Thank you for the article. I like that attention is being drawn to this condition. My 12 year old daughter was just diagnosed with this condition in August. I was kind of shocked . I’d never heard of it. Neither my husband or I have any symptoms of it. My daughter’s doctor said although it could be a new genetic mutation for her, most likey it was inherited. He said one of us could have such a mild case of it that we didn’t even know and passed it on to her.
She seems to have a relatively mild case and were hoping as she finishes growing these next few years she will not develop any issues that would warrant surgery. I still worry how this will affect her as adult as I have read it can be an issue even in adulthood.
She knew she had this terrible genetic disorder, yet chose to have biological children anyway.
I don’t get it.
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Why? Because, the author weighed the risks and concluded that her disorder isn’t that terrible. It’s an inconvenience, but not one that seriously impedes quality of life. The assertion that this child should never have been born is deeply unsettling. As is second-guessing or restricting a woman’s reproductive choices.
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@KST As a parent, it never once occurred to me not to have children for the fear of getting MHE. I don’t consider it a terrible genetic disorder.
I have 3 kids- one with MHE. They are all amazing. My nieces and nephews (with or without MHE) are amazing. My husband who has MHE is a successful business man, played collegiate tennis, and continues to live an active lifestyle.
This “terrible genetic disorder” is no worse than a judgmental opinion or a life spent living in fear because of the what if’s.
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Thank you for this. I, too, inherited HME from my mother. Through some combination of choice and circumstance, childfree in midlife. In hindsight, it’s obvious that shame and fear played no small part in my reproductive decisions. My own life is the furthest thing from tragedy, but still, I wish your daughter a future unburdened by self-limiting beliefs.
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The author and some commenters seem to be engaging in magical thinking regarding their congenital disorders. Just because your child has inherited this disease/disability/hardship does not prevent them from having other hardships. Life is hard enough without a chronic illness. For this reason I would argue against knowingly passing on such a disorder.
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Our daughter was diagnosed with an osteochondroma when she was 2. Her doctor said she could have just that one or eventually, many. We were told it could be genetic or not but really, what difference would it make. We got on with our lives. Over time, our daughter grew MANY of these bone tumors and had MANY surgeries. Never was this referred to as a DISEASE. It’s a condition. It wasn’t until she was in college that, incidental to a knee surgery, my husband was told he had an osteochondroma. My husband, daughter and I laughed that we now knew where to point the finger! But what difference did it make? She has it and we all dealt with it. That’s life. Daughter today is a geologist/engineer/lawyer. No violins.
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@Jane Housewright While I do not want to take away from your experience, whether you call this a disease or a condition or a disorder, this particular disorder can, in fact, be quite disabling and painful. For some people, no treatment is required. Others have severe disease, with pain and disfigurement. It doesn't have to be life-limiting, naturally, but I see no harm in having some empathy, or "violins", for those afflicted.
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@ck
I think Jane Housewright was explaining her personal one-off experience. No violins for her - not no empathy for others who have more or different experiences.
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Thank you for sharing this. I can very much relate, having an inherited and primarily osteopathic disease that was passed down from my father, who inherited it from his father, who inherited it from his mother. My children have a 50% chance of having the same disease. When I was young, doctors told me I was lucky, that by the time I was old enough to have children, genetic testing could prevent me from passing it down. No one mentioned what this actually meant, choosing fertilized eggs that don't carry the gene and destroying the rest. This is an impossible choice for me, for my husband. My experiences have shaped me into a person I'm proud to be, and had my parents been given this clinical choice, I wouldn't have the opportunity to claim any experiences at all. Our children have that opportunity, and they may also have chronic pain and difficulty moving as they get older, but the human condition is never promised to come without pain. If not this, then something else. There is always something else. I'm grateful more for what I have than anguished over what I do not. I have learned the lesson of perseverance and determination from watching my father progress through this same disease. It has not come lightly and has paid dividends throughout my life. He is my living example of what it means to never give up and to work with what you're given. I can only hope to set the same example for my kids.
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@Jessica You write, "If not this, then something else. There is always something else." I believe you are wrong.
Rather it could-- and likely will-- be "this" AND something else. Both you and the author engage in this magical thinking. This may be the disease/disability/hardship that you are most familiar and comfortable with, but it does't magically protect your child from other hardships. Children deserve the best shot at a healthy body because, yes, life is hard even without a chronic disease. Obviously I can't argue with you if you have moral/religious objections to screening and destroying fertilized eggs. However, if your objection is just the thought that you wouldn't be here if this technology existed previously, well then that's just being self-centered.
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Thanks very much for sharing your story as it makes me feel I’m not alone. When my granddaughter who I was caring for & who lives with me was 4 years old I noticed the ankle bone that protrudes on her right foot was slightly larger than the left. I took her to her pediatrician and he said he didn’t see anything to worry about there. I was relieved. However, after 6 mos and warm weather arrived (no socks/ boots) finally I noticed again that the ankle was even bigger.I called the dr.s office & asked for a referral to an orthopedic dr. The nurse said bring her in again and we’ll take another look.That time was quite different as they ordered an X-ray & gave the diagnosis that her ankle had been broken and didn’t heal well but they would refer her to Children’s National satellite Office.Before they even saw my granddaughter the new dr. reviewed the X-rays and called to say she had a bone tumor. I almost fainted from shock.Then they referred her to a pediatric bone tumor specialist at Children’s National Hospital in DC. He ordered a CAT Scan & an MRI.He finally told us it was a benign tumor, osteochondroma. He said that he wouldn’t operate because her body’s response would probably be to grow more bone.She is now 10 years old. The tumor stopped growing(so far)thank goodness, & she has almost full range of motion except curling her right foot inward toward her left but that hasn’t stopped her playing soccer since she turned 8 yrs old!
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Beautifully written. Thank you for sharing.
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I think about this all the time. Before I had my daughter, I knew I have a 50% of inheriting Fuch's Dystrophy (eye disorder) from my mother who has had two partial corneal transplants because of it. Even if I do have the mutation I may never develop the condition so I may never know if I have it or if I've passed it. I also have rheumatoid arthritis, diagnosed when she was a teenager. This can be passed as a predisposition which may or may not develop into issues for her.
We are all genetic crap-shoots of one sort or another.
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Thank you for sharing your story. I am a patient advocate who has worked extensively with a grown man who has this condition. From working with an expert at UCSF, I have learned that surgery often begets surgery causing my client to use other pain relief approaches to manage this. I also want to mention that UCSF has a clinical trial for pediatric HME that looks promising. We work with Dr. Hsiao.
May your daughter's spirit never suffer.
AnnMarie McIlwain
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@AnnMarie McIlwain
"May your daughter's spirit never suffer."
What a beautiful blessing. Thank you.
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I believe everyone carries the potential for an inherited disease. If we all decided not to bear children solely due to the fear of passing on the gene, I daresay the population would come to a grinding halt. Unless we insist on having "designer" children, we all take a risk of hereditary illnesses being passed on to our children. Yet we continue to procreate. And to love our children for who they are, not for their diagnosis or potential diagnosis. Freya is blessed to have you as her mother.
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There are 7 billion people in the world today.
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Thanks Ms Levac for your story. I'm sorry that your daughter and you have to navigate this territory, her for the first time and you, yet again. I'm hoping for the best outcome for her and that you will guide her well and the whole experience will provide you both with a stronger bond of trust and strength.
My son was diagnosed with just one osteochomdroma when he was two. It was removed through a long surgery and a full recovery after a cast and a pin through the finger.
The full genetic condition was explained to us and confirmed that this one was an anomaly and that we shouldn't expect anymore. Neither parent is aware of a history of this either family.
No parent wants to have their child go through any kind of surgery and just one visit to a children's hospital does make you give thanks and gratitude for conditions that have a positive, manageable outcome. You are proof!
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I also hope against hope that it’s a minor problem and that it would vanish after operation once for all so that Freya will on no occasion need to bother about it. I wish you and your family members a very prosperous and bright future.
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God bless, thank you.
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Surely the predisposition to disorders is heritable thorough maternal mitocondria. Unfortunately, people are not told that nowadays we are able to prevent the Constitution-Dependent, Inherited Real Risk of most common and severe human diseases by means of inexpensive Reconstructing Mitochondrial Quantum Therapy.
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@Sergio Stagnaro Why mitochondrial and not nuclear DNA?
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@Sergio Stagnaro Is there any particular quack clinic that you recommend?
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Modern fertility medicine has methods to allow people with severe genetic disorders to have healthy babies free of these inherited conditions. Before I had children I had a full panel of genetic tests to make sure I would not give my child such a disease. As someone who works professionally with people disabled by such inheritances I'm sad and surprised whenever I learn someone has made a conscious choice to pass along a serious disease. Give your child the blessing of good health, not the blessing of overcoming unneeded suffering.
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@AnotherWay
What you are talking about does not remove the condition from the embryo. They simply select the embryos that don't have the condition and destroys the others. This is expensive and many people find it morally questionable. What you are saying is it's sad *this* child was born and that an entirely different child should have been born instead. People are free to make their own decisions of course but I don't know that I find it comforting, as an adult with a disability, to read someone saying that a relatively mild disability means it's sad a child is alive. Obviously the author is a capable, intelligent person. Perhaps she simply decided that, knowing what life with her condition is like, she felt confident she could help her children navigate it. Disability is not the end of the world. I am different from my family because of my disabilities. I love them but this makes me happy because many of the struggles they have without any disability I bypassed. I talked early and academics have come easily to me, likely because I had to spend a lot more time thinking and eventually reading due to my limited mobility. I was the first one in my family to graduate college. There are so many things that come easily to me that they struggle with and vise versa. I wish I had been given better medical care so I would not be in so much pain but that is the fault of doctors and many with my condition are not in so much pain. I am glad I exist and I bet so will this child be.
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Does this mean you would have refrained from having children if you carried the genes, or would only have them with someone who wouldn’t double up a recessive gene, or did it mean you would pick and choose among embryos or fetuses?
Much, much difference in the ethics of these choices.
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@JJ, your response is beautifully written and says everything I was thinking, just more eloquently.
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Lyrical and thoughtful. Thank you Danielle, and good luck.
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Thank you for sharing this brave intimate reflection, taking us along as you push through your thoughts and feelings. Freya is fortunate to have you as a model of how we come to terms with the genetic realities we are given.
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