Many vision issues are hereditary, which can add to the calculations families go through when deciding if and how to add to their family. For those of us who have minor vision issues in our family, it often just means that we need to be diligent about making sure that all of our children are monitored so that we can catch and treat any issues quickly. But for parents with more serious vision issues, the possibility of passing along those traits is much more difficult to face. In some cases, eye diseases can leave their children blind or with serious visual impairments.
A reader who is facing this situation recently wrote to me asking that I open a conversation about vision and genetics, especially for those who have learned that they carry hereditary visual diseases. She and her husband first learned that both of their children have a rare eye syndrome leaving them with a long list of associated vision issues. They then learned that both of them are carriers of a rare mutation that causes the syndrome. They are now pursuing IVF with PGD (preimplantation genetic diagnosis – embryos are tested for mutations before they are transferred to the mother) so that they can transfer only embryos that do not carry the mutation.
For those of you whose child’s eye problems are hereditary, how has that impacted your decisions to add to your family?
Wow! What a heavy issue. Since my little guy was recently diagnosed with genetic pediatric cataracts, I’ve had to inform my sisters and brother-in-law that they should consider genetic counseling before having babies or at least make certain that their childrens’ eyes are monitored closely. My one sister already has a baby and so, I’m assuming, she’ll have her daughter’s eyes closely monitored. My other sister is battling infertility and lives in a small town where I doubt she’d even have the option of IVF with PGD….but if she did, I don’t know if she would do it. I completely understand and sympathize with parents who choose this route. I work with a man whose wife’s brother was born with a terrible, degenerative disease who will likely live a shortened life so they chose to do IVF with PGD and that was the first time I’d heard of it. What a tough choice!
We have a similar experience. My partner and I have been found to both carry the very rare, recessive disease congenital stationary night blindness. This is a non degenerative disease in which the eye rods and cones don’t function properly in low light. Functionally, it means a person won’t see well or at all in poor light, won’t be able to drive at night and may have a restricted license in the day, and it is often associated with high myopia, strabismus and nystagmus. I didn’t believe my son when he complained of not seeing well enough to get back into his bed etc at night- I thought he was being naughty. My husband made me take him to our opthalmologist and with an ERG i was diagnosed. I still feel terrible. We have decided to do IVF with PGD to avoid future kids having it. IVF is hell. With PGD it is one burning, fiery hell. We have done one cycle so far, from which 5 eggs were collected, 4 were mature, 2 fertilised, 1 lived to blastocyst stage and at biopsy was found to be a double carrier of the gene ie have the disease. Here’s hoping for next cycle!
Oh Loren, I’m so sorry that your cycle was unsuccessful, I never had to do IVF, but came close and I know that it is not easy, to say the very least. Best of luck to you for your next cycle!