Deciding to Conceive with Heritable Retinoblastoma
Monday August 30, 2021
When there is a chance that children may inherit retinoblastoma, deciding how to start a family awakens new feelings in survivors. Every possible option comes with complex questions and emotional costs, and survivors and their partners may experience feelings of isolation as they navigate their decisions. Rb survivor Ruth Greenslade shares her reasons for deciding to have children, and her personal perspective of factors to consider when conceiving with heritable retinoblastoma.
Asking, “should I have kids if they may inherit cancer?” is a question few people must ask.
When I got engaged, something shifted in me. “I’m a survivor” and “I have a cool prosthetic eye” turned into “what if my kids have cancer?” Suddenly my cancer history was swirled in emotion. I stopped talking about cancer and my eye. Only those closest to me knew my children could inherit cancer.
Emotions when Deciding to Start a Family with Retinoblastoma
Teen and young adult survivors who have been cancer-free since their toddler or preschool years don’t have to think about cancer much. It doesn’t affect their daily life. For those who carry the genetic mutation for retinoblastoma, that changes when they decide to start a family. Through Rb Moms, a Facebook support group for mothers of retinoblastoma patients, I’ve met other survivors. Some are quoted in this post, with their permission.
“Yesterday was my daughter’s 19th cancer-free anniversary. She chooses to not celebrate it or allow Rb to define her in any way.”
“I used to say cancer was something I had that didn’t define me. When I decided to start a family all that changed and it has been something that has defined me ever since. I am forever thankful that I had that period of ‘innocence’ before I understood the impact of carrying the gene mutation.”
Everyone may experience different emotions as they consider how the RB1 mutation will affect their desire to start a family. Naming the emotions and talking about them is a place to start.
Some of the feelings I experienced as we decided how to start a family were:
I was afraid of our children being born with cancer. I was afraid of the uncertainty and the unknown. I worried my kids might lose an eye or die. Children dying became an emotional trigger for me. I tried to avoid books and movies and news stories where children died.
Grief and guilt
I grieved that I even had to think about this RB1 mutation. I felt guilty about the idea of passing on this gene mutation. I wondered if our kids would blame me. It’s natural to feel grief and loss about passing along a genetic condition.
I felt disappointed by the options. When I did a paper on retinoblastoma for high school biology, I’d learned in vitro fertilization could prevent Rb. When my husband and I learned this was done by testing the embryos and discarding the ones with the mutation, I realized this was not an option for us.
I felt alone. We didn’t know anyone else with retinoblastoma. I felt burdened by this decision, with few people to talk to.
A Rare Condition, Rapidly Improving Treatment
Retinoblastoma is a rare condition. Many retinoblastoma survivors don’t need to worry about passing the cancer along to their children. However, some patients with tumors in one eye (unilateral) and all patients with tumors in both eyes (bilateral) have a mutation in the RB1 gene in cells throughout the body. This means they have heritable retinoblastoma that can be passed on to the next generation.
Since some retinoblastomas are caused by a heritable mutation, while others are not, a genetic test is the only way to know whether a survivor’s children need to be screened for retinoblastoma. This story from another survivor shows why:
“As an Rb survivor I grew up uninformed and didn’t have any knowledge of how it’s hereditary. I found out too late, a year after my son was born, that he had inherited my gene and he had bilateral Rb. I’ve felt so stupid. I could’ve known. I asked doctors and they’d just say, ‘if there’s no family history and your 3 siblings are fine, then no it’s not possible to pass it on.’ I believed it. I wasn’t too aware of these things I’ve learned since, that I wish I had known. Maybe I could’ve saved my baby’s eye from being enucleated and his other eye getting so affected.”
Retinoblastoma is so rare that doctors unfamiliar with it may give inaccurate information, like in the case of this survivor. As you consider having kids, you may want a referral to specialists with experience with retinoblastoma patients.
I am the first person in my family with retinoblastoma. At diagnosis, one eye was immediately removed, and the other eye seemed healthy. Three months later, two tumors appeared in my remaining eye.
Because my tumors appeared in both eyes, my parents were told I had an RB1 mutation, even though there was no way to do a genetic test in the eighties, and I didn’t seek testing until I started a family. The good news was that in the 1980s, this cancer was treatable. Doctors saved my right eye with cryotherapy and chemotherapy. I lost one eye, but the doctors told my parents that only a few decades before, I would have been blind.
In high-income countries, 97% of retinoblastoma patients now survive. However, survival rates remain lower in middle-income countries, and 40% is at the high end of survival rates in low-income regions. Since many children in low-income countries don’t make it to a treatment center, the true survival rate is lower. I know that I am privileged to have access to life-saving treatment an hour from my home when I pose this question of whether to have children.
Treatments have continued to improve since I was cured. I have three children, and one inherited my RB1 mutation and developed unilateral retinoblastoma. Because we knew to look for it, my child was diagnosed within a week of birth. Doctors saved the affected eye with laser and chemotherapy, including three intra-arterial chemotherapy treatments after a reoccurrence.
Because Rb is so rare, and treatment so recently advanced, only a few generations of survivors with heritable retinoblastoma have faced the choice of whether to have children.
Notes on a hospital white board for a baby undergoing retinoblastoma treatment.
Considering Adoption and IVF-PGD
There are some options to consider about starting a family when you have an RB1 mutation. For a more thorough discussion of options, see the 2019 blog post by survivor and genetic counselor Melissa Mills, How Do I Create a Family When I Have a RB1 Mutation?
Is adoption an option for you?
Take the time to discuss and explore adoption as an alternative to having biological children. Survivors have adopted through domestic and international agencies and through foster care. It’s worth noting that in many countries and states in the US, disabled applicants – including blind and visually impaired people – are penalized in the adoption and fostering process.
What is your opinion of in vitro fertilization (IVF) with pre-implementation genetic diagnosis (PGD)?
PGD is used to select embryos without the RB1 mutation. Views on assisted reproductive technology vary among people of different cultures and religions. Christians views on IVF vary. There are differences in perceptions about the ethics of PGD compared to abortion. PGD presents moral and ethical problems, although some people find a way to accept the technology. Some donate RB1-affected embryos for research.
“It’s a very personal decision to decide how to deal with being a carrier. We knew the odds before we had Owen – but we also felt like we were supposed to have him (and desperately wanted him). PGD is the route for some people, but that’s an ethical dilemma too.”
“When I look at my Rb survivor child, I have no regrets, none. I can’t look at her and think of doing PGD. Is it better to be an embryo donated for research or is it better to live life? She’s enrolled in a research study for Rb survivors, so we’re contributing to research too.”
“I didn’t want any of my embryos to be destroyed simply because they had RB1 mutation, but I wanted to try to conceive a child without the burden of retinoblastoma, vision loss, and the lifelong cancer risks of RB1 mutation, if I could.”
“Decisions like these are so complicated and personal. Ultimately, I place it in God’s hands and follow what I know to be his guidance.”
A friend of mine, whose husband carried a different genetic condition, introduced me to an expert in medical ethics. We heard this expert speak about the ethical problems of IVF and ethical ways to use it. The idea of embryos frozen and unused, or genetically tested and rejected, troubled me.
While a couple using IVF because of fertility issues could choose to use all their embryos or put embryos up for adoption, a couple using IVF with PGD to avoid the birth of a child with Rb would not. My husband and I believe life begins at conception and that IVF creates persons, with their own DNA, who have value whether or not they have Rb. We decided against IVF with PGD.
Preparing for the Possibility of Raising a Child with Retinoblastoma
Where high-quality medical care is available, retinoblastoma is a very curable condition and many survivors enjoy an excellent quality of life. If you choose to naturally conceive children, they have a 50-50 chance of inheriting Rb. Some things to consider as you prepare yourself for the possibility:
Is medical care available nearby?
Treatment can differ from country to country around the world. Depending on where you live, the hospital may be farther away. Depending on your income, it may be harder to pay. Remember retinoblastoma treatment has greatly advanced. The treatment available to my child was much better that the treatment available to me, retaining more sight. It is my hope that by the time my child grows up to have children, there will be even more medical innovations in Rb treatment.
What genetic testing will you choose for your child?
Without genetic testing, frequent eye exams under anesthesia will be recommended for your child. Genetic testing can show whether your baby has inherited your mutation. Babies who do not inherit the mutation do not need frequent eye exams. Babies who do inherit the mutation may benefit from early delivery to detect and treat tumors early. Consult with your genetic counselor and other providers about testing options and the benefits of genetic testing.
Are you willing to raise a child with retinoblastoma?
You’re likely thinking of the emotional toll it will have on your child, any of your other children, your spouse and you to raise a child with Rb. All the medical care in the first few years of life will be difficult for your child, but you will be there to support your child. The presence of a loving, caring adult helps your child be resilient.
If you or your spouse is a survivor, one of you has already lived through this yourself. You may not look forward to potentially reliving your own medical trauma as a parent, or it may be the opportunity for healing you never knew you needed.
Since almost all carriers of the mutation develop tumors, your child will be at risk for vision loss. They will face lifelong increased need for cancer surveillance, plus genetic counseling when they start families of their own.
Difficulty presents an opportunity to build resilience. Retinoblastoma survivors are thriving individuals with diverse interests and talents, making contributions to the world around us.
Is life with retinoblastoma worthwhile?
Yes! The world is full of people with every kind of illness, disability, and trauma history, each a valuable person. I’ve heard someone else make the point that life is precious because it’s only found on this planet. It doesn’t seem like something we should destroy lightly.
I’ve been asked in genetic counseling offices whether I would terminate my pregnancy if my baby had inherited my RB1 mutation. It just seemed like an inadequate reason to me, that a couple years of cancer treatment might be a reason for that soul to not live life. If you tell me I should not have a kid with Rb, are you telling me I should also not be alive, since I had Rb? People with retinoblastoma can and do live worthwhile lives.
“Our genetics counselor said EVERYONE has mutations in their DNA, one of yours happens to be RB, one of mine happen to be diabetes. Does that mean I shouldn’t have kids? Don’t let anyone make you feel bad about your choices. If it wasn’t for people choosing to have possible Rb kids…treatment wouldn’t be as good or effective as it is today. 96-98% survival is amazing.”
Everyone experiences adversity. When thinking about whether to have kids, I thought about how my child could be born with a more common condition, like Down syndrome or autism, and I would still love my child. Any child could have a traumatic brain injury, or become paralyzed, or get leukemia.
After I had my child with Rb, I realized my baby benefited because I knew what to do. My baby started chemo at 13 days old and retained useful vision in the affected eye. I started to daydream about trying to adopt a child with retinoblastoma! When I had the thought, it was a realization – “well, you could have another child,” I told myself, “if you’re willing to go through that again.”
That’s not something I thought on day 1 of treatment, or during round 4 of chemo. It’s something you get to as you get through it, as you see your child grow up, as you see your child survive and thrive and bring joy to the family and you realize how treatable and curable this condition is.
“My husband had Rb as a baby and lost both eyes. We have 6 kids and 2 of them had Rb. Our daughter lost her right eye and so far our son had kept both of his. We just knew we weren’t done having kids until after our 6th.”
“Is hard having 2 RB kids but is not the end of the world. The second diagnosis we handled better than the first one due to experience.”
“My little sister was completely against me having more kids. My response was: there’s a 50% chance that my other babies won’t have it and that’s what I choose to focus on. Even if they do, Rb is VERY curable and the child can still live a VERY happy and fulfilling life after Rb. Now that I have all 3 of my kiddos, my sister understands and couldn’t imagine our family without them. Also, since you are aware of the RB1 gene [mutation], you can screen future babies as soon as they’re born.”
Bree has provided an email address and encourages Rb families to reach out to her and her Rb survivor husband, Todd.
Ruth during pregnancy. She has three children, one of whom had retinoblastoma.
Emotions During Pregnancy When Your Child May Have Retinoblastoma
If you’re pregnant and your child may inherit retinoblastoma, it’s something you may feel like you’re alone in. You may feel isolated if you don’t have family members who have Rb, or if your family members disagree with your choices.
You may have family members who are questioning whether you could handle a child with cancer, or why you would have another baby who might inherit cancer. You might wonder if they will love the baby as much if the baby does have cancer. Emotions can be overwhelming.
“I had an amniocentesis because I needed to know. I just needed time to prepare emotionally. Plus dealing with my family—when I told my mum I was pregnant, she responded with ‘oh no’”
“I ended up getting pregnant with my second unexpectedly in spite of my attempt to prevent it, and I was called selfish and my family wasn’t happy for me. But I was happy and that was all that mattered to me.”
“During the IVF, my mother told me she would have terminated had genetic testing been available when she was pregnant with me. Her words broke my heart, and our relationship.”
You may find that you’re very anxious during your pregnancy, wondering how things are going to turn out, wondering what the genetic test results are going to be. With my first baby, people were happy for me and excited about the baby. They got me gifts and threw me showers, and meanwhile I was silently dreading that potential diagnosis and wondering if my child was going to have cancer.
Maybe you will have peace whatever the outcome. With my second and third pregnancies, I decided it was not worth it to be anxious, since the baby was just as likely to NOT have cancer as to have cancer! I realized I would value and love my baby no matter what. I can’t imagine our family without any one of my children.
Our hearts long for a perfect world, but we know the world is full of suffering, adversity, and difficulty. We cannot prevent experiencing suffering on this earth. We are bound to have trouble of one kind or another. I realized I could not control whether my children inherited Rb. But I could love my children no matter what. I put it in the Lord’s hands, and I trusted him.
In the Future
WE C Hope will aim to publish articles in the future sharing retinoblastoma survivor personal perspectives around adoption/fostering and IVF-PGD. Please contact Abby White if you are interested in sharing your experience.
About the Author
Ruth is a retinoblastoma survivor. She has a master’s degree in public and nonprofit leadership from the University of Minnesota. Her cancer was treated at the University of Minnesota children’s hospital in the 1980s. She works as a local public health supervisor. Ruth and her husband, Tim, live in Minnesota with their three children. Ruth enjoys studying the Bible, listening to podcasts, creating photo books, walking, and cooking with fresh produce from the farmers’ market.