The Night Before Labor

Has a Rare Disease Mom Feeling All Kinds of Emotions

Riaan looks at an ultrasound photo of his sibling

by Jo Kaur, Founder, Riaan Research Initiative

I have an appointment to be induced at the hospital tomorrow. I’m pregnant with my second child. The pregnancy was extremely challenging, much more so than with Riaan. I have decided to openly share some of my thoughts because I think it’s important for people to understand what rare disease parents go through during these times.

This time around, unlike with Riaan, my husband and I know we are both carriers of an ERCC8/CSA mutation, which causes Cockayne Syndrome. We have a 25% chance of passing it on to a child through natural conception. To decrease our chances of having our second baby born with Cockayne Syndrome, we did in vitro fertilization (IVF). It wasn’t a decision we came to lightly. We were and still are severely traumatized by Riaan’s diagnosis, and if it wasn’t for the availability of IVF, I’m not sure I could have gone through another pregnancy. Intellectually, while we understand it’s not our fault Riaan has Cockayne Syndrome, as parents, we wish we could have done more to not have passed on this horrible disease to our child. We wish that the screening tests had been more advanced (unlike now when you can get an expansive genetic screening panel and screen the parents for Cockayne Syndrome much earlier in the pregnancy). We wish so bad that we could take on all of the symptoms for Riaan, that we could spare him the horror, the severe disabilities, the challenges, and the pain and suffering. But we can’t, and it kills us.

The IVF Process

IVF is no walk in the park. For me, it was complicated, lengthy, expensive, and painful. We started the process last May, only a few months after Riaan was diagnosed, largely motivated by a desire to give our precious boy a sibling, and aware of my ticking biological clock. After months of genetic testing and building probes to detect Cockayne Syndrome in our embyros, we were prepared for the first major step: egg retrieval. This involved many visits to the IVF clinic, at one point almost daily, and multiple painful injections throughout the day in my stomach and buttocks.

My hormones were out of control with all of the injections. I often cried during visits to the IVF clinic, thinking of Riaan, and wishing we could have done this for him, that we could have prevented him from having Cockayne Syndrome. I would tear up, despite my best efforts not to, during the many ultrasounds in front of the doctors, while they checked my reproductive organs to ensure I was ready for retrieval. They kept asking if I was okay and I would tell them about Riaan. I usually heard silence on the other end once I finished. No one knew what to say. No one ever does.

The egg retrieval process is easy for many, but it was not for me. I was so heavy when I walked into the outpatient procedure, I felt like I was carrying multiple cartons of eggs, an entire egg farm in fact, in my ovaries. I couldn’t wait to get rid of them.

Unfortunately, because they had overstimulated my ovaries, I developed Ovarian hyperstimulation syndrome afterward, which means I was on a special low salt diet and on bed rest for days. I developed a UTI and was all around miserable. I couldn’t take care of Riaan but luckily my sister was in town to help, and my husband was off work due to Thanksgiving break. Meanwhile, back at the IVF clinic, they were able to fertilize six embryos, and test them for Cockayne Syndrome. All six turned out to be carriers of the ERCC8/CSA mutation but none actually had it (note, these are pre-implantation genetic screening tests and about 98% accurate).

Finally, I was ready for the embryo transfer, which was a lot easier than retrieval. I was able to watch them place the fertilized embryo into my uterus, and it was strange and emotional. There’s a simultaneous feeling of gratitude for science, and also the thought of hmm, well this whole thing is kind of odd. A part of me was also thinking about how I was going through all of this to decrease the chances of the baby having Cockayne Syndrome, which of course we want, and yet Riaan is an absolute perfect and beautiful child despite his diagnosis. It’s hard to reconcile some of these contradictory feelings.

Ten days later, I received the news that the embryo had successfully implanted and I had a positive pregnancy test.

A few weeks later, I woke up with severe cramps and massive bleeding. We ran to the doctor’s office, terrified, but the baby was still alive, and they were able to detect a heartbeat. They told me that I needed to wait it out, at this point I was facing a threatened miscarriage but they did not know which way it would go. Fortunately, the incident was isolated, the cramping and bleeding stopped, and the pregnancy resumed. Thank goodness, I thought, because there was no way I was going through IVF again.

Being Pregnant Again, But This Time as A Rare Disease Mom

I won’t go into the details of the physical complications and challenges I endured during the rest of this pregnancy, which were plenty, because I really want to focus on what it means as a rare disease mother, a parent, to be in our situation. To begin with, it’s really tough being pregnant while also taking care of a child with a severe form of Cockayne Syndrome! Don’t get me wrong, I wouldn’t trade it for the world as it is an absolute blessing to be Riaan’s mother and I would go through whatever it takes if it means he gets to live. But there is definitely no time for any sort of prenatal rest or relaxation, not that there was before (and I’m sure pregnant mothers of typical children probably feel the same way to an extent).

We are looking forward to meeting our second child but the joy is compromised by the fact that Riaan, our firstborn, our love, has this cruel and vicious diagnosis. It is hard to feel completely happy. People get excited when they hear the news, and they tell us how happy they are for us, and we are grateful to them. But the truth is, I’ll never be fully happy again, or feel that joy that comes with an innocence untouched by the most severe trauma a human being can face: that of losing a child. How can we? I won’t speak for my husband but I think he agrees. We are grateful for the blessing of a second child and excited to meet him/her, and pray that s/he will be healthy and well. Yet our hearts are tormented by what Riaan is facing, and we want nothing more than for him to get lifesaving treatments, and beat Cockayne Syndrome.

We are also saddened by the trauma our second child may face, that has been fated even before s/he is born - having a sibling with such a severe and fatal diagnosis. Was it fair to bring this child into this world, to experience this kind of pain? We are worried about the health of our second child as well, after what happened with Riaan. We are fully aware that so many things can go wrong now in pregnancy, and that trauma and fear sits with us daily. We won’t know if our baby is fully okay until after s/he is born, and likely many months, maybe even years after. Sometimes knowing too much is a curse.

Will a second child take time away from Riaan that he needs from his parents given his diagnosis? Is that fair to Riaan? There are so many thoughts that feel unresolved in this moment, and I don’t have any answers. I just want to do right by my children, and I feel like it’s extremely hard to accomplish this goal at times. I know I am not alone and there are plenty of other parents with multiple children, some typical, and others facing a rare diagnosis, who are navigating some of these tough questions and thoughts.

When I go into the hospital tomorrow, I’ll be scared and nervous. Labor is no joke, even the second time around. But I’ll think of Riaan, the most extraordinary person I have ever met, every step of the way, and all that he accomplishes on a daily basis, and that will give me the strength I need to ride out the waves of painful contractions. I will think of how Riaan has recently begun to kneel and sit up from an all fours position, even maintaining it while using one hand to play with toys. I will think of all he endures, and how he continues to face the world with chardi kala (eternal optimism), and joy, carrying a wisdom far greater than his years. I will think about how happy he makes everyone around him, the magic of the stars and the universe shining through his gorgeous, brown eyes. I know that my unparalleled love for Riaan, and his unconditional love for me, will carry me through any hardship I face.

Riaan kneels by himself

The hardest part about being in the hospital will definitely be not being able to hold and hug my darling perfect child, my best friend. It will be incredibly difficult to be away from Riaan for a few days or longer - I’ve never been away from him longer than a night his entire life, and never more than a few hours after his diagnosis. I also fear, on those darkest of nights, in the deepest part of my mind, well what if something happens to me? I’m the only one other than his ophthalmologist who can insert his contacts. Who else will do it? How will he survive without his mother, his cuddle buddy, who snuggles with him under the colorful stars on our bedroom ceiling, while we fall asleep to Alexa playing soothing thunderstorm sounds? Who teases him, who makes him giggle, who knows his full schedule and routine inside out, and will do anything humanly possible to protect him and get treatments developed? Should I have taken this risk in becoming pregnant again when I know Riaan needs me? (I’m a high risk pregnancy). When these thoughts hit, I try to channel Riaan’s strength and nature and attempt to calm myself.

Regardless of all the uncertainties, I know Riaan will be the best big brother, and I hope his new sibling will bring him lots of happiness and excitement (certainly a fun playmate!), and infuse into our family much needed hope for the future. We can only hope and pray for the best.

Thanks for indulging my thoughts on this long, stormy, and lonely night, and for continuing to support our efforts to build treatments for Cockayne Syndrome. To learn more about our work, please visit riaanresearch.org, and donate at riaanresearch.org/donate.