and they're all starving because you're extremely poor, would you bring another to the world? If you can't provide financially for a child, considering not having the child seems a wise option. But aren't emotional concerns just as relevant? If you KNOW that you won't love or provide emotional security and support for the child, I think that maybe not bringing him/her to the world is an option.
    As Jennifer (above) says, it really is a very personal decision. Had a physical deformity/abnormality been detected in utero for either of my kids, I would've just braced myself for a few tougher years, but definitely carried on with the pregnancy and loved them dearly. But had a severe mental defect been detected, I am not so sure. I am not sure I would've been able to cope with that.

    Thanks for discussing not-so-easy topics Carly :)

  7. Such a brave post Carly. I've thought about this too, even though I don't have a known genetic something to test for, the tests are becoming more and more precise. I always think of the movie Gattica, how long till our lives are determined by our DNA?
    I guess in the end it comes down to each couple, their own situation, beliefs and ability. But boy, what a hard decision to make.


  8. This is a very timely post for me. I have recently randomly found out that I am a carrier of x linked ichthyosis and if I have a child who is a boy there is a 50% chance he will get it. My dad has mild ichthyosis which I wasn't even aware of until after I found out I was a carrier, I always knew his skin was different but never knew why. My husband & I are getting genetic testing done very soon and unfortunately it may be a deal breaker for us in deciding whether to have another child (we currently have a daughter). I actually wish that I hadn't found out that I was a carrier so that I didn't have to make this decision but now that I have the knowledge I feel like I have to make the most informed decision I can when it comes to deciding whether to bring another child into the world or not.

  9. I saw the Insight episode and it was really interesting. The comment that has stuck with me was made by the ethicist along the lines of 'if you don't want the best for your child, that is immoral'. this comment was made after a couple had chosen IVF to have their baby so that they did not pass on cystic fibrosis to their child. But what is 'best' is completely subjective, as a lady with cystic fibrosis in the audience argued.

    I see it like this, life is tough as it is, let alone having a lifelong condition in addition to the normal trials and tribulations. You cannot rule everything out though, no one is ever 'perfect'. But if we can prevent something like cystic fibrosis or Ichthyosis via IVF, then I say YES - do it.

  10. I am glad we didn't know about Brenna's condition beforehand. We would have just had more time to stress and worry and cry - we did enough of that as it was after she was born.
    I always thought testing for any condition would just be a way to prepare oneself if something was wrong...then I read a horrifying statistic that somewhere around 85 or 90% of people who get a positive for Down syndrome on a prenatal test abort the baby. You know, sometimes tests are wrong...and to kill your own child because they might not be exactly what you wanted is abominable...and a good indication of the quality of parent that person will be when they have another baby.
    Sometimes it's a little too easy to "play God," and that can make decisions for people even more difficult.

  11. Hmm, this topic has weighed on my mind for many years and I have some strong views on the subject. I am sorry I missed the Insight program, I rarely miss it. I also have ichthyosis, and when I first started dating my husband, my mother took me to the Genetics clinic at RCH, results came back 50/50. My mother said "it is your decision, but if you have a child with Ichthyosis, don't you dare expect me to help raise that child as I went through hell bringing you up". I felt blackmailed and was talked into having my tubes tied. That made me feel like she was ashamed to have me.

    To decide not to have a child because it might have Ichthyosis is giving in to society's bad attitudes toward disability. I believe I would have been in the perfect position to guide that child to stand up tall and proud of who they are no matter what was thrown at them. I can also understand that people may believe it is a selfish decision, and that because we know what discrimination and physical pain is like, then we wouldn't want to wish it on another human being, but to the contrary, we can shape that child to be advocates for themselves and others like them.

    Everyone is right, we would not be the compassionate and vocally passionate people we are today, if we were born in any other way.

  12. it's very touching Carly, it is a gift from above.


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