Deciding to Conceive with Heritable 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.

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:

Fear

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.

Disappointment

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.

Loneliness

I felt alone.  We didn’t know anyone else with retinoblastoma.  I felt burdened by this decision, with few people to talk to.

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:

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.

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.

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.

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.

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.

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.

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.